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
ACSM2A_chr16_20446521_20492669	20483086	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp1 HG00558.hp2 others(62): Show HG00140.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp1 HG01256.hp1 HG01978.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02559.hp1 HG02630.hp2 HG02738.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03669.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18969.hp2 NA18972.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19082.hp2 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp2	a0004 a0006 a0008 others(3): Show a0004 a0006 a0008 a0012 a0018 a0020	a0004c0004 a0004c0014 a0006c0016 others(4): Show a0004c0004 a0004c0014 a0006c0016 a0008c0008 a0012c0013 a0018c0029 a0020c0027	a0004c0004t0002 a0004c0004t0013 a0004c0014t0001 others(5): Show a0004c0004t0002 a0004c0004t0013 a0004c0014t0001 a0006c0016t0002 a0008c0008t0001 a0012c0013t0002 a0018c0029t0001 a0020c0027t0020	a0004c0004t0002g0003 a0004c0004t0002g0032 a0004c0004t0002g0269 others(56): Show a0004c0004t0002g0003 a0004c0004t0002g0032 a0004c0004t0002g0269 a0004c0004t0002g0279 a0004c0004t0002g0281 a0004c0004t0002g0289 a0004c0004t0002g0290 a0004c0004t0002g0292 a0004c0004t0002g0293 a0004c0004t0002g0295 a0004c0004t0002g0296 a0004c0004t0002g0297 a0004c0004t0002g0298 a0004c0004t0002g0299 a0004c0004t0002g0300 a0004c0004t0002g0301 a0004c0004t0002g0302 a0004c0004t0002g0304 a0004c0004t0002g0312 a0004c0004t0002g0313 a0004c0004t0002g0315 a0004c0004t0002g0316 a0004c0004t0002g0317 a0004c0004t0002g0318 a0004c0004t0002g0320 a0004c0004t0002g0321 a0004c0004t0002g0322 a0004c0004t0002g0323 a0004c0004t0002g0324 a0004c0004t0002g0325 a0004c0004t0002g0326 a0004c0004t0002g0327 a0004c0004t0002g0328 a0004c0004t0002g0329 a0004c0004t0002g0330 a0004c0004t0002g0333 a0004c0004t0002g0334 a0004c0004t0002g0335 a0004c0004t0002g0336 a0004c0004t0002g0337 a0004c0004t0002g0372 a0004c0004t0002g0376 a0004c0004t0013g0278 a0004c0004t0013g0379 a0004c0014t0001g0157 a0004c0014t0001g0160 a0006c0016t0002g0358 a0006c0016t0002g0360 a0008c0008t0001g0015 a0008c0008t0001g0038 a0008c0008t0001g0146 a0008c0008t0001g0152 a0008c0008t0001g0181 a0008c0008t0001g0189 a0008c0008t0001g0190 a0012c0013t0002g0229 a0012c0013t0002g0236 a0018c0029t0001g0070 a0020c0027t0020g0280	65	436	0.1491	c.153 others(4): Show c.1538C>T	p.Ser others(6): Show p.Ser513Leu	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	13/14	1707/2894	1538/1734	513/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20486625	G G	A A	missense_variant missense_variant	MODERATE	HG01928.hp2 HG01928.hp2	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0031 a0017c0030t0031	a0017c0030t0031g0122 a0017c0030t0031g0122	1	436	0.0023	c.168 others(4): Show c.1681G>A	p.Ala others(6): Show p.Ala561Thr	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	14/14	1850/2894	1681/1734	561/577	chr16	TogoVar
ACSM2A_chr16_20446521_20492669	20486674	A A	G G	missense_variant missense_variant	MODERATE	HG03225.hp1 HG03225.hp1	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0020 a0020c0027t0020	a0020c0027t0020g0280 a0020c0027t0020g0280	1	436	0.0023	c.173 others(4): Show c.1730A>G	p.Gln others(6): Show p.Gln577Arg	ACSM2A	ENSG00000183747.12	transcript	ENST00000573854.6	protein_coding	14/14	1899/2894	1730/1734	577/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20537269	G G	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0014 a0014	a0014c0026 a0014c0026	a0014c0026t0002 a0014c0026t0002	a0014c0026t0002g0113 a0014c0026t0002g0113	1	388	0.0026	c.172 others(4): Show c.1723C>G	p.Arg others(6): Show p.Arg575Gly	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	14/14	1892/2935	1723/1734	575/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20540654	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03831.hp1 NA19064.hp1 HG03831.hp1 NA19064.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0193 a0011c0021t0001g0194 a0011c0021t0001g0193 a0011c0021t0001g0194	2	388	0.0052	c.162 others(4): Show c.1629G>C	p.Lys others(6): Show p.Lys543Asn	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	13/14	1798/2935	1629/1734	543/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20540692	C C	A A	missense_variant missense_variant	MODERATE	NA19079.hp2 NA19079.hp2	a0013 a0013	a0013c0031 a0013c0031	a0013c0031t0016 a0013c0031t0016	a0013c0031t0016g0338 a0013c0031t0016g0338	1	388	0.0026	c.159 others(4): Show c.1591G>T	p.Val others(6): Show p.Val531Leu	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	13/14	1760/2935	1591/1734	531/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20540766	T T	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00423.hp1	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0025 a0015c0032t0025	a0015c0032t0025g0339 a0015c0032t0025g0339	1	388	0.0026	c.151 others(4): Show c.1517A>G	p.Lys others(6): Show p.Lys506Arg	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	13/14	1686/2935	1517/1734	506/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20542973	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02886.hp2 HG02896.hp2 others(1): Show HG02257.hp1 HG02886.hp2 HG02896.hp2 HG03453.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 others(1): Show a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109	4	388	0.0103	c.145 others(4): Show c.1450A>G	p.Lys others(6): Show p.Lys484Glu	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	12/14	1619/2935	1450/1734	484/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20543238	T T	A A	missense_variant missense_variant	MODERATE	HG02074.hp1 NA18953.hp2 NA18997.hp1 others(1): Show HG02074.hp1 NA18953.hp2 NA18997.hp1 NA19074.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0155 a0007c0014t0001g0166 a0007c0014t0001g0200 others(1): Show a0007c0014t0001g0155 a0007c0014t0001g0166 a0007c0014t0001g0200 a0007c0014t0001g0213	4	388	0.0103	c.130 others(4): Show c.1306A>T	p.Asn others(6): Show p.Asn436Tyr	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	11/14	1475/2935	1306/1734	436/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20543260	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00741.hp2 HG01099.hp2 HG01884.hp1 others(55): Show HG00741.hp2 HG01099.