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
ABCA4_chr1_93987834_94126148	94014612	A A	G G	synonymous_variant synonymous_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0005 a0001c0055t0005	a0001c0055t0005g0302 a0001c0055t0005g0302	1	306	0.0033	c.539 others(4): Show c.5391T>C	p.Cys others(7): Show p.Cys1797Cys	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	38/50	5494/7328	5391/6822	1797/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94031046	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp2 NA19055.hp1 HG03130.hp2 NA19055.hp1	a0001 a0001	a0001c0055 a0001c0085 a0001c0055 a0001c0085	a0001c0055t0005 a0001c0085t0002 a0001c0055t0005 a0001c0085t0002	a0001c0055t0005g0302 a0001c0085t0002g0278 a0001c0055t0005g0302 a0001c0085t0002g0278	2	306	0.0065	c.420 others(4): Show c.4203C>T	p.Pro others(7): Show p.Pro1401Pro	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	28/50	4306/7328	4203/6822	1401/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94031115	C C	T T	synonymous_variant synonymous_variant	LOW	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0057 a0003c0057	a0003c0057t0002 a0003c0057t0002	a0003c0057t0002g0137 a0003c0057t0002g0137	1	306	0.0033	c.413 others(4): Show c.4134G>A	p.Val others(7): Show p.Val1378Val	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	28/50	4237/7328	4134/6822	1378/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94036771	C C	T T	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0004 a0001 a0004	a0001c0055 a0004c0039 a0001c0055 a0004c0039	a0001c0055t0005 a0004c0039t0001 a0001c0055t0005 a0004c0039t0001	a0001c0055t0005g0302 a0004c0039t0001g0118 a0001c0055t0005g0302 a0004c0039t0001g0118	2	306	0.0065	c.383 others(4): Show c.3831G>A	p.Thr others(7): Show p.Thr1277Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	26/50	3934/7328	3831/6822	1277/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94037199	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0078 a0003c0078	a0003c0078t0004 a0003c0078t0004	a0003c0078t0004g0264 a0003c0078t0004g0264	1	306	0.0033	c.375 others(4): Show c.3759G>A	p.Thr others(7): Show p.Thr1253Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	25/50	3862/7328	3759/6822	1253/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94037349	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA21309.hp1 NA21309.hp1	a0047 a0047	a0047c0103 a0047c0103	a0047c0103t0001 a0047c0103t0001	a0047c0103t0001g0050 a0047c0103t0001g0050	1	306	0.0033	c.360 others(4): Show c.3609G>A	p.Gly others(7): Show p.Gly1203Gly	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	25/50	3712/7328	3609/6822	1203/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94042876	C C	T T	synonymous_variant synonymous_variant	LOW	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0052 a0001c0052	a0001c0052t0001 a0001c0052t0001	a0001c0052t0001g0069 a0001c0052t0001g0069	1	306	0.0033	c.321 others(4): Show c.3213G>A	p.Ser others(7): Show p.Ser1071Ser	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	22/50	3316/7328	3213/6822	1071/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94044699	G G	A A	synonymous_variant synonymous_variant	LOW	HG02809.hp1 HG02896.hp1 HG02976.hp2 others(5): Show HG02809.hp1 HG02896.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 NA19030.hp1 NA19030.hp2 NA21309.hp1	a0003 a0005 a0023 others(5): Show a0003 a0005 a0023 a0030 a0036 a0039 a0040 a0047	a0003c0072 a0005c0037 a0023c0036 others(5): Show a0003c0072 a0005c0037 a0023c0036 a0030c0070 a0036c0071 a0039c0086 a0040c0087 a0047c0103	a0003c0072t0001 a0005c0037t0001 a0023c0036t0003 others(5): Show a0003c0072t0001 a0005c0037t0001 a0023c0036t0003 a0030c0070t0001 a0036c0071t0003 a0039c0086t0001 a0040c0087t0001 a0047c0103t0001	a0003c0072t0001g0049 a0005c0037t0001g0051 a0023c0036t0003g0068 others(5): Show a0003c0072t0001g0049 a0005c0037t0001g0051 a0023c0036t0003g0068 a0030c0070t0001g0298 a0036c0071t0003g0048 a0039c0086t0001g0135 a0040c0087t0001g0192 a0047c0103t0001g0050	8	306	0.0261	c.296 others(4): Show c.2964C>T	p.Leu others(6): Show p.Leu988Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	20/50	3067/7328	2964/6822	988/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94044732	C C	T T	synonymous_variant synonymous_variant	LOW	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0075 a0003c0075	a0003c0075t0001 a0003c0075t0001	a0003c0075t0001g0090 a0003c0075t0001g0090	1	306	0.0033	c.293 others(4): Show c.2931G>A	p.Thr others(6): Show p.Thr977Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	20/50	3034/7328	2931/6822	977/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94051640	G G	A A	synonymous_variant synonymous_variant	LOW	NA18962.hp2 NA18962.hp2	a0013 a0013	a0013c0048 a0013c0048	a0013c0048t0001 a0013c0048t0001	a0013c0048t0001g0024 a0013c0048t0001g0024	1	306	0.0033	c.264 others(4): Show c.2646C>T	p.Gly others(6): Show p.Gly882Gly	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	17/50	2749/7328	2646/6822	882/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94062582	G G	A A	