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
ACTRT2_chr1_3016467_3027903	3021942	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0000 a0008c0008t0001g0000	1	366	0.0027	c.256 others(3): Show c.256G>A	p.Val others(5): Show p.Val86Met	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	476/1437	256/1134	86/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022323	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01884.hp2 HG02257.hp2 others(8): Show HG01243.hp1 HG01884.hp2 HG02257.hp2 HG02258.hp2 HG02622.hp2 HG02976.hp1 HG03130.hp2 HG03139.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0000 a0004c0005t0001g0000	11	366	0.0301	c.637 others(3): Show c.637G>A	p.Val others(6): Show p.Val213Met	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	857/1437	637/1134	213/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022360	T T	G G	missense_variant missense_variant	MODERATE	HG01106.hp1 HG01255.hp1 HG02004.hp1 others(4): Show HG01106.hp1 HG01255.hp1 HG02004.hp1 HG02451.hp2 HG02572.hp1 HG02965.hp1 HG03453.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0000 a0005c0006t0001g0000	7	366	0.0191	c.674 others(3): Show c.674T>G	p.Leu others(6): Show p.Leu225Trp	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	894/1437	674/1134	225/377	chr1	TogoVar
ACTRT2_chr1_3016467_3027903	3022425	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG01081.hp2 HG01168.hp2 others(39): Show HG00323.hp1 HG01081.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01433.hp1 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02155.hp2 HG02300.hp1 HG02698.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp1 NA18747.hp1 NA18941.hp1 NA18942.hp2 NA18948.hp2 NA18950.hp2 NA18960.hp2 NA18966.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18993.hp1 NA18997.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19088.hp1 NA20752.hp1 NA20752.hp2	a0003 a0003	a0003c0003 a0003c0013 a0003c0003 a0003c0013	a0003c0003t0001 a0003c0013t0001 a0003c0003t0001 a0003c0013t0001	a0003c0003t0001g0000 a0003c0013t0001g0000 a0003c0003t0001g0000 a0003c0013t0001g0000	42	366	0.1148	c.739 others(3): Show c.739G>A	p.Gly others(6): Show p.Gly247Arg	ACTRT2	ENSG00000169717.7	transcript	ENST00000378404.4	protein_coding	1/1	959/1437	739/1134	247/377	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169767800	G G	C C	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0018 a0008c0008t0001g0018	1	418	0.0024	c.751 others(3): Show c.751C>G	p.Leu others(6): Show p.Leu251Val	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	792/1671	751/1119	251/372	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169767851	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00673.hp2 HG01981.hp2 others(30): Show HG00544.hp2 HG00673.hp2 HG01981.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG04184.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp2 NA18979.hp2 NA19001.hp2 NA19007.hp1 NA19011.hp1 NA19066.hp2 NA19090.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0002c0004 a0008c0008 a0002c0002 a0002c0004 a0008c0008	a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 others(1): Show a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0008c0008t0001	a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 others(5): Show a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0004g0031 a0002c0004t0001g0012 a0002c0004t0001g0032 a0008c0008t0001g0018	33	418	0.0790	c.700 others(3): Show c.700G>A	p.Glu others(6): Show p.Glu234Lys	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	741/1671	700/1119	234/372	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169767878	C C	T T	missense_variant missense_variant	MODERATE	NA19077.hp1 NA19077.