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03927.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp2 NA19043.hp2 NA20129.hp1	a0003 a0004 a0006 others(3): Show a0003 a0004 a0006 a0008 a0010 a0016	a0003c0007 a0003c0008 a0003c0025 others(8): Show a0003c0007 a0003c0008 a0003c0025 a0003c0033 a0004c0005 a0006c0010 a0006c0020 a0008c0013 a0010c0022 a0010c0023 a0016c0028	a0003c0007t0003 a0003c0007t0004 a0003c0007t0007 others(16): Show a0003c0007t0003 a0003c0007t0004 a0003c0007t0007 a0003c0007t0014 a0003c0008t0001 a0003c0008t0003 a0003c0008t0011 a0003c0008t0015 a0003c0025t0003 a0003c0033t0003 a0004c0005t0006 a0006c0010t0003 a0006c0010t0017 a0006c0020t0003 a0006c0020t0020 a0008c0013t0002 a0010c0022t0008 a0010c0023t0027 a0016c0028t0003	a0003c0007t0003g0119 a0003c0007t0003g0120 a0003c0007t0003g0240 others(53): Show a0003c0007t0003g0119 a0003c0007t0003g0120 a0003c0007t0003g0240 a0003c0007t0004g0310 a0003c0007t0007g0229 a0003c0007t0007g0281 a0003c0007t0007g0322 a0003c0007t0014g0340 a0003c0007t0014g0341 a0003c0007t0014g0342 a0003c0007t0014g0343 a0003c0008t0001g0319 a0003c0008t0003g0122 a0003c0008t0011g0316 a0003c0008t0011g0317 a0003c0008t0011g0320 a0003c0008t0011g0321 a0003c0008t0015g0031 a0003c0008t0015g0318 a0003c0025t0003g0121 a0003c0033t0003g0174 a0004c0005t0006g0040 a0004c0005t0006g0045 a0004c0005t0006g0086 a0004c0005t0006g0087 a0004c0005t0006g0088 a0004c0005t0006g0089 a0004c0005t0006g0091 a0004c0005t0006g0092 a0004c0005t0006g0093 a0004c0005t0006g0094 a0004c0005t0006g0095 a0004c0005t0006g0096 a0004c0005t0006g0097 a0004c0005t0006g0098 a0004c0005t0006g0099 a0004c0005t0006g0100 a0004c0005t0006g0101 a0004c0005t0006g0102 a0004c0005t0006g0103 a0006c0010t0003g0011 a0006c0010t0003g0114 a0006c0010t0003g0115 a0006c0010t0003g0116 a0006c0010t0003g0117 a0006c0010t0017g0037 a0006c0010t0017g0038 a0006c0020t0003g0105 a0006c0020t0020g0034 a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109 a0010c0022t0008g0325 a0010c0023t0027g0332 a0016c0028t0003g0118	58	388	0.1495	c.128 others(4): Show c.1284A>C	p.Glu others(6): Show p.Glu428Asp	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	11/14	1453/2935	1284/1734	428/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20545228	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0003 a0016c0028t0003	a0016c0028t0003g0118 a0016c0028t0003g0118	1	388	0.0026	c.121 others(4): Show c.1210C>T	p.Pro others(6): Show p.Pro404Ser	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	10/14	1379/2935	1210/1734	404/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20548455	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG02257.hp1 others(11): Show HG01884.hp2 HG02109.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02647.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp1	a0006 a0008 a0006 a0008	a0006c0010 a0006c0020 a0008c0013 a0006c0010 a0006c0020 a0008c0013	a0006c0010t0003 a0006c0010t0017 a0006c0020t0003 others(2): Show a0006c0010t0003 a0006c0010t0017 a0006c0020t0003 a0006c0020t0020 a0008c0013t0002	a0006c0010t0003g0011 a0006c0010t0003g0114 a0006c0010t0003g0115 others(10): Show a0006c0010t0003g0011 a0006c0010t0003g0114 a0006c0010t0003g0115 a0006c0010t0003g0116 a0006c0010t0003g0117 a0006c0010t0017g0037 a0006c0010t0017g0038 a0006c0020t0003g0105 a0006c0020t0020g0034 a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109	14	388	0.0361	c.913 others(3): Show c.913A>G	p.Ile others(6): Show p.Ile305Val	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	7/14	1082/2935	913/1734	305/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20552206	T T	C C	missense_variant missense_variant	MODERATE	HG00673.hp1 HG01099.hp2 HG01256.hp1 others(69): Show HG00673.hp1 HG01099.hp2 HG01256.hp1 HG01257.hp1 HG01884.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp2 HG02040.hp1 HG02074.hp2 HG02145.hp1 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03710.hp2 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18988.hp1 NA18994.hp1 NA19005.hp1 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19062.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19081.hp1 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0002 a0004 a0002 a0004	a0002c0003 a0002c0009 a0002c0018 others(3): Show a0002c0003 a0002c0009 a0002c0018 a0002c0019 a0002c0029 a0004c0005	a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 others(6): Show a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0009t0009 a0002c0018t0005 a0002c0018t0010 a0002c0019t0006 a0002c0029t0010 a0004c0005t0006	a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 others(65): Show a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 a0002c0003t0005g0043 a0002c0003t0005g0044 a0002c0003t0005g0046 a0002c0003t0005g0050 a0002c0003t0005g0051 a0002c0003t0005g0052 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0060 a0002c0003t0005g0064 a0002c0003t0005g0065 a0002c0003t0005g0066 a0002c0003t0005g0068 a0002c0003t0005g0069 a0002c0003t0005g0072 a0002c0003t0005g0074 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0081 a0002c0003t0005g0082 a0002c0003t0005g0084 a0002c0003t0005g0085 a0002c0003t0010g0004 a0002c0003t0010g0053 a0002c0003t0010g0083 a0002c0003t0013g0047 a0002c0003t0013g0048 a0002c0003t0013g0049 a0002c0003t0013g0079 a0002c0009t0009g0010 a0002c0009t0009g0054 a0002c0009t0009g0057 a0002c0009t0009g0061 a0002c0009t0009g0062 a0002c0009t0009g0063 a0002c0009t0009g0073 a0002c0009t0009g0076 a0002c0018t0005g0071 a0002c0018t0005g0075 a0002c0018t0010g0039 a0002c0019t0006g0067 a0002c0019t0006g0070 a0002c0019t0006g0090 a0002c0029t0010g0080 a0004c0005t0006g0040 a0004c0005t0006g0045 a0004c0005t0006g0086 a0004c0005t0006g0087 a0004c0005t0006g0088 a0004c0005t0006g0089 a0004c0005t0006g0091 a0004c0005t0006g0092 a0004c0005t0006g0093 a0004c0005t0006g0094 a0004c0005t0006g0095 a0004c0005t0006g0096 a0004c0005t0006g0097 a0004c0005t0006g0098 a0004c0005t0006g0099 a0004c0005t0006g0100 a0004c0005t0006g0101 a0004c0005t0006g0102 a0004c0005t0006g0103	72	388	0.1856	c.832 others(3): Show c.832A>G	p.Thr others(6): Show p.Thr278Ala	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	6/14	1001/2935	832/1734	278/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20559267	A A	T T	missense_variant missense_variant	MODERATE	NA18947.hp1 NA18947.