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
ABCG5_chr2_43807472_43843839	43838630	A A	C C	missense_variant missense_variant	MODERATE	HG03195.hp2 HG03195.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0002 a0008c0008t0002	a0008c0008t0002g0034 a0008c0008t0002g0034	1	330	0.0030	c.50T others(2): Show c.50T>G	p.Val others(5): Show p.Val17Gly	ABCG5	ENSG00000138075.14	transcript	ENST00000405322.8	protein_coding	1/13	210/2760	50/1956	17/651	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43839108	G G	C C	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00741.hp2 HG01943.hp1 others(12): Show HG00438.hp1 HG00741.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG03098.hp2 HG03209.hp2 HG03471.hp1 HG03491.hp2 HG03834.hp2 HG04184.hp1 NA20129.hp2	a0006 a0010 a0006 a0010	a0006c0005 a0010c0013 a0006c0005 a0010c0013	a0006c0005t0002 a0006c0005t0003 a0006c0005t0027 others(6): Show a0006c0005t0002 a0006c0005t0003 a0006c0005t0027 a0006c0005t0045 a0006c0005t0097 a0006c0005t0118 a0010c0013t0006 a0010c0013t0017 a0010c0013t0121	a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0003g0023 others(11): Show a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0003g0023 a0006c0005t0003g0218 a0006c0005t0003g0219 a0006c0005t0003g0244 a0006c0005t0003g0259 a0006c0005t0027g0220 a0006c0005t0045g0243 a0006c0005t0097g0246 a0006c0005t0118g0221 a0010c0013t0006g0168 a0010c0013t0017g0167 a0010c0013t0121g0183	15	318	0.0472	c.55G others(2): Show c.55G>C	p.Asp others(5): Show p.Asp19His	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	1/13	138/7180	55/2022	19/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43844537	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02559.hp2 HG03098.hp1 others(2): Show HG02109.hp2 HG02559.hp2 HG03098.hp1 HG03209.hp1 NA20300.hp2	a0009 a0011 a0009 a0011	a0009c0012 a0011c0031 a0009c0012 a0011c0031	a0009c0012t0025 a0009c0012t0078 a0011c0031t0049 a0009c0012t0025 a0009c0012t0078 a0011c0031t0049	a0009c0012t0025g0027 a0009c0012t0025g0028 a0009c0012t0025g0029 others(2): Show a0009c0012t0025g0027 a0009c0012t0025g0028 a0009c0012t0025g0029 a0009c0012t0078g0024 a0011c0031t0049g0025	5	318	0.0157	c.94A others(2): Show c.94A>G	p.Ser others(5): Show p.Ser32Gly	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	2/13	177/7180	94/2022	32/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43844597	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02897.hp1 HG03195.hp2 others(3): Show HG02896.hp2 HG02897.hp1 HG03195.hp2 HG03516.hp1 HG06807.hp1 NA20300.hp1	a0008 a0018 a0008 a0018	a0008c0015 a0008c0016 a0008c0018 others(1): Show a0008c0015 a0008c0016 a0008c0018 a0018c0019	a0008c0015t0012 a0008c0016t0108 a0008c0016t0109 others(2): Show a0008c0015t0012 a0008c0016t0108 a0008c0016t0109 a0008c0018t0002 a0018c0019t0122	a0008c0015t0012g0017 a0008c0016t0108g0206 a0008c0016t0109g0207 others(2): Show a0008c0015t0012g0017 a0008c0016t0108g0206 a0008c0016t0109g0207 a0008c0018t0002g0176 a0018c0019t0122g0215	6	318	0.0189	c.154 others(3): Show c.154C>G	p.Leu others(5): Show p.Leu52Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	2/13	237/7180	154/2022	52/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43844604	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00280.hp1 HG00438.hp2 others(122): Show HG00099.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02572.hp1 HG02602.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp1 HG03490.hp2 HG03579.hp2 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1	a0001 a0004 a0012 others(1): Show a0001 a0004 a0012 a0013	a0001c0001 a0001c0008 a0004c0007 others(2): Show a0001c0001 a0001c0008 a0004c0007 a0012c0030 a0013c0029	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(44): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0052 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0008t0008 a0001c0008t0014 a0001c0008t0031 a0001c0008t0054 a0001c0008t0058 a0001c0008t0079 a0004c0007t0007 a0004c0007t0055 a0004c0007t0056 a0012c0030t0051 a0013c0029t0070	a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0059 others(114): Show a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0047 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0128 a0001c0001t0004g0140 a0001c0001t0005g0002 a0001c0001t0005g0054 a0001c0001t0005g0075 a0001c0001t0005g0086 a0001c0001t0005g0089 a0001c0001t0005g0110 a0001c0001t0005g0123 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0009g0007 a0001c0001t0009g0060 a0001c0001t0009g0077 a0001c0001t0009g0097 a0001c0001t0009g0114 a0001c0001t0009g0122 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0116 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0014g0065 a0001c0001t0015g0057 a0001c0001t0015g0142 a0001c0001t0018g0003 a0001c0001t0018g0100 a0001c0001t0019g0051 a0001c0001t0019g0066 a0001c0001t0019g0079 a0001c0001t0019g0132 a0001c0001t0020g0010 a0001c0001t0020g0084 a0001c0001t0020g0112 a0001c0001t0020g0145 a0001c0001t0031g0046 a0001c0001t0032g0070 a0001c0001t0032g0126 a0001c0001t0033g0111 a0001c0001t0033g0113 a0001c0001t0034g0074 a0001c0001t0034g0088 a0001c0001t0035g0008 a0001c0001t0035g0138 a0001c0001t0036g0007 a0001c0001t0036g0076 a0001c0001t0037g0056 a0001c0001t0037g0121 a0001c0001t0038g0052 a0001c0001t0038g0053 a0001c0001t0052g0081 a0001c0001t0057g0107 a0001c0001t0059g0136 a0001c0001t0060g0087 a0001c0001t0061g0135 a0001c0001t0062g0010 a0001c0001t0063g0104 a0001c0001t0064g0133 a0001c0001t0065g0048 a0001c0001t0067g0120 a0001c0001t0069g0109 a0001c0001t0071g0106 