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0039 a0009c0007t0001g0039	1	418	0.0024	c.673 others(3): Show c.673G>A	p.Glu others(6): Show p.Glu225Lys	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	714/1671	673/1119	225/372	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169767953	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0035 a0006c0010t0001g0035	1	418	0.0024	c.598 others(3): Show c.598C>T	p.Leu others(6): Show p.Leu200Phe	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	639/1671	598/1119	200/372	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169768201	T T	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01255.hp2 HG02055.hp2 others(13): Show HG01243.hp2 HG01255.hp2 HG02055.hp2 HG02258.hp2 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03834.hp1 NA19043.hp1 NA19043.hp2 NA21309.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021 others(1): Show a0003c0003t0001g0007 a0003c0003t0001g0009 a0003c0003t0001g0021 a0003c0003t0001g0046	16	418	0.0383	c.350 others(3): Show c.350A>T	p.Gln others(6): Show p.Gln117Leu	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	2/2	391/1671	350/1119	117/372	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169769363	A A	G G	missense_variant missense_variant	MODERATE	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0014 a0005c0005t0001g0014	2	418	0.0048	c.158 others(3): Show c.158T>C	p.Val others(5): Show p.Val53Ala	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/2	199/1671	158/1119	53/372	chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169769411	C C	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0017 a0004c0006t0001g0017	2	418	0.0048	c.110 others(3): Show c.110G>T	p.Arg others(5): Show p.Arg37Leu	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding	1/2	151/1671	110/1119	37/372	chr3	TogoVar
ACVR1B_chr12_51946699_52002078	51976356	A A	C C	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0196 a0002c0008t0001g0196	1	324	0.0031	c.361 others(3): Show c.361A>C	p.Met others(6): Show p.Met121Leu	ACVR1B	ENSG00000135503.13	transcript	ENST00000257963.9	protein_coding	3/9	406/4531	361/1518	121/505	chr12	TogoVar
ACVR1C_chr2_157521767_157633864	157533956	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01168.hp1 HG01169.hp2 others(59): Show HG00741.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0005 others(3): Show a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0011 a0002c0013	a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 others(20): Show a0002c0003t0002 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0009 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0017 a0002c0003t0020 a0002c0003t0021 a0002c0003t0026 a0002c0004t0002 a0002c0004t0006 a0002c0004t0008 a0002c0004t0010 a0002c0004t0013 a0002c0005t0008 a0002c0005t0009 a0002c0008t0002 a0002c0008t0027 a0002c0011t0002 a0002c0013t0010	a0002c0003t0002g0006 a0002c0003t0002g0010 a0002c0003t0002g0022 others(59): Show a0002c0003t0002g0006 a0002c0003t0002g0010 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0029 a0002c0003t0002g0034 a0002c0003t0002g0035 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0043 a0002c0003t0002g0045 a0002c0003t0002g0046 a0002c0003t0002g0057 a0002c0003t0002g0060 a0002c0003t0002g0120 a0002c0003t0002g0124 a0002c0003t0002g0131 a0002c0003t0005g0008 a0002c0003t0005g0076 a0002c0003t0005g0077 a0002c0003t0005g0078 a0002c0003t0005g0079 a0002c0003t0006g0081 a0002c0003t0006g0082 a0002c0003t0006g0092 a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0104 a0002c0003t0006g0109 a0002c0003t0008g0012 a0002c0003t0008g0028 a0002c0003t0008g0080 a0002c0003t0008g0097 a0002c0003t0009g0025 a0002c0003t0009g0026 a0002c0003t0009g0036 a0002c0003t0009g0066 a0002c0003t0009g0067 a0002c0003t0010g0031 a0002c0003t0010g0090 a0002c0003t0013g0050 a0002c0003t0014g0086 a0002c0003t0017g0214 a0002c0003t0017g0215 a0002c0003t0020g0083 