Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
ABHD8_chr19_17287131_17308425	17301302	G G	T T	missense_variant missense_variant	MODERATE	NA18994.hp1 NA18994.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0223 a0004c0009t0001g0223	1	386	0.0026	c.315 others(3): Show c.315C>A	p.His others(6): Show p.His105Gln	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	2/5	507/2042	315/1320	105/439	chr19	TogoVar
ABHD8_chr19_17287131_17308425	17301409	C C	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00408.hp1 HG00423.hp1 others(60): Show HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01123.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA18945.hp1 NA18948.hp2 NA18954.hp2 NA18959.hp1 NA18973.hp2 NA18978.hp1 NA18980.hp1 NA18985.hp1 NA18986.hp2 NA18999.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0008 a0005c0007 a0002c0002 a0002c0008 a0005c0007	a0002c0002t0002 a0002c0002t0005 a0002c0008t0002 others(1): Show a0002c0002t0002 a0002c0002t0005 a0002c0008t0002 a0005c0007t0002	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0019 others(48): Show a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0019 a0002c0002t0002g0091 a0002c0002t0002g0096 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0002g0159 a0002c0002t0002g0160 a0002c0002t0002g0161 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0177 a0002c0002t0002g0178 a0002c0002t0005g0101 a0002c0002t0005g0112 a0002c0002t0005g0118 a0002c0002t0005g0156 a0002c0002t0005g0162 a0002c0002t0005g0176 a0002c0008t0002g0179 a0005c0007t0002g0098	63	386	0.1632	c.208 others(3): Show c.208G>A	p.Gly others(5): Show p.Gly70Arg	ABHD8	ENSG00000127220.6	transcript	ENST00000247706.4	protein_coding	2/5	400/2042	208/1320	70/439	chr19	TogoVar
ABI1_chr10_26741596_26865958	26759148	C C	G G	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0252 a0003c0002t0002g0252	1	358	0.0028	c.911 others(3): Show c.911G>C	p.Gly others(6): Show p.Gly304Ala	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	8/11	1006/3515	911/1446	304/481	chr10	TogoVar
ABI1_chr10_26741596_26865958	26860837	C C	A A	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0358 a0002c0003t0004g0358	1	358	0.0028	c.27G others(2): Show c.27G>T	p.Glu others(4): Show p.Glu9Asp	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	1/11	122/3515	27/1446	9/481	chr10	TogoVar
ABI3BP_chr3_100744156_100998421	100775231	C C	G G	missense_variant missense_variant	MODERATE	HG02683.hp2 HG02683.hp2	a0024 a0024	a0024c0057 a0024c0057	a0024c0057t0002 a0024c0057t0002	a0024c0057t0002g0130 a0024c0057t0002g0130	1	238	0.0042	c.443 others(4): Show c.4438G>C	p.Val others(7): Show p.Val1480Leu	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	60/68	4475/6737	4438/5361	1480/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100775246	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0026 a0026	a0026c0060 a0026c0060	a0026c0060t0023 a0026c0060t0023	a0026c0060t0023g0039 a0026c0060t0023g0039	1	238	0.0042	c.442 others(4): Show c.4423A>G	p.Ile others(7): Show p.Ile1475Val	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	60/68	4460/6737	4423/5361	1475/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100775294	A A	G G	missense_variant missense_variant	MODERATE	HG01975.hp1 HG02486.hp1 HG02970.hp1 others(2): Show HG01975.hp1 HG02486.hp1 HG02970.hp1 HG03098.hp1 NA19240.hp2	a0008 a0012 a0021 a0008 a0012 a0021	a0008c0016 a0012c0051 a0021c0034 a0008c0016 a0012c0051 a0021c0034	a0008c0016t0013 a0012c0051t0010 a0021c0034t0030 a0008c0016t0013 a0012c0051t0010 a0021c0034t0030	a0008c0016t0013g0013 a0008c0016t0013g0014 a0008c0016t0013g0152 others(2): Show a0008c0016t0013g0013 a0008c0016t0013g0014 a0008c0016t0013g0152 a0012c0051t0010g0018 a0021c0034t0030g0044	5	238	0.0210	c.437 others(4): Show c.4375T>C	p.Ser others(7): Show