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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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	distance	chr	external
ABCA2_chr9_137002234_137033237	137032365	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0073 a0002c0026t0001g0073	1	320	0.0031	0	c.-42 others(5): Show c.-4225G>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4128	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032366	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	320	0.0031	0	c.-42 others(5): Show c.-4226C>G	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4129	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032367	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	320	0.0031	0	c.-42 others(5): Show c.-4227C>G	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4130	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032368	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	320	0.0031	0	c.-42 others(5): Show c.-4228C>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4131	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032370	A A	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	320	0.0031	0	c.-42 others(5): Show c.-4230T>G	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4133	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032371	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	320	0.0031	0	c.-42 others(5): Show c.-4231C>G	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4134	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032372	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	320	0.0031	0	c.-42 others(5): Show c.-4232C>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4135	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032459	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0155 a0001c0014t0003g0155	1	320	0.0031	0	c.-43 others(5): Show c.-4319C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4222	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032508	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(205): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.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 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03239.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.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18945.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0003 a0005 others(10): Show a0001 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(33): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0011 a0001c0012 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0027 a0001c0028 a0001c0033 a0001c0036 a0001c0037 a0001c0039 a0001c0040 a0001c0041 a0001c0046 a0001c0049 a0001c0050 a0001c0054 a0001c0058 a0003c0021 a0005c0031 a0007c0043 a0008c0042 a0009c0032 a0010c0038 a0011c0034 a0013c0047 a0014c0030 a0015c0029 a0016c0052 a0017c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0007t0001 a0001c0007t0004 a0001c0011t0001 a0001c0012t0001 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0003 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0036t0002 a0001c0037t0001 a0001c0039t0002 a0001c0040t0001 a0001c0041t0005 a0001c0046t0001 a0001c0049t0005 a0001c0050t0001 a0001c0054t0002 a0001c0058t0003 a0003c0021t0001 a0005c0031t0002 a0007c0043t0001 a0008c0042t0001 a0009c0032t0001 a0010c0038t0001 a0011c0034t0001 a0013c0047t0001 a0014c0030t0001 a0015c0029t0001 a0016c0052t0001 a0017c0057t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(129): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0004g0032 a0001c0002t0001g0138 a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0033 a0001c0002t0002g0046 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0137 a0001c0002t0002g0179 a0001c0002t0003g0043 a0001c0002t0003g0123 a0001c0003t0001g0015 a0001c0003t0001g0041 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0007t0001g0036 a0001c0007t0001g0122 a0001c0007t0004g0050 a0001c0011t0001g0014 a0001c0012t0001g0016 a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0017t0001g0108 a0001c0017t0001g0119 a0001c0018t0001g0034 a0001c0019t0001g0040 a0001c0020t0003g0045 a0001c0027t0001g0083 a0001c0028t0001g0084 a0001c0033t0001g0149 a0001c0036t0002g0049 a0001c0037t0001g0131 a0001c0039t0002g0109 a0001c0040t0001g0164 a0001c0041t0005g0139 a0001c0046t0001g0071 a0001c0049t0005g0148 a0001c0050t0001g0115 a0001c0054t0002g0154 a0001c0058t0003g0197 a0003c0021t0001g0140 a0005c0031t0002g0117 a0007c0043t0001g0141 a0008c0042t0001g0165 a0009c0032t0001g0193 a0010c0038t0001g0133 a0011c0034t0001g0124 a0013c0047t0001g0166 a0014c0030t0001g0068 a0015c0029t0001g0145 a0016c0052t0001g0168 a0017c0057t0001g0196	208	320	0.6500	0	c.-43 others(5): Show c.-4368G>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4271	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032610	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(240): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 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 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.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 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 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 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 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.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.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.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 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.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19083.