a0002c0003t0021g0096 a0002c0003t0026g0107 a0002c0004t0002g0099 a0002c0004t0002g0100 a0002c0004t0002g0204 a0002c0004t0006g0160 a0002c0004t0008g0183 a0002c0004t0010g0190 a0002c0004t0013g0018 a0002c0005t0008g0004 a0002c0005t0008g0005 a0002c0005t0009g0009 a0002c0008t0002g0106 a0002c0008t0027g0105 a0002c0011t0002g0011 a0002c0013t0010g0052	62	216	0.2870	c.144 others(4): Show c.1444A>G	p.Ile others(6): Show p.Ile482Val	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	9/9	1664/8853	1444/1482	482/493	chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157556189	T T	G G	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0167 a0003c0006t0005g0186 a0003c0006t0005g0167 a0003c0006t0005g0186	2	216	0.0093	c.448 others(3): Show c.448A>C	p.Asn others(6): Show p.Asn150His	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/9	668/8853	448/1482	150/493	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147899822	C C	T T	missense_variant missense_variant	MODERATE	HG02129.hp2 HG02129.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0088 a0003c0007t0001g0088	1	338	0.0030	c.452 others(3): Show c.452C>T	p.Ala others(6): Show p.Ala151Val	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	4/11	576/5214	452/1542	151/513	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147927251	C C	T T	missense_variant missense_variant	MODERATE	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0086 a0002c0006t0011g0086	1	338	0.0030	c.151 others(4): Show c.1519C>T	p.Pro others(6): Show p.Pro507Ser	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	11/11	1643/5214	1519/1542	507/513	chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147927254	C C	T T	missense_variant missense_variant	MODERATE	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0086 a0002c0006t0011g0086	1	338	0.0030	c.152 others(4): Show c.1522C>T	p.Pro others(6): Show p.Pro508Ser	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding	11/11	1646/5214	1522/1542	508/513	chr2	TogoVar
ACVR2B_chr3_38448890_38498142	38477353	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0040 a0002c0005t0040	a0002c0005t0040g0047 a0002c0005t0040g0049 a0002c0005t0040g0047 a0002c0005t0040g0049	2	410	0.0049	c.119 others(3): Show c.119G>A	p.Arg others(5): Show p.Arg40His	ACVR2B	ENSG00000114739.14	transcript	ENST00000352511.5	protein_coding	2/11	552/11782	119/1539	40/512	chr3	TogoVar
ACVRL1_chr12_51902504_51928361	51914473	G G	C C	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0151 a0002c0007t0003g0151	1	438	0.0023	c.660 others(3): Show c.660G>C	p.Leu others(6): Show p.Leu220Phe	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	6/10	857/4177	660/1512	220/503	chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51915242	A A	T T	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0010 a0003c0009t0003g0010	1	438	0.0023	c.790 others(3): Show c.790A>T	p.Met others(6): Show p.Met264Leu	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	7/10	987/4177	790/1512	264/503	chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51915474	A A	G G	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0006 a0004c0008t0006	a0004c0008t0006g0024 a0004c0008t0006g0024	1	438	0.0023	c.102 others(4): Show c.1022A>G	p.Asn others(6): Show p.Asn341Ser	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	7/10	1219/4177	1022/1512	341/503	chr12	TogoVar
ACVRL1_chr12_51902504_51928361	51916230	A A	T T	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0003 a0003c0009t0003	a0003c0009t0003g0010 a0003c0009t0003g0010	1	438	0.0023	c.124 others(4): Show c.1243A>T	p.Asn others(6): Show p.Asn415Tyr	ACVRL1	ENSG00000139567.13	transcript	ENST00000388922.9	protein_coding	8/10	1440/4177	1243/1512	415/503	chr12	TogoVar
