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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
AMTN_chr4_70513569_70537743	70524865	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	458	0.0022	0	c.205 others(5): Show c.205-7C>T		AMTN	ENSG00000187689.10	transcript	ENST00000339336.9	protein_coding	4/8						chr4	TogoVar
AMT_chr3_49411778_49427473	49419154	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	0	c.697 others(5): Show c.697-3C>A		AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/8						chr3	TogoVar
AMT_chr3_49411778_49427473	49419156	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02055.hp2 HG02055.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0039 a0007c0010t0001g0039	1	358	0.0028	0	c.697 others(5): Show c.697-5T>A		AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding	6/8						chr3	TogoVar
AMY1A_chr1_103650760_103669554	103660486	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00408.hp2 HG00544.hp1 others(109): Show HG00140.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp1 NA18954.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18981.hp2 NA18985.hp2 NA18988.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19011.hp1 NA19059.hp1 NA19060.hp1 NA19068.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp2	a0001 a0004 a0008 others(3): Show a0001 a0004 a0008 a0009 a0010 a0011	a0001c0001 a0001c0010 a0001c0013 others(5): Show a0001c0001 a0001c0010 a0001c0013 a0004c0016 a0008c0011 a0009c0015 a0010c0014 a0011c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0010t0001 a0001c0013t0001 a0004c0016t0001 a0008c0011t0001 a0009c0015t0001 a0010c0014t0001 a0011c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(52): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0002g0045 a0001c0001t0003g0011 a0001c0010t0001g0009 a0001c0013t0001g0019 a0004c0016t0001g0010 a0008c0011t0001g0010 a0009c0015t0001g0069 a0010c0014t0001g0070 a0011c0006t0001g0034	112	230	0.4870	0	c.100 others(6): Show c.1001+4A>G		AMY1A	ENSG00000237763.10	transcript	ENST00000370083.9	protein_coding	7/10						chr1	TogoVar
AMY1B_chr1_103682415_103701210	103691484	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp1 HG01069.hp2 HG01071.hp1 others(23): Show HG00558.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01516.hp1 HG01943.hp1 HG02132.hp2 HG02257.hp1 HG02273.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02738.hp1 HG02818.hp2 HG02897.hp2 HG03017.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA19066.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0004 a0001c0001 a0008c0004	a0001c0001t0001 a0008c0004t0001 a0001c0001t0001 a0008c0004t0001	a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0019 others(14): Show a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0008c0004t0001g0038	26	160	0.1625	0	c.100 others(6): Show c.1001+4G>A		AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	7/10						chr1	TogoVar
AMY1B_chr1_103682415_103701210	103692567	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 HG06807.hp2 HG06807.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0072 a0001c0001t0001g0041 a0001c0001t0001g0072	2	160	0.0125	0	c.745 others(5): Show c.745-7C>T		AMY1B	ENSG00000174876.17	transcript	ENST00000330330.10	protein_coding	5/10						chr1	TogoVar
AMY1C_chr1_103744898_103763692	103750978	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	340	0.0029	0	c.169 others(5): Show c.169-5T>C		AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	2/10						chr1	TogoVar
AMY1C_chr1_103744898_103763692	103754625	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp2 HG00438.hp1 others(25): Show HG00099.hp2 HG00140.hp2 HG00438.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01257.hp1 HG01346.hp2 HG02055.hp1 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp2 HG03098.hp2 HG03688.hp2 HG06807.hp1 NA18955.hp2 NA18977.hp1 NA19030.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 others(15): Show a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0078 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0005c0006t0001g0091	28	340	0.0824	0	c.100 others(6): Show c.1001+4G>A		AMY1C	ENSG00000187733.7	transcript	ENST00000622339.5	protein_coding	7/10						chr1	TogoVar
AMY2A_chr1_103612427_103630780	103618903	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	312	0.0032	0	c.316 others(5): Show c.316-8T>C		AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	2/9						chr1	TogoVar
