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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
AMZ1_chr7_2683202_2724683	2700749	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00558.hp2	a0023 a0023	a0023c0051 a0023c0051	a0023c0051t0130 a0023c0051t0130	a0023c0051t0130g0391 a0023c0051t0130g0391	1	438	0.0023	c.298 others(3): Show c.298C>T	p.Pro others(6): Show p.Pro100Ser	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	2/7	611/8615	298/1497	100/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2708588	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03017.hp2 HG03017.hp2	a0022 a0022	a0022c0047 a0022c0047	a0022c0047t0150 a0022c0047t0150	a0022c0047t0150g0311 a0022c0047t0150g0311	1	438	0.0023	c.473 others(3): Show c.473A>G	p.Asp others(6): Show p.Asp158Gly	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	4/7	786/8615	473/1497	158/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2708590	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18946.hp1 NA19077.hp2 NA18946.hp1 NA19077.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0267 a0009c0017t0001g0268 a0009c0017t0001g0267 a0009c0017t0001g0268	2	438	0.0046	c.475 others(3): Show c.475G>A	p.Gly others(6): Show p.Gly159Ser	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	4/7	788/8615	475/1497	159/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2708593	A A	C C	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0034 a0008c0024t0034	a0008c0024t0034g0367 a0008c0024t0034g0368 a0008c0024t0034g0367 a0008c0024t0034g0368	2	438	0.0046	c.478 others(3): Show c.478A>C	p.Ile others(6): Show p.Ile160Leu	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	4/7	791/8615	478/1497	160/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2708599	T T	A A	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0004 a0005c0026t0137 a0005c0026t0004 a0005c0026t0137	a0005c0026t0004g0063 a0005c0026t0137g0062 a0005c0026t0004g0063 a0005c0026t0137g0062	2	438	0.0046	c.484 others(3): Show c.484T>A	p.Ser others(6): Show p.Ser162Thr	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	4/7	797/8615	484/1497	162/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709083	G G	A A	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0012 a0012	a0012c0028 a0012c0028	a0012c0028t0060 a0012c0028t0060	a0012c0028t0060g0314 a0012c0028t0060g0314	1	438	0.0023	c.610 others(3): Show c.610G>A	p.Val others(6): Show p.Val204Ile	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	5/7	923/8615	610/1497	204/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709128	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp1 HG02523.hp1	a0021 a0021	a0021c0046 a0021c0046	a0021c0046t0139 a0021c0046t0139	a0021c0046t0139g0091 a0021c0046t0139g0091	1	438	0.0023	c.655 others(3): Show c.655C>T	p.Pro others(6): Show p.Pro219Ser	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	5/7	968/8615	655/1497	219/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709131	A A	C C	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0001 a0013c0033t0001	a0013c0033t0001g0220 a0013c0033t0001g0220	1	438	0.0023	c.658 others(3): Show c.658A>C	p.Ser others(6): Show p.Ser220Arg	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	5/7	971/8615	658/1497	220/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709196	G G	T T	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0004 a0005c0026t0137 a0005c0026t0004 a0005c0026t0137	a0005c0026t0004g0063 a0005c0026t0137g0062 a0005c0026t0004g0063 a0005c0026t0137g0062	2	438	0.0046	c.723 others(3): Show c.723G>T	p.Arg others(6): Show p.Arg241Ser	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	5/7	1036/8615	723/1497	241/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709222	T T	C C	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01192.hp2	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0040 a0020c0035t0040	