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
ABCA2_chr9_137002234_137033237	137010725	C C	T T	synonymous_variant synonymous_variant	LOW	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0131 a0001c0037t0001g0131	1	320	0.0031	c.606 others(4): Show c.6069G>A	p.Val others(7): Show p.Val2023Val	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	40/49	6166/8103	6069/7311	2023/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011080	C C	A A	synonymous_variant synonymous_variant	LOW	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0002 a0001c0036t0002	a0001c0036t0002g0049 a0001c0036t0002g0049	1	320	0.0031	c.594 others(4): Show c.5949G>T	p.Pro others(7): Show p.Pro1983Pro	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	39/49	6046/8103	5949/7311	1983/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011301	C C	T T	synonymous_variant synonymous_variant	LOW	NA18945.hp2 NA19010.hp2 NA18945.hp2 NA19010.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0040 a0001c0019t0001g0040	2	320	0.0063	c.580 others(4): Show c.5808G>A	p.Lys others(7): Show p.Lys1936Lys	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	38/49	5905/8103	5808/7311	1936/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011452	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0164 a0001c0040t0001g0164	1	320	0.0031	c.575 others(4): Show c.5754C>T	p.Thr others(7): Show p.Thr1918Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	37/49	5851/8103	5754/7311	1918/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011862	C C	T T	synonymous_variant synonymous_variant	LOW	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0002 a0001c0054t0002	a0001c0054t0002g0154 a0001c0054t0002g0154	1	320	0.0031	c.551 others(4): Show c.5517G>A	p.Ala others(7): Show p.Ala1839Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	35/49	5614/8103	5517/7311	1839/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011907	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00408.hp1 others(206): Show HG00099.hp2 HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0003 a0001c0008 others(31): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0027 a0001c0028 a0001c0033 a0001c0037 a0001c0039 a0001c0040 a0001c0046 a0001c0050 a0001c0053 a0002c0004 a0003c0021 a0003c0024 a0004c0010 a0007c0043 a0008c0042 a0009c0032 a0010c0038 a0011c0034 a0012c0044 a0013c0047 a0014c0030 a0015c0029 a0016c0052 a0017c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0008t0001 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0037t0001 a0001c0039t0002 a0001c0040t0001 a0001c0046t0001 a0001c0050t0001 a0001c0053t0001 a0002c0004t0001 a0003c0021t0001 a0003c0024t0001 a0004c0010t0001 a0007c0043t0001 a0008c0042t0001 a0009c0032t0001 a0010c0038t0001 a0011c0034t0001 a0012c0044t0001 a0013c0047t0001 a0014c0030t0001 a0015c0029t0001 a0016c0052t0001 a0017c0057t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(130): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0004g0032 a0001c0001t0006g0092 a0001c0003t0001g0015 a0001c0003t0001g0041 a0001c0003t0001g0051 a0001c0003t0001g0054 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0169 a0001c0008t0001g0012 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0011t0001g0014 a0001c0012t0001g0016 a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0017t0001g0108 a0001c0017t0001g0119 a0001c0018t0001g0034 a0001c0019t0001g0040 a0001c0027t0001g0083 a0001c0028t0001g0084 a0001c0033t0001g0149 a0001c0037t0001g0131 a0001c0039t0002g0109 a0001c0040t0001g0164 a0001c0046t0001g0071 a0001c0050t0001g0115 a0001c0053t0001g0056 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0003c0021t0001g0079 a0003c0021t0001g0140 a0003c0024t0001g0053 a0003c0024t0001g0057 a0004c0010t0001g0024 a0004c0010t0001g0082 a0007c0043t0001g0141 a0008c0042t0001g0165 a0009c0032t0001g0193 a0010c0038t0001g0133 a0011c0034t0001g0124 a0012c0044t0001g0099 a0013c0047t0001g0166 a0014c0030t0001g0068 a0015c0029t0001g0145 a0016c0052t0001g0168 a0017c0057t0001g0196	209	320	0.6531	c.547 others(4): Show c.5472C>T	p.His others(7): Show p.His1824His	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	35/49	5569/8103	5472/7311	1824/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011949	G G	A A	synonymous_variant synonymous_variant	LOW	HG01884.hp2 HG01891.hp1 HG02280.hp1 others(5): Show HG01884.hp2 HG01891.hp1 HG02280.hp1 HG02572.hp1 HG02723.hp1 HG03453.hp2 HG03540.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0020 a0001c0006 a0001c0020	a0001c0006t0003 a0001c0020t0003 a0001c0006t0003 a0001c0020t0003	a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 others(4): Show a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0178 a0001c0020t0003g0045	8	320	0.0250	c.543 others(4): Show c.5430C>T	p.Phe others(7): Show p.Phe1810Phe	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	35/49	5527/8103	5430/7311	1810/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137011964	G G	A A	synonymous_variant synonymous_variant	LOW	HG02559.hp1 HG03139.hp2 HG02559.hp1 HG03139.hp2	a0001 a0001	a0001c0041 a0001c0055 a0001c0041 a0001c0055	a0001c0041t0005 a0001c0055t0005 a0001c0041t0005 a0001c0055t0005	a0001c0041t0005g0139 a0001c0055t0005g0161 a0001c0041t0005g0139 a0001c0055t0005g0161	2	320	0.0063	c.541 others(4): Show c.5415C>T	p.Phe others(7): Show p.Phe1805Phe	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	35/49	5512/8103	5415/7311	1805/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137012777	G G	A A	synonymous_variant synonymous_variant	LOW	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0005 a0001c0041t0005	a0001c0041t0005g0139 a0001c0041t0005g0139	1	320	0.0031	c.501 others(4): Show c.5016C>T	p.Thr others(7): Show p.Thr1672Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	31/49	5113/8103	5016/7311	1672/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137013177	C C	T T	synonymous_variant synonymous_variant	LOW	HG02602.hp2 HG04228.hp1 HG02602.hp2 HG04228.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0034 a0001c0018t0001g0034	2	320	0.0063	c.469 others(4): Show c.4692G>A	p.Ser others(7): Show p.Ser1564Ser	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	30/49	4789/8103	4692/7311	1564/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137013983	G G	A A	synonymous_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0002 a0005c0031t0002	a0005c0031t0002g0117 a0005c0031t0002g0117	1	320	0.0031	c.429 others(4): Show c.4296C>T	p.Gly others(7): Show p.Gly1432Gly	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	28/49	4393/8103	4296/7311	1432/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014190	G G	A A	synonymous_variant synonymous_variant	LOW	HG02004.hp2 HG02148.hp2 HG02004.hp2 HG02148.