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
ABCA1_chr9_104776006_104933155	104858586	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00423.hp1 HG00423.hp2 others(168): Show HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18941.hp1 NA18942.hp2 NA18949.hp2 NA18953.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18978.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp2 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19043.hp1 NA19060.hp1 NA19066.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0002 a0003 a0005 others(17): Show a0002 a0003 a0005 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0038	a0002c0011 a0002c0015 a0002c0017 others(63): Show a0002c0011 a0002c0015 a0002c0017 a0002c0024 a0002c0025 a0002c0031 a0002c0032 a0002c0033 a0002c0037 a0002c0046 a0002c0057 a0002c0058 a0002c0059 a0002c0074 a0002c0075 a0002c0078 a0002c0081 a0002c0085 a0003c0002 a0003c0009 a0003c0038 a0003c0056 a0003c0076 a0003c0077 a0005c0014 a0005c0016 a0005c0022 a0005c0026 a0005c0036 a0005c0039 a0005c0051 a0005c0052 a0005c0070 a0005c0071 a0005c0082 a0005c0084 a0008c0006 a0008c0047 a0008c0048 a0008c0049 a0008c0069 a0009c0018 a0009c0021 a0009c0027 a0009c0028 a0010c0007 a0010c0030 a0011c0010 a0011c0055 a0013c0013 a0014c0023 a0014c0053 a0014c0054 a0015c0020 a0015c0061 a0016c0019 a0017c0034 a0018c0079 a0018c0080 a0020c0045 a0021c0060 a0022c0050 a0023c0072 a0024c0073 a0025c0083 a0038c0068	a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 others(117): Show a0002c0011t0004 a0002c0011t0007 a0002c0011t0012 a0002c0011t0020 a0002c0015t0002 a0002c0015t0004 a0002c0015t0013 a0002c0015t0031 a0002c0017t0002 a0002c0017t0015 a0002c0017t0026 a0002c0024t0008 a0002c0025t0007 a0002c0025t0008 a0002c0025t0015 a0002c0031t0001 a0002c0032t0001 a0002c0033t0002 a0002c0033t0032 a0002c0037t0001 a0002c0037t0011 a0002c0046t0002 a0002c0057t0001 a0002c0058t0007 a0002c0059t0001 a0002c0074t0027 a0002c0075t0027 a0002c0078t0001 a0002c0081t0013 a0002c0085t0008 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0010 a0003c0002t0014 a0003c0002t0028 a0003c0002t0050 a0003c0009t0001 a0003c0009t0003 a0003c0009t0006 a0003c0009t0046 a0003c0009t0051 a0003c0038t0003 a0003c0038t0005 a0003c0056t0001 a0003c0076t0002 a0003c0077t0005 a0005c0014t0003 a0005c0014t0005 a0005c0014t0006 a0005c0014t0011 a0005c0016t0001 a0005c0016t0011 a0005c0022t0002 a0005c0022t0021 a0005c0026t0004 a0005c0026t0009 a0005c0026t0024 a0005c0036t0001 a0005c0039t0017 a0005c0051t0019 a0005c0052t0001 a0005c0070t0001 a0005c0071t0041 a0005c0082t0002 a0005c0084t0014 a0008c0006t0001 a0008c0006t0003 a0008c0006t0005 a0008c0006t0006 a0008c0006t0007 a0008c0006t0012 a0008c0006t0014 a0008c0006t0015 a0008c0006t0022 a0008c0006t0047 a0008c0047t0002 a0008c0048t0030 a0008c0049t0004 a0008c0069t0008 a0009c0018t0003 a0009c0018t0004 a0009c0018t0038 a0009c0021t0001 a0009c0021t0004 a0009c0027t0004 a0009c0027t0006 a0009c0028t0009 a0009c0028t0048 a0010c0007t0002 a0010c0007t0003 a0010c0007t0010 a0010c0030t0001 a0010c0030t0022 a0011c0010t0005 a0011c0010t0037 a0011c0055t0001 a0013c0013t0002 a0013c0013t0003 a0013c0013t0025 a0014c0023t0007 a0014c0023t0017 a0014c0023t0036 a0014c0053t0002 a0014c0054t0010 a0015c0020t0001 a0015c0020t0004 a0015c0061t0001 a0016c0019t0006 a0016c0019t0018 a0017c0034t0001 a0018c0079t0004 a0018c0080t0004 a0020c0045t0002 a0021c0060t0001 a0022c0050t0001 a0023c0072t0001 a0024c0073t0019 a0025c0083t0001 a0038c0068t0044	a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 others(168): Show a0002c0011t0004g0112 a0002c0011t0004g0213 a0002c0011t0004g0263 a0002c0011t0007g0119 a0002c0011t0007g0247 a0002c0011t0012g0134 a0002c0011t0020g0171 a0002c0015t0002g0315 a0002c0015t0004g0004 a0002c0015t0013g0305 a0002c0015t0013g0306 a0002c0015t0031g0084 a0002c0017t0002g0271 a0002c0017t0015g0101 a0002c0017t0026g0163 a0002c0017t0026g0276 a0002c0024t0008g0003 a0002c0024t0008g0008 a0002c0024t0008g0109 a0002c0025t0007g0237 a0002c0025t0008g0285 a0002c0025t0015g0283 a0002c0031t0001g0152 a0002c0031t0001g0278 