a0020c0035t0040g0018 a0020c0035t0040g0018	1	438	0.0023	c.749 others(3): Show c.749T>C	p.Leu others(6): Show p.Leu250Pro	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	5/7	1062/8615	749/1497	250/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709644	C C	T T	missense_variant missense_variant	MODERATE	NA18949.hp1 NA18949.hp1	a0014 a0014	a0014c0045 a0014c0045	a0014c0045t0014 a0014c0045t0014	a0014c0045t0014g0346 a0014c0045t0014g0346	1	438	0.0023	c.776 others(3): Show c.776C>T	p.Thr others(6): Show p.Thr259Met	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	6/7	1089/8615	776/1497	259/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709647	G G	A A	missense_variant missense_variant	MODERATE	HG00621.hp2 HG00621.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0001 a0019c0030t0001	a0019c0030t0001g0236 a0019c0030t0001g0236	1	438	0.0023	c.779 others(3): Show c.779G>A	p.Cys others(6): Show p.Cys260Tyr	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	6/7	1092/8615	779/1497	260/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2709739	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG01099.hp1 HG00558.hp2 HG01099.hp1	a0018 a0023 a0018 a0023	a0018c0044 a0023c0051 a0018c0044 a0023c0051	a0018c0044t0003 a0023c0051t0130 a0018c0044t0003 a0023c0051t0130	a0018c0044t0003g0403 a0023c0051t0130g0391 a0018c0044t0003g0403 a0023c0051t0130g0391	2	438	0.0046	c.871 others(3): Show c.871C>T	p.Arg others(6): Show p.Arg291Trp	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	6/7	1184/8615	871/1497	291/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712412	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0015 a0015	a0015c0043 a0015c0043	a0015c0043t0009 a0015c0043t0009	a0015c0043t0009g0082 a0015c0043t0009g0082	1	438	0.0023	c.103 others(4): Show c.1031C>T	p.Pro others(6): Show p.Pro344Leu	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1344/8615	1031/1497	344/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712546	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 NA20129.hp2 HG02622.hp1 NA20129.hp2	a0007 a0007	a0007c0025 a0007c0025	a0007c0025t0003 a0007c0025t0152 a0007c0025t0003 a0007c0025t0152	a0007c0025t0003g0167 a0007c0025t0152g0020 a0007c0025t0003g0167 a0007c0025t0152g0020	2	438	0.0046	c.116 others(4): Show c.1165G>A	p.Ala others(6): Show p.Ala389Thr	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1478/8615	1165/1497	389/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712562	C C	T T	missense_variant missense_variant	MODERATE	HG03139.hp1 HG03139.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0002 a0016c0037t0002	a0016c0037t0002g0206 a0016c0037t0002g0206	1	438	0.0023	c.118 others(4): Show c.1181C>T	p.Pro others(6): Show p.Pro394Leu	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1494/8615	1181/1497	394/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712688	C C	T T	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18954.hp1 NA18963.hp1 others(8): Show NA18951.hp1 NA18954.hp1 NA18963.hp1 NA18964.hp2 NA18977.hp2 NA19001.hp1 NA19060.hp2 NA19081.hp2 NA19084.hp2 NA19088.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0006 a0003c0039 a0003c0006 a0003c0039	a0003c0006t0007 a0003c0006t0079 a0003c0006t0085 others(1): Show a0003c0006t0007 a0003c0006t0079 a0003c0006t0085 a0003c0039t0129	a0003c0006t0007g0002 a0003c0006t0007g0033 a0003c0006t0007g0034 others(6): Show a0003c0006t0007g0002 a0003c0006t0007g0033 a0003c0006t0007g0034 a0003c0006t0007g0035 a0003c0006t0007g0036 a0003c0006t0007g0410 a0003c0006t0079g0031 a0003c0006t0085g0032 a0003c0039t0129g0348	11	438	0.0251	c.130 others(4): Show c.1307C>T	p.Ala others(6): Show p.Ala436Val	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1620/8615	1307/1497	436/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712696	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02572.hp2 HG02698.hp1 