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
ABCA12_chr2_214926542_215143626	215000938	T T	G G	missense_variant missense_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0021 a0021	a0021c0037 a0021c0037	a0021c0037t0004 a0021c0037t0004	a0021c0037t0004g0023 a0021c0037t0004g0023	1	198	0.0051	c.294 others(4): Show c.2946A>C	p.Lys others(6): Show p.Lys982Asn	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	22/53	3364/9298	2946/7788	982/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215011442	A A	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(194): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.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 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 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 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022	a0001c0001 a0001c0002 a0001c0003 others(64): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0015 a0001c0016 a0001c0021 a0001c0022 a0001c0023 a0001c0025 a0001c0029 a0001c0031 a0001c0032 a0001c0033 a0001c0035 a0001c0040 a0001c0041 a0001c0042 a0001c0043 a0001c0044 a0001c0049 a0001c0051 a0001c0068 a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0027 a0002c0054 a0002c0056 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0018 a0004c0059 a0004c0060 a0004c0061 a0005c0062 a0005c0063 a0005c0064 a0006c0019 a0007c0024 a0007c0034 a0008c0028 a0009c0026 a0010c0055 a0011c0053 a0012c0052 a0014c0038 a0015c0045 a0016c0039 a0017c0046 a0018c0048 a0019c0047 a0020c0036 a0021c0037 a0022c0030	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(106): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0002t0001 a0001c0002t0011 a0001c0002t0022 a0001c0002t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0010 a0001c0005t0001 a0001c0005t0003 a0001c0005t0005 a0001c0006t0002 a0001c0006t0005 a0001c0006t0023 a0001c0009t0001 a0001c0009t0003 a0001c0009t0008 a0001c0009t0010 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0010t0009 a0001c0011t0001 a0001c0011t0005 a0001c0012t0004 a0001c0012t0014 a0001c0015t0007 a0001c0015t0009 a0001c0016t0002 a0001c0016t0005 a0001c0021t0003 a0001c0021t0010 a0001c0022t0006 a0001c0022t0019 a0001c0023t0003 a0001c0025t0003 a0001c0025t0015 a0001c0029t0002 a0001c0031t0005 a0001c0032t0006 a0001c0033t0026 a0001c0035t0002 a0001c0040t0008 a0001c0041t0003 a0001c0042t0013 a0001c0043t0006 a0001c0044t0004 a0001c0049t0002 a0001c0051t0004 a0001c0068t0003 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0006 a0002c0007t0017 a0002c0008t0004 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0013t0018 a0002c0017t0009 a0002c0017t0016 a0002c0027t0003 a0002c0054t0009 a0002c0056t0004 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0018t0005 a0004c0018t0008 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0004c0061t0015 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004 a0006c0019t0001 a0007c0024t0005 a0007c0034t0005 a0008c0028t0003 a0009c0026t0003 a0010c0055t0010 a0011c0053t0002 a0012c0052t0001 a0014c0038t0008 a0015c0045t0002 a0016c0039t0012 a0017c0046t0001 a0018c0048t0001 a0019c0047t0003 a0020c0036t0001 a0021c0037t0004 a0022c0030t0001	a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0035 others(194): Show a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0035 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0140 a0001c0001t0002g0150 a0001c0001t0002g0154 a0001c0001t0002g0170 a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0001t0013g0040 a0001c0001t0020g0155 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0033 a0001c0002t0001g0043 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0055 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0141 a0001c0002t0001g0151 a0001c0002t0001g0156 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0011g0165 a0001c0002t0022g0148 a0001c0002t0024g0178 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0044 a0001c0003t0001g0122 a0001c0003t0001g0134 a0001c0003t0001g0147 a0001c0003t0001g0159 a0001c0003t0001g0166 a0001c0003t0001g0172 a0001c0003t0001g0173 a0001c0003t0002g0037 a0001c0003t0006g0048 a0001c0003t0011g0120 a0001c0003t0011g0139 a0001c0004t0001g0026 a0001c0004t0001g0029 a0001c0004t0001g0042 a0001c0004t0001g0054 a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0115 a0001c0004t0001g0127 a0001c0004t0001g0133 a0001c0004t0001g0160 a0001c0004t0002g0137 a0001c0004t0002g0138 a0001c0004t0003g0062 a0001c0004t0010g0198 a0001c0005t0001g0125 a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0005t0005g0167 a0001c0006t0002g0116 a0001c0006t0002g0124 a0001c0006t0002g0135 a0001c0006t0002g0142 a0001c0006t0002g0171 a0001c0006t0005g0152 a0001c0006t0023g0146 a0001c0009t0001g0136 a0001c0009t0003g0157 a0001c0009t0008g0188 a0001c0009t0008g0189 a0001c0009t0010g0187 a0001c0010t0002g0168 a0001c0010t0003g0143 a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0010t0009g0001 a0001c0011t0001g0085 a0001c0011t0001g0087 a0001c0011t0001g0126 a0001c0011t0005g0088 a0001c0011t0005g0089 a0001c0012t0004g0039 a0001c0012t0004g0065 a0001c0012t0014g0015 a0001c0012t0014g0097 a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 a0001c0016t0002g0086 a0001c0016t0002g0090 a0001c0016t0005g0063 a0001c0021t0003g0174 a0001c0021t0010g0194 a0001c0022t0006g0112 a0001c0022t0019g0014 a0001c0023t0003g0024 a0001c0023t0003g0153 a0001c0025t0003g0064 a0001c0025t0015g0182 