ACY1_chr3_51978535_51994197	51985412	A A	G G	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19054.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0009 a0004c0008t0001g0009	1	338	0.0030	c.211 others(3): Show c.211A>G	p.Thr others(5): Show p.Thr71Ala	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	4/15	284/1422	211/1227	71/408	chr3	TogoVar
ACY1_chr3_51978535_51994197	51985443	C C	T T	missense_variant missense_variant	MODERATE	HG02040.hp1 HG02040.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0001 a0005c0007t0001g0001	1	338	0.0030	c.242 others(3): Show c.242C>T	p.Thr others(5): Show p.Thr81Met	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	4/15	315/1422	242/1227	81/408	chr3	TogoVar
ACY1_chr3_51978535_51994197	51986614	A A	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02486.hp1 HG01884.hp1 HG01891.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	3	338	0.0089	c.536 others(3): Show c.536A>G	p.Asn others(6): Show p.Asn179Ser	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	8/15	609/1422	536/1227	179/408	chr3	TogoVar
ACY1_chr3_51978535_51994197	51987598	G G	A A	missense_variant missense_variant	MODERATE	NA18954.hp1 NA19077.hp2 NA18954.hp1 NA19077.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0036 a0003c0003t0001g0002 a0003c0003t0001g0036	2	338	0.0059	c.895 others(3): Show c.895G>A	p.Glu others(6): Show p.Glu299Lys	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	12/15	968/1422	895/1227	299/408	chr3	TogoVar
ACY1_chr3_51978535_51994197	51988591	T T	A A	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0001 a0006c0004t0001	a0006c0004t0001g0002 a0006c0004t0001g0002	1	338	0.0030	c.989 others(3): Show c.989T>A	p.Val others(6): Show p.Val330Asp	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	13/15	1062/1422	989/1227	330/408	chr3	TogoVar
ACY1_chr3_51978535_51994197	51989004	C C	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0001 a0007c0006t0001g0001	1	338	0.0030	c.115 others(4): Show c.1156C>T	p.Arg others(6): Show p.Arg386Cys	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	15/15	1229/1422	1156/1227	386/408	chr3	TogoVar
ACY1_chr3_51978535_51994197	51989020	A A	G G	missense_variant missense_variant	MODERATE	HG01934.hp1 HG01934.hp1	a0008 a0008	a0008c0005 a0008c0005	a0008c0005t0001 a0008c0005t0001	a0008c0005t0001g0001 a0008c0005t0001g0001	1	338	0.0030	c.117 others(4): Show c.1172A>G	p.Tyr others(6): Show p.Tyr391Cys	ACY1	ENSG00000243989.9	transcript	ENST00000636358.2	protein_coding	15/15	1245/1422	1172/1227	391/408	chr3	TogoVar
ACY3_chr11_67637555_67655730	67642843	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02135.hp1 HG02135.hp2 others(6): Show HG02015.hp1 HG02135.hp1 HG02135.hp2 NA18940.hp2 NA18965.hp1 NA18967.hp2 NA18993.hp2 NA19003.hp1 NA19055.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0009 a0003c0004t0005g0066 a0003c0004t0005g0110 others(1): Show a0003c0004t0005g0009 a0003c0004t0005g0066 a0003c0004t0005g0110 a0003c0004t0005g0130	9	396	0.0227	c.841 others(3): Show c.841G>A	p.Val others(6): Show p.Val281Met	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding	8/8	1083/1371	841/960	281/319	chr11	TogoVar
ACY3_chr11_67637555_67655730	67647021	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 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 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18987.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19059.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(78): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0004g0010 a0001c0001t0004g0017 a0001c0001t0004g0051 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0006g0002 a0001c0001t0006g0008 a0001c0001t0006g0039 a0001c0001t0007g0048 a0001c0001t0008g0057 a0001c0001t0009g0058 a0001c0001t0011g0072 a0001c0006t0001g0092 a0001c0007t0001g0073 a0001c0008t0001g0076	267	396	0.6742	c.23G others(2): Show c.23G>A	p.Arg others(4): Show p.Arg8Gln	ACY3	ENSG00000132744.8	transcript	ENST00000255082.8	protein_coding	3/8	265/1371	23/960	8/319	chr11	TogoVar