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0018 a0012c0030t0018	a0012c0030t0018g0139 a0012c0030t0018g0139	1	388	0.0026	c.358 others(3): Show c.358T>A	p.Trp others(6): Show p.Trp120Arg	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	3/14	527/2935	358/1734	120/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20559339	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(372): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0002 a0001c0004 others(25): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0017 a0001c0027 a0002c0003 a0002c0009 a0002c0018 a0002c0019 a0002c0029 a0003c0007 a0003c0008 a0003c0025 a0003c0033 a0004c0005 a0006c0010 a0006c0020 a0007c0014 a0008c0013 a0009c0015 a0011c0021 a0012c0030 a0013c0031 a0014c0026 a0015c0032 a0016c0028	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(52): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0023 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0021 a0001c0002t0022 a0001c0002t0024 a0001c0004t0002 a0001c0004t0004 a0001c0004t0007 a0001c0006t0001 a0001c0006t0003 a0001c0006t0011 a0001c0012t0002 a0001c0012t0007 a0001c0017t0004 a0001c0027t0003 a0002c0003t0005 a0002c0003t0010 a0002c0003t0013 a0002c0009t0009 a0002c0018t0005 a0002c0018t0010 a0002c0019t0006 a0002c0029t0010 a0003c0007t0003 a0003c0007t0004 a0003c0007t0007 a0003c0007t0014 a0003c0008t0001 a0003c0008t0003 a0003c0008t0011 a0003c0008t0015 a0003c0025t0003 a0003c0033t0003 a0004c0005t0006 a0006c0010t0003 a0006c0010t0017 a0006c0020t0003 a0006c0020t0020 a0007c0014t0001 a0008c0013t0002 a0009c0015t0008 a0011c0021t0001 a0012c0030t0018 a0013c0031t0016 a0014c0026t0002 a0015c0032t0025 a0016c0028t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(328): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0157 a0001c0001t0003g0161 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0196 a0001c0001t0003g0206 a0001c0001t0008g0335 a0001c0001t0008g0336 a0001c0001t0008g0337 a0001c0001t0012g0008 a0001c0001t0012g0035 a0001c0001t0012g0036 a0001c0001t0018g0138 a0001c0001t0023g0208 a0001c0002t0002g0007 a0001c0002t0002g0025 a0001c0002t0002g0111 a0001c0002t0002g0222 a0001c0002t0002g0228 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0254 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0288 a0001c0002t0002g0291 a0001c0002t0002g0302 a0001c0002t0002g0315 a0001c0002t0003g0012 a0001c0002t0003g0029 a0001c0002t0003g0112 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0263 a0001c0002t0004g0003 a0001c0002t0004g0027 a0001c0002t0004g0028 a0001c0002t0004g0030 a0001c0002t0004g0220 a0001c0002t0004g0227 a0001c0002t0004g0264 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0004g0267 a0001c0002t0004g0270 a0001c0002t0004g0271 a0001c0002t0004g0273 a0001c0002t0004g0274 a0001c0002t0004g0275 a0001c0002t0004g0276 a0001c0002t0004g0277 a0001c0002t0004g0278 a0001c0002t0004g0279 a0001c0002t0004g0280 a0001c0002t0004g0283 a0001c0002t0004g0285 a0001c0002t0004g0287 a0001c0002t0004g0290 a0001c0002t0004g0295 a0001c0002t0004g0297 a0001c0002t0004g0298 a0001c0002t0004g0300 a0001c0002t0004g0301 a0001c0002t0004g0303 a0001c0002t0004g0304 a0001c0002t0004g0305 a0001c0002t0004g0308 a0001c0002t0004g0311 a0001c0002t0004g0312 a0001c0002t0004g0323 a0001c0002t0007g0104 a0001c0002t0007g0221 a0001c0002t0007g0224 a0001c0002t0007g0230 a0001c0002t0007g0231 a0001c0002t0007g0232 a0001c0002t0007g0294 a0001c0002t0021g0269 a0001c0002t0022g0309 a0001c0002t0024g0272 a0001c0004t0002g0013 a0001c0004t0002g0126 a0001c0004t0002g0127 a0001c0004t0002g0128 a0001c0004t0002g0129 a0001c0004t0002g0130 a0001c0004t0002g0133 a0001c0004t0002g0136 a0001c0004t0002g0137 a0001c0004t0002g0141 a0001c0004t0002g0143 a0001c0004t0002g0144 a0001c0004t0002g0149 a0001c0004t0002g0150 a0001c0004t0002g0151 a0001c0004t0002g0171 a0001c0004t0002g0175 a0001c0004t0002g0187 a0001c0004t0002g0188 a0001c0004t0002g0189 a0001c0004t0004g0021 a0001c0004t0004g0185 a0001c0004t0004g0186 a0001c0004t0004g0199 a0001c0004t0004g0209 a0001c0004t0004g0215 a0001c0004t0007g0016 a0001c0004t0007g0020 a0001c0004t0007g0202 a0001c0004t0007g0203 a0001c0004t0007g0217 a0001c0006t0001g0286 a0001c0006t0001g0289 a0001c0006t0001g0292 a0001c0006t0001g0293 a0001c0006t0001g0296 a0001c0006t0001g0299 a0001c0006t0001g0306 a0001c0006t0001g0307 a0001c0006t0003g0225 a0001c0006t0003g0226 a0001c0006t0003g0313 a0001c0006t0003g0314 a0001c0006t0011g0110 a0001c0012t0002g0245 a0001c0012t0007g0024 a0001c0012t0007g0223 a0001c0012t0007g0284 a0001c0017t0004g0026 a0001c0017t0004g0268 a0001c0027t0003g0282 a0002c0003t0005g0009 a0002c0003t0005g0041 a0002c0003t0005g0042 a0002c0003t0005g0043 a0002c0003t0005g0044 a0002c0003t0005g0046 a0002c0003t0005g0050 a0002c0003t0005g0051 a0002c0003t0005g0052 a0002c0003t0005g0055 a0002c0003t0005g0056 a0002c0003t0005g0058 a0002c0003t0005g0059 a0002c0003t0005g0060 a0002c0003t0005g0064 a0002c0003t0005g0065 a0002c0003t0005g0066 a0002c0003t0005g0068 a0002c0003t0005g0069 a0002c0003t0005g0072 a0002c0003t0005g0074 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0081 a0002c0003t0005g0082 a0002c0003t0005g0084 a0002c0003t0005g0085 a0002c0003t0010g0004 a0002c0003t0010g0053 a0002c0003t0010g0083 a0002c0003t0013g0047 a0002c0003t0013g0048 a0002c0003t0013g0049 a0002c0003t0013g0079 a0002c0009t0009g0010 a0002c0009t0009g0054 a0002c0009t0009g0057 a0002c0009t0009g0061 a0002c0009t0009g0062 a0002c0009t0009g0063 a0002c0009t0009g0073 a0002c0009t0009g0076 a0002c0018t0005g0071 a0002c0018t0005g0075 a0002c0018t0010g0039 a0002c0019t0006g0067 a0002c0019t0006g0070 a0002c0019t0006g0090 a0002c0029t0010g0080 a0003c0007t0003g0119 a0003c0007t0003g0120 