a0001c0001t0072g0096 a0001c0001t0073g0067 a0001c0001t0074g0049 a0001c0001t0075g0090 a0001c0001t0076g0085 a0001c0001t0077g0102 a0001c0008t0008g0274 a0001c0008t0014g0069 a0001c0008t0014g0071 a0001c0008t0014g0072 a0001c0008t0014g0144 a0001c0008t0031g0152 a0001c0008t0054g0141 a0001c0008t0058g0068 a0001c0008t0079g0073 a0004c0007t0007g0006 a0004c0007t0007g0013 a0004c0007t0007g0055 a0004c0007t0007g0064 a0004c0007t0007g0103 a0004c0007t0007g0124 a0004c0007t0007g0131 a0004c0007t0007g0143 a0004c0007t0007g0148 a0004c0007t0055g0013 a0004c0007t0056g0155 a0012c0030t0051g0078 a0013c0029t0070g0119	125	318	0.3931	c.161 others(3): Show c.161A>G	p.Tyr others(5): Show p.Tyr54Cys	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	2/13	244/7180	161/2022	54/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43846228	G G	A A	missense_variant missense_variant	MODERATE	HG01346.hp2 HG02109.hp2 HG02486.hp1 others(9): Show HG01346.hp2 HG02109.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02896.hp1 HG03098.hp1 HG03209.hp1 NA18522.hp2 NA18906.hp2 NA20300.hp2 NA21309.hp1	a0007 a0009 a0011 a0007 a0009 a0011	a0007c0009 a0007c0020 a0009c0012 others(1): Show a0007c0009 a0007c0020 a0009c0012 a0011c0031	a0007c0009t0024 a0007c0009t0030 a0007c0009t0053 others(4): Show a0007c0009t0024 a0007c0009t0030 a0007c0009t0053 a0007c0020t0066 a0009c0012t0025 a0009c0012t0078 a0011c0031t0049	a0007c0009t0024g0005 a0007c0009t0024g0032 a0007c0009t0030g0033 others(8): Show a0007c0009t0024g0005 a0007c0009t0024g0032 a0007c0009t0030g0033 a0007c0009t0030g0034 a0007c0009t0053g0031 a0007c0020t0066g0026 a0009c0012t0025g0027 a0009c0012t0025g0028 a0009c0012t0025g0029 a0009c0012t0078g0024 a0011c0031t0049g0025	12	318	0.0377	c.239 others(3): Show c.239G>A	p.Cys others(5): Show p.Cys80Tyr	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	3/13	322/7180	239/2022	80/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852420	G G	A A	missense_variant missense_variant	MODERATE	HG01346.hp2 HG02486.hp1 HG02630.hp1 others(4): Show HG01346.hp2 HG02486.hp1 HG02630.hp1 HG02896.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp1	a0007 a0007	a0007c0009 a0007c0020 a0007c0009 a0007c0020	a0007c0009t0024 a0007c0009t0030 a0007c0009t0053 others(1): Show a0007c0009t0024 a0007c0009t0030 a0007c0009t0053 a0007c0020t0066	a0007c0009t0024g0005 a0007c0009t0024g0032 a0007c0009t0030g0033 others(3): Show a0007c0009t0024g0005 a0007c0009t0024g0032 a0007c0009t0030g0033 a0007c0009t0030g0034 a0007c0009t0053g0031 a0007c0020t0066g0026	7	318	0.0220	c.628 others(3): Show c.628G>A	p.Val others(6): Show p.Val210Met	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	5/13	711/7180	628/2022	210/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852601	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0047 a0017c0028t0047	a0017c0028t0047g0291 a0017c0028t0047g0291	1	318	0.0031	c.697 others(3): Show c.697A>G	p.Ile others(6): Show p.Ile233Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/13	780/7180	697/2022	233/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852626	C C	T T	missense_variant missense_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0051 a0012c0030t0051	a0012c0030t0051g0078 a0012c0030t0051g0078	1	318	0.0031	c.722 others(3): Show c.722C>T	p.Ser others(6): Show p.Ser241Phe	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/13	805/7180	722/2022	241/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43852664	A A	G G	missense_variant missense_variant	MODERATE	NA18987.hp1 NA18987.hp1	a0014 a0014	a0014c0027 a0014c0027	a0014c0027t0006 a0014c0027t0006	a0014c0027t0006g0232 a0014c0027t0006g0232	1	318	0.0031	c.760 others(3): Show c.760A>G	p.Thr others(6): Show p.Thr254Ala	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	6/13	843/7180	760/2022	254/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43871979	A A	T T	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0013 a0013	a0013c0029 a0013c0029	a0013c0029t0070 a0013c0029t0070	a0013c0029t0070g0119 a0013c0029t0070g0119	1	318	0.0031	c.968 others(3): Show c.968A>T	p.Asp others(6): Show p.Asp323Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	7/13	1051/7180	968/2022	323/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43872294	C C	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00621.hp1 others(85): Show HG00280.hp2 HG00323.hp1 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02055.hp2 HG02083.hp1 HG02148.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp2 HG03834.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp1 NA18981.hp1 NA18987.hp1 NA18998.hp2 NA19005.hp1 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19066.hp1 NA19085.hp2 NA19086.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0008 a0010 others(2): Show a0002 a0008 a0010 a0014 a0015	a0002c0003 a0002c0004 a0002c0024 others(7): Show a0002c0003 a0002c0004 a0002c0024 a0002c0026 a0008c0015 a0008c0016 a0008c0018 a0010c0013 a0014c0027 a0015c0023	a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 others(39): Show a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0016 a0002c0003t0017 a0002c0003t0023 a0002c0003t0027 a0002c0003t0039 a0002c0003t0045 a0002c0003t0048 a0002c0003t0094 a0002c0003t0096 a0002c0003t0099 a0002c0003t0103 a0002c0003t0105 a0002c0003t0106 a0002c0003t0107 a0002c0003t0111 a0002c0003t0113 a0002c0003t0115 a0002c0003t0119 a0002c0004t0008 a0002c0004t0011 a0002c0004t0013 a0002c0004t0041 a0002c0004t0042 a0002c0004t0084 a0002c0004t0085 a0002c0004t0088 a0002c0004t0091 a0002c0024t0117 