ACYP2_chr2_53966113_54310300	54135454	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02109.hp2 HG02976.hp1 HG02109.hp2 HG02976.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0007	a0003c0004t0007g0003 a0003c0004t0007g0004 a0003c0004t0007g0003 a0003c0004t0007g0004	2	272	0.0074	c.279 others(3): Show c.279T>A	p.Ser others(5): Show p.Ser93Arg	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	5/7	524/1262	279/519	93/172	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54304693	C C	G G	missense_variant missense_variant	MODERATE	NA18940.hp1 NA18940.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0185 a0004c0006t0001g0185	1	272	0.0037	c.410 others(3): Show c.410C>G	p.Ser others(6): Show p.Ser137Cys	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	7/7	655/1262	410/519	137/172	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188355	G G	T T	missense_variant missense_variant	MODERATE	NA18959.hp1 NA18959.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0001 a0006c0015t0001	a0006c0015t0001g0167 a0006c0015t0001g0167	1	408	0.0025	c.106 others(4): Show c.1065C>A	p.Phe others(6): Show p.Phe355Leu	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1191/4355	1065/1536	355/511	chr22	TogoVar
ADA2_chr22_17173790_17224435	17188416	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(119): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp1 NA18950.hp1 NA18957.hp2 NA18959.hp2 NA18963.hp2 NA18967.hp2 NA18977.hp2 NA18978.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18993.hp1 NA18997.hp1 NA19004.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19060.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp2 NA19081.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0002c0006 a0002c0007 others(5): Show a0002c0002 a0002c0006 a0002c0007 a0002c0009 a0002c0011 a0002c0012 a0002c0017 a0003c0019	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(38): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0017 a0002c0002t0020 a0002c0002t0034 a0002c0002t0041 a0002c0002t0044 a0002c0002t0051 a0002c0006t0003 a0002c0006t0004 a0002c0006t0007 a0002c0006t0008 a0002c0006t0010 a0002c0006t0017 a0002c0006t0029 a0002c0006t0031 a0002c0006t0033 a0002c0006t0046 a0002c0006t0050 a0002c0007t0001 a0002c0007t0003 a0002c0007t0007 a0002c0007t0008 a0002c0007t0009 a0002c0007t0030 a0002c0009t0002 a0002c0009t0006 a0002c0009t0014 a0002c0011t0002 a0002c0011t0006 a0002c0011t0018 a0002c0011t0043 a0002c0012t0014 a0002c0017t0014 a0003c0019t0007	a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0021 others(117): Show a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0021 a0002c0002t0001g0031 a0002c0002t0001g0077 a0002c0002t0001g0159 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0252 a0002c0002t0001g0272 a0002c0002t0001g0280 a0002c0002t0001g0314 a0002c0002t0001g0319 a0002c0002t0003g0023 a0002c0002t0003g0029 a0002c0002t0003g0038 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0044 a0002c0002t0003g0078 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0173 a0002c0002t0003g0211 a0002c0002t0003g0266 a0002c0002t0003g0278 a0002c0002t0003g0301 a0002c0002t0007g0049 a0002c0002t0007g0289 a0002c0002t0007g0320 a0002c0002t0008g0356 a0002c0002t0008g0377 a0002c0002t0009g0027 a0002c0002t0009g0165 a0002c0002t0009g0177 a0002c0002t0009g0180 a0002c0002t0009g0274 a0002c0002t0009g0294 a0002c0002t0010g0032 a0002c0002t0010g0066 a0002c0002t0010g0202 a0002c0002t0010g0204 a0002c0002t0010g0206 a0002c0002t0010g0207 a0002c0002t0010g0217 a0002c0002t0012g0005 a0002c0002t0013g0185 a0002c0002t0017g0034 a0002c0002t0020g0392 a0002c0002t0020g0400 a0002c0002t0034g0251 a0002c0002t0041g0332 a0002c0002t0044g0330 