p.Ser1459Pro	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	60/68	4412/6737	4375/5361	1459/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100787797	T T	C C	missense_variant missense_variant	MODERATE	HG02486.hp1 NA19240.hp2 HG02486.hp1 NA19240.hp2	a0012 a0021 a0012 a0021	a0012c0051 a0021c0034 a0012c0051 a0021c0034	a0012c0051t0010 a0021c0034t0030 a0012c0051t0010 a0021c0034t0030	a0012c0051t0010g0018 a0021c0034t0030g0044 a0012c0051t0010g0018 a0021c0034t0030g0044	2	238	0.0084	c.409 others(4): Show c.4093A>G	p.Asn others(7): Show p.Asn1365Asp	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	57/68	4130/6737	4093/5361	1365/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100810463	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0026 a0026	a0026c0060 a0026c0060	a0026c0060t0023 a0026c0060t0023	a0026c0060t0023g0039 a0026c0060t0023g0039	1	238	0.0042	c.355 others(4): Show c.3556C>T	p.Pro others(7): Show p.Pro1186Ser	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	49/68	3593/6737	3556/5361	1186/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100811247	G G	T T	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0025 a0025	a0025c0031 a0025c0031	a0025c0031t0020 a0025c0031t0020	a0025c0031t0020g0045 a0025c0031t0020g0045	1	238	0.0042	c.352 others(4): Show c.3524C>A	p.Pro others(7): Show p.Pro1175Gln	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	48/68	3561/6737	3524/5361	1175/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100813663	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01891.hp2 HG02486.hp1 others(1): Show HG01884.hp1 HG01891.hp2 HG02486.hp1 NA19030.hp2	a0009 a0012 a0009 a0012	a0009c0023 a0009c0030 a0012c0051 a0009c0023 a0009c0030 a0012c0051	a0009c0023t0002 a0009c0023t0017 a0009c0030t0017 others(1): Show a0009c0023t0002 a0009c0023t0017 a0009c0030t0017 a0012c0051t0010	a0009c0023t0002g0006 a0009c0023t0017g0005 a0009c0030t0017g0153 others(1): Show a0009c0023t0002g0006 a0009c0023t0017g0005 a0009c0030t0017g0153 a0012c0051t0010g0018	4	238	0.0168	c.336 others(4): Show c.3362C>A	p.Pro others(7): Show p.Pro1121His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	45/68	3399/6737	3362/5361	1121/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100813666	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(19): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA18970.hp1 NA19081.hp1	a0004 a0006 a0023 others(3): Show a0004 a0006 a0023 a0026 a0028 a0030	a0004c0007 a0004c0015 a0004c0049 others(6): Show a0004c0007 a0004c0015 a0004c0049 a0006c0018 a0006c0025 a0023c0033 a0026c0060 a0028c0063 a0030c0052	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(10): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0006c0018t0004 a0006c0018t0039 a0006c0025t0001 a0006c0025t0035 a0023c0033t0006 a0026c0060t0023 a0028c0063t0001 a0030c0052t0001	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 others(19): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0236 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0006c0018t0004g0213 a0006c0018t0004g0223 a0006c0018t0039g0200 a0006c0025t0001g0127 a0006c0025t0035g0190 a0023c0033t0006g0181 a0026c0060t0023g0039 a0028c0063t0001g0020 a0030c0052t0001g0035	22	238	0.0924	c.335 others(4): Show c.3359A>T	p.Gln others(7): Show p.Gln1120Leu	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	45/68	3396/6737	3359/5361	1120/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100817493	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19054.hp2 NA19054.hp2	a0022 a0022	a0022c0058 a0022c0058	a0022c0058t0006 a0022c0058t0006	a0022c0058t0006g0169 a0022c0058t0006g0169	1	238	0.0042	c.309 others(4): Show c.3091G>T	p.Val others(7): Show p.Val1031Phe	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	42/68	3128/6737	3091/5361	