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0002 a0001c0003 others(44): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0001c0023 a0001c0025 a0001c0027 a0001c0028 a0001c0033 a0001c0036 a0001c0037 a0001c0039 a0001c0040 a0001c0041 a0001c0046 a0001c0049 a0001c0050 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0058 a0002c0004 a0003c0021 a0003c0024 a0005c0031 a0007c0043 a0008c0042 a0009c0032 a0010c0038 a0011c0034 a0013c0047 a0014c0030 a0015c0029 a0016c0052 a0017c0057	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0006t0003 a0001c0007t0001 a0001c0007t0004 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0014t0003 a0001c0014t0004 a0001c0015t0003 a0001c0016t0001 a0001c0017t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0003 a0001c0023t0003 a0001c0023t0005 a0001c0025t0002 a0001c0027t0001 a0001c0028t0001 a0001c0033t0001 a0001c0036t0002 a0001c0037t0001 a0001c0039t0002 a0001c0040t0001 a0001c0041t0005 a0001c0046t0001 a0001c0049t0005 a0001c0050t0001 a0001c0053t0001 a0001c0054t0002 a0001c0055t0005 a0001c0056t0001 a0001c0058t0003 a0002c0004t0001 a0003c0021t0001 a0003c0024t0001 a0005c0031t0002 a0007c0043t0001 a0008c0042t0001 a0009c0032t0001 a0010c0038t0001 a0011c0034t0001 a0013c0047t0001 a0014c0030t0001 a0015c0029t0001 a0016c0052t0001 a0017c0057t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(158): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0004g0032 a0001c0002t0001g0138 a0001c0002t0002g0004 a0001c0002t0002g0013 a0001c0002t0002g0033 a0001c0002t0002g0046 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0107 a0001c0002t0002g0114 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0137 a0001c0002t0002g0179 a0001c0002t0003g0043 a0001c0002t0003g0123 a0001c0003t0001g0015 a0001c0003t0001g0041 a0001c0003t0001g0054 a0001c0003t0001g0135 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0006t0003g0171 a0001c0006t0003g0172 a0001c0006t0003g0173 a0001c0006t0003g0174 a0001c0006t0003g0175 a0001c0006t0003g0178 a0001c0007t0001g0036 a0001c0007t0001g0122 a0001c0007t0004g0050 a0001c0009t0001g0018 a0001c0009t0001g0052 a0001c0009t0001g0055 a0001c0011t0001g0014 a0001c0012t0001g0016 a0001c0014t0003g0155 a0001c0014t0003g0162 a0001c0014t0004g0158 a0001c0015t0003g0062 a0001c0015t0003g0063 a0001c0015t0003g0064 a0001c0016t0001g0176 a0001c0016t0001g0177 a0001c0017t0001g0108 a0001c0017t0001g0119 a0001c0018t0001g0034 a0001c0019t0001g0040 a0001c0020t0003g0045 a0001c0023t0003g0157 a0001c0023t0005g0156 a0001c0025t0002g0020 a0001c0027t0001g0083 a0001c0028t0001g0084 a0001c0033t0001g0149 a0001c0036t0002g0049 a0001c0037t0001g0131 a0001c0039t0002g0109 a0001c0040t0001g0164 a0001c0041t0005g0139 a0001c0046t0001g0071 a0001c0049t0005g0148 a0001c0050t0001g0115 a0001c0053t0001g0056 a0001c0054t0002g0154 a0001c0055t0005g0161 a0001c0056t0001g0186 a0001c0058t0003g0197 a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0003c0021t0001g0140 a0003c0024t0001g0053 a0003c0024t0001g0057 a0005c0031t0002g0117 a0007c0043t0001g0141 a0008c0042t0001g0165 a0009c0032t0001g0193 a0010c0038t0001g0133 a0011c0034t0001g0124 a0013c0047t0001g0166 a0014c0030t0001g0068 a0015c0029t0001g0145 a0016c0052t0001g0168 a0017c0057t0001g0196	243	320	0.7594	0	c.-44 others(5): Show c.-4470T>C	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4373	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032730	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00741.hp2 HG01099.hp2 others(6): Show HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 others(2): Show a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185	9	320	0.0281	0	c.-45 others(5): Show c.-4590C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4493	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032754	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	320	0.0031	0	c.-46 others(5): Show c.-4614C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4517	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137032934	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	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	0	c.-47 others(5): Show c.-4794G>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4697	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033043	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0058 a0001c0058	a0001c0058t0003 a0001c0058t0003	a0001c0058t0003g0197 a0001c0058t0003g0197	1	320	0.0031	0	c.-49 others(5): Show c.-4903A>G	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4806	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033074	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0054 a0001c0054	a0001c0054t0002 a0001c0054t0002	a0001c0054t0002g0154 a0001c0054t0002g0154	1	320	0.0031	0	c.-49 others(5): Show c.-4934C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4837	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033082	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0003 a0001c0020t0003	a0001c0020t0003g0045 a0001c0020t0003g0045	1	320	0.0031	0	c.-49 others(5): Show c.-4942G>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4845	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033093	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0088 a0001c0002t0002g0088	1	320	0.0031	0	c.-49 others(5): Show c.-4953C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4856	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033113	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	320	0.0031	0	c.-49 others(5): Show c.-4973G>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4876	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033172	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	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	0	c.-50 others(5): Show c.-5032G>A	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4935	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033195	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18953.hp2 NA19011.hp1 NA18945.hp1 NA18953.hp2 NA19011.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0054 a0001c0009t0001g0018 a0001c0003t0001g0054 a0001c0009t0001g0018	3	320	0.0094	0	c.-50 others(5): Show c.-5055C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4958	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137033208	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18970.hp1 NA18974.hp1 others(5): Show NA18950.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18983.hp1 NA19002.hp1 NA19012.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0067	8	320	0.0250	0	c.-50 others(5): Show c.-5068C>T	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	4971	chr9	TogoVar