others(3): Show HG02486.hp1 HG02572.hp2 HG02698.hp1 HG03710.hp2 NA19065.hp2 NA20300.hp2	a0004 a0006 a0004 a0006	a0004c0019 a0004c0020 a0006c0038 others(1): Show a0004c0019 a0004c0020 a0006c0038 a0006c0049	a0004c0019t0001 a0004c0019t0081 a0004c0020t0004 others(3): Show a0004c0019t0001 a0004c0019t0081 a0004c0020t0004 a0004c0020t0089 a0006c0038t0106 a0006c0049t0025	a0004c0019t0001g0318 a0004c0019t0081g0166 a0004c0020t0004g0057 others(3): Show a0004c0019t0001g0318 a0004c0019t0081g0166 a0004c0020t0004g0057 a0004c0020t0089g0408 a0006c0038t0106g0207 a0006c0049t0025g0145	6	438	0.0137	c.131 others(4): Show c.1315C>T	p.Arg others(6): Show p.Arg439Cys	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1628/8615	1315/1497	439/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712712	C C	T T	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0002 a0017c0036t0002	a0017c0036t0002g0060 a0017c0036t0002g0060	1	438	0.0023	c.133 others(4): Show c.1331C>T	p.Thr others(6): Show p.Thr444Met	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1644/8615	1331/1497	444/498	chr7	TogoVar
AMZ1_chr7_2683202_2724683	2712853	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(104): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18940.hp2 NA18949.hp2 NA18951.hp2 NA18977.hp1 NA18989.hp2 NA18997.hp1 NA19001.hp2 NA19003.hp1 NA19005.hp2 NA19030.hp2 NA19074.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2	a0002 a0006 a0007 others(3): Show a0002 a0006 a0007 a0018 a0020 a0022	a0002c0003 a0002c0007 a0002c0010 others(13): Show a0002c0003 a0002c0007 a0002c0010 a0002c0012 a0002c0015 a0002c0027 a0002c0034 a0002c0041 a0002c0048 a0002c0052 a0006c0038 a0006c0049 a0007c0025 a0018c0044 a0020c0035 a0022c0047	a0002c0003t0003 a0002c0003t0006 a0002c0003t0018 others(59): Show a0002c0003t0003 a0002c0003t0006 a0002c0003t0018 a0002c0003t0025 a0002c0003t0026 a0002c0003t0027 a0002c0003t0036 a0002c0003t0037 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040 a0002c0003t0099 a0002c0003t0100 a0002c0003t0101 a0002c0003t0102 a0002c0003t0103 a0002c0003t0104 a0002c0003t0105 a0002c0003t0107 a0002c0003t0108 a0002c0003t0109 a0002c0003t0110 a0002c0003t0111 a0002c0003t0112 a0002c0003t0143 a0002c0003t0145 a0002c0003t0146 a0002c0003t0147 a0002c0003t0148 a0002c0003t0149 a0002c0003t0153 a0002c0003t0154 a0002c0003t0155 a0002c0003t0160 a0002c0007t0013 a0002c0007t0018 a0002c0007t0049 a0002c0007t0156 a0002c0010t0003 a0002c0010t0131 a0002c0010t0144 a0002c0010t0151 a0002c0010t0157 a0002c0012t0025 a0002c0012t0041 a0002c0012t0114 a0002c0012t0115 a0002c0015t0052 a0002c0015t0053 a0002c0015t0117 a0002c0027t0116 a0002c0034t0006 a0002c0041t0006 a0002c0048t0013 a0002c0052t0041 a0006c0038t0106 a0006c0049t0025 a0007c0025t0003 a0007c0025t0152 a0018c0044t0003 a0020c0035t0040 a0022c0047t0150	a0002c0003t0003g0006 a0002c0003t0003g0008 a0002c0003t0003g0009 others(101): Show a0002c0003t0003g0006 a0002c0003t0003g0008 a0002c0003t0003g0009 a0002c0003t0003g0011 a0002c0003t0003g0055 a0002c0003t0003g0084 a0002c0003t0003g0092 a0002c0003t0003g0100 a0002c0003t0003g0110 a0002c0003t0003g0116 a0002c0003t0003g0121 a0002c0003t0003g0122 a0002c0003t0003g0219 a0002c0003t0003g0240 a0002c0003t0003g0253 a0002c0003t0003g0298 a0002c0003t0003g0357 a0002c0003t0003g0396 a0002c0003t0003g0400 a0002c0003t0003g0405 a0002c0003t0006g0014 a0002c0003t0006g0016 a0002c0003t0006g0024 a0002c0003t0006g0129 a0002c0003t0006g0132 a0002c0003t0006g0140 a0002c0003t0006g0147 a0002c0003t0006g0281 a0002c0003t0006g0282 a0002c0003t0006g0283 a0002c0003t0018g0138 a0002c0003t0018g0342 a0002c0003t0018g0398 a0002c0003t0025g0111 a0002c0003t0026g0370 a0002c0003t0026g0371 a0002c0003t0026g0413 a0002c0003t0027g0260 a0002c0003t0027g0274 a0002c0003t0027g0393 a0002c0003t0036g0030 a0002c0003t0036g0117 a0002c0003t0037g0146 a0002c0003t0037g0284 a0002c0003t0038g0144 a0002c0003t0038g0171 a0002c0003t0039g0328 a0002c0003t0039g0330 