a0002c0032t0001g0025 a0002c0032t0001g0317 a0002c0033t0002g0301 a0002c0033t0032g0024 a0002c0037t0001g0275 a0002c0037t0011g0116 a0002c0046t0002g0154 a0002c0057t0001g0148 a0002c0058t0007g0143 a0002c0059t0001g0235 a0002c0074t0027g0290 a0002c0075t0027g0150 a0002c0078t0001g0216 a0002c0081t0013g0277 a0002c0085t0008g0142 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0122 a0003c0002t0002g0126 a0003c0002t0002g0172 a0003c0002t0002g0184 a0003c0002t0002g0205 a0003c0002t0002g0257 a0003c0002t0003g0127 a0003c0002t0007g0059 a0003c0002t0010g0270 a0003c0002t0014g0066 a0003c0002t0028g0261 a0003c0002t0050g0068 a0003c0009t0001g0279 a0003c0009t0003g0073 a0003c0009t0003g0138 a0003c0009t0003g0178 a0003c0009t0003g0209 a0003c0009t0006g0186 a0003c0009t0046g0219 a0003c0009t0051g0145 a0003c0038t0003g0293 a0003c0038t0005g0307 a0003c0056t0001g0288 a0003c0076t0002g0130 a0003c0077t0005g0312 a0005c0014t0003g0173 a0005c0014t0003g0243 a0005c0014t0005g0245 a0005c0014t0006g0052 a0005c0014t0011g0222 a0005c0016t0001g0009 a0005c0016t0001g0010 a0005c0016t0001g0049 a0005c0016t0011g0075 a0005c0022t0002g0284 a0005c0022t0021g0141 a0005c0022t0021g0147 a0005c0026t0004g0042 a0005c0026t0009g0076 a0005c0026t0024g0157 a0005c0036t0001g0091 a0005c0036t0001g0273 a0005c0039t0017g0018 a0005c0039t0017g0019 a0005c0051t0019g0164 a0005c0052t0001g0281 a0005c0070t0001g0316 a0005c0071t0041g0311 a0005c0082t0002g0282 a0005c0084t0014g0215 a0008c0006t0001g0087 a0008c0006t0003g0187 a0008c0006t0005g0063 a0008c0006t0006g0057 a0008c0006t0007g0111 a0008c0006t0012g0081 a0008c0006t0014g0221 a0008c0006t0015g0095 a0008c0006t0022g0135 a0008c0006t0047g0056 a0008c0047t0002g0244 a0008c0048t0030g0022 a0008c0049t0004g0103 a0008c0069t0008g0096 a0009c0018t0003g0248 a0009c0018t0003g0253 a0009c0018t0004g0292 a0009c0018t0038g0228 a0009c0021t0001g0174 a0009c0021t0001g0189 a0009c0021t0004g0204 a0009c0027t0004g0124 a0009c0027t0006g0224 a0009c0027t0006g0267 a0009c0028t0009g0092 a0009c0028t0009g0093 a0009c0028t0048g0241 a0010c0007t0002g0012 a0010c0007t0002g0013 a0010c0007t0002g0015 a0010c0007t0002g0125 a0010c0007t0003g0149 a0010c0007t0010g0139 a0010c0007t0010g0185 a0010c0007t0010g0200 a0010c0007t0010g0201 a0010c0030t0001g0053 a0010c0030t0022g0191 a0011c0010t0005g0097 a0011c0010t0005g0169 a0011c0010t0005g0255 a0011c0010t0005g0258 a0011c0010t0005g0286 a0011c0010t0005g0287 a0011c0010t0037g0181 a0011c0055t0001g0259 a0013c0013t0002g0262 a0013c0013t0003g0120 a0013c0013t0003g0207 a0013c0013t0003g0256 a0013c0013t0025g0032 a0013c0013t0025g0033 a0014c0023t0007g0115 a0014c0023t0017g0105 a0014c0023t0036g0104 a0014c0053t0002g0146 a0014c0054t0010g0251 a0015c0020t0001g0006 a0015c0020t0001g0160 a0015c0020t0004g0005 a0015c0061t0001g0080 a0016c0019t0006g0250 a0016c0019t0018g0117 a0016c0019t0018g0131 a0016c0019t0018g0177 a0017c0034t0001g0153 a0017c0034t0001g0300 a0018c0079t0004g0314 a0018c0080t0004g0107 a0020c0045t0002g0299 a0021c0060t0001g0078 a0022c0050t0001g0166 a0023c0072t0001g0309 a0024c0073t0019g0231 a0025c0083t0001g0313 a0038c0068t0044g0272	171	318	0.5377	c.656 others(3): Show c.656G>A	p.Arg others(6): Show p.Arg219Lys	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	7/50	969/10408	656/6786	219/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104858608	A A	T T	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0038 a0038	a0038c0068 a0038c0068	a0038c0068t0044 a0038c0068t0044	a0038c0068t0044g0272 a0038c0068t0044g0272	1	318	0.0031	c.634 others(3): Show c.634T>A	p.Ser others(6): Show p.Ser212Thr	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	7/50	947/10408	634/6786	212/2261	chr9	TogoVar