a0002c0026t0095 a0008c0015t0012 a0008c0016t0108 a0008c0016t0109 a0008c0018t0002 a0010c0013t0006 a0010c0013t0017 a0010c0013t0121 a0014c0027t0006 a0015c0023t0090	a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0197 others(81): Show a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0197 a0002c0003t0002g0210 a0002c0003t0002g0231 a0002c0003t0002g0234 a0002c0003t0002g0254 a0002c0003t0003g0196 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0248 a0002c0003t0006g0193 a0002c0003t0006g0194 a0002c0003t0006g0198 a0002c0003t0006g0199 a0002c0003t0006g0200 a0002c0003t0006g0201 a0002c0003t0006g0229 a0002c0003t0006g0230 a0002c0003t0006g0233 a0002c0003t0006g0256 a0002c0003t0012g0147 a0002c0003t0012g0177 a0002c0003t0016g0004 a0002c0003t0016g0239 a0002c0003t0016g0240 a0002c0003t0016g0252 a0002c0003t0017g0019 a0002c0003t0017g0195 a0002c0003t0017g0237 a0002c0003t0023g0251 a0002c0003t0027g0235 a0002c0003t0039g0022 a0002c0003t0045g0169 a0002c0003t0048g0004 a0002c0003t0048g0236 a0002c0003t0094g0170 a0002c0003t0096g0249 a0002c0003t0099g0035 a0002c0003t0103g0019 a0002c0003t0105g0184 a0002c0003t0106g0255 a0002c0003t0107g0171 a0002c0003t0111g0178 a0002c0003t0113g0203 a0002c0003t0115g0173 a0002c0003t0119g0186 a0002c0004t0008g0180 a0002c0004t0008g0181 a0002c0004t0008g0182 a0002c0004t0008g0213 a0002c0004t0008g0265 a0002c0004t0008g0271 a0002c0004t0008g0272 a0002c0004t0011g0042 a0002c0004t0011g0185 a0002c0004t0011g0187 a0002c0004t0011g0188 a0002c0004t0011g0190 a0002c0004t0011g0225 a0002c0004t0011g0262 a0002c0004t0013g0018 a0002c0004t0013g0179 a0002c0004t0013g0211 a0002c0004t0013g0212 a0002c0004t0013g0258 a0002c0004t0041g0020 a0002c0004t0042g0228 a0002c0004t0042g0247 a0002c0004t0084g0226 a0002c0004t0085g0018 a0002c0004t0088g0227 a0002c0004t0091g0257 a0002c0024t0117g0250 a0002c0026t0095g0192 a0008c0015t0012g0017 a0008c0016t0108g0206 a0008c0016t0109g0207 a0008c0018t0002g0176 a0010c0013t0006g0168 a0010c0013t0017g0167 a0010c0013t0121g0183 a0014c0027t0006g0232 a0015c0023t0090g0208	88	318	0.2767	c.119 others(4): Show c.1199C>A	p.Thr others(6): Show p.Thr400Lys	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	8/13	1282/7180	1199/2022	400/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43877786	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(290): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 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 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.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 HG02738.hp2 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.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0016 a0017 a0018	a0001c0001 a0001c0008 a0002c0003 others(25): Show a0001c0001 a0001c0008 a0002c0003 a0002c0004 a0002c0024 a0002c0026 a0003c0002 a0003c0010 a0003c0011 a0003c0014 a0003c0017 a0003c0021 a0003c0022 a0006c0005 a0007c0009 a0007c0020 a0008c0015 a0008c0016 a0008c0018 a0009c0012 a0010c0013 a0011c0031 a0012c0030 a0013c0029 a0014c0027 a0016c0025 a0017c0028 a0018c0019	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(136): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0052 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0008t0008 a0001c0008t0014 a0001c0008t0031 a0001c0008t0054 a0001c0008t0058 a0001c0008t0079 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0012 a0002c0003t0016 a0002c0003t0017 a0002c0003t0023 a0002c0003t0027 a0002c0003t0039 a0002c0003t0045 a0002c0003t0048 a0002c0003t0094 a0002c0003t0096 a0002c0003t0099 a0002c0003t0103 a0002c0003t0105 a0002c0003t0106 a0002c0003t0107 a0002c0003t0111 a0002c0003t0113 a0002c0003t0115 a0002c0003t0119 a0002c0004t0008 a0002c0004t0011 a0002c0004t0013 a0002c0004t0041 a0002c0004t0042 a0002c0004t0084 a0002c0004t0085 a0002c0004t0088 a0002c0004t0091 a0002c0024t0117 a0002c0026t0095 a0003c0002t0002 a0003c0002t0003 a0003c0002t0004 a0003c0002t0005 a0003c0002t0006 a0003c0002t0008 a0003c0002t0009 a0003c0002t0017 a0003c0002t0021 a0003c0002t0022 a0003c0002t0027 a0003c0002t0028 a0003c0002t0029 a0003c0002t0046 a0003c0002t0050 a0003c0002t0068 a0003c0002t0081 a0003c0002t0092 a0003c0002t0093 a0003c0002t0098 a0003c0002t0101 a0003c0002t0102 a0003c0002t0104 a0003c0002t0110 a0003c0002t0112 a0003c0002t0114 a0003c0002t0116 a0003c0002t0120 a0003c0010t0023 a0003c0010t0123 a0003c0011t0012 a0003c0011t0100 a0003c0014t0047 a0003c0014t0086 a0003c0014t0087 a0003c0017t0015 a0003c0021t0015 a0003c0022t0013 a0006c0005t0002 a0006c0005t0003 a0006c0005t0027 a0006c0005t0045 a0006c0005t0097 a0006c0005t0118 a0007c0009t0024 a0007c0009t0030 a0007c0009t0053 a0007c0020t0066 a0008c0015t0012 a0008c0016t0108 a0008c0016t0109 a0008c0018t0002 a0009c0012t0025 a0009c0012t0078 a0010c0013t0006 a0010c0013t0017 a0010c0013t0121 a0011c0031t0049 a0012c0030t0051 a0013c0029t0070 a0014c0027t0006 a0016c0025t0080 a0017c0028t0047 a0018c0019t0122	a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0059 others(273): Show a0001c0001t0001g0050 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0082 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0004g0008 a0001c0001t0004g0009 a0001c0001t0004g0047 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0128 a0001c0001t0004g0140 a0001c0001t0005g0002 a0001c0001t0005g0054 a0001c0001t0005g0075 a0001c0001t0005g0086 a0001c0001t0005g0089 a0001c0001t0005g0110 a0001c0001t0005g0123 a0001c0001t0005g0125 a0001c0001t0005g0127 a0001c0001t0009g0007 a0001c0001t0009g0060 a0001c0001t0009g0077 a0001c0001t0009g0097 a0001c0001t0009g0114 a0001c0001t0009g0122 a0001c0001t0010g0011 