a0001c0029t0002g0031 a0001c0031t0005g0158 a0001c0032t0006g0041 a0001c0033t0026g0193 a0001c0035t0002g0144 a0001c0040t0008g0186 a0001c0041t0003g0164 a0001c0042t0013g0045 a0001c0043t0006g0022 a0001c0044t0004g0067 a0001c0049t0002g0057 a0001c0051t0004g0076 a0001c0068t0003g0016 a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0007t0017g0012 a0002c0008t0004g0021 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0013t0018g0002 a0002c0017t0009g0007 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0054t0009g0004 a0002c0056t0004g0020 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0004c0018t0005g0095 a0004c0018t0008g0196 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0004c0061t0015g0181 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100 a0007c0024t0005g0093 a0007c0024t0005g0094 a0007c0034t0005g0169 a0008c0028t0003g0081 a0008c0028t0003g0083 a0009c0026t0003g0053 a0009c0026t0003g0056 a0010c0055t0010g0184 a0011c0053t0002g0129 a0012c0052t0001g0128 a0014c0038t0008g0195 a0015c0045t0002g0162 a0016c0039t0012g0185 a0017c0046t0001g0046 a0018c0048t0001g0068 a0019c0047t0003g0052 a0020c0036t0001g0084 a0021c0037t0004g0023 a0022c0030t0001g0047	197	198	0.9950	c.232 others(4): Show c.2329T>A	p.Ser others(6): Show p.Ser777Thr	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	17/53	2747/9298	2329/7788	777/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215012125	G G	A A	missense_variant missense_variant	MODERATE	NA20905.hp2 NA20905.hp2	a0012 a0012	a0012c0052 a0012c0052	a0012c0052t0001 a0012c0052t0001	a0012c0052t0001g0128 a0012c0052t0001g0128	1	198	0.0051	c.196 others(4): Show c.1967C>T	p.Pro others(6): Show p.Pro656Leu	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	16/53	2385/9298	1967/7788	656/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215018025	G G	T T	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0001 a0022c0030t0001	a0022c0030t0001g0047 a0022c0030t0001g0047	1	198	0.0051	c.176 others(4): Show c.1765C>A	p.Pro others(6): Show p.Pro589Thr	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	14/53	2183/9298	1765/7788	589/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215019344	T T	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp2 HG03225.hp1 NA18522.hp2 NA18906.hp2	a0003 a0005 a0003 a0005	a0003c0014 a0003c0020 a0003c0065 others(5): Show a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0005c0062 a0005c0063 a0005c0064	a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 others(8): Show a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070	13	198	0.0657	c.164 others(4): Show c.1649A>G	p.Glu others(6): Show p.Glu550Gly	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	13/53	2067/9298	1649/7788	550/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215025738	A A	G G	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0003 a0009c0026t0003	a0009c0026t0003g0053 a0009c0026t0003g0056 a0009c0026t0003g0053 a0009c0026t0003g0056	2	198	0.0101	c.122 others(4): Show c.1222T>C	p.Ser others(6): Show p.Ser408Pro	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	11/53	1640/9298	1222/7788	408/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215036964	G G	A A	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0011 a0011	a0011c0053 a0011c0053	a0011c0053t0002 a0011c0053t0002	a0011c0053t0002g0129 a0011c0053t0002g0129	1	198	0.0051	c.974 others(3): Show c.974C>T	p.Ser others(6): Show p.Ser325Phe	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	8/53	1392/9298	974/7788	325/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215045850	G G	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA18522.hp2 NA18906.hp2	a0003 a0006 a0003 a0006	a0003c0014 a0003c0020 a0003c0065 others(3): Show a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0006c0019	a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 others(6): Show a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0006c0019t0001	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100	13	198	0.0657	c.859 others(3): Show c.859C>G	p.Arg others(6): Show p.Arg287Gly	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	7/53	1277/9298	859/7788	287/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215045888	T T	C C	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG02818.hp1 HG02886.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 NA18522.hp2 NA18906.hp2	a0003 a0006 a0003 a0006	a0003c0014 a0003c0020 a0003c0065 others(3): Show a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0006c0019	a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 others(6): Show a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0006c0019t0001	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100	13	198	0.0657	c.821 others(3): Show c.821A>G	p.Gln others(6): Show p.Gln274Arg	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	7/53	1239/9298	821/7788	274/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215046000	T T	G G	missense_variant missense_variant	MODERATE	HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show HG01070.hp2 HG01071.hp1 HG01243.hp1 HG01891.hp1 HG01975.