ABCA3_chr16_2270881_2345728	2340745	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(22): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp2 HG01928.hp2 HG01952.hp2 HG02056.hp1 HG02132.hp1 HG02523.hp1 HG02523.hp2 NA18948.hp1 NA18953.hp1 NA18960.hp1 NA18966.hp2 NA18978.hp2 NA19004.hp2 NA19058.hp2 NA19064.hp1 NA19085.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0010c0027	a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 others(1): Show a0001c0001t0003 a0001c0002t0003 a0001c0003t0003 a0010c0027t0003	a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0012 others(22): Show a0001c0001t0003g0009 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0015 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0017 a0001c0002t0003g0019 a0001c0002t0003g0022 a0001c0002t0003g0023 a0001c0002t0003g0028 a0001c0002t0003g0031 a0001c0003t0003g0010 a0010c0027t0003g0018	25	252	0.0992	0	c.-71 others(4): Show c.-711C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	17	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2340764	G G	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	252	0.0040	0	c.-73 others(4): Show c.-730C>A	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	36	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2340767	C C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	252	0.0040	0	c.-73 others(4): Show c.-733G>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	39	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2340865	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0049 a0001c0009t0001g0049	1	252	0.0040	0	c.-83 others(4): Show c.-831C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	137	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341030	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0042 a0001c0005t0001g0042	1	252	0.0040	0	c.-99 others(4): Show c.-996T>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	302	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341056	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01943.hp2 HG01496.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0034 a0001c0001t0001g0035	2	252	0.0079	0	c.-10 others(5): Show c.-1022C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	328	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341061	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	252	0.0040	0	c.-10 others(5): Show c.-1027C>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	333	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341267	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0150 a0002c0010t0001g0155 a0002c0010t0001g0150 a0002c0010t0001g0155	2	252	0.0079	0	c.-12 others(5): Show c.-1233C>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	539	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341307	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA19030.hp2 HG02809.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0005t0006g0038 a0001c0005t0006g0039	2	252	0.0079	0	c.-12 others(5): Show c.-1273C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	579	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341353	GCCTCGGG others(3): Show GCCTCGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(36): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02698.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0002t0001 a0001c0003t0002 a0001c0004t0001 a0001c0005t0006 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(36): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0002t0001g0141 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	39	252	0.1548	-10	c.-13 others(21): Show c.-1329_-1320delACCCCCGAGG	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	626	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341363	T T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02622.hp2 others(3): Show HG01109.hp1 HG01261.hp2 HG02622.hp2 HG03516.hp1 NA18522.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 others(3): Show a0001c0001t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0159 a0001c0003t0001g0160 a0001c0003t0001g0226	6	252	0.0238	0	c.-13 others(5): Show c.-1329A>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	635	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341385	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(31): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0019 others(3): Show a0001c0001 a0001c0003 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(31): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	34	252	0.1349	0	c.-13 others(5): Show c.-1351G>A	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	657	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341498	T T	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 NA19030.hp2 HG02809.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0005t0006g0038 a0001c0005t0006g0039	2	252	0.0079	0	c.-14 others(5): Show c.-1464A>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	770	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341555	T T	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(53): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0009	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0019 a0001c0026 a0004c0015 a0006c0022 a0009c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0002t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0005t0006 a0001c0006t0004 a0001c0009t0001 a0001c0019t0002 a0001c0026t0002 a0004c0015t0001 a0006c0022t0002 a0009c0021t0002	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0191 others(53): Show a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0001t0014g0249 a0001c0002t0001g0187 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0003t0004g0003 a0001c0004t0001g0223 a0001c0005t0001g0042 a0001c0005t0001g0048 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0006g0038 a0001c0005t0006g0039 a0001c0006t0004g0004 a0001c0006t0004g0005 a0001c0006t0004g0007 a0001c0009t0001g0047 a0001c0009t0001g0049 a0001c0019t0002g0221 a0001c0026t0002g0208 a0004c0015t0001g0186 a0006c0022t0002g0203 a0009c0021t0002g0210	56	252	0.2222	0	c.