a0001c0001t0010g0012 a0001c0001t0010g0116 a0001c0001t0010g0117 a0001c0001t0010g0118 a0001c0001t0014g0065 a0001c0001t0015g0057 a0001c0001t0015g0142 a0001c0001t0018g0003 a0001c0001t0018g0100 a0001c0001t0019g0051 a0001c0001t0019g0066 a0001c0001t0019g0079 a0001c0001t0019g0132 a0001c0001t0020g0010 a0001c0001t0020g0084 a0001c0001t0020g0112 a0001c0001t0020g0145 a0001c0001t0031g0046 a0001c0001t0032g0070 a0001c0001t0032g0126 a0001c0001t0033g0111 a0001c0001t0033g0113 a0001c0001t0034g0074 a0001c0001t0034g0088 a0001c0001t0035g0008 a0001c0001t0035g0138 a0001c0001t0036g0007 a0001c0001t0036g0076 a0001c0001t0037g0056 a0001c0001t0037g0121 a0001c0001t0038g0052 a0001c0001t0038g0053 a0001c0001t0052g0081 a0001c0001t0057g0107 a0001c0001t0059g0136 a0001c0001t0060g0087 a0001c0001t0061g0135 a0001c0001t0062g0010 a0001c0001t0063g0104 a0001c0001t0064g0133 a0001c0001t0065g0048 a0001c0001t0067g0120 a0001c0001t0069g0109 a0001c0001t0071g0106 a0001c0001t0072g0096 a0001c0001t0073g0067 a0001c0001t0074g0049 a0001c0001t0075g0090 a0001c0001t0076g0085 a0001c0001t0077g0102 a0001c0008t0008g0274 a0001c0008t0014g0069 a0001c0008t0014g0071 a0001c0008t0014g0072 a0001c0008t0014g0144 a0001c0008t0031g0152 a0001c0008t0054g0141 a0001c0008t0058g0068 a0001c0008t0079g0073 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0002g0197 a0002c0003t0002g0210 a0002c0003t0002g0231 a0002c0003t0002g0234 a0002c0003t0002g0254 a0002c0003t0003g0196 a0002c0003t0003g0222 a0002c0003t0003g0223 a0002c0003t0003g0248 a0002c0003t0006g0193 a0002c0003t0006g0194 a0002c0003t0006g0198 a0002c0003t0006g0199 a0002c0003t0006g0200 a0002c0003t0006g0201 a0002c0003t0006g0229 a0002c0003t0006g0230 a0002c0003t0006g0233 a0002c0003t0006g0256 a0002c0003t0012g0147 a0002c0003t0012g0177 a0002c0003t0016g0004 a0002c0003t0016g0239 a0002c0003t0016g0240 a0002c0003t0016g0252 a0002c0003t0017g0019 a0002c0003t0017g0195 a0002c0003t0017g0237 a0002c0003t0023g0251 a0002c0003t0027g0235 a0002c0003t0039g0022 a0002c0003t0045g0169 a0002c0003t0048g0004 a0002c0003t0048g0236 a0002c0003t0094g0170 a0002c0003t0096g0249 a0002c0003t0099g0035 a0002c0003t0103g0019 a0002c0003t0105g0184 a0002c0003t0106g0255 a0002c0003t0107g0171 a0002c0003t0111g0178 a0002c0003t0113g0203 a0002c0003t0115g0173 a0002c0003t0119g0186 a0002c0004t0008g0180 a0002c0004t0008g0181 a0002c0004t0008g0182 a0002c0004t0008g0213 a0002c0004t0008g0265 a0002c0004t0008g0271 a0002c0004t0008g0272 a0002c0004t0011g0042 a0002c0004t0011g0185 a0002c0004t0011g0187 a0002c0004t0011g0188 a0002c0004t0011g0190 a0002c0004t0011g0225 a0002c0004t0011g0262 a0002c0004t0013g0018 a0002c0004t0013g0179 a0002c0004t0013g0211 a0002c0004t0013g0212 a0002c0004t0013g0258 a0002c0004t0041g0020 a0002c0004t0042g0228 a0002c0004t0042g0247 a0002c0004t0084g0226 a0002c0004t0085g0018 a0002c0004t0088g0227 a0002c0004t0091g0257 a0002c0024t0117g0250 a0002c0026t0095g0192 a0003c0002t0002g0209 a0003c0002t0002g0264 a0003c0002t0002g0275 a0003c0002t0002g0282 a0003c0002t0002g0284 a0003c0002t0002g0287 a0003c0002t0002g0290 a0003c0002t0003g0172 a0003c0002t0003g0205 a0003c0002t0003g0267 a0003c0002t0003g0268 a0003c0002t0003g0278 a0003c0002t0003g0286 a0003c0002t0004g0021 a0003c0002t0004g0214 a0003c0002t0005g0021 a0003c0002t0005g0189 a0003c0002t0006g0224 a0003c0002t0008g0175 a0003c0002t0009g0202 a0003c0002t0017g0174 a0003c0002t0021g0063 a0003c0002t0021g0157 a0003c0002t0021g0163 a0003c0002t0021g0165 a0003c0002t0022g0015 a0003c0002t0022g0158 a0003c0002t0022g0159 a0003c0002t0027g0280 a0003c0002t0028g0041 a0003c0002t0028g0164 a0003c0002t0028g0270 a0003c0002t0029g0150 a0003c0002t0029g0151 a0003c0002t0046g0016 a0003c0002t0050g0149 a0003c0002t0068g0146 a0003c0002t0081g0160 a0003c0002t0092g0279 a0003c0002t0093g0238 a0003c0002t0098g0191 a0003c0002t0101g0040 a0003c0002t0102g0161 a0003c0002t0104g0242 a0003c0002t0110g0283 a0003c0002t0112g0204 a0003c0002t0114g0217 a0003c0002t0116g0162 a0003c0002t0120g0266 a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 a0003c0010t0123g0038 a0003c0011t0012g0001 a0003c0011t0012g0061 a0003c0011t0100g0001 a0003c0014t0047g0216 a0003c0014t0086g0276 a0003c0014t0087g0288 a0003c0017t0015g0014 a0003c0021t0015g0030 a0003c0022t0013g0261 a0006c0005t0002g0245 a0006c0005t0002g0260 a0006c0005t0003g0023 a0006c0005t0003g0218 a0006c0005t0003g0219 a0006c0005t0003g0244 a0006c0005t0003g0259 a0006c0005t0027g0220 a0006c0005t0045g0243 a0006c0005t0097g0246 a0006c0005t0118g0221 a0007c0009t0024g0005 a0007c0009t0024g0032 a0007c0009t0030g0033 a0007c0009t0030g0034 a0007c0009t0053g0031 a0007c0020t0066g0026 a0008c0015t0012g0017 a0008c0016t0108g0206 a0008c0016t0109g0207 a0008c0018t0002g0176 a0009c0012t0025g0027 a0009c0012t0025g0028 a0009c0012t0025g0029 a0009c0012t0078g0024 a0010c0013t0006g0168 a0010c0013t0017g0167 a0010c0013t0121g0183 a0011c0031t0049g0025 a0012c0030t0051g0078 a0013c0029t0070g0119 a0014c0027t0006g0232 a0016c0025t0080g0156 a0017c0028t0047g0291 a0018c0019t0122g0215	293	318	0.9214	c.189 others(4): Show c.1895T>C	p.Val others(6): Show p.Val632Ala	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	13/13	1978/7180	1895/2022	632/673	chr2	TogoVar
ABCG8_chr2_43833971_43887988	43877854	A A	G G	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02647.hp1 HG02559.hp2 HG02647.hp1	a0011 a0016 a0011 a0016	a0011c0031 a0016c0025 a0011c0031 a0016c0025	a0011c0031t0049 a0016c0025t0080 a0011c0031t0049 a0016c0025t0080	a0011c0031t0049g0025 a0016c0025t0080g0156 a0011c0031t0049g0025 a0016c0025t0080g0156	2	318	0.0063	c.196 others(4): Show c.1963A>G	p.Met others(6): Show p.Met655Val	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding	13/13	2046/7180	1963/2022	655/673	chr2	TogoVar