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG00738.hp2	a0011 a0011	a0011c0073 a0011c0073	a0011c0073t0001 a0011c0073t0001	a0011c0073t0001g0269 a0011c0073t0001g0269	1	306	0.0033	c.193 others(4): Show c.1932C>T	p.Asp others(6): Show p.Asp644Asp	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	13/50	2035/7328	1932/6822	644/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94063180	T T	C C	synonymous_variant synonymous_variant	LOW	HG00733.hp2 HG00733.hp2	a0028 a0028	a0028c0074 a0028c0074	a0028c0074t0002 a0028c0074t0002	a0028c0074t0002g0243 a0028c0074t0002g0243	1	306	0.0033	c.169 others(4): Show c.1692A>G	p.Pro others(6): Show p.Pro564Pro	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	12/50	1795/7328	1692/6822	564/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94078677	G G	A A	synonymous_variant synonymous_variant	LOW	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(36): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01169.hp2 HG01175.hp1 HG01884.hp1 HG01891.hp2 HG01943.hp2 HG02080.hp2 HG02148.hp1 HG02155.hp2 HG02451.hp2 HG02615.hp2 HG03486.hp1 HG03540.hp1 NA18947.hp2 NA18954.hp1 NA18955.hp2 NA18983.hp2 NA19004.hp2 NA19009.hp1 NA19011.hp2 NA19055.hp1 NA19063.hp1 NA19063.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19087.hp2 NA19088.hp2 NA20905.hp1 NA20905.hp2	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0005 a0006 a0008 a0009 a0034 a0038	a0001c0003 a0001c0080 a0001c0081 others(16): Show a0001c0003 a0001c0080 a0001c0081 a0001c0084 a0001c0085 a0001c0108 a0003c0075 a0003c0078 a0003c0082 a0004c0044 a0004c0046 a0005c0043 a0005c0045 a0006c0076 a0008c0014 a0008c0024 a0009c0079 a0034c0083 a0038c0077	a0001c0003t0001 a0001c0080t0001 a0001c0081t0002 others(16): Show a0001c0003t0001 a0001c0080t0001 a0001c0081t0002 a0001c0084t0001 a0001c0085t0002 a0001c0108t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0044t0002 a0004c0046t0001 a0005c0043t0001 a0005c0045t0001 a0006c0076t0001 a0008c0014t0001 a0008c0024t0001 a0009c0079t0001 a0034c0083t0001 a0038c0077t0002	a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0040 others(36): Show a0001c0003t0001g0021 a0001c0003t0001g0034 a0001c0003t0001g0040 a0001c0003t0001g0072 a0001c0003t0001g0085 a0001c0003t0001g0096 a0001c0003t0001g0107 a0001c0003t0001g0184 a0001c0003t0001g0191 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0248 a0001c0003t0001g0263 a0001c0003t0001g0277 a0001c0003t0001g0279 a0001c0003t0001g0281 a0001c0003t0001g0283 a0001c0003t0001g0289 a0001c0080t0001g0018 a0001c0081t0002g0153 a0001c0084t0001g0026 a0001c0085t0002g0278 a0001c0108t0001g0008 a0003c0075t0001g0090 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0044t0002g0190 a0004c0046t0001g0104 a0005c0043t0001g0194 a0005c0045t0001g0203 a0006c0076t0001g0005 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0008c0024t0001g0285 a0008c0024t0001g0287 a0009c0079t0001g0133 a0034c0083t0001g0138 a0038c0077t0002g0177	39	306	0.1275	c.126 others(4): Show c.1269C>T	p.His others(6): Show p.His423His	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	10/50	1372/7328	1269/6822	423/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94098944	G G	A A	synonymous_variant synonymous_variant	LOW	HG01109.hp2 HG03516.hp1 HG01109.hp2 HG03516.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0001 a0002c0029t0001	a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0029t0001g0237 a0002c0029t0001g0241	2	306	0.0065	c.618 others(3): Show c.618C>T	p.Ser others(6): Show p.Ser206Ser	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	6/50	721/7328	618/6822	206/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94103117	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp1 HG03486.hp1 HG02572.hp1 HG03486.hp1	a0001 a0001	a0001c0107 a0001c0108 a0001c0107 a0001c0108	a0001c0107t0001 a0001c0108t0001 a0001c0107t0001 a0001c0108t0001	a0001c0107t0001g0009 a0001c0108t0001g0008 a0001c0107t0001g0009 a0001c0108t0001g0008	2	306	0.0065	c.468 others(3): Show c.468C>T	p.Ile others(6): Show p.Ile156Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	5/50	571/7328	468/6822	156/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94111503	A A	G G	synonymous_variant synonymous_variant	LOW	HG03209.hp1 HG03453.hp1 HG03540.hp2 HG03209.hp1 HG03453.hp1 HG03540.hp2	a0004 a0005 a0023 a0004 a0005 a0023	a0004c0035 a0005c0037 a0023c0036 a0004c0035 a0005c0037 a0023c0036	a0004c0035t0002 a0005c0037t0001 a0023c0036t0003 a0004c0035t0002 a0005c0037t0001 a0023c0036t0003	a0004c0035t0002g0052 a0005c0037t0001g0051 a0023c0036t0003g0068 a0004c0035t0002g0052 a0005c0037t0001g0051 a0023c0036t0003g0068	3	306	0.0098	c.237 others(3): Show c.237T>C	p.Asn others(5): Show p.Asn79Asn	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	3/50	340/7328	237/6822	79/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94112992	T T	C C	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(297): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 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 HG01169.hp2 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 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 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 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 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 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 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 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.