-15 others(5): Show c.-1521A>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	827	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341579	G G	GGGTCCGG others(59): Show GGGTCCGGAGAGGGTCGGGGTCACCTGAGGAGGTGGTCCGGAGAGGGTCG GGGTCACCTGAGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	252	0.0040	66	c.-15 others(77): Show c.-1546_-1545insACCTCCTCAGGTGACCCCGACCCTCTCCGGACCA CCTCCTCAGGTGACCCCGACCCTCTCCGGACC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	852	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341579	GGGTCCGG others(26): Show GGGTCCGGAGAGGGTCGGGGTCACCTGAGGAGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0186 a0004c0015t0001g0186	1	252	0.0040	-33	c.-15 others(44): Show c.-1578_-1546delACCTCCTCAGGTGACCCCGACCCTCTCCGGACC	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	852	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341603	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	252	0.0040	0	c.-15 others(5): Show c.-1569G>A	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	875	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341611	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(33): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(33): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	36	252	0.1429	0	c.-15 others(5): Show c.-1577C>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	883	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341620	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(33): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(33): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	36	252	0.1429	0	c.-15 others(5): Show c.-1586T>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	892	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341645	C C	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	252	0.0040	0	c.-16 others(5): Show c.-1611G>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	917	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341712	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02717.hp1 HG03041.hp1 others(3): Show HG02280.hp1 HG02717.hp1 HG03041.hp1 HG03453.hp2 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0004 a0001c0003t0004 a0001c0006t0004 a0001c0001t0004 a0001c0003t0004 a0001c0006t0004	a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0003t0004g0003 a0001c0006t0004g0004 a0001c0006t0004g0005 a0001c0006t0004g0007	6	252	0.0238	0	c.-16 others(5): Show c.-1678T>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	984	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341805	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0049 a0001c0009t0001g0049	1	252	0.0040	0	c.-17 others(5): Show c.-1771C>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1077	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341895	C C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0223 a0001c0004t0001g0223	1	252	0.0040	0	c.-18 others(5): Show c.-1861G>A	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1167	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341934	C C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	252	0.0040	0	c.-19 others(5): Show c.-1900G>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1206	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341947	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	252	0.0040	0	c.-19 others(5): Show c.-1913C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1219	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341959	A A	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(31): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0019 others(3): Show a0001c0001 a0001c0003 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0003t0002 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(31): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	34	252	0.1349	0	c.-19 others(5): Show c.-1925T>C	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1231	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2341998	G G	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	252	0.0040	0	c.-19 others(5): Show c.-1964C>T	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1270	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2342030	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(34): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(34): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0004g0008 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	37	252	0.1468	0	c.-19 others(5): Show c.-1996C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1302	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2342038	G G	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01243.hp2 others(34): Show HG00639.hp2 HG01071.hp1 HG01243.hp2 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp2	a0001 a0006 a0009 a0001 a0006 a0009	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0019 a0001c0026 a0006c0022 a0009c0021	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0003t0002 a0001c0004t0001 a0001c0019t0002 a0001c0026t0002 a0006c0022t0002 a0009c0021t0002	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 others(34): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0004g0008 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0010g0224 a0001c0003t0002g0190 a0001c0003t0002g0201 a0001c0003t0002g0202 a0001c0003t0002g0204 a0001c0003t0002g0205 a0001c0003t0002g0209 a0001c0003t0002g0218 a0001c0004t0001g0223 a0001c0019t0002g0221 a0001c0026t0002g0208 a0006c0022t0002g0203 a0009c0021t0002g0210	37	252	0.1468	0	c.-20 others(5): Show c.-2004C>G	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	1310	chr16	TogoVar

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