a0002c0003t0040g0134 a0002c0003t0099g0114 a0002c0003t0100g0126 a0002c0003t0101g0113 a0002c0003t0102g0028 a0002c0003t0103g0279 a0002c0003t0104g0308 a0002c0003t0105g0280 a0002c0003t0107g0016 a0002c0003t0108g0142 a0002c0003t0109g0022 a0002c0003t0110g0172 a0002c0003t0111g0118 a0002c0003t0112g0135 a0002c0003t0143g0008 a0002c0003t0145g0107 a0002c0003t0146g0054 a0002c0003t0147g0358 a0002c0003t0148g0404 a0002c0003t0149g0089 a0002c0003t0153g0373 a0002c0003t0154g0411 a0002c0003t0155g0264 a0002c0003t0160g0139 a0002c0007t0013g0047 a0002c0007t0013g0088 a0002c0007t0013g0161 a0002c0007t0013g0389 a0002c0007t0018g0120 a0002c0007t0049g0042 a0002c0007t0156g0154 a0002c0010t0003g0041 a0002c0010t0003g0043 a0002c0010t0131g0046 a0002c0010t0144g0136 a0002c0010t0151g0045 a0002c0010t0157g0044 a0002c0012t0025g0300 a0002c0012t0041g0164 a0002c0012t0114g0163 a0002c0012t0115g0162 a0002c0015t0052g0141 a0002c0015t0053g0040 a0002c0015t0117g0026 a0002c0027t0116g0322 a0002c0034t0006g0027 a0002c0041t0006g0038 a0002c0048t0013g0390 a0002c0052t0041g0165 a0006c0038t0106g0207 a0006c0049t0025g0145 a0007c0025t0003g0167 a0007c0025t0152g0020 a0018c0044t0003g0403 a0020c0035t0040g0018 a0022c0047t0150g0311	107	438	0.2443	c.147 others(4): Show c.1472G>A	p.Arg others(6): Show p.Arg491His	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	7/7	1785/8615	1472/1497	491/498	chr7	TogoVar
AMZ2_chr17_68243043_68262155	68250275	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(333): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.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 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0003c0004 a0004c0007 a0005c0009 a0006c0010 a0007c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0002t0001 a0001c0002t0010 a0001c0006t0009 a0001c0008t0001 a0003c0004t0001 a0004c0007t0001 a0005c0009t0001 a0006c0010t0001 a0007c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(51): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0007 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0003g0004 a0001c0001t0003g0024 a0001c0001t0003g0041 a0001c0001t0005g0011 a0001c0001t0007g0002 a0001c0001t0008g0002 a0001c0001t0011g0007 a0001c0001t0012g0043 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0030 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0057 a0001c0002t0010g0001 a0001c0006t0009g0026 a0001c0008t0001g0002 a0003c0004t0001g0019 a0003c0004t0001g0033 a0003c0004t0001g0058 a0004c0007t0001g0003 a0005c0009t0001g0010 a0006c0010t0001g0002 a0007c0011t0001g0021	336	438	0.7671	c.88A others(2): Show c.88A>G	p.Asn others(5): Show p.Asn30Asp	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding	2/7	751/1932	88/1083	30/360	chr17	TogoVar
AMZ2_chr17_68243043_68262155	68250935	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0021 a0007c0011t0001g0021	1	438	0.0023	c.425 others(3): Show c.425A>G	p.Asn others(6): Show p.Asn142Ser	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding	3/7	1088/1932	425/1083	142/360	chr17	TogoVar
AMZ2_chr17_68243043_68262155	68251096	C C	G G	missense_variant missense_variant	MODERATE	HG02129.hp1 HG02129.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0002 a0006c0010t0001g0002	1	438	0.0023	c.504 others(3): Show c.504C>G	p.Phe others(6): Show p.Phe168Leu	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding	4/7	1167/1932	504/1083	168/360	chr17	TogoVar
AMZ2_chr17_68243043_68262155	68255796	C C	T T	missense_variant missense_variant	MODERATE	NA18953.hp1 NA18970.hp2 NA18953.hp1 NA18970.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0003 a0004c0007t0001g0003	2	438	0.0046	c.847 others(3): Show c.847C>T	p.Arg others(6): Show p.Arg283Trp	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding	6/7	1510/1932	847/1083	283/360	chr17	TogoVar