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0010	a0002c0007 a0002c0008 a0002c0013 others(22): Show a0002c0007 a0002c0008 a0002c0013 a0002c0017 a0002c0027 a0002c0054 a0002c0056 a0002c0057 a0002c0058 a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0018 a0004c0059 a0004c0060 a0004c0061 a0005c0062 a0005c0063 a0005c0064 a0006c0019 a0008c0028 a0009c0026 a0010c0055	a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 others(35): Show a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0006 a0002c0007t0017 a0002c0008t0004 a0002c0008t0007 a0002c0013t0003 a0002c0013t0008 a0002c0013t0018 a0002c0017t0009 a0002c0017t0016 a0002c0027t0003 a0002c0054t0009 a0002c0056t0004 a0002c0057t0006 a0002c0058t0002 a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0018t0005 a0004c0018t0008 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0004c0061t0015 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004 a0006c0019t0001 a0008c0028t0003 a0009c0026t0003 a0010c0055t0010	a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(50): Show a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 a0002c0007t0004g0149 a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0007t0017g0012 a0002c0008t0004g0021 a0002c0008t0007g0003 a0002c0008t0007g0005 a0002c0008t0007g0008 a0002c0008t0007g0010 a0002c0008t0007g0011 a0002c0013t0003g0018 a0002c0013t0003g0019 a0002c0013t0008g0190 a0002c0013t0018g0002 a0002c0017t0009g0007 a0002c0017t0016g0179 a0002c0017t0016g0180 a0002c0027t0003g0073 a0002c0027t0003g0074 a0002c0054t0009g0004 a0002c0056t0004g0020 a0002c0057t0006g0177 a0002c0058t0002g0072 a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0004c0018t0005g0095 a0004c0018t0008g0196 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0004c0061t0015g0181 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100 a0008c0028t0003g0081 a0008c0028t0003g0083 a0009c0026t0003g0053 a0009c0026t0003g0056 a0010c0055t0010g0184	53	198	0.2677	c.709 others(3): Show c.709A>C	p.Asn others(6): Show p.Asn237His	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	7/53	1127/9298	709/7788	237/2595	chr2	TogoVar
ABCA12_chr2_214926542_215143626	215049722	C C	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01891.hp1 HG02055.hp2 others(21): Show HG01243.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03516.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1	a0003 a0004 a0005 others(2): Show a0003 a0004 a0005 a0006 a0008	a0003c0014 a0003c0020 a0003c0065 others(11): Show a0003c0014 a0003c0020 a0003c0065 a0003c0066 a0003c0067 a0004c0018 a0004c0059 a0004c0060 a0004c0061 a0005c0062 a0005c0063 a0005c0064 a0006c0019 a0008c0028	a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 others(16): Show a0003c0014t0002 a0003c0014t0006 a0003c0020t0001 a0003c0020t0003 a0003c0020t0008 a0003c0065t0001 a0003c0066t0004 a0003c0067t0025 a0004c0018t0005 a0004c0018t0008 a0004c0018t0021 a0004c0059t0004 a0004c0060t0006 a0004c0061t0015 a0005c0062t0004 a0005c0063t0003 a0005c0064t0004 a0006c0019t0001 a0008c0028t0003	a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(21): Show a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 a0003c0014t0006g0107 a0003c0020t0001g0106 a0003c0020t0003g0108 a0003c0020t0008g0197 a0003c0065t0001g0103 a0003c0066t0004g0104 a0003c0067t0025g0183 a0004c0018t0005g0095 a0004c0018t0008g0196 a0004c0018t0021g0082 a0004c0059t0004g0071 a0004c0060t0006g0080 a0004c0061t0015g0181 a0005c0062t0004g0078 a0005c0063t0003g0079 a0005c0064t0004g0070 a0006c0019t0001g0096 a0006c0019t0001g0099 a0006c0019t0001g0100 a0008c0028t0003g0081 a0008c0028t0003g0083	24	198	0.1212	c.597 others(3): Show c.597G>C	p.Trp others(6): Show p.Trp199Cys	ABCA12	ENSG00000144452.15	transcript	ENST00000272895.12	protein_coding	6/53	1015/9298	597/7788	199/2595	chr2	TogoVar
ABCA13_chr7_48166458_48652497	48240954	G G	A A	missense_variant missense_variant	MODERATE	NA20129.hp2 NA20129.hp2	a0088 a0088	a0088c0037 a0088c0037	a0088c0037t0005 a0088c0037t0005	a0088c0037t0005g0092 a0088c0037t0005g0092	1	178	0.0056	c.115 others(4): Show c.1150G>A	p.Glu others(6): Show p.Glu384Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	10/62	1176/17188	1150/15177	384/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48244587	T T	A A	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02145.hp2 HG02258.hp1 others(2): Show HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02976.hp2 HG03139.hp1	a0028 a0029 a0087 a0028 a0029 a0087	a0028c0015 a0029c0014 a0087c0039 a0028c0015 a0029c0014 a0087c0039	a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 others(1): Show a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0087c0039t0001	a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 others(2): Show a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0087c0039t0001g0003	5	178	0.0281	c.127 others(4): Show c.1274T>A	p.Leu others(6): Show p.Leu425Gln	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	11/62	1300/17188	1274/15177	425/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48245877	T T	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0030 a0030	a0030c0042 a0030c0042	a0030c0042t0004 a0030c0042t0004	a0030c0042t0004g0073 a0030c0042t0004g0073	1	178	0.0056	c.150 others(4): Show c.1506T>A	p.Asn others(6): Show p.Asn502Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	13/62	1532/17188	1506/15177	502/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48245888	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG01070.hp1 HG01074.hp1 others(62): Show HG00544.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01433.hp2 HG01516.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG03139.