a0003c0007t0003g0240 a0003c0007t0004g0310 a0003c0007t0007g0229 a0003c0007t0007g0281 a0003c0007t0007g0322 a0003c0007t0014g0340 a0003c0007t0014g0341 a0003c0007t0014g0342 a0003c0007t0014g0343 a0003c0008t0001g0319 a0003c0008t0003g0122 a0003c0008t0011g0316 a0003c0008t0011g0317 a0003c0008t0011g0320 a0003c0008t0011g0321 a0003c0008t0015g0031 a0003c0008t0015g0318 a0003c0025t0003g0121 a0003c0033t0003g0174 a0004c0005t0006g0040 a0004c0005t0006g0045 a0004c0005t0006g0086 a0004c0005t0006g0087 a0004c0005t0006g0088 a0004c0005t0006g0089 a0004c0005t0006g0091 a0004c0005t0006g0092 a0004c0005t0006g0093 a0004c0005t0006g0094 a0004c0005t0006g0095 a0004c0005t0006g0096 a0004c0005t0006g0097 a0004c0005t0006g0098 a0004c0005t0006g0099 a0004c0005t0006g0100 a0004c0005t0006g0101 a0004c0005t0006g0102 a0004c0005t0006g0103 a0006c0010t0003g0011 a0006c0010t0003g0114 a0006c0010t0003g0115 a0006c0010t0003g0116 a0006c0010t0003g0117 a0006c0010t0017g0037 a0006c0010t0017g0038 a0006c0020t0003g0105 a0006c0020t0020g0034 a0007c0014t0001g0155 a0007c0014t0001g0166 a0007c0014t0001g0200 a0007c0014t0001g0213 a0008c0013t0002g0106 a0008c0013t0002g0107 a0008c0013t0002g0108 a0008c0013t0002g0109 a0009c0015t0008g0032 a0009c0015t0008g0329 a0011c0021t0001g0193 a0011c0021t0001g0194 a0012c0030t0018g0139 a0013c0031t0016g0338 a0014c0026t0002g0113 a0015c0032t0025g0339 a0016c0028t0003g0118	375	388	0.9665	c.286 others(3): Show c.286A>G	p.Ile others(5): Show p.Ile96Val	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	3/14	455/2935	286/1734	96/577	chr16	TogoVar
ACSM2B_chr16_20531226_20581367	20559434	A A	G G	missense_variant missense_variant	MODERATE	HG03490.hp2 HG03492.hp2 HG03927.hp2 HG03490.hp2 HG03492.hp2 HG03927.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0008 a0009c0015t0008	a0009c0015t0008g0032 a0009c0015t0008g0329 a0009c0015t0008g0032 a0009c0015t0008g0329	3	388	0.0077	c.191 others(3): Show c.191T>C	p.Leu others(5): Show p.Leu64Pro	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	3/14	360/2935	191/1734	64/577	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20770095	A A	G G	missense_variant missense_variant	MODERATE	HG02486.hp2 HG03471.hp2 HG02486.hp2 HG03471.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0050 a0007c0009t0001g0050	2	356	0.0056	c.61A others(2): Show c.61A>G	p.Ile others(5): Show p.Ile21Val	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	2/14	224/2533	61/1761	21/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20770102	G G	A A	missense_variant missense_variant	MODERATE	NA18987.hp2 NA18987.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0126 a0008c0010t0001g0126	1	356	0.0028	c.68G others(2): Show c.68G>A	p.Gly others(5): Show p.Gly23Asp	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	2/14	231/2533	68/1761	23/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20770167	T T	C C	missense_variant missense_variant	MODERATE	HG03704.hp2 HG03927.hp2 HG03704.hp2 HG03927.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0094 a0006c0007t0001g0095 a0006c0007t0001g0094 a0006c0007t0001g0095	2	356	0.0056	c.133 others(3): Show c.133T>C	p.Ser others(5): Show p.Ser45Pro	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	2/14	296/2533	133/1761	45/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20780999	G G	C C	missense_variant missense_variant	MODERATE	NA18947.hp2 NA18989.hp2 NA19005.hp1 NA18947.hp2 NA18989.hp2 NA19005.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0003 a0005c0006t0001g0115 a0005c0006t0001g0003 a0005c0006t0001g0115	3	356	0.0084	c.808 others(3): Show c.808G>C	p.Asp others(6): Show p.Asp270His	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	6/14	971/2533	808/1761	270/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20781095	C C	T T	missense_variant missense_variant	MODERATE	HG00733.hp1 HG00733.hp1	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0001 a0013c0018t0001	a0013c0018t0001g0002 a0013c0018t0001g0002	1	356	0.0028	c.904 others(3): Show c.904C>T	p.His others(6): Show p.His302Tyr	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	6/14	1067/2533	904/1761	302/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20781113	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG02109.hp1 HG02280.hp1 others(10): Show HG01884.hp2 HG02109.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG03486.hp2 NA18522.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0024 a0003c0003t0001g0025 others(5): Show a0003c0003t0001g0011 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0061 a0003c0003t0001g0062 a0003c0003t0001g0064	13	356	0.0365	c.922 others(3): Show c.922C>A	p.Pro others(6): Show p.Pro308Thr	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	6/14	1085/2533	922/1761	308/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20781762	A A	G G	missense_variant missense_variant	MODERATE	HG02056.hp1 HG02056.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0001 a0012c0014t0001	a0012c0014t0001g0003 a0012c0014t0001g0003	1	356	0.0028	c.994 others(3): Show c.994A>G	p.Met others(6): Show p.Met332Val	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	7/14	1157/2533	994/1761	332/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20785065	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG00438.hp2 HG00558.hp2 others(41): Show HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG01168.hp1 HG01952.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02523.hp2 HG03209.hp2 HG03688.hp1 HG03710.hp1 HG04184.hp2 NA18947.hp2 NA18950.hp1 NA18954.hp1 NA18955.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19066.hp2 NA19072.hp2 NA19074.hp2 NA19080.hp1 NA19084.hp1 NA19090.hp1 NA20905.hp2	a0002 a0005 a0012 a0002 a0005 a0012	a0002c0002 a0005c0006 a0012c0014 a0002c0002 a0005c0006 a0012c0014	a0002c0002t0001 a0002c0002t0003 a0005c0006t0001 others(1): Show a0002c0002t0001 a0002c0002t0003 a0005c0006t0001 a0012c0014t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 others(22): Show a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0097 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0208 a0002c0002t0003g0116 a0005c0006t0001g0003 a0005c0006t0001g0115 a0012c0014t0001g0003	44	356	0.1236	c.110 others(4): Show c.1101G>C	p.Lys others(6): Show p.Lys367Asn	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	8/14	1264/2533	1101/1761	367/586	chr16	TogoVar