AMZ2_chr17_68243043_68262155	68256878	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02976.hp2 HG03486.hp2 others(2): Show HG02109.hp2 HG02976.hp2 HG03486.hp2 NA18906.hp2 NA19043.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0019 a0003c0004t0001g0033 a0003c0004t0001g0058 a0003c0004t0001g0019 a0003c0004t0001g0033 a0003c0004t0001g0058	5	438	0.0114	c.992 others(3): Show c.992A>G	p.His others(6): Show p.His331Arg	AMZ2	ENSG00000196704.14	transcript	ENST00000359904.8	protein_coding	7/7	1655/1932	992/1083	331/360	chr17	TogoVar
ANAPC16_chr10_72211012_72240860	72224009	G G	A A	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0024 a0002c0004t0003g0024	1	352	0.0028	c.95G others(2): Show c.95G>A	p.Arg others(5): Show p.Arg32Gln	ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	2/4	249/3231	95/333	32/110	chr10	TogoVar
ANAPC1_chr2_111762640_111889193	111772473	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0003 a0011c0022t0003	a0011c0022t0003g0338 a0011c0022t0003g0338	1	370	0.0027	c.558 others(4): Show c.5587G>A	p.Gly others(7): Show p.Gly1863Arg	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	47/48	5863/7762	5587/5835	1863/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111794080	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0001 a0010c0024t0001	a0010c0024t0001g0073 a0010c0024t0001g0073	1	370	0.0027	c.451 others(4): Show c.4516G>A	p.Val others(7): Show p.Val1506Ile	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	37/48	4792/7762	4516/5835	1506/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111818949	T T	A A	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0003 a0009c0026t0003	a0009c0026t0003g0345 a0009c0026t0003g0345	1	370	0.0027	c.321 others(4): Show c.3216A>T	p.Gln others(7): Show p.Gln1072His	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	27/48	3492/7762	3216/5835	1072/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111824989	A A	C C	missense_variant missense_variant	MODERATE	HG02293.hp1 HG02293.hp1	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0131 a0012c0023t0001g0131	1	370	0.0027	c.278 others(4): Show c.2789T>G	p.Leu others(6): Show p.Leu930Trp	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	24/48	3065/7762	2789/5835	930/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111825789	T T	C C	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0008 a0008	a0008c0019 a0008c0019	a0008c0019t0003 a0008c0019t0003	a0008c0019t0003g0170 a0008c0019t0003g0170	1	370	0.0027	c.269 others(4): Show c.2692A>G	p.Arg others(6): Show p.Arg898Gly	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	22/48	2968/7762	2692/5835	898/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111825797	T T	C C	missense_variant missense_variant	MODERATE	HG03239.hp1 HG03239.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0005 a0007c0020t0005	a0007c0020t0005g0009 a0007c0020t0005g0009	1	370	0.0027	c.268 others(4): Show c.2684A>G	p.Tyr others(6): Show p.Tyr895Cys	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	22/48	2960/7762	2684/5835	895/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111831398	G G	A A	missense_variant missense_variant	MODERATE	HG02056.hp2 HG02056.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0005 a0006c0021t0005	a0006c0021t0005g0014 a0006c0021t0005g0014	1	370	0.0027	c.251 others(4): Show c.2513C>T	p.Thr others(6): Show p.Thr838Met	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	21/48	2789/7762	2513/5835	838/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111843541	C C	A A	missense_variant missense_variant	MODERATE	HG04184.hp1 HG04184.hp1	a0005 a0005	a0005c0027 a0005c0027	a0005c0027t0001 a0005c0027t0001	a0005c0027t0001g0043 a0005c0027t0001g0043	1	370	0.0027	c.191 others(4): Show c.1911G>T	p.Met others(6): Show p.Met637Ile	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	17/48	2187/7762	1911/5835	637/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111850847	G G	A A	missense_variant missense_variant	MODERATE	NA18747.hp2 NA18747.