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.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18974.hp2 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 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(48): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051	a0001c0001 a0001c0003 a0001c0004 others(102): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0052 a0001c0055 a0001c0064 a0001c0080 a0001c0081 a0001c0084 a0001c0085 a0001c0107 a0001c0108 a0002c0002 a0002c0010 a0002c0028 a0002c0029 a0002c0094 a0002c0095 a0002c0098 a0003c0008 a0003c0020 a0003c0057 a0003c0061 a0003c0065 a0003c0066 a0003c0067 a0003c0068 a0003c0072 a0003c0075 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0004c0039 a0004c0044 a0004c0046 a0005c0037 a0005c0040 a0005c0041 a0005c0042 a0005c0043 a0005c0045 a0006c0012 a0006c0053 a0006c0054 a0006c0076 a0007c0026 a0007c0027 a0007c0097 a0008c0014 a0008c0024 a0009c0018 a0009c0079 a0010c0023 a0010c0069 a0011c0021 a0011c0073 a0012c0016 a0013c0047 a0013c0048 a0014c0050 a0014c0051 a0015c0022 a0016c0019 a0017c0017 a0018c0025 a0019c0089 a0019c0090 a0020c0030 a0021c0104 a0022c0105 a0023c0036 a0024c0102 a0025c0101 a0026c0100 a0027c0049 a0028c0074 a0029c0056 a0030c0070 a0031c0059 a0032c0060 a0033c0062 a0034c0083 a0035c0063 a0036c0071 a0037c0058 a0038c0077 a0039c0086 a0040c0087 a0041c0088 a0042c0092 a0043c0099 a0044c0093 a0045c0096 a0046c0091 a0047c0103 a0048c0038 a0049c0106 a0050c0109 a0051c0110	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(104): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0009t0001 a0001c0013t0001 a0001c0052t0001 a0001c0055t0005 a0001c0064t0001 a0001c0080t0001 a0001c0081t0002 a0001c0084t0001 a0001c0085t0002 a0001c0107t0001 a0001c0108t0001 a0002c0002t0001 a0002c0010t0001 a0002c0028t0001 a0002c0029t0001 a0002c0094t0001 a0002c0095t0001 a0002c0098t0001 a0003c0008t0002 a0003c0020t0001 a0003c0057t0002 a0003c0061t0001 a0003c0065t0002 a0003c0066t0003 a0003c0067t0001 a0003c0068t0001 a0003c0072t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0004c0046t0001 a0005c0037t0001 a0005c0040t0001 a0005c0041t0001 a0005c0042t0001 a0005c0043t0001 a0005c0045t0001 a0006c0012t0001 a0006c0053t0001 a0006c0054t0002 a0006c0076t0001 a0007c0026t0001 a0007c0027t0002 a0007c0097t0002 a0008c0014t0001 a0008c0024t0001 a0009c0018t0001 a0009c0079t0001 a0010c0023t0001 a0010c0069t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0013c0047t0001 a0013c0048t0001 a0014c0050t0001 a0014c0051t0002 a0015c0022t0001 a0016c0019t0001 a0017c0017t0001 a0018c0025t0001 a0019c0089t0001 a0019c0090t0003 a0020c0030t0001 a0021c0104t0001 a0022c0105t0001 a0023c0036t0003 a0024c0102t0001 a0025c0101t0001 a0026c0100t0001 a0027c0049t0001 a0028c0074t0002 a0029c0056t0003 a0030c0070t0001 a0031c0059t0001 a0032c0060t0001 a0033c0062t0001 a0034c0083t0001 a0035c0063t0001 a0036c0071t0003 a0037c0058t0001 a0038c0077t0002 a0039c0086t0001 a0040c0087t0001 a0041c0088t0001 a0042c0092t0004 a0043c0099t0001 a0044c0093t0001 a0045c0096t0001 a0046c0091t0001 a0047c0103t0001 a0048c0038t0001 a0049c0106t0001 a0050c0109t0001 a0051c0110t0001	a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0027 others(293): 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 a0001c0006t0001g0039 a0001c0006t0001g0142 a0001c0006t0001g0143 a0001c0006t0001g0144 a0001c0006t0001g0145 a0001c0006t0001g0147 a0001c0006t0001g0154 a0001c0007t0001g0037 a0001c0007t0001g0064 a0001c0007t0001g0089 a0001c0007t0001g0141 a0001c0007t0001g0150 a0001c0007t0001g0156 a0001c0007t0001g0292 a0001c0009t0001g0004 a0001c0009t0001g0103 a0001c0009t0001g0258 a0001c0013t0001g0171 a0001c0013t0001g0197 a0001c0013t0001g0295 a0001c0052t0001g0069 a0001c0055t0005g0302 a0001c0064t0001g0233 a0001c0080t0001g0018 a0001c0081t0002g0153 a0001c0084t0001g0026 a0001c0085t0002g0278 a0001c0107t0001g0009 a0001c0108t0001g0008 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 a0002c0010t0001g0058 a0002c0010t0001g0101 a0002c0010t0001g0121 a0002c0010t0001g0176 a0002c0028t0001g0029 a0002c0028t0001g0031 a0002c0029t0001g0237 a0002c0029t0001g0241 a0002c0094t0001g0079 a0002c0095t0001g0163 a0002c0098t0001g0276 a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0057t0002g0137 a0003c0061t0001g0032 a0003c0065t0002g0268 a0003c0066t0003g0206 a0003c0067t0001g0128 a0003c0068t0001g0108 a0003c0072t0001g0049 a0003c0075t0001g0090 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0004c0039t0001g0118 a0004c0044t0002g0190 a0004c0046t0001g0104 a0005c0037t0001g0051 a0005c0040t0001g0125 a0005c0041t0001g0025 a0005c0042t0001g0114 a0005c0043t0001g0194 a0005c0045t0001g0203 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0053t0001g0296 a0006c0054t0002g0123 a0006c0076t0001g0005 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0097t0002g0100 