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0002 a0001c0022t0002	a0001c0022t0002g0026 a0001c0022t0002g0026	2	320	0.0063	c.421 others(4): Show c.4218C>T	p.Asp others(7): Show p.Asp1406Asp	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	27/49	4315/8103	4218/7311	1406/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014754	C C	T T	synonymous_variant synonymous_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0149 a0001c0033t0001g0149	1	320	0.0031	c.393 others(4): Show c.3939G>A	p.Thr others(7): Show p.Thr1313Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	26/49	4036/8103	3939/7311	1313/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014976	C C	T T	synonymous_variant synonymous_variant	LOW	NA18940.hp2 NA18985.hp1 NA18940.hp2 NA18985.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0108 a0001c0017t0001g0119 a0001c0017t0001g0108 a0001c0017t0001g0119	2	320	0.0063	c.381 others(4): Show c.3819G>A	p.Thr others(7): Show p.Thr1273Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	25/49	3916/8103	3819/7311	1273/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137015559	C C	T T	synonymous_variant synonymous_variant	LOW	HG02809.hp2 HG03130.hp2 HG02809.hp2 HG03130.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0016t0001g0176 a0001c0016t0001g0177	2	320	0.0063	c.355 others(4): Show c.3552G>A	p.Glu others(7): Show p.Glu1184Glu	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	24/49	3649/8103	3552/7311	1184/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137015715	C C	T T	synonymous_variant synonymous_variant	LOW	HG02080.hp1 HG02080.hp1	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0001 a0009c0032t0001	a0009c0032t0001g0193 a0009c0032t0001g0193	1	320	0.0031	c.347 others(4): Show c.3474G>A	p.Ala others(7): Show p.Ala1158Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	23/49	3571/8103	3474/7311	1158/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137016111	G G	A A	synonymous_variant synonymous_variant	LOW	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0002 a0005c0031t0002	a0005c0031t0002g0117 a0005c0031t0002g0117	1	320	0.0031	c.316 others(4): Show c.3168C>T	p.Ile others(7): Show p.Ile1056Ile	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	22/49	3265/8103	3168/7311	1056/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137016320	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02717.hp1 HG02886.hp1 others(2): Show HG02109.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0015 a0001c0025 a0001c0015 a0001c0025	a0001c0015t0003 a0001c0025t0002 a0001c0015t0003 a0001c0025t0002	a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 others(1): Show a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0025t0002g0020	5	320	0.0156	c.307 others(4): Show c.3075C>T	p.Gly others(7): Show p.Gly1025Gly	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	21/49	3172/8103	3075/7311	1025/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017011	G G	A A	synonymous_variant synonymous_variant	LOW	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0071 a0001c0046t0001g0071	1	320	0.0031	c.266 others(4): Show c.2667C>T	p.Asp others(6): Show p.Asp889Asp	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	19/49	2764/8103	2667/7311	889/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017023	C C	T T	synonymous_variant synonymous_variant	LOW	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0053 a0001c0053	a0001c0053t0001 a0001c0053t0001	a0001c0053t0001g0056 a0001c0053t0001g0056	1	320	0.0031	c.265 others(4): Show c.2655G>A	p.Pro others(6): Show p.Pro885Pro	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	19/49	2752/8103	2655/7311	885/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017298	G G	A A	synonymous_variant synonymous_variant	LOW	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0002 a0001c0048t0002	a0001c0048t0002g0102 a0001c0048t0002g0102	1	320	0.0031	c.245 others(4): Show c.2451C>T	p.Cys others(6): Show p.Cys817Cys	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	18/49	2548/8103	2451/7311	817/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017531	T T	G G	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG00741.hp2 HG01099.hp2 others(35): Show HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp1 NA18953.hp2 NA18961.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0009 a0001c0014 others(12): Show a0001c0006 a0001c0009 a0001c0014 a0001c0015 a0001c0023 a0001c0025 a0001c0049 a0001c0050 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0002c0004 a0002c0026 a0003c0024	a0001c0006t0003 a0001c0009t0001 a0001c0014t0003 others(14): Show a0001c0006t0003 a0001c0009t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0003 a0001c0023t0003 a0001c0023t0005 a0001c0025t0002 a0001c0049t0005 a0001c0050t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0005 a0001c0056t0001 a0002c0004t0001 a0002c0026t0001 a0003c0024t0001	a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 others(29): Show a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0178 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0014t0003g0155 a0001c0014t0003g0162 a0001c0014t0004g0158 a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0023t0003g0157 a0001c0023t0005g0156 a0001c0025t0002g0020 a0001c0049t0005g0148 a0001c0050t0001g0115 a0001c0053t0001g0056 a0001c0054t0002g0154 a0001c0055t0005g0161 a0001c0056t0001g0186 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0026t0001g0073 a0003c0024t0001g0053 a0003c0024t0001g0057	38	320	0.1188	c.237 others(4): Show c.2373A>C	p.Ala others(6): Show p.Ala791Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	17/49	2470/8103	2373/7311	791/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017546	G G	A A	synonymous_variant synonymous_variant	LOW	NA18951.hp2 NA19066.hp1 NA19070.hp2 NA18951.hp2 NA19066.hp1 NA19070.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0016 a0001c0012t0001g0016	3	320	0.0094	c.235 others(4): Show c.2358C>T	p.Ile others(6): Show p.Ile786Ile	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	17/49	2455/8103	2358/7311	786/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137018032	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.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 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.