ABHD10_chr3_111974026_111998368	111979140	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0003 a0005c0009t0003	a0005c0009t0003g0009 a0005c0009t0003g0009	1	424	0.0024	c.79C others(2): Show c.79C>T	p.Pro others(5): Show p.Pro27Ser	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	1/5	115/2604	79/921	27/306	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111991437	G G	A A	missense_variant missense_variant	MODERATE	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0004 a0004c0007t0004	a0004c0007t0004g0041 a0004c0007t0004g0041	1	424	0.0024	c.637 others(3): Show c.637G>A	p.Gly others(6): Show p.Gly213Arg	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	5/5	673/2604	637/921	213/306	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111991551	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG01168.hp1 others(6): Show HG00140.hp2 HG00323.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01515.hp2 HG02004.hp1 HG03239.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	9	424	0.0212	c.751 others(3): Show c.751A>G	p.Ile others(6): Show p.Ile251Val	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	5/5	787/2604	751/921	251/306	chr3	TogoVar
ABHD10_chr3_111974026_111998368	111991599	A A	C C	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01167.hp1 HG01975.hp1 HG00642.hp1 HG01167.hp1 HG01975.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0011 a0003c0003t0001g0079 a0003c0003t0001g0081 a0003c0003t0001g0011 a0003c0003t0001g0079 a0003c0003t0001g0081	3	424	0.0071	c.799 others(3): Show c.799A>C	p.Thr others(6): Show p.Thr267Pro	ABHD10	ENSG00000144827.9	transcript	ENST00000273359.8	protein_coding	5/5	835/2604	799/921	267/306	chr3	TogoVar
ABHD11_chr7_73731094_73743802	73737313	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG02451.hp2 HG02572.hp1 others(14): Show HG01081.hp2 HG02451.hp2 HG02572.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	17	428	0.0397	c.514 others(3): Show c.514G>A	p.Val others(6): Show p.Val172Met	ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	4/6	546/1418	514/921	172/306	chr7	TogoVar
ABHD11_chr7_73731094_73743802	73738698	C C	A A	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0022 a0003c0005t0002g0022	1	428	0.0023	c.73G others(2): Show c.73G>T	p.Val others(5): Show p.Val25Leu	ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	1/6	105/1418	73/921	25/306	chr7	TogoVar
ABHD11_chr7_73731094_73743802	73738722	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0023 a0004c0006t0001g0023	1	428	0.0023	c.49C others(2): Show c.49C>T	p.Pro others(5): Show p.Pro17Ser	ABHD11	ENSG00000106077.19	transcript	ENST00000222800.8	protein_coding	1/6	81/1418	49/921	17/306	chr7	TogoVar
ABHD12B_chr14_50867053_50909970	50878819	G G	A A	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0003 a0007c0014t0003	a0007c0014t0003g0213 a0007c0014t0003g0213	1	376	0.0027	c.307 others(3): Show c.307G>A	p.Val others(6): Show p.Val103Ile	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	3/13	429/1815	307/1089	103/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50885627	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00408.hp2 HG01167.hp2 others(13): Show HG00280.hp2 HG00408.hp2 HG01167.hp2 HG01169.hp2 HG01346.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02148.hp1 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 NA19065.hp2 NA19082.hp1 NA20129.hp2	a0005 a0006 a0008 a0005 a0006 a0008	a0005c0008 a0006c0010 a0008c0015 a0005c0008 a0006c0010 a0008c0015	a0005c0008t0002 a0006c0010t0001 a0008c0015t0001 a0005c0008t0002 a0006c0010t0001 a0008c0015t0001	a0005c0008t0002g0010 a0005c0008t0002g0149 a0005c0008t0002g0150 others(11): Show a0005c0008t0002g0010 a0005c0008t0002g0149 a0005c0008t0002g0150 a0005c0008t0002g0151 a0005c0008t0002g0152 a0005c0008t0002g0178 a0005c0008t0002g0221 a0005c0008t0002g0242 a0005c0008t0002g0283 a0005c0008t0002g0285 a0005c0008t0002g0305 a0005c0008t0002g0321 a0006c0010t0001g0012 a0008c0015t0001g0315	16	376	0.0426	c.500 others(3): Show c.500G>A	p.Gly others(6): Show p.Gly167Asp	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	6/13	622/1815	500/1089	167/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50885837	A A	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0006 a0009c0017t0006	a0009c0017t0006g0224 a0009c0017t0006g0224	1	376	0.0027	c.604 others(3): Show c.604A>G	p.Thr others(6): Show p.Thr202Ala	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	7/13	726/1815	604/1089	202/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50901836	G G	A A	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0002 a0010c0016t0002	a0010c0016t0002g0266 a0010c0016t0002g0266	1	376	0.0027	c.788 others(3): Show c.788G>A	p.Arg others(6): Show p.Arg263Gln	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	10/13	910/1815	788/1089	263/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50901892	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp2 HG03098.hp2 HG03486.hp1 HG03516.hp1 HG03710.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18971.