a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0008c0024t0001g0285 a0008c0024t0001g0287 a0009c0018t0001g0007 a0009c0018t0001g0061 a0009c0079t0001g0133 a0010c0023t0001g0170 a0010c0023t0001g0212 a0010c0069t0001g0293 a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152 a0013c0047t0001g0077 a0013c0048t0001g0024 a0014c0050t0001g0012 a0014c0051t0002g0013 a0015c0022t0001g0252 a0015c0022t0001g0267 a0016c0019t0001g0109 a0016c0019t0001g0164 a0017c0017t0001g0062 a0017c0017t0001g0063 a0018c0025t0001g0002 a0019c0089t0001g0297 a0019c0090t0003g0047 a0020c0030t0001g0251 a0020c0030t0001g0261 a0021c0104t0001g0129 a0022c0105t0001g0124 a0023c0036t0003g0068 a0024c0102t0001g0015 a0025c0101t0001g0014 a0026c0100t0001g0288 a0027c0049t0001g0240 a0028c0074t0002g0243 a0029c0056t0003g0140 a0030c0070t0001g0298 a0031c0059t0001g0066 a0032c0060t0001g0011 a0033c0062t0001g0257 a0034c0083t0001g0138 a0035c0063t0001g0033 a0036c0071t0003g0048 a0037c0058t0001g0088 a0038c0077t0002g0177 a0039c0086t0001g0135 a0040c0087t0001g0192 a0041c0088t0001g0016 a0042c0092t0004g0006 a0043c0099t0001g0254 a0044c0093t0001g0017 a0045c0096t0001g0097 a0046c0091t0001g0266 a0047c0103t0001g0050 a0048c0038t0001g0199 a0049c0106t0001g0205 a0050c0109t0001g0262 a0051c0110t0001g0301	300	306	0.9804	c.141 others(3): Show c.141A>G	p.Pro others(5): Show p.Pro47Pro	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	2/50	244/7328	141/6822	47/2273	chr1	TogoVar
ABCA5_chr17_69239311_69332133	69251761	C C	T T	synonymous_variant synonymous_variant	LOW	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0159 a0001c0017t0001g0159	1	350	0.0029	c.452 others(4): Show c.4521G>A	p.Val others(7): Show p.Val1507Val	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	35/39	4618/8252	4521/4929	1507/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69261140	C C	T T	synonymous_variant synonymous_variant	LOW	HG01123.hp2 HG01255.hp1 HG01515.hp1 others(4): Show HG01123.hp2 HG01255.hp1 HG01515.hp1 HG03688.hp1 HG03710.hp2 HG04184.hp1 NA20752.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0019 a0001c0008t0001 a0001c0008t0019	a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0051 others(4): Show a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0053 a0001c0008t0001g0078 a0001c0008t0001g0080 a0001c0008t0019g0082	7	350	0.0200	c.354 others(4): Show c.3549G>A	p.Leu others(7): Show p.Leu1183Leu	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	26/39	3646/8252	3549/4929	1183/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69261671	T T	C C	synonymous_variant synonymous_variant	LOW	HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show HG02615.hp1 HG02723.hp1 HG02896.hp1 HG03041.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0332 a0001c0010t0010g0333 a0001c0010t0010g0334 others(1): Show a0001c0010t0010g0332 a0001c0010t0010g0333 a0001c0010t0010g0334 a0001c0010t0010g0335	4	350	0.0114	c.339 others(4): Show c.3393A>G	p.Leu others(7): Show p.Leu1131Leu	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	25/39	3490/8252	3393/4929	1131/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69264785	A A	G G	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(116): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG02004.hp1 HG02027.hp1 HG02074.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18959.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18989.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp2 NA19089.hp1 NA20129.hp2 NA20752.hp1	a0001 a0010 a0011 a0001 a0010 a0011	a0001c0002 a0001c0006 a0001c0008 others(5): Show a0001c0002 a0001c0006 a0001c0008 a0001c0013 a0001c0017 a0001c0024 a0010c0015 a0011c0018	a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 others(11): Show a0001c0002t0001 a0001c0002t0012 a0001c0002t0013 a0001c0002t0020 a0001c0006t0001 a0001c0006t0007 a0001c0006t0018 a0001c0008t0001 a0001c0008t0019 a0001c0013t0002 a0001c0017t0001 a0001c0024t0001 a0010c0015t0001 a0011c0018t0001	a0001c0002t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0046 others(115): Show a0001c0002t0001g0002 a0001c0002t0001g0045 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0055 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0079 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0215 a0001c0002t0012g0010 a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0013g0052 a0001c0002t0013g0074 a0001c0002t0020g0123 a0001c0006t0001g0105 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0006t0007g0054 a0001c0006t0007g0106 a0001c0006t0007g0107 a0001c0006t0007g0108 a0001c0006t0018g0092 a0001c0008t0001g0049 a0001c0008t0001g0050 a0001c0008t0001g0051 a0001c0008t0001g0053 a0001c0008t0001g0078 a0001c0008t0001g0080 a0001c0008t0019g0082 a0001c0013t0002g0056 a0001c0017t0001g0159 a0001c0024t0001g0145 a0010c0015t0001g0072 a0011c0018t0001g0148	119	350	0.3400	c.326 others(4): Show c.3265T>C	p.Leu others(7): Show p.Leu1089Leu	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/39	3362/8252	3265/4929	1089/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69274068	A A	G G	synonymous_variant synonymous_variant	LOW	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0004 a0002c0016t0004	a0002c0016t0004g0180 a0002c0016t0004g0180	1	350	0.0029	c.265 others(4): Show c.2655T>C	p.Ser others(6): Show p.Ser885Ser	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	20/39	2752/8252	2655/4929	885/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69291217	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01168.hp2 HG01169.hp1 HG01433.hp2 others(6): Show HG01168.hp2 HG01169.hp1 HG01433.