ABCA1_chr9_104776006_104933155	104858680	G G	T T	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0020 a0020	a0020c0045 a0020c0045	a0020c0045t0002 a0020c0045t0002	a0020c0045t0002g0299 a0020c0045t0002g0299	1	318	0.0031	c.562 others(3): Show c.562C>A	p.Gln others(6): Show p.Gln188Lys	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	7/50	875/10408	562/6786	188/2261	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008487	C C	T T	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0010 a0010	a0010c0038 a0010c0038	a0010c0038t0001 a0010c0038t0001	a0010c0038t0001g0133 a0010c0038t0001g0133	1	320	0.0031	c.720 others(4): Show c.7204G>A	p.Ala others(7): Show p.Ala2402Thr	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	48/49	7301/8103	7204/7311	2402/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137008516	C C	T T	missense_variant missense_variant	MODERATE	HG02080.hp1 HG02080.hp1	a0009 a0009	a0009c0032 a0009c0032	a0009c0032t0001 a0009c0032t0001	a0009c0032t0001g0193 a0009c0032t0001g0193	1	320	0.0031	c.717 others(4): Show c.7175G>A	p.Arg others(7): Show p.Arg2392Gln	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	48/49	7272/8103	7175/7311	2392/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137012767	C C	T T	missense_variant missense_variant	MODERATE	NA18939.hp2 NA18939.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0001 a0011c0034t0001	a0011c0034t0001g0124 a0011c0034t0001g0124	1	320	0.0031	c.502 others(4): Show c.5026G>A	p.Gly others(7): Show p.Gly1676Ser	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	31/49	5123/8103	5026/7311	1676/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014012	C C	A A	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01496.hp1 HG01978.hp1 others(1): Show HG01168.hp2 HG01496.hp1 HG01978.hp1 HG02004.hp1	a0003 a0003	a0003c0021 a0003c0024 a0003c0021 a0003c0024	a0003c0021t0001 a0003c0024t0001 a0003c0021t0001 a0003c0024t0001	a0003c0021t0001g0079 a0003c0021t0001g0140 a0003c0024t0001g0053 others(1): Show a0003c0021t0001g0079 a0003c0021t0001g0140 a0003c0024t0001g0053 a0003c0024t0001g0057	4	320	0.0125	c.426 others(4): Show c.4267G>T	p.Val others(7): Show p.Val1423Phe	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	28/49	4364/8103	4267/7311	1423/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014216	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0008 a0008	a0008c0042 a0008c0042	a0008c0042t0001 a0008c0042t0001	a0008c0042t0001g0165 a0008c0042t0001g0165	1	320	0.0031	c.419 others(4): Show c.4192C>T	p.Arg others(7): Show p.Arg1398Cys	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	27/49	4289/8103	4192/7311	1398/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014227	T T	C C	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0007 a0007	a0007c0043 a0007c0043	a0007c0043t0001 a0007c0043t0001	a0007c0043t0001g0141 a0007c0043t0001g0141	1	320	0.0031	c.418 others(4): Show c.4181A>G	p.Tyr others(7): Show p.Tyr1394Cys	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	27/49	4278/8103	4181/7311	1394/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137014928	G G	C C	missense_variant missense_variant	MODERATE	HG01975.hp1 HG01975.hp1	a0012 a0012	a0012c0044 a0012c0044	a0012c0044t0001 a0012c0044t0001	a0012c0044t0001g0099 a0012c0044t0001g0099	1	320	0.0031	c.386 others(4): Show c.3867C>G	p.Phe others(7): Show p.Phe1289Leu	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	25/49	3964/8103	3867/7311	1289/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137016067	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp2 HG01934.hp2	a0006 a0006	a0006c0045 a0006c0045	a0006c0045t0002 a0006c0045t0002	a0006c0045t0002g0100 a0006c0045t0002g0100	1	320	0.0031	c.321 others(4): Show c.3212C>T	p.Pro others(7): Show p.Pro1071Leu	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	22/49	3309/8103	3212/7311	1071/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137016579	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0002 a0005c0031t0002	a0005c0031t0002g0117 a0005c0031t0002g0117	1	320	0.0031	c.291 others(4): Show c.2918G>A	p.Arg others(6): Show p.Arg973His	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	20/49	3015/8103	2918/7311	973/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017048	T T	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02258.hp2	a0013 a0013	a0013c0047 a0013c0047	a0013c0047t0001 a0013c0047t0001	a0013c0047t0001g0166 