AMY2B_chr1_103566589_103584534	103573943	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00438.hp1 HG00558.hp1 others(59): Show HG00099.hp2 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG01069.hp1 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01516.hp1 HG01952.hp2 HG01981.hp1 HG02027.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp1 HG02717.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19003.hp1 NA19004.hp2 NA19006.hp1 NA19012.hp1 NA19055.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19080.hp1 NA19086.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073	62	408	0.1520	0	c.744 others(5): Show c.744+5A>T		AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	4/9						chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577484	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	408	0.0025	0	c.110 others(6): Show c.1102-6A>C		AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	7/9						chr1	TogoVar
AMY2B_chr1_103566589_103584534	103577853	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18951.hp2 NA18977.hp2 NA18988.hp1 NA18951.hp2 NA18977.hp2 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	3	408	0.0074	0	c.134 others(6): Show c.1346+8C>A		AMY2B	ENSG00000240038.8	transcript	ENST00000684275.1	protein_coding	9/9						chr1	TogoVar
AMZ1_chr7_2683202_2724683	2688304	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01192.hp2 HG01192.hp2	a0020 a0020	a0020c0035 a0020c0035	a0020c0035t0040 a0020c0035t0040	a0020c0035t0040g0018 a0020c0035t0040g0018	1	438	0.0023	0	c.-21 others(6): Show c.-219+8G>A		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	1/6						chr7	TogoVar
AMZ1_chr7_2683202_2724683	2702716	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	438	0.0023	0	c.305 others(5): Show c.305-6C>T		AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	2/6						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	0	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	0	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	2708715	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18968.hp2 NA18974.hp2 NA19011.hp1 others(4): Show NA18968.hp2 NA18974.hp2 NA19011.hp1 NA19056.hp1 NA19057.hp1 NA19059.hp2 NA19062.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0032 a0001c0008t0033 a0001c0008t0045 others(1): Show a0001c0008t0032 a0001c0008t0033 a0001c0008t0045 a0001c0008t0061	a0001c0008t0032g0303 a0001c0008t0032g0304 a0001c0008t0033g0302 others(4): Show a0001c0008t0032g0303 a0001c0008t0032g0304 a0001c0008t0033g0302 a0001c0008t0033g0305 a0001c0008t0045g0185 a0001c0008t0045g0226 a0001c0008t0061g0397	7	438	0.0160	0	c.600 others(3): Show c.600C>T	p.His others(6): Show p.His200His	AMZ1	ENSG00000174945.14	transcript	ENST00000683327.1	protein_coding	4/7	913/8615	600/1497	200/498			chr7	TogoVar
ANAPC11_chr17_81886723_81905255	81894460	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	312	0.0032	0	c.-11 others(5): Show c.-11-7G>A		ANAPC11	ENSG00000141552.18	transcript	ENST00000344877.10	protein_coding	2/3						chr17	TogoVar
ANAPC11_chr17_81886723_81905255	81894463	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01891.hp1 NA18522.hp1 HG01891.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0027 a0001c0001t0001g0046	2	312	0.0064	0	c.-11 others(5): Show c.-11-4G>A		ANAPC11	ENSG00000141552.18	transcript	ENST00000344877.10	protein_coding	2/3						chr17	TogoVar
ANAPC13_chr3_134472706_134490985	134485954	G G	A A	splice_region_variant splice_region_variant	LOW	HG01167.hp2 HG01169.hp1 HG02630.hp1 others(10): Show HG01167.hp2 HG01169.hp1 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03579.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0053	13	394	0.0330	0	c.-30 others(3): Show c.-30C>T		ANAPC13	ENSG00000129055.13	transcript	ENST00000354910.10	protein_coding	1/3						chr3	TogoVar
ANAPC15_chr11_72104587_72117695	72111496	T T	C C	splice_region_variant splice_region_variant	LOW	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0018 a0001c0001t0004g0018	1	408	0.0025	0	c.-95 others(3): Show c.-95A>G		ANAPC15	ENSG00000110200.9	transcript	ENST00000227618.9	protein_coding	2/6						chr11	TogoVar