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 NA18906.hp1 NA18942.hp2 NA18944.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp1 NA18986.hp1 NA18987.hp2 NA18992.hp2 NA18994.hp1 NA18998.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19060.hp1 NA19062.hp2 NA19074.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0007 a0008 others(22): Show a0001 a0007 a0008 a0009 a0010 a0016 a0017 a0018 a0019 a0020 a0021 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043	a0001c0001 a0001c0010 a0001c0103 others(33): Show a0001c0001 a0001c0010 a0001c0103 a0001c0104 a0007c0011 a0007c0101 a0007c0102 a0008c0013 a0008c0032 a0009c0012 a0009c0107 a0010c0031 a0010c0033 a0016c0094 a0016c0095 a0017c0096 a0017c0097 a0018c0029 a0019c0030 a0020c0034 a0020c0109 a0021c0028 a0030c0042 a0031c0092 a0032c0114 a0033c0099 a0034c0105 a0035c0106 a0036c0098 a0037c0100 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0042c0113 a0043c0093	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0010t0001 a0001c0010t0002 a0001c0103t0006 a0001c0104t0005 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0008c0013t0001 a0008c0013t0002 a0008c0013t0005 a0008c0032t0001 a0008c0032t0002 a0009c0012t0002 a0009c0107t0001 a0010c0031t0003 a0010c0033t0003 a0016c0094t0002 a0016c0095t0002 a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0018c0029t0004 a0019c0030t0003 a0020c0034t0003 a0020c0109t0001 a0021c0028t0003 a0030c0042t0004 a0031c0092t0004 a0032c0114t0004 a0033c0099t0002 a0034c0105t0005 a0035c0106t0005 a0036c0098t0001 a0037c0100t0001 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0042c0113t0003 a0043c0093t0002	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(62): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0001g0177 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0004g0057 a0001c0001t0004g0164 a0001c0001t0006g0178 a0001c0010t0001g0050 a0001c0010t0001g0066 a0001c0010t0002g0074 a0001c0103t0006g0059 a0001c0104t0005g0044 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0007c0102t0001g0020 a0008c0013t0001g0111 a0008c0013t0002g0088 a0008c0013t0005g0045 a0008c0032t0001g0079 a0008c0032t0002g0055 a0009c0012t0002g0052 a0009c0012t0002g0072 a0009c0012t0002g0094 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0016c0094t0002g0078 a0016c0095t0002g0043 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0018c0029t0004g0070 a0019c0030t0003g0038 a0019c0030t0003g0068 a0020c0034t0003g0117 a0020c0109t0001g0120 a0021c0028t0003g0005 a0021c0028t0003g0011 a0030c0042t0004g0073 a0031c0092t0004g0095 a0032c0114t0004g0082 a0033c0099t0002g0062 a0034c0105t0005g0037 a0035c0106t0005g0006 a0036c0098t0001g0069 a0037c0100t0001g0041 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0042c0113t0003g0093 a0043c0093t0002g0150	65	178	0.3652	c.151 others(4): Show c.1517C>T	p.Pro others(6): Show p.Pro506Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	13/62	1543/17188	1517/15177	506/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48248243	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00738.hp1 HG00741.hp2 others(35): Show HG00544.hp2 HG00738.hp1 HG00741.hp2 HG01243.hp2 HG01516.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02723.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03654.hp1 HG06807.hp2 NA18953.hp1 NA18959.hp2 NA18987.hp1 NA18994.hp2 NA19007.hp2 NA19062.hp1 NA20129.hp2 NA20300.hp1	a0011 a0012 a0013 others(21): Show a0011 a0012 a0013 a0014 a0022 a0023 a0028 a0029 a0031 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0087 a0088	a0011c0017 a0011c0044 a0011c0046 others(26): Show a0011c0017 a0011c0044 a0011c0046 a0012c0016 a0012c0043 a0012c0045 a0013c0006 a0014c0019 a0014c0047 a0022c0020 a0023c0018 a0028c0015 a0029c0014 a0031c0092 a0044c0058 a0045c0056 a0046c0057 a0047c0040 a0048c0041 a0049c0055 a0050c0054 a0051c0053 a0052c0052 a0053c0051 a0054c0048 a0055c0049 a0056c0050 a0087c0039 a0088c0037	a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 others(30): Show a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0012c0016t0001 a0012c0043t0002 a0012c0045t0002 a0013c0006t0001 a0014c0019t0002 a0014c0047t0001 a0022c0020t0001 a0022c0020t0005 a0023c0018t0001 a0023c0018t0004 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0031c0092t0004 a0044c0058t0001 a0045c0056t0002 a0046c0057t0001 a0047c0040t0001 a0048c0041t0004 a0049c0055t0003 a0050c0054t0002 a0051c0053t0004 a0052c0052t0001 a0053c0051t0001 a0054c0048t0004 a0055c0049t0001 a0056c0050t0004 a0087c0039t0001 a0088c0037t0005	a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 others(35): Show a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0016t0001g0087 a0012c0016t0001g0108 a0012c0043t0002g0098 a0012c0045t0002g0075 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0022c0020t0001g0007 a0022c0020t0005g0123 a0023c0018t0001g0110 a0023c0018t0004g0091 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0031c0092t0004g0095 a0044c0058t0001g0101 a0045c0056t0002g0019 a0046c0057t0001g0001 a0047c0040t0001g0009 a0048c0041t0004g0039 a0049c0055t0003g0125 a0050c0054t0002g0015 a0051c0053t0004g0122 a0052c0052t0001g0097 a0053c0051t0001g0026 a0054c0048t0004g0159 a0055c0049t0001g0086 a0056c0050t0004g0099 a0087c0039t0001g0003 a0088c0037t0005g0092	38	178	0.2135	c.166 others(4): Show c.1664G>A	p.Arg others(6): Show p.Arg555His	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	