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0010	a0002c0002 a0002c0004 a0005c0008 others(2): Show a0002c0002 a0002c0004 a0005c0008 a0009c0017 a0010c0016	a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 others(9): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0002t0011 a0002c0002t0012 a0002c0004t0002 a0002c0004t0005 a0002c0004t0006 a0002c0004t0010 a0005c0008t0002 a0009c0017t0006 a0010c0016t0002	a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 others(120): Show a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 a0002c0002t0002g0020 a0002c0002t0002g0029 a0002c0002t0002g0033 a0002c0002t0002g0040 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0049 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0065 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0078 a0002c0002t0002g0082 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0087 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0103 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0122 a0002c0002t0002g0127 a0002c0002t0002g0130 a0002c0002t0002g0135 a0002c0002t0002g0139 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0195 a0002c0002t0002g0199 a0002c0002t0002g0201 a0002c0002t0002g0202 a0002c0002t0002g0203 a0002c0002t0002g0208 a0002c0002t0002g0226 a0002c0002t0002g0229 a0002c0002t0002g0232 a0002c0002t0002g0248 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0267 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0276 a0002c0002t0002g0280 a0002c0002t0002g0297 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0310 a0002c0002t0002g0313 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0327 a0002c0002t0002g0330 a0002c0002t0002g0335 a0002c0002t0002g0345 a0002c0002t0002g0346 a0002c0002t0002g0348 a0002c0002t0002g0350 a0002c0002t0002g0355 a0002c0002t0005g0022 a0002c0002t0005g0024 a0002c0002t0005g0153 a0002c0002t0005g0170 a0002c0002t0005g0171 a0002c0002t0005g0179 a0002c0002t0005g0217 a0002c0002t0005g0244 a0002c0002t0005g0245 a0002c0002t0006g0317 a0002c0002t0011g0175 a0002c0002t0012g0214 a0002c0004t0002g0008 a0002c0004t0002g0015 a0002c0004t0002g0060 a0002c0004t0002g0089 a0002c0004t0002g0090 a0002c0004t0002g0091 a0002c0004t0002g0123 a0002c0004t0002g0128 a0002c0004t0002g0147 a0002c0004t0002g0204 a0002c0004t0002g0225 a0002c0004t0002g0240 a0002c0004t0002g0269 a0002c0004t0002g0270 a0002c0004t0002g0279 a0002c0004t0002g0282 a0002c0004t0002g0294 a0002c0004t0002g0336 a0002c0004t0002g0351 a0002c0004t0002g0354 a0002c0004t0005g0072 a0002c0004t0006g0023 a0002c0004t0006g0169 a0002c0004t0006g0228 a0002c0004t0010g0205 a0005c0008t0002g0010 a0005c0008t0002g0149 a0005c0008t0002g0150 a0005c0008t0002g0151 a0005c0008t0002g0152 a0005c0008t0002g0178 a0005c0008t0002g0221 a0005c0008t0002g0242 a0005c0008t0002g0283 a0005c0008t0002g0285 a0005c0008t0002g0305 a0005c0008t0002g0321 a0009c0017t0006g0224 a0010c0016t0002g0266	131	376	0.3484	c.844 others(3): Show c.844A>G	p.Ile others(6): Show p.Ile282Val	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	10/13	966/1815	844/1089	282/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50904131	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG01106.hp2 HG01981.hp2 others(16): Show HG00280.hp2 HG01106.hp2 HG01981.hp2 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG02717.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20300.hp1	a0004 a0008 a0004 a0008	a0004c0007 a0004c0009 a0008c0015 a0004c0007 a0004c0009 a0008c0015	a0004c0007t0001 a0004c0007t0003 a0004c0009t0001 others(4): Show a0004c0007t0001 a0004c0007t0003 a0004c0009t0001 a0004c0009t0003 a0004c0009t0009 a0004c0009t0015 a0008c0015t0001	a0004c0007t0001g0002 a0004c0007t0001g0037 a0004c0007t0001g0116 others(14): Show a0004c0007t0001g0002 a0004c0007t0001g0037 a0004c0007t0001g0116 a0004c0007t0001g0117 a0004c0007t0001g0125 a0004c0007t0001g0157 a0004c0007t0001g0167 a0004c0007t0001g0187 a0004c0007t0001g0243 a0004c0007t0001g0293 a0004c0007t0001g0353 a0004c0007t0003g0019 a0004c0009t0001g0289 a0004c0009t0003g0168 a0004c0009t0009g0165 a0004c0009t0015g0177 a0008c0015t0001g0315	19	376	0.0505	c.100 others(4): Show c.1000T>C	p.Phe others(6): Show p.Phe334Leu	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	12/13	1122/1815	1000/1089	334/362	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50904134	C C	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00544.hp1 HG00621.hp2 others(33): Show HG00438.hp1 HG00544.hp1 HG00621.hp2 HG00673.hp2 HG01167.hp1 HG01168.hp2 HG01243.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG02080.hp2 HG02109.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp1 HG02886.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03710.hp2 HG03834.hp1 HG04184.hp1 HG04204.hp2 NA18946.hp2 NA19012.hp1 NA19030.hp2 NA19056.hp1 NA19077.hp2 NA19086.hp1 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0012 a0003c0003 a0003c0012	a0003c0003t0001 a0003c0003t0003 a0003c0012t0001 a0003c0003t0001 a0003c0003t0003 a0003c0012t0001	a0003c0003t0001g0014 a0003c0003t0001g0027 a0003c0003t0001g0053 others(32): Show a0003c0003t0001g0014 a0003c0003t0001g0027 a0003c0003t0001g0053 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0093 a0003c0003t0001g0101 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0118 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0143 a0003c0003t0001g0146 a0003c0003t0001g0148 a0003c0003t0001g0188 a0003c0003t0001g0200 a0003c0003t0001g0227 a0003c0003t0001g0254 a0003c0003t0001g0281 a0003c0003t0001g0290 a0003c0003t0001g0298 a0003c0003t0001g0325 a0003c0003t0001g0334 a0003c0003t0003g0076 a0003c0003t0003g0196 a0003c0003t0003g0197 a0003c0003t0003g0287 a0003c0003t0003g0291 a0003c0012t0001g0042 a0003c0012t0001g0131	36	376	0.0957	c.100 others(4): Show c.1003C>G	p.Pro others(6): Show p.Pro335Ala	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	12/13	1125/1815	1003/1089	335/362	chr14	TogoVar