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 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.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 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.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 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.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 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(52): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0022 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0033 a0001c0035 a0001c0036 a0001c0037 a0001c0039 a0001c0040 a0001c0041 a0001c0046 a0001c0048 a0001c0049 a0001c0050 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0002c0004 a0002c0026 a0003c0021 a0003c0024 a0004c0010 a0005c0031 a0006c0045 a0007c0043 a0008c0042 a0009c0032 a0010c0038 a0011c0034 a0012c0044 a0013c0047 a0014c0030 a0015c0029 a0016c0052 a0017c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(61): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0001 a0001c0005t0002 a0001c0006t0003 a0001c0007t0001 a0001c0007t0004 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0003 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0003 a0001c0022t0002 a0001c0023t0003 a0001c0023t0005 a0001c0025t0002 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0035t0001 a0001c0036t0002 a0001c0037t0001 a0001c0039t0002 a0001c0040t0001 a0001c0041t0005 a0001c0046t0001 a0001c0048t0002 a0001c0049t0005 a0001c0050t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0005 a0001c0056t0001 a0001c0058t0003 a0002c0004t0001 a0002c0026t0001 a0003c0021t0001 a0003c0024t0001 a0004c0010t0001 a0005c0031t0002 a0006c0045t0002 a0007c0043t0001 a0008c0042t0001 a0009c0032t0001 a0010c0038t0001 a0011c0034t0001 a0012c0044t0001 a0013c0047t0001 a0014c0030t0001 a0015c0029t0001 a0016c0052t0001 a0017c0057t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(194): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0004g0032 a0001c0001t0006g0092 a0001c0002t0001g0138 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0013 a0001c0002t0002g0021 a0001c0002t0002g0033 a0001c0002t0002g0046 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0087 a0001c0002t0002g0088 a0001c0002t0002g0089 a0001c0002t0002g0093 a0001c0002t0002g0094 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0111 a0001c0002t0002g0114 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0137 a0001c0002t0002g0170 a0001c0002t0002g0179 a0001c0002t0003g0043 a0001c0002t0003g0123 a0001c0002t0007g0097 a0001c0003t0001g0015 a0001c0003t0001g0041 a0001c0003t0001g0051 a0001c0003t0001g0054 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0169 a0001c0005t0002g0006 a0001c0005t0002g0069 a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0178 a0001c0007t0001g0036 a0001c0007t0001g0096 a0001c0007t0001g0122 a0001c0007t0004g0050 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0011t0001g0014 a0001c0012t0001g0016 a0001c0014t0003g0155 a0001c0014t0003g0162 a0001c0014t0004g0158 a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0017t0001g0108 a0001c0017t0001g0119 a0001c0018t0001g0034 a0001c0019t0001g0040 a0001c0020t0003g0045 a0001c0022t0002g0026 a0001c0023t0003g0157 a0001c0023t0005g0156 a0001c0025t0002g0020 a0001c0027t0001g0083 a0001c0028t0001g0084 a0001c0033t0001g0149 a0001c0035t0001g0095 a0001c0036t0002g0049 a0001c0037t0001g0131 a0001c0039t0002g0109 a0001c0040t0001g0164 a0001c0041t0005g0139 a0001c0046t0001g0071 a0001c0048t0002g0102 a0001c0049t0005g0148 a0001c0050t0001g0115 a0001c0053t0001g0056 a0001c0054t0002g0154 a0001c0055t0005g0161 a0001c0056t0001g0186 a0001c0058t0003g0197 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0026t0001g0073 a0003c0021t0001g0079 a0003c0021t0001g0140 a0003c0024t0001g0053 a0003c0024t0001g0057 a0004c0010t0001g0024 a0004c0010t0001g0082 a0005c0031t0002g0117 a0006c0045t0002g0100 a0007c0043t0001g0141 a0008c0042t0001g0165 a0009c0032t0001g0193 a0010c0038t0001g0133 a0011c0034t0001g0124 a0012c0044t0001g0099 a0013c0047t0001g0166 a0014c0030t0001g0068 a0015c0029t0001g0145 a0016c0052t0001g0168 a0017c0057t0001g0196	312	320	0.9750	c.203 others(4): Show c.2037T>C	p.Asp others(6): Show p.Asp679Asp	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	15/49	2134/8103	2037/7311	679/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137020375	G G	A A	synonymous_variant synonymous_variant	LOW	HG03225.hp2 NA21309.hp1 HG03225.hp2 NA21309.hp1	a0001 a0001	a0001c0051 a0001c0056 a0001c0051 a0001c0056	a0001c0051t0003 a0001c0056t0001 a0001c0051t0003 a0001c0056t0001	a0001c0051t0003g0152 a0001c0056t0001g0186 a0001c0051t0003g0152 a0001c0056t0001g0186	2	320	0.0063	c.138 others(4): Show c.1386C>T	p.Tyr others(6): Show p.Tyr462Tyr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	10/49	1483/8103	1386/7311	462/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137020696	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02109.hp1 HG02717.hp1 HG02886.hp1 others(2): Show HG02109.hp1 HG02717.hp1 HG02886.hp1 HG03098.hp2 NA19240.hp2	a0001 a0001	a0001c0015 a0001c0025 a0001c0015 a0001c0025	a0001c0015t0003 a0001c0025t0002 a0001c0015t0003 a0001c0025t0002	a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 others(1): Show a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0025t0002g0020	5	320	0.0156	c.126 others(4): Show c.1263C>T	p.Asn others(6): Show p.Asn421Asn	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	9/49	1360/8103	1263/7311	421/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137021488	A A	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG01168.hp1 HG01255.hp2 others(1): Show HG00099.hp2 HG01168.hp1 HG01255.hp2 HG03688.hp2	a0001 a0001	a0001c0011 a0001c0028 a0001c0011 a0001c0028	a0001c0011t0001 a0001c0028t0001 a0001c0011t0001 a0001c0028t0001	a0001c0011t0001g0014 a0001c0028t0001g0084 a0001c0011t0001g0014 a0001c0028t0001g0084	4	320	0.0125	c.801 others(3): Show c.801T>G	p.Ala others(6): Show p.Ala267Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	8/49	898/8103	801/7311	267/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137021533	A A	C C	synonymous_variant synonymous_variant	LOW	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0001 a0001c0027t0001	a0001c0027t0001g0083 a0001c0027t0001g0083	1	320	0.0031	c.756 others(3): Show c.756T>G	p.Thr others(6): Show p.Thr252Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	8/49	853/8103	756/7311	252/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022381	T T	G G	synonymous_variant synonymous_variant	LOW	HG00735.hp1 HG00741.hp2 HG01099.hp2 others(33): Show HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG02109.hp1 HG02129.