1031/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100820246	C C	A A	missense_variant missense_variant	MODERATE	NA19240.hp2 NA19240.hp2	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0030 a0021c0034t0030	a0021c0034t0030g0044 a0021c0034t0030g0044	1	238	0.0042	c.300 others(4): Show c.3005G>T	p.Ser others(7): Show p.Ser1002Ile	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	40/68	3042/6737	3005/5361	1002/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100825833	C C	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0029 a0027c0040t0029	a0027c0040t0029g0090 a0027c0040t0029g0090	1	238	0.0042	c.261 others(4): Show c.2614G>C	p.Asp others(6): Show p.Asp872His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	35/68	2651/6737	2614/5361	872/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100829599	C C	G G	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0019 a0019	a0019c0037 a0019c0037	a0019c0037t0007 a0019c0037t0007	a0019c0037t0007g0143 a0019c0037t0007g0143	1	238	0.0042	c.252 others(4): Show c.2524G>C	p.Glu others(6): Show p.Glu842Gln	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	33/68	2561/6737	2524/5361	842/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100829640	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(18): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00642.hp1 HG01106.hp2 HG01192.hp2 HG01258.hp1 HG01346.hp2 HG01981.hp2 HG02004.hp2 HG02698.hp1 HG03669.hp1 HG03831.hp1 HG03942.hp2 HG04228.hp1 NA18947.hp1 NA18948.hp1 NA18962.hp2 NA18967.hp2 NA19081.hp1	a0004 a0006 a0026 others(2): Show a0004 a0006 a0026 a0028 a0030	a0004c0007 a0004c0015 a0004c0049 others(5): Show a0004c0007 a0004c0015 a0004c0049 a0006c0018 a0006c0025 a0026c0060 a0028c0063 a0030c0052	a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 others(9): Show a0004c0007t0001 a0004c0007t0004 a0004c0007t0038 a0004c0015t0001 a0004c0049t0001 a0006c0018t0004 a0006c0018t0039 a0006c0025t0001 a0006c0025t0035 a0026c0060t0023 a0028c0063t0001 a0030c0052t0001	a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 others(18): Show a0004c0007t0001g0073 a0004c0007t0001g0089 a0004c0007t0001g0094 a0004c0007t0001g0108 a0004c0007t0001g0113 a0004c0007t0004g0182 a0004c0007t0004g0238 a0004c0007t0038g0236 a0004c0015t0001g0037 a0004c0015t0001g0043 a0004c0015t0001g0123 a0004c0015t0001g0126 a0004c0049t0001g0120 a0006c0018t0004g0213 a0006c0018t0004g0223 a0006c0018t0039g0200 a0006c0025t0001g0127 a0006c0025t0035g0190 a0026c0060t0023g0039 a0028c0063t0001g0020 a0030c0052t0001g0035	21	238	0.0882	c.248 others(4): Show c.2483A>G	p.His others(6): Show p.His828Arg	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	33/68	2520/6737	2483/5361	828/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100832321	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02615.hp1	a0018 a0018	a0018c0038 a0018c0038	a0018c0038t0012 a0018c0038t0012	a0018c0038t0012g0158 a0018c0038t0012g0158	1	238	0.0042	c.234 others(4): Show c.2344C>T	p.Arg others(6): Show p.Arg782Cys	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	31/68	2381/6737	2344/5361	782/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100834710	C C	T T	missense_variant missense_variant	MODERATE	HG02698.hp2 HG02698.hp2	a0020 a0020	a0020c0055 a0020c0055	a0020c0055t0005 a0020c0055t0005	a0020c0055t0005g0036 a0020c0055t0005g0036	1	238	0.0042	c.225 others(4): Show c.2255G>A	p.Arg others(6): Show p.Arg752His	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	29/68	2292/6737	2255/5361	752/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100838461	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0002 a0029c0053t0002	a0029c0053t0002g0011 a0029c0053t0002g0011	1	238	0.0042	c.194 others(4): Show c.1949C>T	p.Ser others(6): Show p.Ser650Leu	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	25/68	1986/6737	1949/5361	650/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100839572	T T	C C	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00323.hp1 HG00438.hp1 others(63): Show HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00741.