a0002c0002t0051g0333 a0002c0006t0003g0037 a0002c0006t0003g0064 a0002c0006t0003g0087 a0002c0006t0003g0106 a0002c0006t0003g0107 a0002c0006t0003g0132 a0002c0006t0003g0246 a0002c0006t0003g0316 a0002c0006t0004g0363 a0002c0006t0004g0371 a0002c0006t0007g0020 a0002c0006t0007g0121 a0002c0006t0008g0331 a0002c0006t0008g0347 a0002c0006t0008g0361 a0002c0006t0008g0364 a0002c0006t0008g0369 a0002c0006t0010g0089 a0002c0006t0010g0305 a0002c0006t0017g0018 a0002c0006t0017g0218 a0002c0006t0029g0186 a0002c0006t0031g0085 a0002c0006t0033g0247 a0002c0006t0046g0370 a0002c0006t0050g0345 a0002c0007t0001g0122 a0002c0007t0001g0140 a0002c0007t0001g0148 a0002c0007t0001g0149 a0002c0007t0001g0256 a0002c0007t0003g0082 a0002c0007t0003g0099 a0002c0007t0003g0255 a0002c0007t0003g0257 a0002c0007t0007g0073 a0002c0007t0007g0129 a0002c0007t0007g0130 a0002c0007t0007g0142 a0002c0007t0007g0197 a0002c0007t0008g0394 a0002c0007t0008g0404 a0002c0007t0009g0141 a0002c0007t0009g0190 a0002c0007t0009g0237 a0002c0007t0030g0188 a0002c0009t0002g0045 a0002c0009t0002g0054 a0002c0009t0002g0090 a0002c0009t0002g0208 a0002c0009t0002g0282 a0002c0009t0002g0302 a0002c0009t0002g0306 a0002c0009t0006g0383 a0002c0009t0014g0022 a0002c0011t0002g0019 a0002c0011t0002g0131 a0002c0011t0006g0343 a0002c0011t0018g0025 a0002c0011t0043g0401 a0002c0012t0014g0015 a0002c0012t0014g0047 a0002c0017t0014g0086 a0003c0019t0007g0053	122	408	0.2990	c.100 others(4): Show c.1004A>G	p.His others(6): Show p.His335Arg	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/10	1130/4355	1004/1536	335/511	chr22	TogoVar
ADA2_chr22_17173790_17224435	17203627	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0004 a0004c0014t0004	a0004c0014t0004g0393 a0004c0014t0004g0393	1	408	0.0025	c.689 others(3): Show c.689G>A	p.Arg others(6): Show p.Arg230Gln	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	4/10	815/4355	689/1536	230/511	chr22	TogoVar
ADA2_chr22_17173790_17224435	17209581	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0019 a0003c0019	a0003c0019t0007 a0003c0019t0007	a0003c0019t0007g0053 a0003c0019t0007g0053	1	408	0.0025	c.97A others(2): Show c.97A>G	p.Thr others(5): Show p.Thr33Ala	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	2/10	223/4355	97/1536	33/511	chr22	TogoVar
ADAD1_chr4_122374011_122434784	122383949	G G	A A	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0001 a0003c0005t0001g0001	1	376	0.0027	c.512 others(3): Show c.512G>A	p.Arg others(6): Show p.Arg171Gln	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	5/13	699/1963	512/1731	171/576	chr4	TogoVar
ADAD1_chr4_122374011_122434784	122411349	A A	G G	missense_variant missense_variant	MODERATE	NA19003.hp2 NA19003.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0026 a0005c0008t0001g0026	1	376	0.0027	c.976 others(3): Show c.976A>G	p.Met others(6): Show p.Met326Val	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	9/13	1163/1963	976/1731	326/576	chr4	TogoVar
ADAD1_chr4_122374011_122434784	122412618	A A	G G	missense_variant missense_variant	MODERATE	HG04228.hp1 HG04228.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0096 a0004c0007t0001g0096	1	376	0.0027	c.105 others(4): Show c.1058A>G	p.Asn others(6): Show p.Asn353Ser	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	10/13	1245/1963	1058/1731	353/576	chr4	TogoVar
ADAD1_chr4_122374011_122434784	122415570	G G	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 NA18954.hp2 HG00597.hp2 NA18954.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0281 a0002c0003t0001g0283 a0002c0003t0001g0281 a0002c0003t0001g0283	2	376	0.0053	c.144 others(4): Show c.1441G>T	p.Val others(6): Show p.Val481Phe	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	11/13	1628/1963	1441/1731	481/576	chr4	TogoVar