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18995.hp2 NA19057.hp2 NA19076.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0007 a0001c0006t0018 a0001c0006t0001 a0001c0006t0007 a0001c0006t0018	a0001c0006t0001g0105 a0001c0006t0001g0109 a0001c0006t0001g0110 others(6): Show a0001c0006t0001g0105 a0001c0006t0001g0109 a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0006t0007g0054 a0001c0006t0007g0106 a0001c0006t0007g0107 a0001c0006t0007g0108 a0001c0006t0018g0092	9	350	0.0257	c.160 others(4): Show c.1605T>C	p.Asp others(6): Show p.Asp535Asp	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	12/39	1702/8252	1605/4929	535/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69297196	G G	C C	synonymous_variant synonymous_variant	LOW	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0003 a0001c0022t0003	a0001c0022t0003g0315 a0001c0022t0003g0315	1	350	0.0029	c.143 others(4): Show c.1431C>G	p.Ala others(6): Show p.Ala477Ala	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	10/39	1528/8252	1431/4929	477/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69306793	G G	A A	synonymous_variant synonymous_variant	LOW	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0145 a0001c0024t0001g0145	1	350	0.0029	c.720 others(3): Show c.720C>T	p.Ile others(6): Show p.Ile240Ile	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	6/39	817/8252	720/4929	240/1642	chr17	TogoVar
ABCA5_chr17_69239311_69332133	69309347	A A	G G	synonymous_variant synonymous_variant	LOW	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0056 a0001c0013t0002g0056	1	350	0.0029	c.384 others(3): Show c.384T>C	p.Gly others(6): Show p.Gly128Gly	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	4/39	481/8252	384/4929	128/1642	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69083313	G G	A A	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(12): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01884.hp1 HG01891.hp2 HG02451.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp2 NA19030.hp1 NA19043.hp2 NA20129.hp1	a0003 a0006 a0003 a0006	a0003c0009 a0006c0007 a0006c0010 a0003c0009 a0006c0007 a0006c0010	a0003c0009t0001 a0006c0007t0001 a0006c0010t0001 a0003c0009t0001 a0006c0007t0001 a0006c0010t0001	a0003c0009t0001g0169 a0003c0009t0001g0170 a0003c0009t0001g0261 others(8): Show a0003c0009t0001g0169 a0003c0009t0001g0170 a0003c0009t0001g0261 a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0166 a0006c0007t0001g0167 a0006c0010t0001g0258 a0006c0010t0001g0259 a0006c0010t0001g0260	15	326	0.0460	c.437 others(4): Show c.4374C>T	p.Val others(7): Show p.Val1458Val	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	35/39	4570/5321	4374/4854	1458/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69086718	G G	A A	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02970.hp1 HG02145.hp2 HG02970.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0165 a0006c0013t0001g0249 a0006c0013t0001g0165 a0006c0013t0001g0249	2	326	0.0061	c.383 others(4): Show c.3837C>T	p.Ala others(7): Show p.Ala1279Ala	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	30/39	4033/5321	3837/4854	1279/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69091215	T T	C C	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01071.hp2 HG01106.hp1 others(6): Show HG01069.hp1 HG01071.hp2 HG01106.hp1 HG02647.hp1 HG02717.hp1 HG02922.hp1 HG03471.hp2 NA19043.hp2 NA20129.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 others(2): Show a0006c0007t0001g0008 a0006c0007t0001g0021 a0006c0007t0001g0022 a0006c0007t0001g0166 a0006c0007t0001g0167	9	326	0.0276	c.345 others(4): Show c.3456A>G	p.Leu others(7): Show p.Leu1152Leu	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	26/39	3652/5321	3456/4854	1152/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69096784	C C	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02970.hp1 HG02145.hp2 HG02970.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0165 a0006c0013t0001g0249 a0006c0013t0001g0165 a0006c0013t0001g0249	2	326	0.0061	c.313 others(4): Show c.3138G>A	p.Gln others(7): Show p.Gln1046Gln	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	24/39	3334/5321	3138/4854	1046/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69113352	A A	G G	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG01099.hp2 HG01109.hp1 others(34): Show HG00639.hp2 HG01099.hp2 HG01109.hp1 HG01361.