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG04204.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp1 NA18953.hp2 NA18961.hp2 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0006 a0001c0009 a0001c0014 others(10): Show a0001c0006 a0001c0009 a0001c0014 a0001c0015 a0001c0023 a0001c0025 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0002c0004 a0002c0026 a0003c0024	a0001c0006t0003 a0001c0009t0001 a0001c0014t0003 others(12): Show a0001c0006t0003 a0001c0009t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0003 a0001c0023t0003 a0001c0023t0005 a0001c0025t0002 a0001c0053t0001 a0001c0054t0002 a0001c0055t0005 a0001c0056t0001 a0002c0004t0001 a0002c0026t0001 a0003c0024t0001	a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 others(27): Show a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0178 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0014t0003g0155 a0001c0014t0003g0162 a0001c0014t0004g0158 a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0023t0003g0157 a0001c0023t0005g0156 a0001c0025t0002g0020 a0001c0053t0001g0056 a0001c0054t0002g0154 a0001c0055t0005g0161 a0001c0056t0001g0186 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0026t0001g0073 a0003c0024t0001g0053 a0003c0024t0001g0057	36	320	0.1125	c.537 others(3): Show c.537A>C	p.Ala others(6): Show p.Ala179Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	6/49	634/8103	537/7311	179/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137024179	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0003 a0001c0058t0003	a0001c0058t0003g0197 a0001c0058t0003g0197	1	320	0.0031	c.124 others(3): Show c.124C>T	p.Leu others(5): Show p.Leu42Leu	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	2/49	221/8103	124/7311	42/2436	chr9	TogoVar
ABCA3_chr16_2270881_2345728	2278365	G G	A A	synonymous_variant synonymous_variant	LOW	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0097 a0001c0018t0001g0097	1	252	0.0040	c.464 others(4): Show c.4641C>T	p.Pro others(7): Show p.Pro1547Pro	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	30/33	5335/6602	4641/5115	1547/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2281393	C C	T T	synonymous_variant synonymous_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0002 a0001c0019t0002	a0001c0019t0002g0221 a0001c0019t0002g0221	1	252	0.0040	c.415 others(4): Show c.4152G>A	p.Lys others(7): Show p.Lys1384Lys	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	27/33	4846/6602	4152/5115	1384/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2281429	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18978.hp1 NA18978.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 others(5): Show a0001 a0003 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0004 others(17): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0001c0018 a0001c0020 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0003c0013 a0007c0016 a0008c0017 a0009c0021 a0010c0027 a0011c0014 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0004t0001 a0001c0005t0001 a0001c0005t0006 a0001c0007t0001 a0001c0008t0001 a0001c0011t0001 a0001c0018t0001 a0001c0020t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0002 a0001c0028t0001 a0003c0013t0001 a0007c0016t0001 a0008c0017t0001 a0009c0021t0002 a0010c0027t0003 a0011c0014t0001 a0012c0012t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 others(212): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0219 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0007g0002 a0001c0001t0008g0178 a0001c0001t0009g0085 a0001c0001t0010g0224 a0001c0001t0013g0248 a0001c0001t0014g0249 a0001c0001t0015g0250 a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0031 a0001c0002t0011g0101 a0001c0004t0001g0040 a0001c0004t0001g0053 a0001c0004t0001g0057 a0001c0004t0001g0067 a0001c0004t0001g0080 a0001c0004t0001g0106 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0145 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0223 a0001c0004t0001g0225 a0001c0004t0001g0247 a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0007t0001g0137 a0001c0007t0001g0140 a0001c0007t0001g0174 a0001c0008t0001g0139 a0001c0008t0001g0173 a0001c0008t0001g0175 a0001c0011t0001g0051 a0001c0011t0001g0135 a0001c0018t0001g0097 a0001c0020t0001g0075 a0001c0024t0001g0164 a0001c0025t0001g0043 a0001c0026t0002g0208 a0001c0028t0001g0134 a0003c0013t0001g0166 a0007c0016t0001g0111 a0008c0017t0001g0123 a0009c0021t0002g0210 a0010c0027t0003g0018 a0011c0014t0001g0098 a0012c0012t0001g0041	217	252	0.8611	c.411 others(4): Show c.4116T>C	p.Ser others(7): Show p.Ser1372Ser	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	27/33	4810/6602	4116/5115	1372/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2283237	C C	A A	synonymous_variant synonymous_variant	LOW	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0075 a0001c0020t0001g0075	1	252	0.0040	c.398 others(4): Show c.3984G>T	p.Leu others(7): Show p.Leu1328Leu	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	26/33	4678/6602	3984/5115	1328/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2284280	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0164 a0001c0024t0001g0164	1	252	0.0040	c.386 others(4): Show c.3861T>C	p.Tyr others(7): Show p.Tyr1287Tyr	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	25/33	4555/6602	3861/5115	1287/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2288234	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0044 a0005c0023t0001g0044	1	252	0.0040	c.279 others(4): Show c.2796G>A	p.Val others(6): Show p.Val932Val	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	21/33	3490/6602	2796/5115	932/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2298413	G G	A A	synonymous_variant synonymous_variant	LOW	HG02818.hp1 NA21309.hp1 HG02818.hp1 NA21309.hp1	a0001 a0001	a0001c0024 a0001c0025 a0001c0024 a0001c0025	a0001c0024t0001 a0001c0025t0001 a0001c0024t0001 a0001c0025t0001	a0001c0024t0001g0164 a0001c0025t0001g0043 a0001c0024t0001g0164 a0001c0025t0001g0043	2	252	0.0079	c.186 others(4): Show c.1869C>T	p.Val others(6): Show p.Val623Val	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	15/33	2563/6602	1869/5115	623/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2298527	G G	C C	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00642.hp2 HG00735.hp1 others(15): Show HG00323.hp2 HG00642.hp2 HG00735.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp1 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG02683.