ADAD2_chr16_84186157_84202166	84191283	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 NA18906.hp2 HG01243.hp1 NA18906.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0030 a0007c0014t0001g0030	2	470	0.0043	c.53G others(2): Show c.53G>A	p.Arg others(5): Show p.Arg18His	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	127/2018	53/1752	18/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84191295	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0010 a0010	a0010c0040 a0010c0040	a0010c0040t0007 a0010c0040t0007	a0010c0040t0007g0061 a0010c0040t0007g0061	1	470	0.0021	c.65C others(2): Show c.65C>T	p.Ser others(5): Show p.Ser22Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	139/2018	65/1752	22/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84191361	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(320): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(12): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0002 a0001c0004 a0001c0006 others(27): Show a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0013 a0001c0017 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0033 a0001c0035 a0003c0001 a0003c0015 a0003c0034 a0005c0010 a0006c0016 a0006c0027 a0007c0014 a0008c0018 a0009c0020 a0010c0040 a0012c0032 a0013c0030 a0014c0031 a0015c0029 a0016c0028 a0017c0025 a0018c0026	a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 others(35): Show a0001c0002t0001 a0001c0002t0008 a0001c0002t0010 a0001c0004t0001 a0001c0004t0003 a0001c0004t0004 a0001c0004t0009 a0001c0006t0001 a0001c0007t0001 a0001c0007t0004 a0001c0011t0001 a0001c0013t0001 a0001c0017t0001 a0001c0019t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0004 a0001c0033t0001 a0001c0035t0001 a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 a0003c0034t0001 a0005c0010t0006 a0006c0016t0007 a0006c0027t0007 a0007c0014t0001 a0008c0018t0003 a0008c0018t0004 a0009c0020t0003 a0010c0040t0007 a0012c0032t0001 a0013c0030t0001 a0014c0031t0001 a0015c0029t0001 a0016c0028t0001 a0017c0025t0001 a0018c0026t0001	a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0034 others(73): Show a0001c0002t0001g0001 a0001c0002t0001g0008 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0050 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0008g0001 a0001c0002t0010g0008 a0001c0004t0001g0010 a0001c0004t0001g0057 a0001c0004t0001g0058 a0001c0004t0001g0062 a0001c0004t0003g0006 a0001c0004t0003g0011 a0001c0004t0003g0032 a0001c0004t0004g0011 a0001c0004t0004g0012 a0001c0004t0004g0020 a0001c0004t0004g0024 a0001c0004t0004g0033 a0001c0004t0009g0010 a0001c0006t0001g0001 a0001c0006t0001g0015 a0001c0007t0001g0007 a0001c0007t0001g0019 a0001c0007t0004g0031 a0001c0011t0001g0016 a0001c0013t0001g0001 a0001c0013t0001g0035 a0001c0017t0001g0064 a0001c0017t0001g0068 a0001c0019t0001g0051 a0001c0019t0001g0060 a0001c0021t0001g0007 a0001c0023t0001g0001 a0001c0024t0004g0012 a0001c0033t0001g0001 a0001c0035t0001g0049 a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0056 a0003c0001t0001g0067 a0003c0001t0001g0069 a0003c0001t0001g0070 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0001g0077 a0003c0001t0006g0013 a0003c0001t0006g0078 a0003c0015t0001g0066 a0003c0015t0001g0071 a0003c0034t0001g0003 a0005c0010t0006g0013 a0006c0016t0007g0063 a0006c0016t0007g0065 a0006c0027t0007g0047 a0007c0014t0001g0030 a0008c0018t0003g0048 a0008c0018t0004g0006 a0009c0020t0003g0006 a0010c0040t0007g0061 a0012c0032t0001g0079 a0013c0030t0001g0001 a0014c0031t0001g0001 a0015c0029t0001g0001 a0016c0028t0001g0059 a0017c0025t0001g0003 a0018c0026t0001g0003	323	470	0.6872	c.131 others(3): Show c.131G>A	p.Gly others(5): Show p.Gly44Glu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	205/2018	131/1752	44/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84191361	G G	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00408.hp2	a0011 a0011	a0011c0036 a0011c0036	a0011c0036t0001 a0011c0036t0001	a0011c0036t0001g0019 a0011c0036t0001g0019	1	470	0.0021	c.131 others(3): Show c.131G>C	p.Gly others(5): Show p.Gly44Ala	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	1/10	205/2018	131/1752	44/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195164	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00544.hp1 others(122): Show HG00099.hp2 HG00280.