ANAPC16_chr10_72211012_72240860	72223880	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18946.hp1 NA18959.hp1 NA18946.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0059 a0001c0001t0003g0060	2	352	0.0057	0	c.-27 others(5): Show c.-27-8C>G		ANAPC16	ENSG00000166295.9	transcript	ENST00000299381.5	protein_coding	1/3						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	0	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	0	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	111802513	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00544.hp2 HG00609.hp2 others(59): Show HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG04228.hp2 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp1 NA18968.hp1 NA18970.hp2 NA18999.hp1 NA19001.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19072.hp2 NA19075.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0007 a0001c0010 others(3): Show a0001c0003 a0001c0007 a0001c0010 a0001c0016 a0002c0032 a0004c0030	a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 others(6): Show a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 a0001c0007t0004 a0001c0007t0007 a0001c0010t0007 a0001c0016t0007 a0002c0032t0007 a0004c0030t0004	a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 others(59): Show a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0268 a0001c0003t0004g0269 a0001c0003t0004g0270 a0001c0003t0004g0271 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0004g0277 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0284 a0001c0003t0004g0286 a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0018g0295 a0001c0003t0019g0283 a0001c0007t0004g0359 a0001c0007t0004g0360 a0001c0007t0004g0361 a0001c0007t0004g0362 a0001c0007t0004g0363 a0001c0007t0004g0364 a0001c0007t0007g0254 a0001c0007t0007g0255 a0001c0007t0007g0256 a0001c0007t0007g0257 a0001c0007t0007g0258 a0001c0007t0007g0259 a0001c0007t0007g0260 a0001c0007t0007g0261 a0001c0010t0007g0311 a0001c0010t0007g0312 a0001c0010t0007g0313 a0001c0016t0007g0252 a0002c0032t0007g0253 a0004c0030t0004g0285	62	370	0.1676	0	c.414 others(6): Show c.4143-7C>T		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	32/47						chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111808940	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00544.hp2 HG00609.hp2 others(56): Show HG00280.hp1 HG00544.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp2 HG01358.hp1 HG01928.hp2 HG01952.hp1 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02080.hp1 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp2 HG03491.hp1 HG03654.hp2 HG03710.hp2 HG03831.hp2 HG04228.hp2 NA18906.hp1 NA18943.hp2 NA18948.hp1 NA18953.hp1 NA18968.hp1 NA18970.hp2 NA18999.hp1 NA19001.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19063.hp1 NA19065.hp2 NA19072.hp2 NA19075.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0007 a0001c0016 others(2): Show a0001c0003 a0001c0007 a0001c0016 a0002c0032 a0004c0030	a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 others(5): Show a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 a0001c0007t0004 a0001c0007t0007 a0001c0016t0007 a0002c0032t0007 a0004c0030t0004	a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 others(56): Show a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0268 a0001c0003t0004g0269 a0001c0003t0004g0270 a0001c0003t0004g0271 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0004g0277 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0284 a0001c0003t0004g0286 a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0018g0295 a0001c0003t0019g0283 a0001c0007t0004g0359 a0001c0007t0004g0360 a0001c0007t0004g0361 a0001c0007t0004g0362 a0001c0007t0004g0363 a0001c0007t0004g0364 a0001c0007t0007g0254 a0001c0007t0007g0255 a0001c0007t0007g0256 a0001c0007t0007g0257 a0001c0007t0007g0258 a0001c0007t0007g0259 a0001c0007t0007g0260 a0001c0007t0007g0261 a0001c0016t0007g0252 a0002c0032t0007g0253 a0004c0030t0004g0285	59	370	0.1595	0	c.383 others(6): Show c.3832+7G>A		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	29/47						chr2	TogoVar
ANAPC1_chr2_111762640_111889193	111847725	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(198): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA18989.