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01978.hp1 HG01993.hp1 HG02027.hp2 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18947.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp2 NA18970.hp2 NA18977.hp1 NA19007.hp2 NA19043.hp2 NA19062.hp1 NA19081.hp2 NA19082.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA20905.hp1	a0002 a0006 a0011 others(5): Show a0002 a0006 a0011 a0012 a0017 a0018 a0019 a0030	a0002c0002 a0002c0006 a0002c0008 others(12): Show a0002c0002 a0002c0006 a0002c0008 a0002c0010 a0002c0012 a0002c0019 a0002c0045 a0006c0018 a0006c0025 a0011c0021 a0012c0051 a0017c0036 a0018c0038 a0019c0037 a0030c0052	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(29): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0002t0011 a0002c0002t0014 a0002c0002t0027 a0002c0006t0001 a0002c0006t0004 a0002c0008t0001 a0002c0008t0004 a0002c0008t0019 a0002c0008t0032 a0002c0010t0002 a0002c0012t0001 a0002c0012t0011 a0002c0019t0002 a0002c0019t0005 a0002c0045t0003 a0006c0018t0004 a0006c0018t0039 a0006c0025t0001 a0006c0025t0035 a0011c0021t0005 a0012c0051t0010 a0017c0036t0009 a0018c0038t0012 a0019c0037t0007 a0030c0052t0001	a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0064 others(63): Show a0002c0002t0002g0053 a0002c0002t0002g0061 a0002c0002t0002g0064 a0002c0002t0002g0087 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0109 a0002c0002t0003g0050 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0079 a0002c0002t0003g0141 a0002c0002t0003g0156 a0002c0002t0005g0057 a0002c0002t0005g0074 a0002c0002t0005g0110 a0002c0002t0006g0183 a0002c0002t0007g0155 a0002c0002t0008g0197 a0002c0002t0008g0228 a0002c0002t0010g0142 a0002c0002t0011g0176 a0002c0002t0014g0178 a0002c0002t0027g0055 a0002c0006t0001g0003 a0002c0006t0001g0081 a0002c0006t0001g0100 a0002c0006t0001g0103 a0002c0006t0001g0163 a0002c0006t0004g0209 a0002c0006t0004g0230 a0002c0006t0004g0231 a0002c0006t0004g0235 a0002c0008t0001g0056 a0002c0008t0001g0059 a0002c0008t0001g0071 a0002c0008t0001g0095 a0002c0008t0001g0098 a0002c0008t0004g0207 a0002c0008t0019g0144 a0002c0008t0032g0060 a0002c0010t0002g0067 a0002c0010t0002g0101 a0002c0010t0002g0102 a0002c0010t0002g0107 a0002c0010t0002g0165 a0002c0012t0001g0001 a0002c0012t0001g0135 a0002c0012t0001g0159 a0002c0012t0011g0202 a0002c0019t0002g0131 a0002c0019t0005g0032 a0002c0019t0005g0129 a0002c0045t0003g0146 a0006c0018t0004g0213 a0006c0018t0004g0223 a0006c0018t0039g0200 a0006c0025t0001g0127 a0006c0025t0035g0190 a0011c0021t0005g0115 a0011c0021t0005g0117 a0012c0051t0010g0018 a0017c0036t0009g0189 a0018c0038t0012g0158 a0019c0037t0007g0143 a0030c0052t0001g0035	66	238	0.2773	c.194 others(4): Show c.1942A>G	p.Thr others(6): Show p.Thr648Ala	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	24/68	1979/6737	1942/5361	648/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100842016	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00408.hp1 HG00733.hp1 others(30): Show HG00099.hp1 HG00408.hp1 HG00733.hp1 HG01106.hp2 HG01123.hp1 HG01496.hp1 HG01981.hp1 HG02027.hp1 HG02258.hp1 HG02486.hp2 HG02622.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp2 HG03130.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18990.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp2 NA19063.hp1 NA19066.