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18950.hp1 NA19043.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0004 a0001c0007	a0001c0004t0001 a0001c0007t0001 a0001c0004t0001 a0001c0007t0001	a0001c0004t0001g0040 a0001c0004t0001g0053 a0001c0004t0001g0057 others(15): Show a0001c0004t0001g0040 a0001c0004t0001g0053 a0001c0004t0001g0057 a0001c0004t0001g0067 a0001c0004t0001g0080 a0001c0004t0001g0106 a0001c0004t0001g0118 a0001c0004t0001g0119 a0001c0004t0001g0120 a0001c0004t0001g0145 a0001c0004t0001g0169 a0001c0004t0001g0170 a0001c0004t0001g0223 a0001c0004t0001g0225 a0001c0004t0001g0247 a0001c0007t0001g0137 a0001c0007t0001g0140 a0001c0007t0001g0174	18	252	0.0714	c.175 others(4): Show c.1755C>G	p.Pro others(6): Show p.Pro585Pro	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	15/33	2449/6602	1755/5115	585/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2299422	G G	A A	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0002 a0001c0026t0002	a0001c0026t0002g0208 a0001c0026t0002g0208	1	252	0.0040	c.172 others(4): Show c.1722C>T	p.Thr others(6): Show p.Thr574Thr	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	14/33	2416/6602	1722/5115	574/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2317335	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00408.hp2 HG00639.hp1 others(48): Show HG00280.hp1 HG00408.hp2 HG00639.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01169.hp1 HG01255.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02056.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02486.hp2 HG02698.hp2 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp2 HG03654.hp2 NA18747.hp1 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18950.hp2 NA18953.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18978.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19043.hp2 NA19058.hp1 NA19064.hp1 NA20905.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0001c0006 a0001c0008 others(2): Show a0001c0002 a0001c0006 a0001c0008 a0001c0028 a0010c0027	a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 others(5): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0006t0001 a0001c0006t0004 a0001c0008t0001 a0001c0028t0001 a0010c0027t0003	a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 others(47): Show a0001c0002t0001g0001 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0050 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0077 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0102 a0001c0002t0001g0108 a0001c0002t0001g0110 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0182 a0001c0002t0001g0187 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0031 a0001c0002t0011g0101 a0001c0006t0001g0165 a0001c0006t0004g0004 a0001c0006t0004g0005 a0001c0006t0004g0007 a0001c0008t0001g0139 a0001c0008t0001g0173 a0001c0008t0001g0175 a0001c0028t0001g0134 a0010c0027t0003g0018	51	252	0.2024	c.105 others(4): Show c.1059C>T	p.Phe others(6): Show p.Phe353Phe	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	10/33	1753/6602	1059/5115	353/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2319773	G G	A A	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG00642.hp2 HG01099.hp2 others(3): Show HG00323.hp2 HG00642.hp2 HG01099.hp2 HG01106.hp2 HG03017.hp1 HG03239.hp1	a0001 a0001	a0001c0007 a0001c0008 a0001c0007 a0001c0008	a0001c0007t0001 a0001c0008t0001 a0001c0007t0001 a0001c0008t0001	a0001c0007t0001g0137 a0001c0007t0001g0140 a0001c0007t0001g0174 others(3): Show a0001c0007t0001g0137 a0001c0007t0001g0140 a0001c0007t0001g0174 a0001c0008t0001g0139 a0001c0008t0001g0173 a0001c0008t0001g0175	6	252	0.0238	c.681 others(3): Show c.681C>T	p.Ala others(6): Show p.Ala227Ala	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	8/33	1375/6602	681/5115	227/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2323686	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01884.hp1 HG01891.hp2 HG02258.hp2 others(6): Show HG01884.hp1 HG01891.hp2 HG02258.hp2 HG02723.hp2 HG02809.hp1 HG03098.hp1 HG03516.hp2 HG03579.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0009 a0001c0005 a0001c0009	a0001c0005t0001 a0001c0005t0006 a0001c0009t0001 a0001c0005t0001 a0001c0005t0006 a0001c0009t0001	a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 others(6): Show a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0009t0001g0047 a0001c0009t0001g0049	9	252	0.0357	c.450 others(3): Show c.450G>A	p.Val others(6): Show p.Val150Val	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	7/33	1144/6602	450/5115	150/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2326116	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp2 NA18951.hp2 NA19070.hp2 HG00408.hp2 NA18951.hp2 NA19070.hp2	a0001 a0001	a0001c0011 a0001c0028 a0001c0011 a0001c0028	a0001c0011t0001 a0001c0028t0001 a0001c0011t0001 a0001c0028t0001	a0001c0011t0001g0051 a0001c0011t0001g0135 a0001c0028t0001g0134 a0001c0011t0001g0051 a0001c0011t0001g0135 a0001c0028t0001g0134	3	252	0.0119	c.213 others(3): Show c.213C>T	p.Phe others(5): Show p.Phe71Phe	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	5/33	907/6602	213/5115	71/1704	chr16	TogoVar
ABCA4_chr1_93987834_94126148	93996193	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp2 HG02109.hp2 HG02486.hp2 others(7): Show HG01891.hp2 HG02109.hp2 HG02486.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG03098.hp1 HG03471.hp1 HG06807.hp2 NA18906.hp1	a0003 a0006 a0019 others(2): Show a0003 a0006 a0019 a0022 a0024	a0003c0015 a0003c0067 a0006c0012 others(4): Show a0003c0015 a0003c0067 a0006c0012 a0006c0076 a0019c0089 a0022c0105 a0024c0102	a0003c0015t0001 a0003c0067t0001 a0006c0012t0001 others(4): Show a0003c0015t0001 a0003c0067t0001 a0006c0012t0001 a0006c0076t0001 a0019c0089t0001 a0022c0105t0001 a0024c0102t0001	a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0067t0001g0128 others(7): Show a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0067t0001g0128 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0076t0001g0005 a0019c0089t0001g0297 a0022c0105t0001g0124 a0024c0102t0001g0015	10	306	0.0327	c.673 others(4): Show c.6732G>A	p.Val others(7): Show p.Val2244Val	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	49/50	6835/7328	6732/6822	2244/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94001103	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00544.hp1 HG00639.hp1 others(91): Show HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01109.hp2 HG01169.