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19078.hp1 NA19081.hp2 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0007 a0008	a0001c0002 a0001c0003 a0001c0004 others(14): Show a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0029 a0002c0032 a0004c0030 a0006c0021 a0007c0020 a0008c0019	a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 others(22): Show a0001c0002t0002 a0001c0002t0004 a0001c0003t0004 a0001c0003t0018 a0001c0003t0019 a0001c0004t0003 a0001c0004t0017 a0001c0006t0005 a0001c0006t0013 a0001c0006t0016 a0001c0007t0002 a0001c0007t0004 a0001c0007t0007 a0001c0011t0003 a0001c0014t0002 a0001c0015t0002 a0001c0016t0007 a0001c0017t0003 a0001c0018t0002 a0001c0029t0002 a0002c0032t0007 a0004c0030t0004 a0006c0021t0005 a0007c0020t0005 a0008c0019t0003	a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 others(195): Show a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0190 a0001c0002t0002g0191 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0194 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0199 a0001c0002t0002g0200 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0002g0203 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0002g0209 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0213 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0228 a0001c0002t0002g0229 a0001c0002t0002g0230 a0001c0002t0002g0231 a0001c0002t0002g0232 a0001c0002t0002g0233 a0001c0002t0002g0234 a0001c0002t0002g0235 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0240 a0001c0002t0002g0241 a0001c0002t0002g0242 a0001c0002t0002g0243 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0004g0195 a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 a0001c0003t0004g0265 a0001c0003t0004g0266 a0001c0003t0004g0267 a0001c0003t0004g0268 a0001c0003t0004g0269 a0001c0003t0004g0270 a0001c0003t0004g0271 a0001c0003t0004g0272 a0001c0003t0004g0273 a0001c0003t0004g0274 a0001c0003t0004g0275 a0001c0003t0004g0276 a0001c0003t0004g0277 a0001c0003t0004g0278 a0001c0003t0004g0279 a0001c0003t0004g0280 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0004g0284 a0001c0003t0004g0286 a0001c0003t0004g0287 a0001c0003t0004g0288 a0001c0003t0004g0289 a0001c0003t0004g0290 a0001c0003t0004g0291 a0001c0003t0004g0292 a0001c0003t0004g0293 a0001c0003t0004g0294 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0298 a0001c0003t0004g0299 a0001c0003t0004g0300 a0001c0003t0004g0301 a0001c0003t0004g0302 a0001c0003t0004g0303 a0001c0003t0004g0304 a0001c0003t0018g0295 a0001c0003t0019g0283 a0001c0004t0003g0153 a0001c0004t0003g0154 a0001c0004t0003g0155 a0001c0004t0003g0157 a0001c0004t0003g0158 a0001c0004t0003g0159 a0001c0004t0003g0160 a0001c0004t0003g0162 a0001c0004t0003g0163 a0001c0004t0003g0164 a0001c0004t0003g0165 a0001c0004t0003g0166 a0001c0004t0003g0167 a0001c0004t0003g0168 a0001c0004t0003g0169 a0001c0004t0003g0171 a0001c0004t0003g0172 a0001c0004t0003g0173 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0003g0176 a0001c0004t0003g0177 a0001c0004t0003g0178 a0001c0004t0003g0179 a0001c0004t0003g0180 a0001c0004t0003g0181 a0001c0004t0003g0182 a0001c0004t0003g0183 a0001c0004t0003g0184 a0001c0004t0003g0185 a0001c0004t0003g0186 a0001c0004t0003g0189 a0001c0004t0003g0249 a0001c0004t0003g0250 a0001c0004t0003g0251 a0001c0004t0017g0161 a0001c0006t0005g0002 a0001c0006t0005g0006 a0001c0006t0005g0007 a0001c0006t0005g0008 a0001c0006t0005g0010 a0001c0006t0005g0011 a0001c0006t0005g0012 a0001c0006t0005g0013 a0001c0006t0005g0015 a0001c0006t0005g0017 a0001c0006t0005g0018 a0001c0006t0005g0019 a0001c0006t0005g0020 a0001c0006t0005g0021 a0001c0006t0005g0022 a0001c0006t0005g0023 a0001c0006t0005g0024 a0001c0006t0005g0025 a0001c0006t0005g0026 a0001c0006t0005g0027 a0001c0006t0005g0028 a0001c0006t0005g0029 a0001c0006t0005g0030 a0001c0006t0005g0031 a0001c0006t0005g0032 a0001c0006t0005g0035 a0001c0006t0013g0016 a0001c0006t0016g0149 a0001c0007t0002g0140 a0001c0007t0002g0141 a0001c0007t0002g0142 a0001c0007t0002g0143 a0001c0007t0002g0144 a0001c0007t0004g0359 a0001c0007t0004g0360 a0001c0007t0004g0361 a0001c0007t0004g0362 a0001c0007t0004g0363 a0001c0007t0004g0364 a0001c0007t0007g0254 a0001c0007t0007g0255 a0001c0007t0007g0256 a0001c0007t0007g0257 a0001c0007t0007g0258 a0001c0007t0007g0259 a0001c0007t0007g0260 a0001c0007t0007g0261 a0001c0011t0003g0187 a0001c0011t0003g0188 a0001c0014t0002g0198 a0001c0015t0002g0216 a0001c0016t0007g0252 a0001c0017t0003g0156 a0001c0018t0002g0365 a0001c0029t0002g0210 a0002c0032t0007g0253 a0004c0030t0004g0285 a0006c0021t0005g0014 a0007c0020t0005g0009 a0008c0019t0003g0170	201	370	0.5432	0	c.179 others(4): Show c.1791G>A	p.Leu others(6): Show p.Leu597Leu	ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding	15/48	2067/7762	1791/5835	597/1944			chr2	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	0	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