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1	a0003 a0010 a0027 others(1): Show a0003 a0010 a0027 a0028	a0003c0003 a0003c0020 a0003c0026 others(8): Show a0003c0003 a0003c0020 a0003c0026 a0003c0027 a0003c0041 a0003c0050 a0003c0062 a0010c0039 a0010c0061 a0027c0040 a0028c0063	a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 others(12): Show a0003c0003t0003 a0003c0003t0005 a0003c0003t0006 a0003c0003t0007 a0003c0003t0015 a0003c0020t0004 a0003c0026t0001 a0003c0027t0002 a0003c0041t0011 a0003c0050t0002 a0003c0062t0011 a0010c0039t0012 a0010c0061t0016 a0027c0040t0029 a0028c0063t0001	a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0003g0049 others(30): Show a0003c0003t0003g0046 a0003c0003t0003g0048 a0003c0003t0003g0049 a0003c0003t0003g0051 a0003c0003t0003g0063 a0003c0003t0003g0065 a0003c0003t0003g0088 a0003c0003t0003g0092 a0003c0003t0003g0145 a0003c0003t0003g0162 a0003c0003t0005g0099 a0003c0003t0006g0168 a0003c0003t0006g0187 a0003c0003t0006g0210 a0003c0003t0006g0214 a0003c0003t0006g0217 a0003c0003t0006g0222 a0003c0003t0006g0237 a0003c0003t0007g0150 a0003c0003t0015g0220 a0003c0020t0004g0179 a0003c0020t0004g0212 a0003c0026t0001g0026 a0003c0026t0001g0128 a0003c0027t0002g0009 a0003c0027t0002g0022 a0003c0041t0011g0180 a0003c0050t0002g0121 a0003c0062t0011g0225 a0010c0039t0012g0151 a0010c0061t0016g0226 a0027c0040t0029g0090 a0028c0063t0001g0020	33	238	0.1387	c.174 others(4): Show c.1747C>T	p.Pro others(6): Show p.Pro583Ser	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	21/68	1784/6737	1747/5361	583/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100846434	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02280.hp2 HG02615.hp2 others(3): Show HG02055.hp1 HG02280.hp2 HG02615.hp2 HG02818.hp2 HG02965.hp2 HG03471.hp2	a0005 a0005	a0005c0011 a0005c0042 a0005c0011 a0005c0042	a0005c0011t0007 a0005c0011t0012 a0005c0011t0022 others(2): Show a0005c0011t0007 a0005c0011t0012 a0005c0011t0022 a0005c0011t0026 a0005c0042t0011	a0005c0011t0007g0157 a0005c0011t0012g0139 a0005c0011t0022g0171 others(3): Show a0005c0011t0007g0157 a0005c0011t0012g0139 a0005c0011t0022g0171 a0005c0011t0022g0173 a0005c0011t0026g0138 a0005c0042t0011g0172	6	238	0.0252	c.166 others(4): Show c.1661C>T	p.Thr others(6): Show p.Thr554Ile	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	20/68	1698/6737	1661/5361	554/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100847637	A A	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02622.hp2	a0029 a0029	a0029c0053 a0029c0053	a0029c0053t0002 a0029c0053t0002	a0029c0053t0002g0011 a0029c0053t0002g0011	1	238	0.0042	c.161 others(4): Show c.1613T>C	p.Ile others(6): Show p.Ile538Thr	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	19/68	1650/6737	1613/5361	538/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100850053	G G	A A	missense_variant missense_variant	MODERATE	HG03139.hp2 HG03139.hp2	a0016 a0016	a0016c0043 a0016c0043	a0016c0043t0004 a0016c0043t0004	a0016c0043t0004g0205 a0016c0043t0004g0205	1	238	0.0042	c.149 others(4): Show c.1493C>T	p.Thr others(6): Show p.Thr498Met	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	17/68	1530/6737	1493/5361	498/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100862380	T T	C C	missense_variant missense_variant	MODERATE	HG02280.hp1 HG02280.hp1	a0015 a0015	a0015c0044 a0015c0044	a0015c0044t0036 a0015c0044t0036	a0015c0044t0036g0174 a0015c0044t0036g0174	1	238	0.0042	c.121 others(4): Show c.1216A>G	p.Ser others(6): Show p.Ser406Gly	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	14/68	1253/6737	1216/5361	406/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100866946	T T	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG01952.hp1 HG00735.hp2 HG01952.hp1	a0013 a0014 a0013 a0014	a0013c0046 a0014c0047 a0013c0046 a0014c0047	a0013c0046t0007 a0014c0047t0010 a0013c0046t0007 a0014c0047t0010	a0013c0046t0007g0154 a0014c0047t0010g0133 a0013c0046t0007g0154 a0014c0047t0010g0133	2	238	0.0084	c.921 others(3): Show c.921A>T	p.Glu others(6): Show p.Glu307Asp	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	