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02027.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18942.hp1 NA18953.hp2 NA18967.hp2 NA18970.hp2 NA18974.hp1 NA18974.hp2 NA18986.hp2 NA18989.hp2 NA18997.hp2 NA18998.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp2 NA19087.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(26): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0017 a0019 a0022 a0023 a0024 a0025 a0028 a0029 a0031 a0032 a0036 a0037 a0038 a0040 a0042 a0044 a0047 a0049 a0051	a0001c0004 a0001c0006 a0001c0007 others(53): Show a0001c0004 a0001c0006 a0001c0007 a0001c0055 a0001c0064 a0001c0081 a0001c0085 a0001c0108 a0002c0029 a0002c0094 a0002c0098 a0003c0008 a0003c0015 a0003c0020 a0003c0031 a0003c0057 a0003c0066 a0003c0067 a0003c0075 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0005c0037 a0005c0040 a0005c0042 a0006c0012 a0006c0054 a0006c0076 a0007c0026 a0007c0027 a0007c0034 a0009c0079 a0010c0069 a0014c0050 a0014c0051 a0017c0017 a0019c0089 a0019c0090 a0022c0105 a0023c0036 a0024c0102 a0025c0101 a0028c0074 a0029c0056 a0031c0059 a0032c0060 a0036c0071 a0037c0058 a0038c0077 a0040c0087 a0042c0092 a0044c0093 a0047c0103 a0049c0106 a0051c0110	a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 others(54): Show a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0001c0007t0001 a0001c0055t0005 a0001c0064t0001 a0001c0081t0002 a0001c0085t0002 a0001c0108t0001 a0002c0029t0001 a0002c0094t0001 a0002c0098t0001 a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 a0003c0031t0004 a0003c0057t0002 a0003c0066t0003 a0003c0067t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0005c0037t0001 a0005c0040t0001 a0005c0042t0001 a0006c0012t0001 a0006c0054t0002 a0006c0076t0001 a0007c0026t0001 a0007c0027t0002 a0007c0034t0002 a0009c0079t0001 a0010c0069t0001 a0014c0050t0001 a0014c0051t0002 a0017c0017t0001 a0019c0089t0001 a0019c0090t0003 a0022c0105t0001 a0023c0036t0003 a0024c0102t0001 a0025c0101t0001 a0028c0074t0002 a0029c0056t0003 a0031c0059t0001 a0032c0060t0001 a0036c0071t0003 a0037c0058t0001 a0038c0077t0002 a0040c0087t0001 a0042c0092t0004 a0044c0093t0001 a0047c0103t0001 a0049c0106t0001 a0051c0110t0001	a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 others(91): Show a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0006t0001g0039 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0145 a0001c0006t0001g0147 a0001c0006t0001g0154 a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0055t0005g0302 a0001c0064t0001g0233 a0001c0081t0002g0153 a0001c0085t0002g0278 a0001c0108t0001g0008 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0057t0002g0137 a0003c0066t0003g0206 a0003c0067t0001g0128 a0003c0075t0001g0090 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0005c0037t0001g0051 a0005c0040t0001g0125 a0005c0042t0001g0114 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0054t0002g0123 a0006c0076t0001g0005 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0009c0079t0001g0133 a0010c0069t0001g0293 a0014c0050t0001g0012 a0014c0051t0002g0013 a0017c0017t0001g0062 a0017c0017t0001g0063 a0019c0089t0001g0297 a0019c0090t0003g0047 a0022c0105t0001g0124 a0023c0036t0003g0068 a0024c0102t0001g0015 a0025c0101t0001g0014 a0028c0074t0002g0243 a0029c0056t0003g0140 a0031c0059t0001g0066 a0032c0060t0001g0011 a0036c0071t0003g0048 a0037c0058t0001g0088 a0038c0077t0002g0177 a0040c0087t0001g0192 a0042c0092t0004g0006 a0044c0093t0001g0017 a0047c0103t0001g0050 a0049c0106t0001g0205 a0051c0110t0001g0301	94	306	0.3072	c.628 others(4): Show c.6285T>C	p.Asp others(7): Show p.Asp2095Asp	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	46/50	6388/7328	6285/6822	2095/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94001891	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00544.hp1 HG00733.hp2 others(34): Show HG00280.hp2 HG00544.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG02027.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02451.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 NA18967.hp2 NA18974.hp2 NA18997.hp2 NA18998.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0014 a0017 a0019 a0028 a0029 a0038	a0001c0007 a0001c0081 a0001c0108 others(19): Show a0001c0007 a0001c0081 a0001c0108 a0002c0098 a0003c0008 a0003c0057 a0003c0066 a0003c0082 a0004c0011 a0004c0035 a0005c0037 a0006c0054 a0007c0027 a0007c0034 a0009c0079 a0010c0069 a0014c0051 a0017c0017 a0019c0090 a0028c0074 a0029c0056 a0038c0077	a0001c0007t0001 a0001c0081t0002 a0001c0108t0001 others(19): Show a0001c0007t0001 a0001c0081t0002 a0001c0108t0001 a0002c0098t0001 a0003c0008t0002 a0003c0057t0002 a0003c0066t0003 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0005c0037t0001 a0006c0054t0002 a0007c0027t0002 a0007c0034t0002 a0009c0079t0001 a0010c0069t0001 a0014c0051t0002 a0017c0017t0001 a0019c0090t0003 a0028c0074t0002 a0029c0056t0003 a0038c0077t0002	a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 others(34): Show a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0081t0002g0153 a0001c0108t0001g0008 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0057t0002g0137 a0003c0066t0003g0206 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0005c0037t0001g0051 a0006c0054t0002g0123 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0009c0079t0001g0133 a0010c0069t0001g0293 a0014c0051t0002g0013 a0017c0017t0001g0062 a0017c0017t0001g0063 a0019c0090t0003g0047 a0028c0074t0002g0243 a0029c0056t0003g0140 a0038c0077t0002g0177	37	306	0.1209	c.624 others(4): Show c.6249C>T	p.Ile others(7): Show p.Ile2083Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	45/50	6352/7328	6249/6822	2083/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94005519	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(35): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0018 a0020 a0023 a0025 a0026 a0027 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0048 a0049 a0050	a0001c0001 a0001c0003 a0001c0004 others(60): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0052 a0001c0055 a0001c0064 a0001c0084 a0001c0085 a0001c0107 a0002c0002 a0002c0028 a0002c0029 a0002c0094 a0002c0095 a0003c0020 a0003c0031 a0003c0061 a0003c0065 a0003c0066 a0003c0078 a0004c0044 a0005c0040 a0005c0041 a0005c0043 a0007c0026 a0007c0097 a0008c0014 a0008c0024 a0010c0023 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0013c0048 a0014c0050 a0015c0022 a0016c0019 a0018c0025 a0020c0030 a0023c0036 a0025c0101 a0026c0100 a0027c0049 a0031c0059 a0032c0060 a0033c0062 a0034c0083 a0035c0063 a0036c0071 a0037c0058 a0039c0086 a0040c0087 a0041c0088 a0042c0092 a0043c0099 