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1 NA20300.hp1	a0003 a0006 a0016 others(3): Show a0003 a0006 a0016 a0017 a0018 a0024	a0003c0003 a0003c0009 a0006c0013 others(4): Show a0003c0003 a0003c0009 a0006c0013 a0016c0020 a0017c0022 a0018c0021 a0024c0029	a0003c0003t0001 a0003c0009t0001 a0006c0013t0001 others(4): Show a0003c0003t0001 a0003c0009t0001 a0006c0013t0001 a0016c0020t0001 a0017c0022t0001 a0018c0021t0001 a0024c0029t0001	a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0029 others(28): Show a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0272 a0003c0003t0001g0273 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0009t0001g0169 a0003c0009t0001g0170 a0003c0009t0001g0261 a0006c0013t0001g0165 a0006c0013t0001g0249 a0016c0020t0001g0266 a0017c0022t0001g0275 a0018c0021t0001g0274 a0024c0029t0001g0243	37	326	0.1135	c.191 others(4): Show c.1911T>C	p.Leu others(6): Show p.Leu637Leu	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	15/39	2107/5321	1911/4854	637/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69114822	C C	T T	synonymous_variant synonymous_variant	LOW	NA19082.hp1 NA19082.hp1	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0188 a0002c0019t0002g0188	1	326	0.0031	c.172 others(4): Show c.1722G>A	p.Lys others(6): Show p.Lys574Lys	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	13/39	1918/5321	1722/4854	574/1617	chr17	TogoVar
ABCA6_chr17_69073702_69146895	69136210	G G	A A	synonymous_variant synonymous_variant	LOW	HG03579.hp2 HG03579.hp2	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0001 a0006c0031t0001	a0006c0031t0001g0255 a0006c0031t0001g0255	1	326	0.0031	c.342 others(3): Show c.342C>T	p.Asp others(6): Show p.Asp114Asp	ABCA6	ENSG00000154262.13	transcript	ENST00000284425.7	protein_coding	4/39	538/5321	342/4854	114/1617	chr17	TogoVar
ABCA7_chr19_1035107_1070572	1041853	G G	T T	synonymous_variant synonymous_variant	LOW	HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2	a0003 a0005 a0006 others(1): Show a0003 a0005 a0006 a0007	a0003c0005 a0005c0022 a0006c0020 others(1): Show a0003c0005 a0005c0022 a0006c0020 a0007c0021	a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 others(1): Show a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001	a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 others(2): Show a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001	5	30	0.1667	c.183 others(3): Show c.183G>T	p.Leu others(5): Show p.Leu61Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	4/47	410/6815	183/6441	61/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1043184	C C	T T	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02451.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0004 a0005c0022t0001g0004	1	30	0.0333	c.723 others(3): Show c.723C>T	p.Tyr others(6): Show p.Tyr241Tyr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	8/47	950/6815	723/6441	241/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1047003	A A	G G	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp2 HG01071.hp1 others(17): Show HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0002c0011 a0003c0005 others(11): Show a0001c0001 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0006c0020 a0007c0021 a0012c0016 a0014c0019 a0015c0018 a0016c0014 a0017c0017 a0018c0015 a0019c0012	a0001c0001t0003 a0002c0011t0001 a0003c0005t0002 others(11): Show a0001c0001t0003 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001 a0012c0016t0001 a0014c0019t0002 a0015c0018t0001 a0016c0014t0002 a0017c0017t0001 a0018c0015t0001 a0019c0012t0001	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(17): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001 a0012c0016t0001g0024 a0014c0019t0002g0029 a0015c0018t0001g0028 a0016c0014t0002g0025 a0017c0017t0001g0027 a0018c0015t0001g0022 a0019c0012t0001g0026	20	30	0.6667	c.182 others(4): Show c.1824A>G	p.Ala others(6): Show p.Ala608Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	14/47	2051/6815	1824/6441	608/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1047162	A A	G G	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG00673.hp2 HG01071.hp1 others(18): Show HG00673.hp1 HG00673.hp2 HG01071.hp1 HG01071.hp2 HG02071.hp1 HG02071.hp2 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2 NA18970.hp1 NA18983.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019	a0001c0001 a0002c0011 a0003c0005 others(12): Show a0001c0001 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0006c0020 a0007c0021 a0012c0016 a0013c0013 a0014c0019 a0015c0018 a0016c0014 a0017c0017 a0018c0015 a0019c0012	a0001c0001t0003 a0002c0011t0001 a0003c0005t0002 others(12): Show a0001c0001t0003 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001 a0012c0016t0001 a0013c0013t0002 a0014c0019t0002 a0015c0018t0001 a0016c0014t0002 a0017c0017t0001 a0018c0015t0001 a0019c0012t0001	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(18): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001 a0012c0016t0001g0024 a0013c0013t0002g0030 a0014c0019t0002g0029 a0015c0018t0001g0028 a0016c0014t0002g0025 a0017c0017t0001g0027 a0018c0015t0001g0022 a0019c0012t0001g0026	21	30	0.7000	c.185 others(4): Show c.1851A>G	p.Gly others(6): Show p.Gly617Gly	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	15/47	2078/6815	1851/6441	617/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1047318	G G	A A	synonymous_variant synonymous_variant	LOW	NA18983.hp2 NA18983.