ANAPC4_chr4_25372263_25423498	25394379	TAAACTC TAAACTC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00741.hp1 HG01192.hp2 others(25): Show HG00099.hp1 HG00741.hp1 HG01192.hp2 HG01433.hp2 HG02080.hp2 HG02486.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG03209.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp1 HG03942.hp1 HG04184.hp2 HG06807.hp2 NA18948.hp2 NA18964.hp2 NA18974.hp2 NA18988.hp2 NA19005.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0001c0001t0001 a0001c0002t0001 a0001c0008t0001	a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0068 others(19): Show a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0243 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0002t0001g0066 a0001c0002t0001g0118 a0001c0002t0001g0173 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0253 a0001c0008t0001g0187	28	456	0.0614	-6	c.941 others(18): Show c.941+7_941+12delAACTCA		ANAPC4	ENSG00000053900.11	transcript	ENST00000315368.8	protein_coding	12/28					INFO_REALIGN_3_PRIME	chr4	TogoVar
ANAPC5_chr12_121303245_121357411	121318431	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG06807.hp1 NA19002.hp2 HG06807.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0002 a0001c0001t0001 a0001c0008t0002	a0001c0001t0001g0140 a0001c0008t0002g0235 a0001c0001t0001g0140 a0001c0008t0002g0235	2	278	0.0072	0	c.174 others(6): Show c.1746-7C>T		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding	14/16						chr12	TogoVar
ANAPC5_chr12_121303245_121357411	121330680	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	278	0.0036	0	c.103 others(6): Show c.1033-8C>G		ANAPC5	ENSG00000089053.13	transcript	ENST00000261819.8	protein_coding	8/16						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110381954	G G	GA GA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00597.hp1 HG01516.hp2 HG01884.hp2 others(9): Show HG00597.hp1 HG01516.hp2 HG01884.hp2 HG02074.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04204.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0001t0001g0154 others(9): Show a0001c0001t0001g0075 a0001c0001t0001g0107 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0232 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0002t0001g0281	12	298	0.0403	1	c.936 others(6): Show c.936-7dupT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110381954	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18947.hp2 NA18952.hp1 NA18963.hp2 NA18973.hp1 NA18993.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 a0001c0001 a0001c0003 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0003t0001 a0003c0004t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 others(117): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0005g0268 a0001c0001t0005g0269 a0001c0001t0011g0297 a0001c0001t0012g0298 a0001c0003t0001g0271 a0001c0003t0001g0273 a0001c0003t0001g0275 a0003c0004t0001g0035	120	298	0.4027	-1	c.936 others(6): Show c.936-7delT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110381954	GAA GAA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00323.hp1 HG01167.hp2 HG01175.hp1 others(20): Show HG00323.hp1 HG01167.hp2 HG01175.hp1 HG01361.hp2 HG02055.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03471.hp2 HG03490.hp2 HG03540.hp1 NA18906.hp1 NA18952.hp2 NA18994.hp1 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0002c0005t0001	a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 others(20): Show a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0008g0247 a0001c0001t0010g0293 a0002c0005t0001g0228	23	298	0.0772	-2	c.936 others(13): Show c.936-8_936-7delTT		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110381955	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00558.hp2 HG01071.hp1 HG01081.hp2 others(12): Show HG00558.hp2 HG01071.hp1 HG01081.hp2 HG01192.hp2 HG01255.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 NA18947.hp1 NA18948.hp2 NA18973.hp2 NA19010.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0106	15	298	0.0503	0	c.936 others(5): Show c.936-7T>C		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANAPC7_chr12_110367900_110408708	110381956	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00323.hp2 HG00642.hp1 others(31): Show HG00280.hp2 HG00323.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01109.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02293.hp1 HG02559.hp2 HG02683.hp2 HG02717.hp2 HG02965.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp1 HG04184.hp2 HG04204.hp1 NA19030.hp1 NA20129.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 others(31): Show a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0087 a0001c0001t0001g0104 a0003c0004t0001g0035	34	298	0.1141	0	c.936 others(5): Show c.936-8T>C		ANAPC7	ENSG00000196510.14	transcript	ENST00000455511.9	protein_coding	7/10						chr12	TogoVar