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0001 a0013c0028t0001	a0013c0028t0001g0061 a0013c0028t0001g0061	1	370	0.0027	c.157 others(4): Show c.1579C>T	p.Arg others(6): Show p.Arg527Trp	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	14/48	1855/7762	1579/5835	527/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111863856	T T	C C	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0030 a0004c0030	a0004c0030t0004 a0004c0030t0004	a0004c0030t0004g0285 a0004c0030t0004g0285	1	370	0.0027	c.871 others(3): Show c.871A>G	p.Thr others(6): Show p.Thr291Ala	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	9/48	1147/7762	871/5835	291/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111864889	T T	C C	missense_variant missense_variant	MODERATE	NA18981.hp2 NA18981.hp2	a0003 a0003	a0003c0031 a0003c0031	a0003c0031t0001 a0003c0031t0001	a0003c0031t0001g0124 a0003c0031t0001g0124	1	370	0.0027	c.748 others(3): Show c.748A>G	p.Asn others(6): Show p.Asn250Asp	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	8/48	1024/7762	748/5835	250/1944	chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111872696	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0007 a0002c0032t0007	a0002c0032t0007g0253 a0002c0032t0007g0253	1	370	0.0027	c.545 others(3): Show c.545C>T	p.Pro others(6): Show p.Pro182Leu	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	6/48	821/7762	545/5835	182/1944	chr2	TogoVar
ANAPC2_chr9_137169784_137193560	137175318	G G	T T	missense_variant missense_variant	MODERATE	NA19009.hp1 NA19074.hp2 NA19009.hp1 NA19074.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0040 a0002c0007t0001g0040	2	416	0.0048	c.217 others(4): Show c.2175C>A	p.Asp others(6): Show p.Asp725Glu	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	12/13	2203/2655	2175/2469	725/822	chr9	TogoVar
ANAPC2_chr9_137169784_137193560	137175837	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0162 a0003c0014t0001g0162	1	416	0.0024	c.189 others(4): Show c.1891G>A	p.Ala others(6): Show p.Ala631Thr	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	11/13	1919/2655	1891/2469	631/822	chr9	TogoVar
ANAPC2_chr9_137169784_137193560	137181855	C C	T T	missense_variant missense_variant	MODERATE	NA18987.hp2 NA18987.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0006 a0004c0010t0006	a0004c0010t0006g0082 a0004c0010t0006g0082	1	416	0.0024	c.129 others(4): Show c.1294G>A	p.Glu others(6): Show p.Glu432Lys	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	7/13	1322/2655	1294/2469	432/822	chr9	TogoVar
ANAPC2_chr9_137169784_137193560	137187904	T T	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0181 a0005c0015t0001g0181	1	416	0.0024	c.317 others(3): Show c.317A>G	p.Gln others(6): Show p.Gln106Arg	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	2/13	345/2655	317/2469	106/822	chr9	TogoVar
ANAPC2_chr9_137169784_137193560	137188528	G G	T T	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0065 a0006c0009t0001g0065	1	416	0.0024	c.5C> others(1): Show c.5C>A	p.Ala others(4): Show p.Ala2Glu	ANAPC2	ENSG00000176248.9	transcript	ENST00000323927.3	protein_coding	1/13	33/2655	5/2469	2/822	chr9	TogoVar
ANAPC4_chr4_25372263_25423498	25407216	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00639.hp2 others(11): Show HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01081.hp2 HG01257.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG04228.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0045 a0002c0006t0001g0133 a0002c0006t0001g0001 a0002c0006t0001g0045 a0002c0006t0001g0133	14	456	0.0307	c.139 others(4): Show c.1394G>A	p.Arg others(6): Show p.Arg465Gln	ANAPC4	ENSG00000053900.11	transcript	ENST00000315368.8	protein_coding	20/29	1486/2635	1394/2427	465/808	chr4	TogoVar