ACSM3_chr16_20759014_20802581	20792069	T T	C C	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0001 a0011c0011t0001	a0011c0011t0001g0131 a0011c0011t0001g0131	1	356	0.0028	c.139 others(4): Show c.1394T>C	p.Met others(6): Show p.Met465Thr	ACSM3	ENSG00000005187.12	transcript	ENST00000289416.10	protein_coding	11/14	1557/2533	1394/1761	465/586	chr16	TogoVar
ACSM4_chr12_7299072_7333719	7304386	C C	T T	missense_variant missense_variant	MODERATE	NA18945.hp2 NA18975.hp1 NA18983.hp2 NA18945.hp2 NA18975.hp1 NA18983.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0015 a0005c0008t0003g0015	3	430	0.0070	c.55C others(2): Show c.55C>T	p.Pro others(5): Show p.Pro19Ser	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	1/13	315/2349	55/1743	19/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7304476	C C	T T	missense_variant missense_variant	MODERATE	NA18981.hp1 NA19060.hp1 NA19088.hp2 NA18981.hp1 NA19060.hp1 NA19088.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0005 a0004c0007t0001g0041 a0004c0007t0001g0005 a0004c0007t0001g0041	3	430	0.0070	c.145 others(3): Show c.145C>T	p.Pro others(5): Show p.Pro49Ser	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	1/13	405/2349	145/1743	49/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7304509	G G	A A	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0025 a0010c0010t0001g0025	1	430	0.0023	c.178 others(3): Show c.178G>A	p.Asp others(5): Show p.Asp60Asn	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	1/13	438/2349	178/1743	60/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7306539	G G	A A	missense_variant missense_variant	MODERATE	HG03710.hp1 HG03710.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0002 a0009c0011t0002	a0009c0011t0002g0107 a0009c0011t0002g0107	1	430	0.0023	c.208 others(3): Show c.208G>A	p.Glu others(5): Show p.Glu70Lys	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	2/13	468/2349	208/1743	70/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7317141	G G	A A	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0072 a0008c0012t0001g0072	1	430	0.0023	c.625 others(3): Show c.625G>A	p.Ala others(6): Show p.Ala209Thr	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	4/13	885/2349	625/1743	209/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7322534	C C	T T	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0059 a0006c0016t0001g0059	1	430	0.0023	c.111 others(4): Show c.1118C>T	p.Thr others(6): Show p.Thr373Met	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	7/13	1378/2349	1118/1743	373/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7323549	T T	G G	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0072 a0008c0012t0001g0072	1	430	0.0023	c.129 others(4): Show c.1297T>G	p.Ser others(6): Show p.Ser433Ala	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	9/13	1557/2349	1297/1743	433/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7324504	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01891.hp1 HG01952.hp1 others(13): Show HG01358.hp1 HG01891.hp1 HG01952.hp1 HG02258.hp1 HG02486.hp1 HG02717.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03453.hp2 HG03516.hp2 NA19240.hp1 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0008 a0002c0003t0004g0071 a0002c0003t0004g0090 others(2): Show a0002c0003t0004g0008 a0002c0003t0004g0071 a0002c0003t0004g0090 a0002c0003t0004g0091 a0002c0003t0004g0092	16	430	0.0372	c.144 others(4): Show c.1442G>A	p.Arg others(6): Show p.Arg481His	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	11/13	1702/2349	1442/1743	481/580	chr12	TogoVar
ACSM4_chr12_7299072_7333719	7327004	C C	A A	missense_variant missense_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0051 a0007c0014t0001g0051	1	430	0.0023	c.156 others(4): Show c.1565C>A	p.Ala others(6): Show p.Ala522Glu	ACSM4	ENSG00000215009.6	transcript	ENST00000399422.5	protein_coding	12/13	1825/2349	1565/1743	522/580	chr12	TogoVar
ACSM5_chr16_20404534_20446336	20411529	C C	A A	missense_variant missense_variant	MODERATE	HG00597.hp2 NA18995.hp1 NA19063.hp1 others(1): Show HG00597.hp2 NA18995.hp1 NA19063.hp1 NA19079.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0057 a0010c0011t0001g0184 a0010c0011t0001g0240 others(1): Show a0010c0011t0001g0057 a0010c0011t0001g0184 a0010c0011t0001g0240 a0010c0011t0001g0244	4	434	0.0092	c.45C others(2): Show c.45C>A	p.Asn others(5): Show p.Asn15Lys	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	2/14	192/2796	45/1740	15/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20411678	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG01884.hp1 others(47): Show HG00438.hp1 HG00621.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp2 NA20300.hp2	a0004 a0006 a0007 others(5): Show a0004 a0006 a0007 a0008 a0012 a0013 a0019 a0020	a0004c0004 a0006c0006 a0007c0009 others(6): Show a0004c0004 a0006c0006 a0007c0009 a0007c0024 a0008c0008 a0012c0013 a0013c0014 a0019c0023 a0020c0022	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(11): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0006c0006t0007 a0006c0006t0008 a0006c0006t0011 a0007c0009t0006 a0007c0024t0006 a0008c0008t0006 a0012c0013t0008 a0013c0014t0005 a0019c0023t0008 a0020c0022t0005	a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 others(39): Show a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 a0004c0004t0005g0315 a0004c0004t0005g0316 a0004c0004t0005g0317 a0004c0004t0005g0318 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0004c0004t0005g0322 a0004c0004t0005g0325 a0004c0004t0005g0327 a0004c0004t0005g0328 a0004c0004t0005g0329 a0004c0004t0007g0310 a0004c0004t0015g0330 a0004c0004t0016g0312 a0006c0006t0007g0326 a0006c0006t0008g0038 a0006c0006t0008g0313 a0006c0006t0008g0323 