a0044c0093 a0045c0096 a0046c0091 a0048c0038 a0049c0106 a0050c0109	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(62): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0009t0001 a0001c0052t0001 a0001c0055t0005 a0001c0064t0001 a0001c0084t0001 a0001c0085t0002 a0001c0107t0001 a0002c0002t0001 a0002c0028t0001 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0003c0020t0001 a0003c0031t0004 a0003c0061t0001 a0003c0065t0002 a0003c0066t0003 a0003c0078t0004 a0004c0044t0002 a0005c0040t0001 a0005c0041t0001 a0005c0043t0001 a0007c0026t0001 a0007c0097t0002 a0008c0014t0001 a0008c0024t0001 a0010c0023t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0013c0048t0001 a0014c0050t0001 a0015c0022t0001 a0016c0019t0001 a0018c0025t0001 a0020c0030t0001 a0023c0036t0003 a0025c0101t0001 a0026c0100t0001 a0027c0049t0001 a0031c0059t0001 a0032c0060t0001 a0033c0062t0001 a0034c0083t0001 a0035c0063t0001 a0036c0071t0003 a0037c0058t0001 a0039c0086t0001 a0040c0087t0001 a0041c0088t0001 a0042c0092t0004 a0043c0099t0001 a0044c0093t0001 a0045c0096t0001 a0046c0091t0001 a0048c0038t0001 a0049c0106t0001 a0050c0109t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0027 others(222): Show a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0132 a0001c0001t0001g0139 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0290 a0001c0001t0002g0054 a0001c0001t0002g0112 a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0040 a0001c0003t0001g0072 a0001c0003t0001g0085 a0001c0003t0001g0096 a0001c0003t0001g0107 a0001c0003t0001g0184 a0001c0003t0001g0191 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0248 a0001c0003t0001g0263 a0001c0003t0001g0277 a0001c0003t0001g0279 a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0289 a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0005t0001g0030 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0175 a0001c0005t0001g0178 a0001c0005t0001g0231 a0001c0005t0001g0259 a0001c0005t0001g0282 a0001c0009t0001g0004 a0001c0009t0001g0103 a0001c0009t0001g0258 a0001c0052t0001g0069 a0001c0055t0005g0302 a0001c0064t0001g0233 a0001c0084t0001g0026 a0001c0085t0002g0278 a0001c0107t0001g0009 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0020 a0002c0002t0001g0028 a0002c0002t0001g0038 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0055 a0002c0002t0001g0059 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0093 a0002c0002t0001g0098 a0002c0002t0001g0102 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0116 a0002c0002t0001g0120 a0002c0002t0001g0165 a0002c0002t0001g0180 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0221 a0002c0002t0001g0265 a0002c0002t0001g0286 a0002c0028t0001g0029 a0002c0028t0001g0031 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0095t0001g0163 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0061t0001g0032 a0003c0065t0002g0268 a0003c0066t0003g0206 a0003c0078t0004g0264 a0004c0044t0002g0190 a0005c0040t0001g0125 a0005c0041t0001g0025 a0005c0043t0001g0194 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0097t0002g0100 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0008c0024t0001g0285 a0008c0024t0001g0287 a0010c0023t0001g0170 a0010c0023t0001g0212 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0013c0048t0001g0024 a0014c0050t0001g0012 a0015c0022t0001g0252 a0015c0022t0001g0267 a0016c0019t0001g0109 a0016c0019t0001g0164 a0018c0025t0001g0002 a0020c0030t0001g0251 a0020c0030t0001g0261 a0023c0036t0003g0068 a0025c0101t0001g0014 a0026c0100t0001g0288 a0027c0049t0001g0240 a0031c0059t0001g0066 a0032c0060t0001g0011 a0033c0062t0001g0257 a0034c0083t0001g0138 a0035c0063t0001g0033 a0036c0071t0003g0048 a0037c0058t0001g0088 a0039c0086t0001g0135 a0040c0087t0001g0192 a0041c0088t0001g0016 a0042c0092t0004g0006 a0043c0099t0001g0254 a0044c0093t0001g0017 a0045c0096t0001g0097 a0046c0091t0001g0266 a0048c0038t0001g0199 a0049c0106t0001g0205 a0050c0109t0001g0262	229	306	0.7484	c.606 others(4): Show c.6069T>C	p.Ile others(7): Show p.Ile2023Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	44/50	6172/7328	6069/6822	2023/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94008289	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00639.hp1 HG00738.hp2 others(56): Show HG00099.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG02080.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18953.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0023 a0025 a0031 a0032 a0036 a0037 a0040 a0041 a0042 a0044 a0046 a0048 a0049 a0051	a0001c0004 a0001c0005 a0001c0085 others(30): Show a0001c0004 a0001c0005 a0001c0085 a0002c0029 a0002c0094 a0002c0095 a0003c0020 a0003c0031 a0003c0061 a0003c0078 a0005c0040 a0007c0026 a0008c0014 a0010c0023 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0014c0050 a0023c0036 a0025c0101 a0031c0059 a0032c0060 a0036c0071 a0037c0058 a0040c0087 a0041c0088 a0042c0092 a0044c0093 a0046c0091 a0048c0038 a0049c0106 a0051c0110	a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 others(31): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0085t0002 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0003c0020t0001 a0003c0031t0004 a0003c0061t0001 a0003c0078t0004 a0005c0040t0001 a0007c0026t0001 a0008c0014t0001 a0010c0023t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0014c0050t0001 a0023c0036t0003 a0025c0101t0001 a0031c0059t0001 a0032c0060t0001 a0036c0071t0003 a0037c0058t0001 a0040c0087t0001 a0041c0088t0001 a0042c0092t0004 a0044c0093t0001 a0046c0091t0001 a0048c0038t0001 a0049c0106t0001 a0051c0110t0001	a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 others(56): Show a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0005t0001g0030 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0175 a0001c0005t0001g0178 a0001c0005t0001g0231 a0001c0005t0001g0259 a0001c0005t0001g0282 a0001c0085t0002g0278 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0095t0001g0163 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0061t0001g0032 a0003c0078t0004g0264 a0005c0040t0001g0125 a0007c0026t0001g0299 a0007c0026t0001g0300 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0010c0023t0001g0170 a0010c0023t0001g0212 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0014c0050t0001g0012 a0023c0036t0003g0068 a0025c0101t0001g0014 a0031c0059t0001g0066 a0032c0060t0001g0011 a0036c0071t0003g0048 a0037c0058t0001g0088 a0040c0087t0001g0192 a0041c0088t0001g0016 a0042c0092t0004g0006 a0044c0093t0001g0017 a0046c0091t0001g0266 a0048c0038t0001g0199 a0049c0106t0001g0205 a0051c0110t0001g0301	59	306	0.1928	c.584 others(4): Show c.5844A>G	p.Pro others(7): Show p.Pro1948Pro	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	42/50	5947/7328	5844/6822	1948/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94008772	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00639.hp1 HG00642.hp1 others(64): Show HG00099.