a0013c0047t0001g0166	1	320	0.0031	c.263 others(4): Show c.2630A>G	p.Gln others(6): Show p.Gln877Arg	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	19/49	2727/8103	2630/7311	877/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137017219	T T	C C	missense_variant missense_variant	MODERATE	NA19083.hp1 NA19083.hp1	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0001 a0014c0030t0001	a0014c0030t0001g0068 a0014c0030t0001g0068	1	320	0.0031	c.253 others(4): Show c.2530A>G	p.Thr others(6): Show p.Thr844Ala	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	18/49	2627/8103	2530/7311	844/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137018052	C C	T T	missense_variant missense_variant	MODERATE	NA18954.hp1 NA19083.hp1 NA18954.hp1 NA19083.hp1	a0014 a0015 a0014 a0015	a0014c0030 a0015c0029 a0014c0030 a0015c0029	a0014c0030t0001 a0015c0029t0001 a0014c0030t0001 a0015c0029t0001	a0014c0030t0001g0068 a0015c0029t0001g0145 a0014c0030t0001g0068 a0015c0029t0001g0145	2	320	0.0063	c.201 others(4): Show c.2017G>A	p.Asp others(6): Show p.Asp673Asn	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	15/49	2114/8103	2017/7311	673/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137021898	C C	T T	missense_variant missense_variant	MODERATE	NA18951.hp1 NA18970.hp2 NA19000.hp2 NA18951.hp1 NA18970.hp2 NA19000.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0024 a0004c0010t0001g0082 a0004c0010t0001g0024 a0004c0010t0001g0082	3	320	0.0094	c.671 others(3): Show c.671G>A	p.Arg others(6): Show p.Arg224Gln	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	7/49	768/8103	671/7311	224/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137021943	T T	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp1	a0016 a0016	a0016c0052 a0016c0052	a0016c0052t0001 a0016c0052t0001	a0016c0052t0001g0168 a0016c0052t0001g0168	1	320	0.0031	c.626 others(3): Show c.626A>T	p.Lys others(6): Show p.Lys209Met	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	7/49	723/8103	626/7311	209/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022427	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00741.hp2 HG01099.hp2 others(7): Show HG00735.hp1 HG00741.hp2 HG01099.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG04204.hp1	a0002 a0002	a0002c0004 a0002c0026 a0002c0004 a0002c0026	a0002c0004t0001 a0002c0026t0001 a0002c0004t0001 a0002c0026t0001	a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 others(3): Show a0002c0004t0001g0007 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0026t0001g0073	10	320	0.0313	c.491 others(3): Show c.491G>A	p.Arg others(6): Show p.Arg164His	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	6/49	588/8103	491/7311	164/2436	chr9	TogoVar
ABCA2_chr9_137002234_137033237	137022743	G G	A A	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0017 a0017	a0017c0057 a0017c0057	a0017c0057t0001 a0017c0057t0001	a0017c0057t0001g0196 a0017c0057t0001g0196	1	320	0.0031	c.398 others(3): Show c.398C>T	p.Ala others(6): Show p.Ala133Val	ABCA2	ENSG00000107331.18	transcript	ENST00000341511.11	protein_coding	5/49	495/8103	398/7311	133/2436	chr9	TogoVar
ABCA3_chr16_2270881_2345728	2276766	C C	T T	missense_variant missense_variant	MODERATE	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0150 a0002c0010t0001g0155 a0002c0010t0001g0150 a0002c0010t0001g0155	2	252	0.0079	c.502 others(4): Show c.5023G>A	p.Val others(7): Show p.Val1675Met	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	33/33	5717/6602	5023/5115	1675/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2285641	C C	T T	missense_variant missense_variant	MODERATE	NA19002.hp2 NA19002.hp2	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0001 a0008c0017t0001	a0008c0017t0001g0123 a0008c0017t0001g0123	1	252	0.0040	c.328 others(4): Show c.3284G>A	p.Arg others(7): Show p.Arg1095Gln	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	23/33	3978/6602	3284/5115	1095/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2286803	C C	T T	