14/62	1690/17188	1664/15177	555/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48249300	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0086 a0086	a0086c0059 a0086c0059	a0086c0059t0003 a0086c0059t0003	a0086c0059t0003g0172 a0086c0059t0003g0172	1	178	0.0056	c.195 others(4): Show c.1954G>A	p.Glu others(6): Show p.Glu652Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	15/62	1980/17188	1954/15177	652/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48271888	A A	C C	missense_variant missense_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0044 a0044	a0044c0058 a0044c0058	a0044c0058t0001 a0044c0058t0001	a0044c0058t0001g0101 a0044c0058t0001g0101	1	178	0.0056	c.222 others(4): Show c.2222A>C	p.Glu others(6): Show p.Glu741Ala	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2248/17188	2222/15177	741/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48271966	T T	G G	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00738.hp1 HG00741.hp1 others(34): Show HG00544.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01123.hp1 HG01516.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02886.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03492.hp2 HG03654.hp1 HG06807.hp2 NA18942.hp1 NA18953.hp1 NA18959.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp2 NA19007.hp2 NA19043.hp1 NA19060.hp2 NA19062.hp1 NA20129.hp2 NA20300.hp1	a0003 a0011 a0012 others(15): Show a0003 a0011 a0012 a0014 a0023 a0027 a0028 a0029 a0031 a0044 a0052 a0053 a0054 a0055 a0056 a0085 a0087 a0088	a0003c0003 a0003c0004 a0011c0017 others(21): Show a0003c0003 a0003c0004 a0011c0017 a0011c0044 a0011c0046 a0012c0016 a0012c0043 a0012c0045 a0014c0019 a0014c0047 a0023c0018 a0027c0021 a0028c0015 a0029c0014 a0031c0092 a0044c0058 a0052c0052 a0053c0051 a0054c0048 a0055c0049 a0056c0050 a0085c0060 a0087c0039 a0088c0037	a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 others(26): Show a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0012c0016t0001 a0012c0043t0002 a0012c0045t0002 a0014c0019t0002 a0014c0047t0001 a0023c0018t0001 a0023c0018t0004 a0027c0021t0008 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0031c0092t0004 a0044c0058t0001 a0052c0052t0001 a0053c0051t0001 a0054c0048t0004 a0055c0049t0001 a0056c0050t0004 a0085c0060t0001 a0087c0039t0001 a0088c0037t0005	a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(34): Show a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0016t0001g0087 a0012c0016t0001g0108 a0012c0043t0002g0098 a0012c0045t0002g0075 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0023c0018t0001g0110 a0023c0018t0004g0091 a0027c0021t0008g0056 a0027c0021t0008g0077 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0031c0092t0004g0095 a0044c0058t0001g0101 a0052c0052t0001g0097 a0053c0051t0001g0026 a0054c0048t0004g0159 a0055c0049t0001g0086 a0056c0050t0004g0099 a0085c0060t0001g0100 a0087c0039t0001g0003 a0088c0037t0005g0092	37	178	0.2079	c.230 others(4): Show c.2300T>G	p.Ile others(6): Show p.Ile767Ser	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2326/17188	2300/15177	767/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272005	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.233 others(4): Show c.2339G>A	p.Ser others(6): Show p.Ser780Asn	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2365/17188	2339/15177	780/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272061	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01074.hp1 NA18956.hp2 others(1): Show HG00408.hp1 HG01074.hp1 NA18956.hp2 NA19091.hp1	a0021 a0043 a0084 a0021 a0043 a0084	a0021c0028 a0043c0093 a0084c0061 a0021c0028 a0043c0093 a0084c0061	a0021c0028t0003 a0043c0093t0002 a0084c0061t0004 a0021c0028t0003 a0043c0093t0002 a0084c0061t0004	a0021c0028t0003g0005 a0021c0028t0003g0011 a0043c0093t0002g0150 others(1): Show a0021c0028t0003g0005 a0021c0028t0003g0011 a0043c0093t0002g0150 a0084c0061t0004g0013	4	178	0.0225	c.239 others(4): Show c.2395G>A	p.Glu others(6): Show p.Glu799Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2421/17188	2395/15177	799/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272206	G G	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 NA18953.hp1 HG00544.hp2 NA18953.hp1	a0052 a0053 a0052 a0053	a0052c0052 a0053c0051 a0052c0052 a0053c0051	a0052c0052t0001 a0053c0051t0001 a0052c0052t0001 a0053c0051t0001	a0052c0052t0001g0097 a0053c0051t0001g0026 a0052c0052t0001g0097 a0053c0051t0001g0026	2	178	0.0112	c.254 others(4): Show c.2540G>T	p.Arg others(6): Show p.Arg847Ile	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2566/17188	2540/15177	847/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272287	C C	T T	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0024 a0024	a0024c0027 a0024c0027	a0024c0027t0001 a0024c0027t0006 a0024c0027t0001 a0024c0027t0006	a0024c0027t0001g0161 a0024c0027t0006g0162 a0024c0027t0001g0161 a0024c0027t0006g0162	2	178	0.0112	c.262 others(4): Show c.2621C>T	p.Ser others(6): Show p.Ser874Phe	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2647/17188	2621/15177	874/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272430	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02055.hp1 HG02809.hp1 others(5): Show HG01243.hp2 HG02055.