ABHD12_chr20_25295214_25395835	25302331	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG02280.hp1 HG00639.hp1 HG02280.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0174 a0002c0006t0002g0193 a0002c0006t0002g0174 a0002c0006t0002g0193	2	316	0.0063	c.104 others(4): Show c.1045G>A	p.Ala others(6): Show p.Ala349Thr	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	12/13	1177/1960	1045/1197	349/398	chr20	TogoVar
ABHD12_chr20_25295214_25395835	25323337	G G	C C	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0020 a0004c0009t0001g0020	1	316	0.0032	c.410 others(3): Show c.410C>G	p.Thr others(6): Show p.Thr137Ser	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/13	542/1960	410/1197	137/398	chr20	TogoVar
ABHD12_chr20_25295214_25395835	25323342	G G	T T	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0248 a0005c0008t0002g0248	1	316	0.0032	c.405 others(3): Show c.405C>A	p.Asp others(6): Show p.Asp135Glu	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/13	537/1960	405/1197	135/398	chr20	TogoVar
ABHD12_chr20_25295214_25395835	25339341	C C	T T	missense_variant missense_variant	MODERATE	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0191 a0003c0007t0002g0191	1	316	0.0032	c.202 others(3): Show c.202G>A	p.Val others(5): Show p.Val68Met	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	2/13	334/1960	202/1197	68/398	chr20	TogoVar
ABHD13_chr13_108213392_108239243	108230051	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0007 a0002c0004t0005g0007	1	390	0.0026	c.833 others(3): Show c.833A>G	p.Gln others(6): Show p.Gln278Arg	ABHD13	ENSG00000139826.6	transcript	ENST00000375898.4	protein_coding	2/2	1121/5313	833/1014	278/337	chr13	TogoVar
ABHD14A_chr3_51970064_51986196	51977890	T T	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0001 a0008c0007t0001	a0008c0007t0001g0036 a0008c0007t0001g0036	1	344	0.0029	c.89T others(2): Show c.89T>G	p.Met others(5): Show p.Met30Arg	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2/5	161/1066	89/816	30/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51977896	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01255.hp2 others(3): Show HG01070.hp1 HG01071.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp1 HG02257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	6	344	0.0174	c.95G others(2): Show c.95G>A	p.Arg others(5): Show p.Arg32Gln	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2/5	167/1066	95/816	32/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51977984	C C	G G	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00438.hp2 HG01884.hp2 others(29): Show HG00408.hp2 HG00438.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG02135.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp1 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 NA18522.hp2 NA18906.hp1 NA19054.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA21309.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0007 a0002c0002 a0008c0007	a0002c0002t0001 a0002c0002t0002 a0008c0007t0001 a0002c0002t0001 a0002c0002t0002 a0008c0007t0001	a0002c0002t0001g0010 a0002c0002t0002g0006 a0002c0002t0002g0007 others(8): Show a0002c0002t0001g0010 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0009 a0002c0002t0002g0014 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0008c0007t0001g0036	32	344	0.0930	c.183 others(3): Show c.183C>G	p.Cys others(5): Show p.Cys61Trp	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	2/5	255/1066	183/816	61/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51980458	C C	T T	missense_variant missense_variant	MODERATE	NA18983.hp2 NA19066.hp2 NA19088.hp2 NA18983.hp2 NA19066.hp2 NA19088.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0001 a0004c0006t0001g0001	3	344	0.0087	c.463 others(3): Show c.463C>T	p.Arg others(6): Show p.Arg155Trp	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4/5	535/1066	463/816	155/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51980489	C C	T T	missense_variant missense_variant	MODERATE	HG03710.hp2 HG03710.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0008 a0007c0010t0001g0008	1	344	0.0029	c.494 others(3): Show c.494C>T	p.Ala others(6): Show p.Ala165Val	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4/5	566/1066	494/816	165/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51980550	C C	G G	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0001 a0006c0009t0001g0001	1	344	0.0029	c.555 others(3): Show c.555C>G	p.His others(6): Show p.His185Gln	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	4/5	627/1066	555/816	185/271	chr3	TogoVar
ABHD14A_chr3_51970064_51986196	51980894	G G	A A	missense_variant missense_variant	MODERATE	HG04115.hp1 HG04115.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0001 a0005c0008t0001g0001	1	344	0.0029	c.692 others(3): Show c.692G>A	p.Arg others(6): Show p.Arg231Gln	ABHD14A	ENSG00000248487.10	transcript	ENST00000273596.8	protein_coding	5/5	764/1066	692/816	231/271	chr3	TogoVar
ABHD15_chr17_29555547_29572037	29562782	G G	A A	missense_variant missense_variant	MODERATE	NA19067.hp1 NA19067.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0075 a0005c0010t0001g0075	1	418	0.0024	c.118 others(4): Show c.1186C>T	p.Arg others(6): Show p.Arg396Cys	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	2/2	1257/3492	1186/1407	396/468	chr17	TogoVar