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0111 a0007c0016t0001g0111	1	252	0.0040	c.316 others(4): Show c.3169G>A	p.Val others(7): Show p.Val1057Met	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	22/33	3863/6602	3169/5115	1057/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2295671	T T	C C	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0002 a0009c0021t0002	a0009c0021t0002g0210 a0009c0021t0002g0210	1	252	0.0040	c.233 others(4): Show c.2333A>G	p.His others(6): Show p.His778Arg	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	18/33	3027/6602	2333/5115	778/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2295722	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0002 a0006c0022t0002	a0006c0022t0002g0203 a0006c0022t0002g0203	1	252	0.0040	c.228 others(4): Show c.2282C>T	p.Thr others(6): Show p.Thr761Met	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	18/33	2976/6602	2282/5115	761/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2297473	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0001 a0005c0023t0001	a0005c0023t0001g0044 a0005c0023t0001g0044	1	252	0.0040	c.211 others(4): Show c.2119C>T	p.Leu others(6): Show p.Leu707Phe	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	17/33	2813/6602	2119/5115	707/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2297497	A A	C C	missense_variant missense_variant	MODERATE	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0001 a0004c0015t0001	a0004c0015t0001g0186 a0004c0015t0001g0186	1	252	0.0040	c.209 others(4): Show c.2095T>G	p.Ser others(6): Show p.Ser699Ala	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	17/33	2789/6602	2095/5115	699/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2297858	G G	C C	missense_variant missense_variant	MODERATE	NA18978.hp2 NA18978.hp2	a0010 a0010	a0010c0027 a0010c0027	a0010c0027t0003 a0010c0027t0003	a0010c0027t0003g0018 a0010c0027t0003g0018	1	252	0.0040	c.196 others(4): Show c.1960C>G	p.Leu others(6): Show p.Leu654Val	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	16/33	2654/6602	1960/5115	654/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2300067	C C	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0098 a0011c0014t0001g0098	1	252	0.0040	c.154 others(4): Show c.1549G>A	p.Glu others(6): Show p.Glu517Lys	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	13/33	2243/6602	1549/5115	517/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2300114	G G	T T	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0098 a0011c0014t0001g0098	1	252	0.0040	c.150 others(4): Show c.1502C>A	p.Ala others(6): Show p.Ala501Glu	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	13/33	2196/6602	1502/5115	501/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2319591	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0166 a0003c0013t0001g0166	1	252	0.0040	c.863 others(3): Show c.863G>A	p.Arg others(6): Show p.Arg288Lys	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	8/33	1557/6602	863/5115	288/1704	chr16	TogoVar
ABCA3_chr16_2270881_2345728	2326169	C C	T T	missense_variant missense_variant	MODERATE	HG02300.hp2 HG02300.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0041 a0012c0012t0001g0041	1	252	0.0040	c.160 others(3): Show c.160G>A	p.Ala others(5): Show p.Ala54Thr	ABCA3	ENSG00000167972.14	transcript	ENST00000301732.10	protein_coding	5/33	854/6602	160/5115	54/1704	chr16	TogoVar
ABCA4_chr1_93987834_94126148	93996161	C C	A A	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00544.hp1 HG00639.hp1 others(53): Show HG00280.hp2 HG00544.hp1 HG00639.hp1 HG00733.hp2 HG01081.hp2 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18997.hp2 NA19000.hp1 NA19030.hp2 NA19063.hp2 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2	a0003 a0004 a0006 others(14): Show a0003 a0004 a0006 a0007 a0014 a0019 a0022 a0023 a0024 a0028 a0029 a0030 a0036 a0038 a0042 a0048 a0051	a0003c0008 a0003c0015 a0003c0020 others(40): Show a0003c0008 a0003c0015 a0003c0020 a0003c0031 a0003c0033 a0003c0057 a0003c0061 a0003c0065 