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01978.hp1 HG02004.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18963.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18978.hp2 NA18981.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp1 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0017 a0018	a0003c0001 a0003c0015 a0003c0034 others(4): Show a0003c0001 a0003c0015 a0003c0034 a0004c0009 a0005c0010 a0017c0025 a0018c0026	a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 others(5): Show a0003c0001t0001 a0003c0001t0006 a0003c0015t0001 a0003c0034t0001 a0004c0009t0002 a0005c0010t0006 a0017c0025t0001 a0018c0026t0001	a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 others(23): Show a0003c0001t0001g0003 a0003c0001t0001g0004 a0003c0001t0001g0017 a0003c0001t0001g0021 a0003c0001t0001g0055 a0003c0001t0001g0056 a0003c0001t0001g0067 a0003c0001t0001g0069 a0003c0001t0001g0070 a0003c0001t0001g0072 a0003c0001t0001g0073 a0003c0001t0001g0074 a0003c0001t0001g0075 a0003c0001t0001g0076 a0003c0001t0001g0077 a0003c0001t0006g0013 a0003c0001t0006g0078 a0003c0015t0001g0066 a0003c0015t0001g0071 a0003c0034t0001g0003 a0004c0009t0002g0022 a0004c0009t0002g0028 a0004c0009t0002g0044 a0005c0010t0006g0013 a0017c0025t0001g0003 a0018c0026t0001g0003	125	470	0.2660	c.703 others(3): Show c.703G>C	p.Gly others(6): Show p.Gly235Arg	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	4/10	777/2018	703/1752	235/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195192	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01891.hp1 HG02615.hp1 HG03098.hp1 others(1): Show HG01891.hp1 HG02615.hp1 HG03098.hp1 HG03486.hp2	a0006 a0010 a0006 a0010	a0006c0016 a0006c0027 a0010c0040 a0006c0016 a0006c0027 a0010c0040	a0006c0016t0007 a0006c0027t0007 a0010c0040t0007 a0006c0016t0007 a0006c0027t0007 a0010c0040t0007	a0006c0016t0007g0063 a0006c0016t0007g0065 a0006c0027t0007g0047 others(1): Show a0006c0016t0007g0063 a0006c0016t0007g0065 a0006c0027t0007g0047 a0010c0040t0007g0061	4	470	0.0085	c.731 others(3): Show c.731G>A	p.Arg others(6): Show p.Arg244Lys	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	4/10	805/2018	731/1752	244/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195302	C C	T T	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0019 a0019	a0019c0039 a0019c0039	a0019c0039t0002 a0019c0039t0002	a0019c0039t0002g0002 a0019c0039t0002g0002	1	470	0.0021	c.740 others(3): Show c.740C>T	p.Pro others(6): Show p.Pro247Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	5/10	814/2018	740/1752	247/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195318	C C	A A	missense_variant missense_variant	MODERATE	NA18991.hp2 NA18991.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0001 a0016c0028t0001	a0016c0028t0001g0059 a0016c0028t0001g0059	1	470	0.0021	c.756 others(3): Show c.756C>A	p.His others(6): Show p.His252Gln	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	5/10	830/2018	756/1752	252/583	chr16	TogoVar
ADAD2_chr16_84186157_84202166	84195601	C C	T T	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0012 a0012	a0012c0032 a0012c0032	a0012c0032t0001 a0012c0032t0001	a0012c0032t0001g0079 a0012c0032t0001g0079	1	470	0.0021	c.956 others(3): Show c.956C>T	p.Pro others(6): Show p.Pro319Leu	ADAD2	ENSG00000140955.11	transcript	ENST00000315906.10	protein_coding	6/10	1030/2018	956/1752	319/583	chr16	TogoVar

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