10/68	958/6737	921/5361	307/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100866948	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01361.hp1 HG01515.hp2 HG01192.hp2 HG01361.hp1 HG01515.hp2	a0011 a0030 a0011 a0030	a0011c0021 a0030c0052 a0011c0021 a0030c0052	a0011c0021t0005 a0030c0052t0001 a0011c0021t0005 a0030c0052t0001	a0011c0021t0005g0115 a0011c0021t0005g0117 a0030c0052t0001g0035 a0011c0021t0005g0115 a0011c0021t0005g0117 a0030c0052t0001g0035	3	238	0.0126	c.919 others(3): Show c.919G>A	p.Glu others(6): Show p.Glu307Lys	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	10/68	956/6737	919/5361	307/1786	chr3	TogoVar
ABI3BP_chr3_100744156_100998421	100886236	G G	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0012 a0012	a0012c0051 a0012c0051	a0012c0051t0010 a0012c0051t0010	a0012c0051t0010g0018 a0012c0051t0010g0018	1	238	0.0042	c.549 others(3): Show c.549C>A	p.Asn others(6): Show p.Asn183Lys	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	5/68	586/6737	549/5361	183/1786	chr3	TogoVar
ABI3_chr17_49205707_49228225	49216544	G G	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00738.hp1 HG01070.hp2 others(38): Show HG00280.hp2 HG00738.hp1 HG01070.hp2 HG01192.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp2 HG02015.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02735.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18947.hp1 NA18951.hp2 NA18959.hp1 NA18962.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp2 NA18974.hp2 NA18978.hp1 NA19007.hp2 NA19070.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0017 others(10): Show a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0095 a0002c0002t0001g0106	41	448	0.0915	c.131 others(3): Show c.131G>A	p.Arg others(5): Show p.Arg44Gln	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	2/8	149/1629	131/1101	44/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49216637	T T	C C	missense_variant missense_variant	MODERATE	NA19010.hp2 NA19010.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0001 a0008c0006t0001g0001	1	448	0.0022	c.224 others(3): Show c.224T>C	p.Met others(5): Show p.Met75Thr	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	2/8	242/1629	224/1101	75/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49217796	G G	C C	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0007 a0003c0007t0001g0007	1	448	0.0022	c.343 others(3): Show c.343G>C	p.Val others(6): Show p.Val115Leu	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	3/8	361/1629	343/1101	115/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49217803	G G	A A	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0102 a0004c0008t0001g0102	1	448	0.0022	c.350 others(3): Show c.350G>A	p.Arg others(6): Show p.Arg117Gln	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	3/8	368/1629	350/1101	117/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49219908	G G	A A	missense_variant missense_variant	MODERATE	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0005 a0005c0009t0001g0005	1	448	0.0022	c.599 others(3): Show c.599G>A	p.Gly others(6): Show p.Gly200Asp	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	5/8	617/1629	599/1101	200/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49219935	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(444): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 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.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.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.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.