a0003c0066 a0003c0067 a0003c0068 a0003c0072 a0003c0075 a0003c0078 a0003c0082 a0004c0011 a0004c0035 a0004c0039 a0004c0044 a0004c0046 a0006c0012 a0006c0053 a0006c0054 a0006c0076 a0007c0026 a0007c0027 a0007c0034 a0007c0097 a0014c0050 a0014c0051 a0019c0089 a0019c0090 a0022c0105 a0023c0036 a0024c0102 a0028c0074 a0029c0056 a0030c0070 a0036c0071 a0038c0077 a0042c0092 a0048c0038 a0051c0110	a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 others(40): Show a0003c0008t0002 a0003c0015t0001 a0003c0020t0001 a0003c0031t0004 a0003c0033t0001 a0003c0057t0002 a0003c0061t0001 a0003c0065t0002 a0003c0066t0003 a0003c0067t0001 a0003c0068t0001 a0003c0072t0001 a0003c0075t0001 a0003c0078t0004 a0003c0082t0002 a0004c0011t0002 a0004c0035t0002 a0004c0039t0001 a0004c0044t0002 a0004c0046t0001 a0006c0012t0001 a0006c0053t0001 a0006c0054t0002 a0006c0076t0001 a0007c0026t0001 a0007c0027t0002 a0007c0034t0002 a0007c0097t0002 a0014c0050t0001 a0014c0051t0002 a0019c0089t0001 a0019c0090t0003 a0022c0105t0001 a0023c0036t0003 a0024c0102t0001 a0028c0074t0002 a0029c0056t0003 a0030c0070t0001 a0036c0071t0003 a0038c0077t0002 a0042c0092t0004 a0048c0038t0001 a0051c0110t0001	a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 others(53): Show a0003c0008t0002g0065 a0003c0008t0002g0146 a0003c0008t0002g0160 a0003c0008t0002g0245 a0003c0008t0002g0246 a0003c0008t0002g0294 a0003c0015t0001g0187 a0003c0015t0001g0188 a0003c0020t0001g0119 a0003c0020t0001g0291 a0003c0031t0004g0130 a0003c0033t0001g0186 a0003c0057t0002g0137 a0003c0061t0001g0032 a0003c0065t0002g0268 a0003c0066t0003g0206 a0003c0067t0001g0128 a0003c0068t0001g0108 a0003c0072t0001g0049 a0003c0075t0001g0090 a0003c0078t0004g0264 a0003c0082t0002g0215 a0004c0011t0002g0113 a0004c0011t0002g0126 a0004c0011t0002g0127 a0004c0035t0002g0052 a0004c0039t0001g0118 a0004c0044t0002g0190 a0004c0046t0001g0104 a0006c0012t0001g0035 a0006c0012t0001g0134 a0006c0012t0001g0149 a0006c0053t0001g0296 a0006c0054t0002g0123 a0006c0076t0001g0005 a0007c0026t0001g0299 a0007c0026t0001g0300 a0007c0027t0002g0022 a0007c0027t0002g0042 a0007c0034t0002g0131 a0007c0097t0002g0100 a0014c0050t0001g0012 a0014c0051t0002g0013 a0019c0089t0001g0297 a0019c0090t0003g0047 a0022c0105t0001g0124 a0023c0036t0003g0068 a0024c0102t0001g0015 a0028c0074t0002g0243 a0029c0056t0003g0140 a0030c0070t0001g0298 a0036c0071t0003g0048 a0038c0077t0002g0177 a0042c0092t0004g0006 a0048c0038t0001g0199 a0051c0110t0001g0301	56	306	0.1830	c.676 others(4): Show c.6764G>T	p.Ser others(7): Show p.Ser2255Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	49/50	6867/7328	6764/6822	2255/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	93998061	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0045 a0045	a0045c0096 a0045c0096	a0045c0096t0001 a0045c0096t0001	a0045c0096t0001g0097 a0045c0096t0001g0097	1	306	0.0033	c.652 others(4): Show c.6529G>A	p.Asp others(7): Show p.Asp2177Asn	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	48/50	6632/7328	6529/6822	2177/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94001068	C C	T T	missense_variant missense_variant	MODERATE	HG02976.hp2 HG03453.hp1 HG02976.hp2 HG03453.hp1	a0023 a0036 a0023 a0036	a0023c0036 a0036c0071 a0023c0036 a0036c0071	a0023c0036t0003 a0036c0071t0003 a0023c0036t0003 a0036c0071t0003	a0023c0036t0003g0068 a0036c0071t0003g0048 a0023c0036t0003g0068 a0036c0071t0003g0048	2	306	0.0065	c.632 others(4): Show c.6320G>A	p.Arg others(7): Show p.Arg2107His	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	46/50	6423/7328	6320/6822	2107/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94005469	C C	T T	missense_variant missense_variant	MODERATE	NA19011.hp1 NA19011.hp1	a0035 a0035	a0035c0063 a0035c0063	a0035c0063t0001 a0035c0063t0001	a0035c0063t0001g0033 a0035c0063t0001g0033	1	306	0.0033	c.611 others(4): Show c.6119G>A	p.Arg others(7): Show p.Arg2040Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	44/50	6222/7328	6119/6822	2040/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94007731	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp1 