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0006 a0008c0006t0002g0006	1	30	0.0333	c.200 others(4): Show c.2007G>A	p.Leu others(6): Show p.Leu669Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	15/47	2234/6815	2007/6441	669/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049270	G G	A A	synonymous_variant synonymous_variant	LOW	HG00673.hp2 HG01071.hp1 HG02071.hp2 others(8): Show HG00673.hp2 HG01071.hp1 HG02071.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02970.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1 NA20905.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0007 a0013 a0016	a0001c0001 a0003c0005 a0005c0022 others(3): Show a0001c0001 a0003c0005 a0005c0022 a0007c0021 a0013c0013 a0016c0014	a0001c0001t0003 a0003c0005t0002 a0005c0022t0001 others(3): Show a0001c0001t0003 a0003c0005t0002 a0005c0022t0001 a0007c0021t0001 a0013c0013t0002 a0016c0014t0002	a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(8): Show a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 a0007c0021t0001g0001 a0013c0013t0002g0030 a0016c0014t0002g0025	11	30	0.3667	c.238 others(4): Show c.2385G>A	p.Leu others(6): Show p.Leu795Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/47	2612/6815	2385/6441	795/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1049306	C C	A A	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG02145.hp1 NA18970.hp1 others(1): Show HG00673.hp1 HG02145.hp1 NA18970.hp1 NA18983.hp1	a0004 a0012 a0018 a0004 a0012 a0018	a0004c0004 a0012c0016 a0018c0015 a0004c0004 a0012c0016 a0018c0015	a0004c0004t0001 a0012c0016t0001 a0018c0015t0001 a0004c0004t0001 a0012c0016t0001 a0018c0015t0001	a0004c0004t0001g0021 a0004c0004t0001g0023 a0012c0016t0001g0024 others(1): Show a0004c0004t0001g0021 a0004c0004t0001g0023 a0012c0016t0001g0024 a0018c0015t0001g0022	4	30	0.1333	c.242 others(4): Show c.2421C>A	p.Val others(6): Show p.Val807Val	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	18/47	2648/6815	2421/6441	807/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051191	G G	C C	synonymous_variant synonymous_variant	LOW	NA19066.hp1 NA19066.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0002 a0016c0014t0002	a0016c0014t0002g0025 a0016c0014t0002g0025	1	30	0.0333	c.272 others(4): Show c.2721G>C	p.Arg others(6): Show p.Arg907Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	20/47	2948/6815	2721/6441	907/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051215	A A	G G	synonymous_variant synonymous_variant	LOW	HG01071.hp2 HG02071.hp1 HG02145.hp2 others(7): Show HG01071.hp2 HG02071.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02970.hp1 HG02970.hp2 HG03688.hp1 HG03688.hp2	a0003 a0005 a0006 others(6): Show a0003 a0005 a0006 a0007 a0010 a0014 a0015 a0017 a0019	a0003c0005 a0005c0022 a0006c0020 others(6): Show a0003c0005 a0005c0022 a0006c0020 a0007c0021 a0010c0010 a0014c0019 a0015c0018 a0017c0017 a0019c0012	a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 others(6): Show a0003c0005t0002 a0005c0022t0001 a0006c0020t0002 a0007c0021t0001 a0010c0010t0001 a0014c0019t0002 a0015c0018t0001 a0017c0017t0001 a0019c0012t0001	a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 others(7): Show a0003c0005t0002g0002 a0003c0005t0002g0003 a0005c0022t0001g0004 a0006c0020t0002g0020 a0007c0021t0001g0001 a0010c0010t0001g0013 a0014c0019t0002g0029 a0015c0018t0001g0028 a0017c0017t0001g0027 a0019c0012t0001g0026	10	30	0.3333	c.274 others(4): Show c.2745A>G	p.Val others(6): Show p.Val915Val	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	20/47	2972/6815	2745/6441	915/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1051489	G G	T T	synonymous_variant synonymous_variant	LOW	HG02723.hp1 HG02723.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0013 a0010c0010t0001g0013	1	30	0.0333	c.286 others(4): Show c.2865G>T	p.Val others(6): Show p.Val955Val	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	21/47	3092/6815	2865/6441	955/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1052006	C C	T T	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG02145.hp1 NA18970.hp1 others(6): Show HG00673.hp1 HG02145.hp1 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0012 others(2): Show a0002 a0004 a0012 a0013 a0018	a0002c0003 a0002c0009 a0002c0011 others(4): Show a0002c0003 a0002c0009 a0002c0011 a0004c0004 a0012c0016 a0013c0013 a0018c0015	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(4): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0004c0004t0001 a0012c0016t0001 a0013c0013t0002 a0018c0015t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(6): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0004c0004t0001g0021 a0004c0004t0001g0023 a0012c0016t0001g0024 a0013c0013t0002g0030 a0018c0015t0001g0022	9	30	0.3000	c.302 others(4): Show c.3027C>T	p.Ala others(7): Show p.Ala1009Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	22/47	3254/6815	3027/6441	1009/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1052087	G G	A A	synonymous_variant synonymous_variant	LOW	HG02723.hp1 HG02723.hp2 HG02723.hp1 HG02723.hp2	a0010 a0011 a0010 a0011	a0010c0010 a0011c0008 a0010c0010 a0011c0008	a0010c0010t0001 a0011c0008t0002 a0010c0010t0001 a0011c0008t0002	a0010c0010t0001g0013 a0011c0008t0002g0014 a0010c0010t0001g0013 a0011c0008t0002g0014	2	30	0.0667	c.310 others(4): Show c.3108G>A	p.Thr others(7): Show p.Thr1036Thr	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	22/47	3335/6815	3108/6441	1036/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1053525	C C	G G	synonymous_variant synonymous_variant	LOW	NA18983.hp2 NA19066.hp1 NA19079.hp2 others(3): Show NA18983.hp2 NA19066.hp1 NA19079.