ANGEL1_chr14_76781009_76817882	76791293	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02300.hp1 HG02300.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0133 a0003c0003t0004g0133	1	396	0.0025	0	c.168 others(6): Show c.1688+4A>G		ANGEL1	ENSG00000013523.11	transcript	ENST00000251089.8	protein_coding	8/9						chr14	TogoVar
ANGPT1_chr8_107244482_107502918	107303234	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02004.hp2 HG02258.hp1 HG02559.hp2 others(14): Show HG02004.hp2 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03225.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG04199.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0002g0099 others(13): Show a0001c0001t0001g0084 a0001c0001t0001g0125 a0001c0001t0002g0099 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0183 a0001c0001t0004g0001 a0001c0001t0004g0066 a0001c0001t0004g0091 a0001c0001t0004g0152 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0221 a0001c0001t0004g0252 a0001c0001t0004g0262 a0001c0001t0004g0286	17	292	0.0582	0	c.936 others(5): Show c.936+6A>G		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	5/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107303371	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00408.hp2 HG00597.hp2 others(69): Show HG00280.hp2 HG00408.hp2 HG00597.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp2 NA18906.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18967.hp2 NA18987.hp1 NA19004.hp2 NA19030.hp1 NA19043.hp1 NA19087.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0022 a0004c0004t0003	a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0033 others(69): Show a0001c0001t0001g0010 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0213 a0001c0001t0001g0235 a0001c0001t0001g0248 a0001c0001t0001g0276 a0001c0001t0001g0290 a0001c0001t0002g0003 a0001c0001t0002g0095 a0001c0001t0002g0110 a0001c0001t0002g0139 a0001c0001t0002g0149 a0001c0001t0002g0215 a0001c0001t0002g0242 a0001c0001t0002g0255 a0001c0001t0003g0032 a0001c0001t0003g0046 a0001c0001t0003g0127 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0189 a0001c0001t0003g0200 a0001c0001t0003g0240 a0001c0001t0003g0259 a0001c0001t0003g0264 a0001c0001t0003g0287 a0001c0001t0003g0291 a0001c0001t0004g0214 a0001c0001t0004g0221 a0001c0001t0005g0067 a0001c0001t0005g0096 a0001c0001t0005g0098 a0001c0001t0005g0249 a0001c0001t0005g0266 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0108 a0001c0001t0006g0174 a0001c0001t0006g0257 a0001c0001t0006g0268 a0001c0001t0006g0269 a0001c0001t0006g0270 a0001c0001t0007g0192 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0007g0247 a0001c0001t0007g0250 a0001c0001t0008g0236 a0001c0001t0012g0103 a0001c0001t0012g0288 a0001c0001t0021g0284 a0001c0001t0022g0016 a0004c0004t0003g0050	72	292	0.2466	1	c.809 others(6): Show c.809-5dupT		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	4/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107303371	C C	CAA CAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG01167.hp1 HG01891.hp2 others(23): Show HG00738.hp1 HG01167.hp1 HG01891.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03831.hp2 NA18522.hp2 NA18990.hp2 NA19043.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0123 others(23): Show a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0123 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0285 a0001c0001t0002g0231 a0001c0001t0003g0156 a0001c0001t0004g0093 a0001c0001t0018g0251 a0001c0001t0020g0157 a0001c0001t0025g0008 a0001c0001t0026g0094	26	292	0.0890	2	c.809 others(13): Show c.809-6_809-5dupTT		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	4/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6521170	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00735.hp1 HG02258.hp1 HG02615.hp1 others(8): Show HG00735.hp1 HG02258.hp1 HG02615.hp1 HG02809.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp2 HG03540.hp1 HG03688.hp2 HG03927.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 others(3): Show a0001c0002 a0001c0003 a0001c0011 a0001c0016 a0001c0025 a0001c0034	a0001c0002t0003 a0001c0003t0040 a0001c0011t0013 others(6): Show a0001c0002t0003 a0001c0003t0040 a0001c0011t0013 a0001c0011t0017 a0001c0011t0033 a0001c0016t0028 a0001c0016t0068 a0001c0025t0028 a0001c0034t0058	a0001c0002t0003g0187 a0001c0003t0040g0230 a0001c0011t0013g0185 others(8): Show a0001c0002t0003g0187 a0001c0003t0040g0230 a0001c0011t0013g0185 a0001c0011t0017g0098 a0001c0011t0017g0126 a0001c0011t0017g0190 a0001c0011t0033g0008 a0001c0016t0028g0250 a0001c0016t0068g0248 a0001c0025t0028g0286 a0001c0034t0058g0318	11	336	0.0327	0	c.799 others(5): Show c.799+8T>C		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	4/8						chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6532326	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18978.hp1 NA18978.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0001 a0008c0024t0001	a0008c0024t0001g0076 a0008c0024t0001g0076	1	336	0.0030	0	c.444 others(5): Show c.444+6T>G		ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	2/8						chr8	TogoVar