HG01074.hp1	a0034 a0034	a0034c0083 a0034c0083	a0034c0083t0001 a0034c0083t0001	a0034c0083t0001g0138 a0034c0083t0001g0138	1	306	0.0033	c.590 others(4): Show c.5908C>T	p.Leu others(7): Show p.Leu1970Phe	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	43/50	6011/7328	5908/6822	1970/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94008251	C C	T T	missense_variant missense_variant	MODERATE	HG01169.hp1 HG01169.hp1	a0044 a0044	a0044c0093 a0044c0093	a0044c0093t0001 a0044c0093t0001	a0044c0093t0001g0017 a0044c0093t0001g0017	1	306	0.0033	c.588 others(4): Show c.5882G>A	p.Gly others(7): Show p.Gly1961Glu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	42/50	5985/7328	5882/6822	1961/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94008290	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp2 HG01243.hp2 HG01515.hp1 others(2): Show HG00738.hp2 HG01243.hp2 HG01515.hp1 HG02559.hp2 HG03710.hp2	a0011 a0012 a0011 a0012	a0011c0021 a0011c0073 a0012c0016 a0011c0021 a0011c0073 a0012c0016	a0011c0021t0001 a0011c0073t0001 a0012c0016t0001 a0011c0021t0001 a0011c0073t0001 a0012c0016t0001	a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 others(2): Show a0011c0021t0001g0166 a0011c0021t0001g0244 a0011c0073t0001g0269 a0012c0016t0001g0023 a0012c0016t0001g0152	5	306	0.0163	c.584 others(4): Show c.5843C>T	p.Pro others(7): Show p.Pro1948Leu	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	42/50	5946/7328	5843/6822	1948/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94010821	C C	T T	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0033 a0033	a0033c0062 a0033c0062	a0033c0062t0001 a0033c0062t0001	a0033c0062t0001g0257 a0033c0062t0001g0257	1	306	0.0033	c.569 others(4): Show c.5693G>A	p.Arg others(7): Show p.Arg1898His	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	40/50	5796/7328	5693/6822	1898/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94010911	T T	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01109.hp1 HG02735.hp1 HG00099.hp1 HG01109.hp1 HG02735.hp1	a0015 a0043 a0015 a0043	a0015c0022 a0043c0099 a0015c0022 a0043c0099	a0015c0022t0001 a0043c0099t0001 a0015c0022t0001 a0043c0099t0001	a0015c0022t0001g0252 a0015c0022t0001g0267 a0043c0099t0001g0254 a0015c0022t0001g0252 a0015c0022t0001g0267 a0043c0099t0001g0254	3	306	0.0098	c.560 others(4): Show c.5603A>T	p.Asn others(7): Show p.Asn1868Ile	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	40/50	5706/7328	5603/6822	1868/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94011364	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp2 HG00642.hp2	a0050 a0050	a0050c0109 a0050c0109	a0050c0109t0001 a0050c0109t0001	a0050c0109t0001g0262 a0050c0109t0001g0262	1	306	0.0033	c.548 others(4): Show c.5482G>A	p.Val others(7): Show p.Val1828Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	39/50	5585/7328	5482/6822	1828/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94019722	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0031 a0031	a0031c0059 a0031c0059	a0031c0059t0001 a0031c0059t0001	a0031c0059t0001g0066 a0031c0059t0001g0066	1	306	0.0033	c.505 others(4): Show c.5056G>A	p.Val others(7): Show p.Val1686Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	36/50	5159/7328	5056/6822	1686/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94029481	C C	G G	missense_variant missense_variant	MODERATE	HG02886.hp1 HG03486.hp2 HG02886.hp1 HG03486.hp2	a0031 a0032 a0031 a0032	a0031c0059 a0032c0060 a0031c0059 a0032c0060	a0031c0059t0001 a0032c0060t0001 a0031c0059t0001 a0032c0060t0001	a0031c0059t0001g0066 a0032c0060t0001g0011 a0031c0059t0001g0066 a0032c0060t0001g0011	2	306	0.0065	c.450 others(4): Show c.4503G>C	p.Glu others(7): Show p.Glu1501Asp	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	30/50	4606/7328	4503/6822	1501/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030438	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp1 HG01891.hp1	a0037 a0037	a0037c0058 a0037c0058	a0037c0058t0001 a0037c0058t0001	