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01515.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02080.hp2 HG02148.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18953.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(23): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0023 a0025 a0031 a0032 a0033 a0036 a0037 a0040 a0041 a0042 a0044 a0046 a0048 a0049 a0051	a0001c0004 a0001c0005 a0001c0009 others(34): Show a0001c0004 a0001c0005 a0001c0009 a0001c0084 a0001c0085 a0002c0028 a0002c0029 a0002c0094 a0002c0095 a0003c0020 a0003c0031 a0003c0061 a0003c0078 a0005c0040 a0007c0026 a0008c0014 a0010c0023 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0014c0050 a0023c0036 a0025c0101 a0031c0059 a0032c0060 a0033c0062 a0036c0071 a0037c0058 a0040c0087 a0041c0088 a0042c0092 a0044c0093 a0046c0091 a0048c0038 a0049c0106 a0051c0110	a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 others(35): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0009t0001 a0001c0084t0001 a0001c0085t0002 a0002c0028t0001 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0003c0020t0001 a0003c0031t0004 a0003c0061t0001 a0003c0078t0004 a0005c0040t0001 a0007c0026t0001 a0008c0014t0001 a0010c0023t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0014c0050t0001 a0023c0036t0003 a0025c0101t0001 a0031c0059t0001 a0032c0060t0001 a0033c0062t0001 a0036c0071t0003 a0037c0058t0001 a0040c0087t0001 a0041c0088t0001 a0042c0092t0004 a0044c0093t0001 a0046c0091t0001 a0048c0038t0001 a0049c0106t0001 a0051c0110t0001	a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 others(63): Show a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0005t0001g0030 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0175 a0001c0005t0001g0178 a0001c0005t0001g0231 a0001c0005t0001g0259 a0001c0005t0001g0282 a0001c0009t0001g0004 a0001c0009t0001g0103 a0001c0009t0001g0258 a0001c0084t0001g0026 a0001c0085t0002g0278 a0002c0028t0001g0029 a0002c0028t0001g0031 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0095t0001g0163 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0061t0001g0032 a0003c0078t0004g0264 a0005c0040t0001g0125 a0007c0026t0001g0299 a0007c0026t0001g0300 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0010c0023t0001g0170 a0010c0023t0001g0212 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0014c0050t0001g0012 a0023c0036t0003g0068 a0025c0101t0001g0014 a0031c0059t0001g0066 a0032c0060t0001g0011 a0033c0062t0001g0257 a0036c0071t0003g0048 a0037c0058t0001g0088 a0040c0087t0001g0192 a0041c0088t0001g0016 a0042c0092t0004g0006 a0044c0093t0001g0017 a0046c0091t0001g0266 a0048c0038t0001g0199 a0049c0106t0001g0205 a0051c0110t0001g0301	67	306	0.2190	c.581 others(4): Show c.5814A>G	p.Leu others(7): Show p.Leu1938Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	41/50	5917/7328	5814/6822	1938/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94010832	C C	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00639.hp1 others(59): Show HG00099.hp1 HG00099.hp2 HG00639.hp1 HG00738.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01261.hp2 HG01361.hp1 HG01515.hp1 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG02080.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02976.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18953.hp2 NA18970.hp2 NA18974.hp1 NA18979.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA19004.hp2 NA19007.hp1 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19066.hp2 NA19081.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(24): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0023 a0025 a0031 a0032 a0036 a0037 a0040 a0041 a0042 a0043 a0044 a0046 a0048 a0049 a0051	a0001c0004 a0001c0005 a0001c0085 others(32): Show a0001c0004 a0001c0005 a0001c0085 a0002c0029 a0002c0094 a0002c0095 a0003c0020 a0003c0031 a0003c0061 a0003c0078 a0005c0040 a0007c0026 a0008c0014 a0010c0023 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0014c0050 a0015c0022 a0023c0036 a0025c0101 a0031c0059 a0032c0060 a0036c0071 a0037c0058 a0040c0087 a0041c0088 a0042c0092 a0043c0099 a0044c0093 a0046c0091 a0048c0038 a0049c0106 a0051c0110	a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 others(33): Show a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0085t0002 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0003c0020t0001 a0003c0031t0004 a0003c0061t0001 a0003c0078t0004 a0005c0040t0001 a0007c0026t0001 a0008c0014t0001 a0010c0023t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0014c0050t0001 a0015c0022t0001 a0023c0036t0003 a0025c0101t0001 a0031c0059t0001 a0032c0060t0001 a0036c0071t0003 a0037c0058t0001 a0040c0087t0001 a0041c0088t0001 a0042c0092t0004 a0043c0099t0001 a0044c0093t0001 a0046c0091t0001 a0048c0038t0001 a0049c0106t0001 a0051c0110t0001	a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 others(59): Show a0001c0004t0001g0036 a0001c0004t0001g0091 a0001c0004t0001g0151 a0001c0004t0001g0193 a0001c0004t0001g0195 a0001c0004t0001g0217 a0001c0004t0001g0222 a0001c0004t0001g0223 a0001c0004t0001g0228 a0001c0004t0001g0236 a0001c0004t0001g0249 a0001c0004t0002g0235 a0001c0005t0001g0030 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0175 a0001c0005t0001g0178 a0001c0005t0001g0231 a0001c0005t0001g0259 a0001c0005t0001g0282 a0001c0085t0002g0278 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0095t0001g0163 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0061t0001g0032 a0003c0078t0004g0264 a0005c0040t0001g0125 a0007c0026t0001g0299 a0007c0026t0001g0300 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0010c0023t0001g0170 a0010c0023t0001g0212 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0014c0050t0001g0012 a0015c0022t0001g0252 a0015c0022t0001g0267 a0023c0036t0003g0068 a0025c0101t0001g0014 a0031c0059t0001g0066 a0032c0060t0001g0011 a0036c0071t0003g0048 a0037c0058t0001g0088 a0040c0087t0001g0192 a0041c0088t0001g0016 a0042c0092t0004g0006 a0043c0099t0001g0254 a0044c0093t0001g0017 a0046c0091t0001g0266 a0048c0038t0001g0199 a0049c0106t0001g0205 a0051c0110t0001g0301	62	306	0.2026	c.568 others(4): Show c.5682G>C	p.Leu others(7): Show p.Leu1894Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	40/50	5785/7328	5682/6822	1894/2273	chr1	TogoVar

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