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 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0013 a0002c0002 a0003c0007 a0004c0008 a0005c0009 a0007c0010 a0008c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0012t0001 a0001c0013t0001 a0002c0002t0001 a0003c0007t0001 a0004c0008t0001 a0005c0009t0001 a0007c0010t0001 a0008c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(174): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0071 a0001c0001t0003g0060 a0001c0001t0004g0033 a0001c0003t0001g0003 a0001c0003t0001g0010 a0001c0003t0001g0015 a0001c0003t0001g0043 a0001c0003t0001g0047 a0001c0003t0001g0123 a0001c0003t0001g0125 a0001c0003t0001g0126 a0001c0003t0001g0127 a0001c0004t0001g0025 a0001c0004t0001g0063 a0001c0004t0001g0065 a0001c0005t0001g0002 a0001c0012t0001g0161 a0001c0013t0001g0043 a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0061 a0002c0002t0001g0069 a0002c0002t0001g0095 a0002c0002t0001g0106 a0003c0007t0001g0007 a0004c0008t0001g0102 a0005c0009t0001g0005 a0007c0010t0001g0070 a0008c0006t0001g0001	447	448	0.9978	c.626 others(3): Show c.626T>C	p.Phe others(6): Show p.Phe209Ser	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	5/8	644/1629	626/1101	209/366	chr17	TogoVar
ABI3_chr17_49205707_49228225	49222147	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0070 a0007c0010t0001g0070	1	448	0.0022	c.859 others(3): Show c.859G>A	p.Glu others(6): Show p.Glu287Lys	ABI3	ENSG00000108798.9	transcript	ENST00000225941.6	protein_coding	7/8	877/1629	859/1101	287/366	chr17	TogoVar
ABITRAM_chr9_108929400_108945954	108934515	C C	T T	missense_variant missense_variant	MODERATE	HG01433.hp2 HG01496.hp1 HG01515.hp2 others(4): Show HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG03041.hp1 HG04115.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0005g0013 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0005g0013	7	458	0.0153	c.29C others(2): Show c.29C>T	p.Pro others(5): Show p.Pro10Leu	ABITRAM	ENSG00000119328.12	transcript	ENST00000322940.11	protein_coding	1/6	116/1901	29/546	10/181	chr9	TogoVar
ABITRAM_chr9_108929400_108945954	108934551	G G	T T	missense_variant missense_variant	MODERATE	NA19012.hp1 NA19012.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0007 a0003c0004t0001g0007	1	458	0.0022	c.65G others(2): Show c.65G>T	p.Arg others(5): Show p.Arg22Leu	ABITRAM	ENSG00000119328.12	transcript	ENST00000322940.11	protein_coding	1/6	152/1901	65/546	22/181	chr9	TogoVar
ABL1_chr9_130830254_130892675	130854112	G G	A A	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01943.hp2 HG01361.hp2 HG01943.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0006 a0003c0012t0006	a0003c0012t0006g0014 a0003c0012t0006g0215 a0003c0012t0006g0014 a0003c0012t0006g0215	2	278	0.0072	c.128 others(3): Show c.128G>A	p.Ser others(5): Show p.Ser43Asn	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	2/11	321/5578	128/3393	43/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130878562	G G	A A	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0009 a0004c0014t0009	a0004c0014t0009g0037 a0004c0014t0009g0037	1	278	0.0036	c.141 others(4): Show c.1418G>A	p.Arg others(6): Show p.Arg473Gln	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	8/11	1611/5578	1418/3393	473/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884323	G G	A A	missense_variant missense_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0157 a0005c0016t0001g0157	1	278	0.0036	c.203 others(4): Show c.2033G>A	p.Gly others(6): Show p.Gly678Asp	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2226/5578	2033/3393	678/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884325	T T	G G	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01109.hp2	a0006 a0006	a0006c0017 a0006c0017	a0006c0017t0001 a0006c0017t0001	a0006c0017t0001g0111 a0006c0017t0001g0111	1	278	0.0036	c.203 others(4): Show c.2035T>G	p.Ser others(6): Show p.Ser679Ala	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2228/5578	2035/3393	679/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884388	