a0006c0006t0011g0037 a0006c0006t0011g0324 a0007c0009t0006g0041 a0007c0009t0006g0042 a0007c0009t0006g0345 a0007c0009t0006g0346 a0007c0009t0006g0347 a0007c0024t0006g0041 a0008c0008t0006g0341 a0008c0008t0006g0342 a0008c0008t0006g0343 a0008c0008t0006g0344 a0008c0008t0006g0348 a0008c0008t0006g0349 a0008c0008t0006g0350 a0012c0013t0008g0033 a0012c0013t0008g0311 a0013c0014t0005g0034 a0019c0023t0008g0314 a0020c0022t0005g0036	50	434	0.1152	c.194 others(3): Show c.194G>A	p.Arg others(5): Show p.Arg65Gln	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	2/14	341/2796	194/1740	65/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20418224	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 NA20752.hp2 HG00140.hp1 NA20752.hp2	a0018 a0018	a0018c0020 a0018c0020	a0018c0020t0002 a0018c0020t0002	a0018c0020t0002g0022 a0018c0020t0002g0224 a0018c0020t0002g0022 a0018c0020t0002g0224	2	434	0.0046	c.370 others(3): Show c.370C>T	p.Arg others(6): Show p.Arg124Trp	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	3/14	517/2796	370/1740	124/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20419356	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG01884.hp1 others(54): Show HG00438.hp1 HG00621.hp2 HG01884.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0004 a0006 a0007 others(7): Show a0004 a0006 a0007 a0008 a0009 a0012 a0013 a0019 a0020 a0032	a0004c0004 a0006c0006 a0007c0009 others(8): Show a0004c0004 a0006c0006 a0007c0009 a0007c0024 a0008c0008 a0009c0010 a0012c0013 a0013c0014 a0019c0023 a0020c0022 a0032c0026	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(14): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0006c0006t0007 a0006c0006t0008 a0006c0006t0011 a0007c0009t0006 a0007c0024t0006 a0008c0008t0006 a0009c0010t0005 a0009c0010t0007 a0012c0013t0008 a0013c0014t0005 a0019c0023t0008 a0020c0022t0005 a0032c0026t0008	a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 others(46): Show a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 a0004c0004t0005g0315 a0004c0004t0005g0316 a0004c0004t0005g0317 a0004c0004t0005g0318 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0004c0004t0005g0322 a0004c0004t0005g0325 a0004c0004t0005g0327 a0004c0004t0005g0328 a0004c0004t0005g0329 a0004c0004t0007g0310 a0004c0004t0015g0330 a0004c0004t0016g0312 a0006c0006t0007g0326 a0006c0006t0008g0038 a0006c0006t0008g0313 a0006c0006t0008g0323 a0006c0006t0011g0037 a0006c0006t0011g0324 a0007c0009t0006g0041 a0007c0009t0006g0042 a0007c0009t0006g0345 a0007c0009t0006g0346 a0007c0009t0006g0347 a0007c0024t0006g0041 a0008c0008t0006g0341 a0008c0008t0006g0342 a0008c0008t0006g0343 a0008c0008t0006g0344 a0008c0008t0006g0348 a0008c0008t0006g0349 a0008c0008t0006g0350 a0009c0010t0005g0303 a0009c0010t0005g0308 a0009c0010t0007g0304 a0009c0010t0007g0305 a0009c0010t0007g0306 a0009c0010t0007g0307 a0012c0013t0008g0033 a0012c0013t0008g0311 a0013c0014t0005g0034 a0019c0023t0008g0314 a0020c0022t0005g0036 a0032c0026t0008g0309	57	434	0.1313	c.544 others(3): Show c.544G>A	p.Glu others(6): Show p.Glu182Lys	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	4/14	691/2796	544/1740	182/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421283	A A	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG01074.hp2 others(67): Show HG00438.hp1 HG00621.hp2 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01258.hp1 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03704.hp1 HG04199.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2	a0004 a0005 a0006 others(9): Show a0004 a0005 a0006 a0007 a0008 a0009 a0012 a0013 a0019 a0020 a0031 a0032	a0004c0004 a0005c0005 a0006c0006 others(10): Show a0004c0004 a0005c0005 a0006c0006 a0007c0009 a0007c0024 a0008c0008 a0009c0010 a0012c0013 a0013c0014 a0019c0023 a0020c0022 a0031c0025 a0032c0026	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(18): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0005c0005t0003 a0005c0005t0009 a0005c0005t0012 a0006c0006t0007 a0006c0006t0008 a0006c0006t0011 a0007c0009t0006 a0007c0024t0006 a0008c0008t0006 a0009c0010t0005 a0009c0010t0007 a0012c0013t0008 a0013c0014t0005 a0019c0023t0008 a0020c0022t0005 a0031c0025t0006 a0032c0026t0008	a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 others(57): Show a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 a0004c0004t0005g0315 a0004c0004t0005g0316 a0004c0004t0005g0317 a0004c0004t0005g0318 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0004c0004t0005g0322 a0004c0004t0005g0325 a0004c0004t0005g0327 a0004c0004t0005g0328 a0004c0004t0005g0329 a0004c0004t0007g0310 a0004c0004t0015g0330 a0004c0004t0016g0312 a0005c0005t0003g0254 a0005c0005t0009g0040 a0005c0005t0009g0335 a0005c0005t0009g0336 a0005c0005t0009g0337 a0005c0005t0009g0338 a0005c0005t0009g0339 a0005c0005t0009g0364 a0005c0005t0012g0039 a0005c0005t0012g0334 a0006c0006t0007g0326 a0006c0006t0008g0038 a0006c0006t0008g0313 a0006c0006t0008g0323 a0006c0006t0011g0037 a0006c0006t0011g0324 a0007c0009t0006g0041 a0007c0009t0006g0042 a0007c0009t0006g0345 a0007c0009t0006g0346 a0007c0009t0006g0347 a0007c0024t0006g0041 a0008c0008t0006g0341 a0008c0008t0006g0342 a0008c0008t0006g0343 a0008c0008t0006g0344 a0008c0008t0006g0348 a0008c0008t0006g0349 a0008c0008t0006g0350 a0009c0010t0005g0303 a0009c0010t0005g0308 a0009c0010t0007g0304 a0009c0010t0007g0305 a0009c0010t0007g0306 a0009c0010t0007g0307 a0012c0013t0008g0033 a0012c0013t0008g0311 a0013c0014t0005g0034 a0019c0023t0008g0314 a0020c0022t0005g0036 a0031c0025t0006g0340 a0032c0026t0008g0309	70	434	0.1613	c.649 others(3): Show c.649A>G	p.Met others(6): Show p.Met217Val	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	796/2796	649/1740	217/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421343	C C	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp1	a0030 a0030	a0030c0027 a0030c0027	a0030c0027t0002 a0030c0027t0002	a0030c0027t0002g0193 a0030c0027t0002g0193	1	434	0.0023	c.709 others(3): Show c.709C>A	p.Pro others(6): Show p.Pro237Thr	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	856/2796	709/1740	