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0002 a0008 a0009 others(2): Show a0002 a0008 a0009 a0013 a0016	a0002c0003 a0008c0006 a0009c0007 others(2): Show a0002c0003 a0008c0006 a0009c0007 a0013c0013 a0016c0014	a0002c0003t0001 a0008c0006t0002 a0009c0007t0002 others(2): Show a0002c0003t0001 a0008c0006t0002 a0009c0007t0002 a0013c0013t0002 a0016c0014t0002	a0002c0003t0001g0007 a0002c0003t0001g0009 a0008c0006t0002g0006 others(3): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0008c0006t0002g0006 a0009c0007t0002g0005 a0013c0013t0002g0030 a0016c0014t0002g0025	6	30	0.2000	c.341 others(4): Show c.3417C>G	p.Leu others(7): Show p.Leu1139Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	24/47	3644/6815	3417/6441	1139/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1054061	A A	G G	synonymous_variant synonymous_variant	LOW	HG00673.hp1 HG02145.hp1 HG02145.hp2 others(12): Show HG00673.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG02970.hp1 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(7): Show a0002 a0003 a0004 a0005 a0007 a0010 a0011 a0012 a0013 a0018	a0002c0003 a0002c0009 a0002c0011 others(9): Show a0002c0003 a0002c0009 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0007c0021 a0010c0010 a0011c0008 a0012c0016 a0013c0013 a0018c0015	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(9): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0007c0021t0001 a0010c0010t0001 a0011c0008t0002 a0012c0016t0001 a0013c0013t0002 a0018c0015t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(12): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0007c0021t0001g0001 a0010c0010t0001g0013 a0011c0008t0002g0014 a0012c0016t0001g0024 a0013c0013t0002g0030 a0018c0015t0001g0022	15	30	0.5000	c.352 others(4): Show c.3528A>G	p.Leu others(7): Show p.Leu1176Leu	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	26/47	3755/6815	3528/6441	1176/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1056066	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00673.hp1 HG02145.hp1 HG02145.hp2 others(11): Show HG00673.hp1 HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02970.hp1 NA18970.hp1 NA18983.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(6): Show a0002 a0003 a0004 a0005 a0007 a0010 a0012 a0013 a0018	a0002c0003 a0002c0009 a0002c0011 others(8): Show a0002c0003 a0002c0009 a0002c0011 a0003c0005 a0004c0004 a0005c0022 a0007c0021 a0010c0010 a0012c0016 a0013c0013 a0018c0015	a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 others(8): Show a0002c0003t0001 a0002c0009t0001 a0002c0011t0001 a0003c0005t0002 a0004c0004t0001 a0005c0022t0001 a0007c0021t0001 a0010c0010t0001 a0012c0016t0001 a0013c0013t0002 a0018c0015t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(11): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 a0002c0011t0001g0012 a0003c0005t0002g0002 a0003c0005t0002g0003 a0004c0004t0001g0021 a0004c0004t0001g0023 a0005c0022t0001g0004 a0007c0021t0001g0001 a0010c0010t0001g0013 a0012c0016t0001g0024 a0013c0013t0002g0030 a0018c0015t0001g0022	14	30	0.4667	c.423 others(4): Show c.4239A>G	p.Arg others(7): Show p.Arg1413Arg	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	32/47	4466/6815	4239/6441	1413/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1056228	T T	C C	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02723.hp1 HG02451.hp2 HG02723.hp1	a0005 a0010 a0005 a0010	a0005c0022 a0010c0010 a0005c0022 a0010c0010	a0005c0022t0001 a0010c0010t0001 a0005c0022t0001 a0010c0010t0001	a0005c0022t0001g0004 a0010c0010t0001g0013 a0005c0022t0001g0004 a0010c0010t0001g0013	2	30	0.0667	c.440 others(4): Show c.4401T>C	p.Ala others(7): Show p.Ala1467Ala	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	32/47	4628/6815	4401/6441	1467/2146	chr19	TogoVar
ABCA7_chr19_1035107_1070572	1056422	G G	A A	synonymous_variant synonymous_variant	LOW	HG02451.hp2 HG02723.hp1 HG02451.hp2 HG02723.hp1	a0005 a0010 a0005 a0010	a0005c0022 a0010c0010 a0005c0022 a0010c0010	a0005c0022t0001 a0010c0010t0001 a0005c0022t0001 a0010c0010t0001	a0005c0022t0001g0004 a0010c0010t0001g0013 a0005c0022t0001g0004 a0010c0010t0001g0013	2	30	0.0667	c.450 others(4): Show c.4509G>A	p.Pro others(7): Show p.Pro1503Pro	ABCA7	ENSG00000064687.13	transcript	ENST00000263094.11	protein_coding	33/47	4736/6815	4509/6441	1503/2146	chr19	TogoVar

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