A A	G G	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0005 a0007c0015t0005	a0007c0015t0005g0201 a0007c0015t0005g0201	1	278	0.0036	c.209 others(4): Show c.2098A>G	p.Thr others(6): Show p.Thr700Ala	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2291/5578	2098/3393	700/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130884719	C C	T T	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01123.hp1	a0008 a0008	a0008c0022 a0008c0022	a0008c0022t0001 a0008c0022t0001	a0008c0022t0001g0011 a0008c0022t0001g0011	1	278	0.0036	c.242 others(4): Show c.2429C>T	p.Pro others(6): Show p.Pro810Leu	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	2622/5578	2429/3393	810/1130	chr9	TogoVar
ABL1_chr9_130830254_130892675	130885205	C C	T T	missense_variant missense_variant	MODERATE	HG00639.hp1 HG01123.hp2 HG01361.hp2 others(5): Show HG00639.hp1 HG01123.hp2 HG01361.hp2 HG01433.hp2 HG01943.hp2 HG02615.hp1 HG03540.hp2 NA20300.hp1	a0002 a0003 a0002 a0003	a0002c0005 a0003c0012 a0002c0005 a0003c0012	a0002c0005t0005 a0002c0005t0006 a0003c0012t0006 a0002c0005t0005 a0002c0005t0006 a0003c0012t0006	a0002c0005t0005g0191 a0002c0005t0006g0014 a0002c0005t0006g0214 others(5): Show a0002c0005t0005g0191 a0002c0005t0006g0014 a0002c0005t0006g0214 a0002c0005t0006g0216 a0002c0005t0006g0217 a0002c0005t0006g0245 a0003c0012t0006g0014 a0003c0012t0006g0215	8	278	0.0288	c.291 others(4): Show c.2915C>T	p.Ser others(6): Show p.Ser972Leu	ABL1	ENSG00000097007.20	transcript	ENST00000318560.6	protein_coding	11/11	3108/5578	2915/3393	972/1130	chr9	TogoVar
ABL2_chr1_179094330_179234677	179107777	G G	C C	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0005 a0008c0012t0005	a0008c0012t0005g0323 a0008c0012t0005g0323	1	350	0.0029	c.349 others(4): Show c.3490C>G	p.Pro others(7): Show p.Pro1164Ala	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3770/12217	3490/3549	1164/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179107974	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp1 HG02109.hp2 others(1): Show HG01070.hp1 HG01071.hp1 HG02109.hp2 HG02559.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0022 a0002c0005t0022	a0002c0005t0022g0253 a0002c0005t0022g0275 a0002c0005t0022g0276 others(1): Show a0002c0005t0022g0253 a0002c0005t0022g0275 a0002c0005t0022g0276 a0002c0005t0022g0277	4	350	0.0114	c.329 others(4): Show c.3293G>A	p.Ser others(7): Show p.Ser1098Asn	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3573/12217	3293/3549	1098/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179108280	G G	C C	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18985.hp2 NA18993.hp1 others(1): Show NA18952.hp1 NA18985.hp2 NA18993.hp1 NA19074.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0151 a0003c0006t0001g0187 a0003c0006t0001g0205 others(1): Show a0003c0006t0001g0151 a0003c0006t0001g0187 a0003c0006t0001g0205 a0003c0006t0001g0209	4	350	0.0114	c.298 others(4): Show c.2987C>G	p.Pro others(6): Show p.Pro996Arg	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3267/12217	2987/3549	996/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179108431	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0092 a0007c0015t0092	a0007c0015t0092g0313 a0007c0015t0092g0313	1	350	0.0029	c.283 others(4): Show c.2836G>A	p.Val others(6): Show p.Val946Met	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3116/12217	2836/3549	946/1182	chr1	TogoVar
ABL2_chr1_179094330_179234677	179108478	T T	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0002 a0009c0014t0002	a0009c0014t0002g0227 a0009c0014t0002g0227	1	350	0.0029	c.278 others(4): Show c.2789A>G	p.Lys others(6): Show p.Lys930Arg	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	12/12	3069/12217	2789/3549	930/1182	chr1	TogoVar

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