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2	a0013 a0022 a0049 others(2): Show a0013 a0022 a0049 a0050 a0051	a0013c0006 a0022c0020 a0049c0055 others(2): Show a0013c0006 a0022c0020 a0049c0055 a0050c0054 a0051c0053	a0013c0006t0001 a0022c0020t0001 a0022c0020t0005 others(3): Show a0013c0006t0001 a0022c0020t0001 a0022c0020t0005 a0049c0055t0003 a0050c0054t0002 a0051c0053t0004	a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(5): Show a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0022c0020t0001g0007 a0022c0020t0005g0123 a0049c0055t0003g0125 a0050c0054t0002g0015 a0051c0053t0004g0122	8	178	0.0449	c.276 others(4): Show c.2764G>A	p.Ala others(6): Show p.Ala922Thr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2790/17188	2764/15177	922/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272487	G G	C C	missense_variant missense_variant	MODERATE	HG01070.hp1 NA20805.hp2 HG01070.hp1 NA20805.hp2	a0016 a0016	a0016c0094 a0016c0095 a0016c0094 a0016c0095	a0016c0094t0002 a0016c0095t0002 a0016c0094t0002 a0016c0095t0002	a0016c0094t0002g0078 a0016c0095t0002g0043 a0016c0094t0002g0078 a0016c0095t0002g0043	2	178	0.0112	c.282 others(4): Show c.2821G>C	p.Val others(6): Show p.Val941Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	2847/17188	2821/15177	941/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272835	G G	T T	missense_variant missense_variant	MODERATE	HG02132.hp2 HG02132.hp2	a0032 a0032	a0032c0114 a0032c0114	a0032c0114t0004 a0032c0114t0004	a0032c0114t0004g0082 a0032c0114t0004g0082	1	178	0.0056	c.316 others(4): Show c.3169G>T	p.Val others(7): Show p.Val1057Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	3195/17188	3169/15177	1057/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48272893	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.322 others(4): Show c.3227G>A	p.Arg others(7): Show p.Arg1076His	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	3253/17188	3227/15177	1076/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273558	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02055.hp1 HG02258.hp2 others(9): Show HG01243.hp2 HG02055.hp1 HG02258.hp2 HG02723.hp1 HG02809.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2	a0013 a0022 a0045 others(6): Show a0013 a0022 a0045 a0046 a0047 a0048 a0049 a0050 a0051	a0013c0006 a0022c0020 a0045c0056 others(6): Show a0013c0006 a0022c0020 a0045c0056 a0046c0057 a0047c0040 a0048c0041 a0049c0055 a0050c0054 a0051c0053	a0013c0006t0001 a0022c0020t0001 a0022c0020t0005 others(7): Show a0013c0006t0001 a0022c0020t0001 a0022c0020t0005 a0045c0056t0002 a0046c0057t0001 a0047c0040t0001 a0048c0041t0004 a0049c0055t0003 a0050c0054t0002 a0051c0053t0004	a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(9): Show a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0022c0020t0001g0007 a0022c0020t0005g0123 a0045c0056t0002g0019 a0046c0057t0001g0001 a0047c0040t0001g0009 a0048c0041t0004g0039 a0049c0055t0003g0125 a0050c0054t0002g0015 a0051c0053t0004g0122	12	178	0.0674	c.389 others(4): Show c.3892A>G	p.Ile others(7): Show p.Ile1298Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	3918/17188	3892/15177	1298/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273659	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.399 others(4): Show c.3993A>G	p.Ile others(7): Show p.Ile1331Met	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4019/17188	3993/15177	1331/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273702	T T	G G	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0053 a0053	a0053c0051 a0053c0051	a0053c0051t0001 a0053c0051t0001	a0053c0051t0001g0026 a0053c0051t0001g0026	1	178	0.0056	c.403 others(4): Show c.4036T>G	p.Cys others(7): Show p.Cys1346Gly	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4062/17188	4036/15177	1346/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273913	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00738.hp2 HG01123.hp2 others(21): Show HG00735.hp1 HG00738.hp2 HG01123.hp2 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG02280.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03486.hp1 HG03492.hp1 HG03669.hp2 HG03834.hp1 NA18906.hp2 NA18979.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0004 a0024 a0025 others(12): Show a0004 a0024 a0025 a0026 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083	a0004c0008 a0004c0009 a0004c0079 others(15): Show a0004c0008 a0004c0009 a0004c0079 a0024c0027 a0025c0085 a0025c0089 a0026c0026 a0073c0078 a0074c0080 a0075c0081 a0076c0083 a0077c0082 a0078c0084 a0079c0087 a0080c0090 a0081c0086 a0082c0088 a0083c0077	a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 others(19): Show a0004c0008t0001 a0004c0008t0004 a0004c0008t0005 a0004c0009t0001 a0004c0009t0002 a0004c0079t0006 a0024c0027t0001 a0024c0027t0006 a0025c0085t0004 a0025c0089t0012 a0026c0026t0001 a0073c0078t0003 a0074c0080t0013 a0075c0081t0001 a0076c0083t0003 a0077c0082t0005 a0078c0084t0002 a0079c0087t0002 a0080c0090t0005 a0081c0086t0009 a0082c0088t0005 a0083c0077t0003	a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0008t0005g0169 others(21): Show a0004c0008t0001g0149 a0004c0008t0004g0167 a0004c0008t0005g0169 a0004c0009t0001g0116 a0004c0009t0002g0151 a0004c0009t0002g0166 a0004c0079t0006g0147 a0024c0027t0001g0161 a0024c0027t0006g0162 a0025c0085t0004g0008 a0025c0089t0012g0154 a0026c0026t0001g0053 a0026c0026t0001g0080 a0073c0078t0003g0170 a0074c0080t0013g0158 a0075c0081t0001g0148 a0076c0083t0003g0145 a0077c0082t0005g0146 a0078c0084t0002g0076 a0079c0087t0002g0153 