ABHD15_chr17_29555547_29572037	29562968	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(348): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(2): Show a0001 a0003 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0009 a0003c0006 a0003c0012 a0005c0010 a0006c0008 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0005t0001 a0001c0009t0001 a0003c0006t0001 a0003c0006t0002 a0003c0006t0012 a0003c0012t0001 a0005c0010t0001 a0006c0008t0001 a0007c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(83): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0039 a0001c0001t0002g0055 a0001c0001t0002g0062 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0110 a0001c0001t0003g0058 a0001c0001t0004g0040 a0001c0001t0005g0083 a0001c0001t0006g0084 a0001c0001t0007g0056 a0001c0001t0008g0074 a0001c0001t0010g0100 a0001c0001t0011g0101 a0001c0001t0013g0102 a0001c0001t0014g0065 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0045 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0087 a0001c0002t0001g0092 a0001c0002t0001g0094 a0001c0002t0001g0098 a0001c0002t0001g0112 a0001c0002t0002g0008 a0001c0002t0002g0017 a0001c0002t0002g0027 a0001c0002t0003g0028 a0001c0002t0003g0052 a0001c0002t0009g0095 a0001c0005t0001g0018 a0001c0005t0001g0082 a0001c0009t0001g0054 a0003c0006t0001g0048 a0003c0006t0002g0047 a0003c0006t0012g0116 a0003c0012t0001g0115 a0005c0010t0001g0075 a0006c0008t0001g0049 a0007c0011t0001g0114	351	418	0.8397	c.100 others(4): Show c.1000A>G	p.Thr others(6): Show p.Thr334Ala	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	2/2	1071/3492	1000/1407	334/468	chr17	TogoVar
ABHD15_chr17_29555547_29572037	29566282	C C	T T	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0049 a0006c0008t0001g0049	1	418	0.0024	c.685 others(3): Show c.685G>A	p.Ala others(6): Show p.Ala229Thr	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	1/2	756/3492	685/1407	229/468	chr17	TogoVar
ABHD15_chr17_29555547_29572037	29566677	G G	C C	missense_variant missense_variant	MODERATE	NA18948.hp1 NA18948.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0114 a0007c0011t0001g0114	1	418	0.0024	c.290 others(3): Show c.290C>G	p.Pro others(5): Show p.Pro97Arg	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	1/2	361/3492	290/1407	97/468	chr17	TogoVar
ABHD15_chr17_29555547_29572037	29566734	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0046 a0004c0007t0001g0046	2	418	0.0048	c.233 others(3): Show c.233C>T	p.Ala others(5): Show p.Ala78Val	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	1/2	304/3492	233/1407	78/468	chr17	TogoVar
ABHD15_chr17_29555547_29572037	29566875	C C	A A	missense_variant missense_variant	MODERATE	HG00642.hp1 HG01099.hp1 HG01106.hp1 others(3): Show HG00642.hp1 HG01099.hp1 HG01106.hp1 HG01123.hp2 HG02148.hp1 HG02257.hp1	a0003 a0003	a0003c0006 a0003c0012 a0003c0006 a0003c0012	a0003c0006t0001 a0003c0006t0002 a0003c0006t0012 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0006t0012 a0003c0012t0001	a0003c0006t0001g0048 a0003c0006t0002g0047 a0003c0006t0012g0116 others(1): Show a0003c0006t0001g0048 a0003c0006t0002g0047 a0003c0006t0012g0116 a0003c0012t0001g0115	6	418	0.0144	c.92G others(2): Show c.92G>T	p.Arg others(5): Show p.Arg31Leu	ABHD15	ENSG00000168792.5	transcript	ENST00000307201.5	protein_coding	1/2	163/3492	92/1407	31/468	chr17	TogoVar
ABHD16A_chr6_31681955_31708324	31691677	T T	C C	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0063 a0003c0010t0001g0063	1	417	0.0024	c.745 others(3): Show c.745A>G	p.Asn others(6): Show p.Asn249Asp	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	9/20	788/1977	745/1677	249/558	chr6	TogoVar
ABHD16A_chr6_31681955_31708324	31693037	G G	C C	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0001 a0002c0011t0001	a0002c0011t0001g0136 a0002c0011t0001g0136	1	417	0.0024	c.616 others(3): Show c.616C>G	p.Gln others(6): Show p.Gln206Glu	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	7/20	659/1977	616/1677	206/558	chr6	TogoVar
ABHD16A_chr6_31681955_31708324	31693387	C C	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0129 a0005c0007t0001g0129	1	417	0.0024	c.475 others(3): Show c.475G>A	p.Asp others(6): Show p.Asp159Asn	ABHD16A	ENSG00000204427.12	transcript	ENST00000395952.8	protein_coding	6/20	518/1977	475/1677	159/558	chr6	TogoVar
ABHD16B_chr20_63856498_63867988	63861569	T T	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00597.hp2 HG00621.hp1 others(31): Show HG00280.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02155.hp1 HG02165.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03540.hp1 HG03669.hp1 HG03834.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18960.hp2 NA18974.hp2 NA18982.hp2 NA18998.hp2 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19068.hp1 NA19080.hp2 NA19081.hp1 NA20752.hp2 NA20805.hp1	a0002 a0006 a0010 others(4): Show a0002 a0006 a0010 a0011 a0012 a0013 a0014	a0002c0002 a0006c0007 a0010c0010 others(4): Show a0002c0002 a0006c0007 a0010c0010 a0011c0011 a0012c0013 a0013c0012 a0014c0009	a0002c0002t0001 a0006c0007t0001 a0010c0010t0001 others(4): Show a0002c0002t0001 a0006c0007t0001 a0010c0010t0001 a0011c0011t0001 a0012c0013t0001 a0013c0012t0001 a0014c0009t0001	a0002c0002t0001g0000 a0006c0007t0001g0000 a0010c0010t0001g0000 others(4): Show a0002c0002t0001g0000 a0006c0007t0001g0000 a0010c0010t0001g0000 a0011c0011t0001g0000 a0012c0013t0001g0000 a0013c0012t0001g0000 a0014c0009t0001g0000	34	398	0.0854	c.29T others(2): Show c.29T>A	p.Leu others(5): Show p.Leu10Gln	ABHD16B	ENSG00000183260.7	transcript	ENST00000369916.5	protein_coding	1/1	72/1491	29/1410	10/469	chr20	TogoVar

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