237/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20421343	C C	G G	missense_variant missense_variant	MODERATE	NA19001.hp1 NA19001.hp1	a0022 a0022	a0022c0039 a0022c0039	a0022c0039t0002 a0022c0039t0002	a0022c0039t0002g0216 a0022c0039t0002g0216	1	434	0.0023	c.709 others(3): Show c.709C>G	p.Pro others(6): Show p.Pro237Ala	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	5/14	856/2796	709/1740	237/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20423939	C C	T T	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03491.hp2 HG03492.hp1 HG03704.hp1	a0013 a0019 a0013 a0019	a0013c0014 a0019c0023 a0013c0014 a0019c0023	a0013c0014t0005 a0019c0023t0008 a0013c0014t0005 a0019c0023t0008	a0013c0014t0005g0034 a0019c0023t0008g0314 a0013c0014t0005g0034 a0019c0023t0008g0314	3	434	0.0069	c.791 others(3): Show c.791C>T	p.Ser others(6): Show p.Ser264Phe	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	6/14	938/2796	791/1740	264/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20423992	C C	T T	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00621.hp2 HG02040.hp2 others(37): Show HG00438.hp1 HG00621.hp2 HG02040.hp2 HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03540.hp2 HG04199.hp2 NA18612.hp2 NA18940.hp2 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18960.hp1 NA18967.hp2 NA18974.hp1 NA18980.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19063.hp2 NA19070.hp1 NA19083.hp2 NA19240.hp1 NA19240.hp2	a0004 a0006 a0009 others(3): Show a0004 a0006 a0009 a0012 a0020 a0032	a0004c0004 a0006c0006 a0009c0010 others(3): Show a0004c0004 a0006c0006 a0009c0010 a0012c0013 a0020c0022 a0032c0026	a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 others(9): Show a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0006c0006t0007 a0006c0006t0008 a0006c0006t0011 a0009c0010t0005 a0009c0010t0007 a0012c0013t0008 a0020c0022t0005 a0032c0026t0008	a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 others(31): Show a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 a0004c0004t0005g0315 a0004c0004t0005g0316 a0004c0004t0005g0317 a0004c0004t0005g0318 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0004c0004t0005g0322 a0004c0004t0005g0325 a0004c0004t0005g0327 a0004c0004t0005g0328 a0004c0004t0005g0329 a0004c0004t0007g0310 a0004c0004t0015g0330 a0004c0004t0016g0312 a0006c0006t0007g0326 a0006c0006t0008g0038 a0006c0006t0008g0313 a0006c0006t0008g0323 a0006c0006t0011g0037 a0006c0006t0011g0324 a0009c0010t0005g0303 a0009c0010t0005g0308 a0009c0010t0007g0304 a0009c0010t0007g0305 a0009c0010t0007g0306 a0009c0010t0007g0307 a0012c0013t0008g0033 a0012c0013t0008g0311 a0020c0022t0005g0036 a0032c0026t0008g0309	40	434	0.0922	c.844 others(3): Show c.844C>T	p.Leu others(6): Show p.Leu282Phe	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	6/14	991/2796	844/1740	282/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20424049	G G	C C	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0020 a0020	a0020c0022 a0020c0022	a0020c0022t0005 a0020c0022t0005	a0020c0022t0005g0036 a0020c0022t0005g0036	1	434	0.0023	c.901 others(3): Show c.901G>C	p.Asp others(6): Show p.Asp301His	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	6/14	1048/2796	901/1740	301/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20427830	A A	G G	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0023 a0023	a0023c0038 a0023c0038	a0023c0038t0013 a0023c0038t0013	a0023c0038t0013g0298 a0023c0038t0013g0298	1	434	0.0023	c.964 others(3): Show c.964A>G	p.Thr others(6): Show p.Thr322Ala	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	7/14	1111/2796	964/1740	322/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20427840	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp1 HG03942.hp1 HG01358.hp1 HG03942.hp1	a0024 a0025 a0024 a0025	a0024c0029 a0025c0030 a0024c0029 a0025c0030	a0024c0029t0002 a0025c0030t0001 a0024c0029t0002 a0025c0030t0001	a0024c0029t0002g0022 a0025c0030t0001g0253 a0024c0029t0002g0022 a0025c0030t0001g0253	2	434	0.0046	c.974 others(3): Show c.974G>A	p.Arg others(6): Show p.Arg325Gln	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	7/14	1121/2796	974/1740	325/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429698	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(60): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03669.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2	a0003 a0005 a0012 others(2): Show a0003 a0005 a0012 a0021 a0023	a0003c0003 a0005c0005 a0012c0013 others(2): Show a0003c0003 a0005c0005 a0012c0013 a0021c0042 a0023c0038	a0003c0003t0001 a0003c0003t0003 a0005c0005t0003 others(5): Show a0003c0003t0001 a0003c0003t0003 a0005c0005t0003 a0005c0005t0009 a0005c0005t0012 a0012c0013t0008 a0021c0042t0003 a0023c0038t0013	a0003c0003t0001g0098 a0003c0003t0001g0234 a0003c0003t0003g0008 others(53): Show a0003c0003t0001g0098 a0003c0003t0001g0234 a0003c0003t0003g0008 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0080 a0003c0003t0003g0090 a0003c0003t0003g0095 a0003c0003t0003g0096 a0003c0003t0003g0103 a0003c0003t0003g0108 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0117 a0003c0003t0003g0137 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0195 a0003c0003t0003g0198 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0214 a0003c0003t0003g0226 a0003c0003t0003g0228 a0003c0003t0003g0247 a0003c0003t0003g0255 a0003c0003t0003g0293 a0005c0005t0003g0254 a0005c0005t0009g0040 a0005c0005t0009g0335 a0005c0005t0009g0336 a0005c0005t0009g0337 a0005c0005t0009g0338 a0005c0005t0009g0339 a0005c0005t0009g0364 a0005c0005t0012g0039 a0005c0005t0012g0334 a0012c0013t0008g0033 a0012c0013t0008g0311 a0021c0042t0003g0118 a0023c0038t0013g0298	63	434	0.1452	c.102 others(4): Show c.1022G>A	p.Arg others(6): Show p.Arg341Lys	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1169/2796	1022/1740	341/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429730	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02109.hp2 HG02615.hp1 others(4): Show HG01884.hp1 HG02109.hp2 HG02615.