ANGPT4_chr20_864900_921334	915902	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 NA19240.hp1 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0008 a0001c0008t0002 a0001c0002t0008 a0001c0008t0002	a0001c0002t0008g0400 a0001c0008t0002g0399 a0001c0002t0008g0400 a0001c0008t0002g0399	2	432	0.0046	0	c.309 others(5): Show c.309+4C>T		ANGPT4	ENSG00000101280.8	transcript	ENST00000381922.5	protein_coding	1/8						chr20	TogoVar
ANGPTL1_chr1_178844535_178876077	178869106	ATACTTAC others(30): Show ATACTTACGTTTAAATTTAAGTCTTTACTTAGTTGTTT	A A	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0321 a0001c0001t0023g0321	1	424	0.0024	-37	c.-56 others(46): Show c.-56_-27+7delAAACAACTAAGTAAAGACTTAAATTTAAACGTAAGT A		ANGPTL1	ENSG00000116194.13	transcript	ENST00000234816.7	protein_coding	2/6				3331		chr1	TogoVar
ANGPTL4_chr19_8359155_8379370	8366196	TC TC	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02922.hp2 HG03130.hp2 others(2): Show HG02109.hp2 HG02922.hp2 HG03130.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	5	408	0.0123	-1	c.430 others(6): Show c.430-4delC		ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ANGPTL4_chr19_8359155_8379370	8369216	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp2 HG02922.hp2 HG03130.hp2 others(2): Show HG02109.hp2 HG02922.hp2 HG03130.hp2 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	5	408	0.0123	0	c.548 others(5): Show c.548-3C>T		ANGPTL4	ENSG00000167772.12	transcript	ENST00000301455.7	protein_coding	3/6						chr19	TogoVar
ANGPTL5_chr11_101885674_101921522	101894873	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(65): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG01069.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02155.hp1 HG02683.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG04184.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18960.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp1 NA18974.hp2 NA18978.hp1 NA18982.hp1 NA18984.hp2 NA18985.hp2 NA18987.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19004.hp2 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19060.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp2 NA19085.hp2 NA19088.hp2 NA19090.hp2	a0001 a0006 a0008 others(1): Show a0001 a0006 a0008 a0010	a0001c0001 a0006c0005 a0008c0012 others(1): Show a0001c0001 a0006c0005 a0008c0012 a0010c0008	a0001c0001t0001 a0001c0001t0008 a0006c0005t0001 others(2): Show a0001c0001t0001 a0001c0001t0008 a0006c0005t0001 a0008c0012t0001 a0010c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0021 others(41): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0189 a0001c0001t0001g0208 a0001c0001t0001g0223 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0008g0057 a0006c0005t0001g0056 a0008c0012t0001g0278 a0010c0008t0001g0279	68	422	0.1611	0	c.847 others(5): Show c.847+6A>T		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding	8/8						chr11	TogoVar
ANGPTL5_chr11_101885674_101921522	101904810	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	422	0.0024	0	c.439 others(5): Show c.439+4A>T		ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding	5/8						chr11	TogoVar
ANGPTL6_chr19_10087338_10107678	10094942	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01975.hp2 HG02080.hp1 others(4): Show HG01106.hp2 HG01975.hp2 HG02080.hp1 HG02683.hp1 HG03654.hp1 HG03654.hp2 HG04204.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0179 others(1): Show a0001c0003t0001g0028 a0001c0003t0001g0040 a0001c0003t0001g0179 a0001c0003t0001g0180	7	462	0.0152	0	c.583 others(5): Show c.583-4C>T		ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	2/5						chr19	TogoVar
ANGPTL6_chr19_10087338_10107678	10095974	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	462	0.0022	0	c.582 others(5): Show c.582+8C>T		ANGPTL6	ENSG00000130812.11	transcript	ENST00000253109.5	protein_coding	2/5						chr19	TogoVar

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