a0037c0058t0001g0088 a0037c0058t0001g0088	1	306	0.0033	c.434 others(4): Show c.4342G>A	p.Gly others(7): Show p.Gly1448Arg	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4445/7328	4342/6822	1448/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030453	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0029 a0029	a0029c0056 a0029c0056	a0029c0056t0003 a0029c0056t0003	a0029c0056t0003g0140 a0029c0056t0003g0140	1	306	0.0033	c.432 others(4): Show c.4327C>T	p.Arg others(7): Show p.Arg1443Cys	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4430/7328	4327/6822	1443/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030492	G G	A A	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02818.hp1	a0025 a0025	a0025c0101 a0025c0101	a0025c0101t0001 a0025c0101t0001	a0025c0101t0001g0014 a0025c0101t0001g0014	1	306	0.0033	c.428 others(4): Show c.4288C>T	p.Leu others(7): Show p.Leu1430Phe	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4391/7328	4288/6822	1430/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030497	G G	A A	missense_variant missense_variant	MODERATE	HG02027.hp2 NA18991.hp2 NA19007.hp1 HG02027.hp2 NA18991.hp2 NA19007.hp1	a0010 a0010	a0010c0023 a0010c0069 a0010c0023 a0010c0069	a0010c0023t0001 a0010c0069t0001 a0010c0023t0001 a0010c0069t0001	a0010c0023t0001g0170 a0010c0023t0001g0212 a0010c0069t0001g0293 a0010c0023t0001g0170 a0010c0023t0001g0212 a0010c0069t0001g0293	3	306	0.0098	c.428 others(4): Show c.4283C>T	p.Thr others(7): Show p.Thr1428Met	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4386/7328	4283/6822	1428/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94030524	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0016 a0016	a0016c0019 a0016c0019	a0016c0019t0001 a0016c0019t0001	a0016c0019t0001g0109 a0016c0019t0001g0164 a0016c0019t0001g0109 a0016c0019t0001g0164	2	306	0.0065	c.425 others(4): Show c.4256T>C	p.Met others(7): Show p.Met1419Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	29/50	4359/7328	4256/6822	1419/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94032007	C C	T T	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02809.hp1 HG02896.hp1 others(5): Show HG02559.hp1 HG02809.hp1 HG02896.hp1 HG02970.hp1 HG03139.hp2 HG03453.hp2 HG03540.hp1 HG06807.hp1	a0009 a0021 a0029 others(3): Show a0009 a0021 a0029 a0030 a0039 a0042	a0009c0018 a0009c0079 a0021c0104 others(4): Show a0009c0018 a0009c0079 a0021c0104 a0029c0056 a0030c0070 a0039c0086 a0042c0092	a0009c0018t0001 a0009c0079t0001 a0021c0104t0001 others(4): Show a0009c0018t0001 a0009c0079t0001 a0021c0104t0001 a0029c0056t0003 a0030c0070t0001 a0039c0086t0001 a0042c0092t0004	a0009c0018t0001g0007 a0009c0018t0001g0061 a0009c0079t0001g0133 others(5): Show a0009c0018t0001g0007 a0009c0018t0001g0061 a0009c0079t0001g0133 a0021c0104t0001g0129 a0029c0056t0003g0140 a0030c0070t0001g0298 a0039c0086t0001g0135 a0042c0092t0004g0006	8	306	0.0261	c.389 others(4): Show c.3899G>A	p.Arg others(7): Show p.Arg1300Gln	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	27/50	4002/7328	3899/6822	1300/2273	chr1	TogoVar
ABCA4_chr1_93987834_94126148	94037332	A A	G G	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00621.hp2 HG01261.hp2 others(4): Show HG00544.hp1 HG00621.hp2 HG01261.hp2 HG02080.hp2 NA19004.hp2 NA19081.hp2 NA19087.hp2	a0008 a0038 a0046 a0008 a0038 a0046	a0008c0014 a0008c0024 a0038c0077 others(1): Show a0008c0014 a0008c0024 a0038c0077 a0046c0091	a0008c0014t0001 a0008c0024t0001 a0038c0077t0002 others(1): Show a0008c0014t0001 a0008c0024t0001 a0038c0077t0002 a0046c0091t0001	a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 others(4): Show a0008c0014t0001g0045 a0008c0014t0001g0084 a0008c0014t0001g0161 a0008c0024t0001g0285 a0008c0024t0001g0287 a0038c0077t0002g0177 a0046c0091t0001g0266	7	306	0.0229	c.362 others(4): Show c.3626T>C	p.Met others(7): Show p.Met1209Thr	ABCA4	ENSG00000198691.14	transcript	ENST00000370225.4	protein_coding	25/50	3729/7328	3626/6822	1209/2273	chr1	TogoVar

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