a0080c0090t0005g0104 a0081c0086t0009g0160 a0082c0088t0005g0152 a0083c0077t0003g0046	24	178	0.1348	c.424 others(4): Show c.4247A>G	p.His others(7): Show p.His1416Arg	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4273/17188	4247/15177	1416/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48273966	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.430 others(4): Show c.4300A>G	p.Ile others(7): Show p.Ile1434Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4326/17188	4300/15177	1434/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274207	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp2 NA19007.hp2	a0056 a0056	a0056c0050 a0056c0050	a0056c0050t0004 a0056c0050t0004	a0056c0050t0004g0099 a0056c0050t0004g0099	1	178	0.0056	c.454 others(4): Show c.4541C>T	p.Ala others(7): Show p.Ala1514Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4567/17188	4541/15177	1514/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274284	T T	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(24): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02717.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18944.hp2 NA18961.hp2 NA18977.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19030.hp2 NA19074.hp2 NA19083.hp1	a0002 a0005 a0006 others(7): Show a0002 a0005 a0006 a0066 a0067 a0068 a0069 a0070 a0071 a0072	a0002c0002 a0002c0022 a0002c0065 others(12): Show a0002c0002 a0002c0022 a0002c0065 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0066c0062 a0067c0068 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0066c0062t0003 a0067c0068t0002 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001	a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 others(24): Show a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0002t0004g0106 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0066c0062t0003g0141 a0067c0068t0002g0061 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144	27	178	0.1517	c.461 others(4): Show c.4618T>C	p.Phe others(7): Show p.Phe1540Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4644/17188	4618/15177	1540/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48274330	A A	G G	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0055 a0055	a0055c0049 a0055c0049	a0055c0049t0001 a0055c0049t0001	a0055c0049t0001g0086 a0055c0049t0001g0086	1	178	0.0056	c.466 others(4): Show c.4664A>G	p.Gln others(7): Show p.Gln1555Arg	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	4690/17188	4664/15177	1555/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48275332	T T	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.566 others(4): Show c.5666T>A	p.Ile others(7): Show p.Ile1889Lys	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	5692/17188	5666/15177	1889/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48275763	A A	G G	missense_variant missense_variant	MODERATE	HG00741.hp1 HG01070.hp2 HG01123.hp1 others(8): Show HG00741.hp1 HG01070.hp2 HG01123.hp1 HG01981.hp2 HG02083.hp1 HG02976.hp1 HG03492.hp2 NA18942.hp1 NA18991.hp2 NA19043.hp1 NA19060.hp2	a0003 a0027 a0085 a0003 a0027 a0085	a0003c0003 a0003c0004 a0027c0021 others(1): Show a0003c0003 a0003c0004 a0027c0021 a0085c0060	a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 others(3): Show a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0027c0021t0008 a0085c0060t0001	a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(8): Show a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0027c0021t0008g0056 a0027c0021t0008g0077 a0085c0060t0001g0100	11	178	0.0618	c.609 others(4): Show c.6097A>G	p.Asn others(7): Show p.Asn2033Asp	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	6123/17188	6097/15177	2033/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48276127	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.646 others(4): Show c.6461C>T	p.Ser others(7): Show p.Ser2154Leu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	6487/17188	6461/15177	2154/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48276199	C C	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(150): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(69): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 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 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0084 a0085 a0086 a0087 a0088	a0001c0001 a0001c0010 a0001c0103 others(92): Show a0001c0001 a0001c0010 a0001c0103 a0001c0104 a0002c0002 a0002c0022 a0002c0065 a0003c0003 a0003c0004 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0007c0011 a0007c0101 a0007c0102 a0008c0013 a0008c0032 a0009c0012 a0009c0107 a0010c0031 a0010c0033 a0011c0017 a0011c0044 a0011c0046 a0012c0016 a0012c0043 a0012c0045 a0013c0006 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0016c0094 a0016c0095 a0017c0096 a0017c0097 a0018c0029 a0019c0030 a0020c0034 a0020c0109 a0021c0028 a0022c0020 a0023c0018 a0027c0021 a0028c0015 a0029c0014 a0030c0042 a0031c0092 a0032c0114 a0033c0099 a0034c0105 a0035c0106 a0036c0098 a0037c0100 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0042c0113 a0043c0093 a0044c0058 a0045c0056 a0046c0057 a0047c0040 a0048c0041 a0049c0055 a0050c0054 a0051c0053 a0052c0052 a0053c0051 a0054c0048 a0055c0049 a0056c0050 a0057c0036 a0058c0035 a0060c0070 a0061c0074 a0062c0075 a0063c0071 a0064c0073 a0065c0091 a0066c0062 a0067c0068 