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2	a0007 a0007	a0007c0009 a0007c0024 a0007c0009 a0007c0024	a0007c0009t0006 a0007c0024t0006 a0007c0009t0006 a0007c0024t0006	a0007c0009t0006g0041 a0007c0009t0006g0042 a0007c0009t0006g0345 others(3): Show a0007c0009t0006g0041 a0007c0009t0006g0042 a0007c0009t0006g0345 a0007c0009t0006g0346 a0007c0009t0006g0347 a0007c0024t0006g0041	7	434	0.0161	c.105 others(4): Show c.1054C>T	p.Pro others(6): Show p.Pro352Ser	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1201/2796	1054/1740	352/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429731	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00408.hp1 HG00438.hp2 others(215): Show HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(12): Show a0001 a0004 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0016 a0017 a0020 a0025 a0029 a0031	a0001c0001 a0001c0007 a0001c0021 others(19): Show a0001c0001 a0001c0007 a0001c0021 a0001c0036 a0001c0037 a0001c0040 a0001c0041 a0004c0004 a0007c0009 a0007c0024 a0008c0008 a0009c0010 a0010c0011 a0011c0012 a0013c0014 a0014c0019 a0016c0017 a0017c0018 a0020c0022 a0025c0030 a0029c0035 a0031c0025	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0018 a0001c0007t0007 a0001c0007t0011 a0001c0021t0006 a0001c0036t0002 a0001c0037t0010 a0001c0040t0001 a0001c0041t0001 a0004c0004t0005 a0004c0004t0007 a0004c0004t0015 a0004c0004t0016 a0007c0009t0006 a0007c0024t0006 a0008c0008t0006 a0009c0010t0005 a0009c0010t0007 a0010c0011t0001 a0011c0012t0001 a0013c0014t0005 a0014c0019t0001 a0014c0019t0021 a0016c0017t0010 a0017c0018t0001 a0020c0022t0005 a0025c0030t0001 a0029c0035t0001 a0031c0025t0006	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(187): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0283 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0002g0147 a0001c0001t0002g0164 a0001c0001t0002g0182 a0001c0001t0003g0130 a0001c0001t0004g0018 a0001c0001t0004g0133 a0001c0001t0005g0299 a0001c0001t0005g0300 a0001c0001t0006g0296 a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0010g0025 a0001c0001t0010g0266 a0001c0001t0013g0295 a0001c0001t0014g0021 a0001c0001t0018g0126 a0001c0007t0007g0355 a0001c0007t0007g0356 a0001c0007t0007g0357 a0001c0007t0007g0358 a0001c0007t0007g0359 a0001c0007t0007g0360 a0001c0007t0007g0362 a0001c0007t0011g0363 a0001c0021t0006g0297 a0001c0036t0002g0256 a0001c0037t0010g0285 a0001c0040t0001g0238 a0001c0041t0001g0102 a0004c0004t0005g0012 a0004c0004t0005g0035 a0004c0004t0005g0036 a0004c0004t0005g0315 a0004c0004t0005g0316 a0004c0004t0005g0317 a0004c0004t0005g0318 a0004c0004t0005g0319 a0004c0004t0005g0320 a0004c0004t0005g0321 a0004c0004t0005g0322 a0004c0004t0005g0325 a0004c0004t0005g0327 a0004c0004t0005g0328 a0004c0004t0005g0329 a0004c0004t0007g0310 a0004c0004t0015g0330 a0004c0004t0016g0312 a0007c0009t0006g0041 a0007c0009t0006g0042 a0007c0009t0006g0345 a0007c0009t0006g0346 a0007c0009t0006g0347 a0007c0024t0006g0041 a0008c0008t0006g0341 a0008c0008t0006g0342 a0008c0008t0006g0343 a0008c0008t0006g0344 a0008c0008t0006g0348 a0008c0008t0006g0349 a0008c0008t0006g0350 a0009c0010t0005g0303 a0009c0010t0005g0308 a0009c0010t0007g0304 a0009c0010t0007g0305 a0009c0010t0007g0306 a0009c0010t0007g0307 a0010c0011t0001g0057 a0010c0011t0001g0184 a0010c0011t0001g0240 a0010c0011t0001g0244 a0011c0012t0001g0023 a0011c0012t0001g0223 a0011c0012t0001g0227 a0013c0014t0005g0034 a0014c0019t0001g0252 a0014c0019t0021g0106 a0016c0017t0010g0050 a0016c0017t0010g0051 a0017c0018t0001g0011 a0017c0018t0001g0156 a0020c0022t0005g0036 a0025c0030t0001g0253 a0029c0035t0001g0189 a0031c0025t0006g0340	218	434	0.5023	c.105 others(4): Show c.1055C>G	p.Pro others(6): Show p.Pro352Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1202/2796	1055/1740	352/579	chr16	TogoVar
ACSM5_chr16_20404534_20446336	20429755	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(60): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01884.hp2 HG01978.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03669.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18975.hp2 NA18981.hp1 NA18981.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA19005.hp1 NA19005.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19082.hp2 NA19083.hp1 NA19087.hp2 NA19090.hp2	a0003 a0005 a0012 others(2): Show a0003 a0005 a0012 a0021 a0023	a0003c0003 a0005c0005 a0012c0013 others(2): Show a0003c0003 a0005c0005 a0012c0013 a0021c0042 a0023c0038	a0003c0003t0001 a0003c0003t0003 a0005c0005t0003 others(5): Show a0003c0003t0001 a0003c0003t0003 a0005c0005t0003 a0005c0005t0009 a0005c0005t0012 a0012c0013t0008 a0021c0042t0003 a0023c0038t0013	a0003c0003t0001g0098 a0003c0003t0001g0234 a0003c0003t0003g0008 others(53): Show a0003c0003t0001g0098 a0003c0003t0001g0234 a0003c0003t0003g0008 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0080 a0003c0003t0003g0090 a0003c0003t0003g0095 a0003c0003t0003g0096 a0003c0003t0003g0103 a0003c0003t0003g0108 a0003c0003t0003g0109 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0003g0113 a0003c0003t0003g0114 a0003c0003t0003g0115 a0003c0003t0003g0117 a0003c0003t0003g0137 a0003c0003t0003g0140 a0003c0003t0003g0143 a0003c0003t0003g0144 a0003c0003t0003g0145 a0003c0003t0003g0165 a0003c0003t0003g0166 a0003c0003t0003g0167 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0171 a0003c0003t0003g0195 a0003c0003t0003g0198 a0003c0003t0003g0204 a0003c0003t0003g0205 a0003c0003t0003g0206 a0003c0003t0003g0214 a0003c0003t0003g0226 a0003c0003t0003g0228 a0003c0003t0003g0247 a0003c0003t0003g0255 a0003c0003t0003g0293 a0005c0005t0003g0254 a0005c0005t0009g0040 a0005c0005t0009g0335 a0005c0005t0009g0336 a0005c0005t0009g0337 a0005c0005t0009g0338 a0005c0005t0009g0339 a0005c0005t0009g0364 a0005c0005t0012g0039 a0005c0005t0012g0334 a0012c0013t0008g0033 a0012c0013t0008g0311 a0021c0042t0003g0118 a0023c0038t0013g0298	63	434	0.1452	c.107 others(4): Show c.1079A>G	p.His others(6): Show p.His360Arg	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	8/14	1226/2796	1079/1740	360/579	chr16	TogoVar

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