ANAPC4_chr4_25372263_25423498	25418308	C C	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0034 a0003c0007t0001g0034	2	456	0.0044	c.235 others(4): Show c.2353C>A	p.Gln others(6): Show p.Gln785Lys	ANAPC4	ENSG00000053900.11	transcript	ENST00000315368.8	protein_coding	29/29	2445/2635	2353/2427	785/808	chr4	TogoVar
ANAPC5_chr12_121303245_121357411	121318281	G G	A A	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0228 a0002c0007t0001g0228	1	278	0.0036	c.188 others(4): Show c.1889C>T	p.Ala others(6): Show p.Ala630Val	ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding	15/17	1960/2574	1889/2268	630/755	chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110382925	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0035 a0003c0004t0001g0035	1	298	0.0034	c.853 others(3): Show c.853G>A	p.Gly others(6): Show p.Gly285Arg	ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/11	934/3023	853/1698	285/565	chr12	TogoVar
ANGEL1_chr14_76781009_76817882	76789322	A A	G G	missense_variant missense_variant	MODERATE	HG03486.hp1 HG03486.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0118 a0010c0015t0001g0118	1	396	0.0025	c.191 others(4): Show c.1919T>C	p.Ile others(6): Show p.Ile640Thr	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	10/10	1974/5287	1919/2013	640/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76803443	G G	A A	missense_variant missense_variant	MODERATE	NA19090.hp2 NA19090.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0001 a0009c0013t0001	a0009c0013t0001g0099 a0009c0013t0001g0099	1	396	0.0025	c.154 others(4): Show c.1546C>T	p.Arg others(6): Show p.Arg516Cys	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/10	1601/5287	1546/2013	516/670	chr14	TogoVar
ANGEL1_chr14_76781009_76817882	76803445	A A	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00621.hp2 HG01167.hp2 others(64): Show HG00099.hp2 HG00621.hp2 HG01167.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp1 HG02738.hp1 HG02818.hp1 HG02897.hp1 HG03130.hp2 HG03471.hp1 HG03516.hp1 HG03704.hp2 HG03927.hp1 NA18747.hp1 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp2 NA18954.hp2 NA18956.hp2 NA18957.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18978.hp1 NA18981.hp1 NA18982.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19089.hp2 NA19091.hp1 NA20805.hp1 NA20905.hp1	a0002 a0011 a0002 a0011	a0002c0002 a0011c0010 a0002c0002 a0011c0010	a0002c0002t0003 a0002c0002t0021 a0002c0002t0028 others(2): Show a0002c0002t0003 a0002c0002t0021 a0002c0002t0028 a0002c0002t0029 a0011c0010t0003	a0002c0002t0003g0007 a0002c0002t0003g0018 a0002c0002t0003g0043 others(58): Show a0002c0002t0003g0007 a0002c0002t0003g0018 a0002c0002t0003g0043 a0002c0002t0003g0227 a0002c0002t0003g0229 a0002c0002t0003g0230 a0002c0002t0003g0231 a0002c0002t0003g0232 a0002c0002t0003g0233 a0002c0002t0003g0234 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0003g0237 a0002c0002t0003g0238 a0002c0002t0003g0239 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0250 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0003g0255 a0002c0002t0003g0256 a0002c0002t0003g0257 a0002c0002t0003g0258 a0002c0002t0003g0259 a0002c0002t0003g0260 a0002c0002t0003g0261 a0002c0002t0003g0262 a0002c0002t0003g0263 a0002c0002t0003g0264 a0002c0002t0003g0265 a0002c0002t0003g0266 a0002c0002t0003g0267 a0002c0002t0003g0268 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0271 a0002c0002t0003g0272 a0002c0002t0003g0274 a0002c0002t0003g0275 a0002c0002t0003g0276 a0002c0002t0003g0277 a0002c0002t0003g0278 a0002c0002t0003g0279 a0002c0002t0003g0280 a0002c0002t0003g0281 a0002c0002t0003g0282 a0002c0002t0003g0284 a0002c0002t0003g0285 a0002c0002t0021g0252 a0002c0002t0028g0228 a0002c0002t0029g0273 a0011c0010t0003g0251	67	396	0.1692	c.154 others(4): Show c.1544T>G	p.Phe others(6): Show p.Phe515Cys	ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	7/10	1599/5287	1544/2013	515/670	chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)