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069 a0084c0061 a0085c0060 a0086c0059 a0087c0039 a0088c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(112): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0010t0001 a0001c0010t0002 a0001c0103t0006 a0001c0104t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0008c0013t0001 a0008c0013t0002 a0008c0013t0005 a0008c0032t0001 a0008c0032t0002 a0009c0012t0002 a0009c0107t0001 a0010c0031t0003 a0010c0033t0003 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0012c0016t0001 a0012c0043t0002 a0012c0045t0002 a0013c0006t0001 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0016c0094t0002 a0016c0095t0002 a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0018c0029t0004 a0019c0030t0003 a0020c0034t0003 a0020c0109t0001 a0021c0028t0003 a0022c0020t0001 a0022c0020t0005 a0023c0018t0001 a0023c0018t0004 a0027c0021t0008 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0030c0042t0004 a0031c0092t0004 a0032c0114t0004 a0033c0099t0002 a0034c0105t0005 a0035c0106t0005 a0036c0098t0001 a0037c0100t0001 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0042c0113t0003 a0043c0093t0002 a0044c0058t0001 a0045c0056t0002 a0046c0057t0001 a0047c0040t0001 a0048c0041t0004 a0049c0055t0003 a0050c0054t0002 a0051c0053t0004 a0052c0052t0001 a0053c0051t0001 a0054c0048t0004 a0055c0049t0001 a0056c0050t0004 a0057c0036t0007 a0058c0035t0002 a0060c0070t0003 a0061c0074t0001 a0062c0075t0005 a0063c0071t0005 a0064c0073t0005 a0065c0091t0001 a0066c0062t0003 a0067c0068t0002 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001 a0084c0061t0004 a0085c0060t0001 a0086c0059t0003 a0087c0039t0001 a0088c0037t0005	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(150): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0001g0177 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0004g0057 a0001c0001t0004g0164 a0001c0001t0006g0178 a0001c0010t0001g0050 a0001c0010t0001g0066 a0001c0010t0002g0074 a0001c0103t0006g0059 a0001c0104t0005g0044 a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0002t0004g0106 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0007c0102t0001g0020 a0008c0013t0001g0111 a0008c0013t0002g0088 a0008c0013t0005g0045 a0008c0032t0001g0079 a0008c0032t0002g0055 a0009c0012t0002g0052 a0009c0012t0002g0072 a0009c0012t0002g0094 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0016t0001g0087 a0012c0016t0001g0108 a0012c0043t0002g0098 a0012c0045t0002g0075 a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0016c0094t0002g0078 a0016c0095t0002g0043 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0018c0029t0004g0070 a0019c0030t0003g0038 a0019c0030t0003g0068 a0020c0034t0003g0117 a0020c0109t0001g0120 a0021c0028t0003g0005 a0021c0028t0003g0011 a0022c0020t0001g0007 a0022c0020t0005g0123 a0023c0018t0001g0110 a0023c0018t0004g0091 a0027c0021t0008g0056 a0027c0021t0008g0077 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0030c0042t0004g0073 a0031c0092t0004g0095 a0032c0114t0004g0082 a0033c0099t0002g0062 a0034c0105t0005g0037 a0035c0106t0005g0006 a0036c0098t0001g0069 a0037c0100t0001g0041 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0042c0113t0003g0093 a0043c0093t0002g0150 a0044c0058t0001g0101 a0045c0056t0002g0019 a0046c0057t0001g0001 a0047c0040t0001g0009 a0048c0041t0004g0039 a0049c0055t0003g0125 a0050c0054t0002g0015 a0051c0053t0004g0122 a0052c0052t0001g0097 a0053c0051t0001g0026 a0054c0048t0004g0159 a0055c0049t0001g0086 a0056c0050t0004g0099 a0057c0036t0007g0083 a0058c0035t0002g0157 a0060c0070t0003g0014 a0061c0074t0001g0022 a0062c0075t0005g0023 a0063c0071t0005g0105 a0064c0073t0005g0047 a0065c0091t0001g0109 a0066c0062t0003g0141 a0067c0068t0002g0061 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144 a0084c0061t0004g0013 a0085c0060t0001g0100 a0086c0059t0003g0172 a0087c0039t0001g0003 a0088c0037t0005g0092	153	178	0.8596	c.653 others(4): Show c.6533C>A	p.Ala others(7): Show p.Ala2178Glu	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	6559/17188	6533/15177	2178/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48276228	C C	T T	missense_variant missense_variant	MODERATE	NA18979.hp1 NA18979.hp1	a0042 a0042	a0042c0113 a0042c0113	a0042c0113t0003 a0042c0113t0003	a0042c0113t0003g0093 a0042c0113t0003g0093	1	178	0.0056	c.656 others(4): Show c.6562C>T	p.His others(7): Show p.His2188Tyr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	6588/17188	6562/15177	2188/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48276301	T T	C C	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.663 others(4): Show c.6635T>C	p.Leu others(7): Show p.Leu2212Ser	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	6661/17188	6635/15177	2212/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48276333	G G	C C	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01243.hp1 NA20805.hp1 HG01123.hp2 HG01243.hp1 NA20805.hp1	a0026 a0083 a0026 a0083	a0026c0026 a0083c0077 a0026c0026 a0083c0077	a0026c0026t0001 a0083c0077t0003 a0026c0026t0001 a0083c0077t0003	a0026c0026t0001g0053 a0026c0026t0001g0080 a0083c0077t0003g0046 a0026c0026t0001g0053 a0026c0026t0001g0080 a0083c0077t0003g0046	3	178	0.0169	c.666 others(4): Show c.6667G>C	p.Ala others(7): Show p.Ala2223Pro	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	17/62	6693/17188	6667/15177	2223/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278111	A A	C C	missense_variant missense_variant	MODERATE	HG00408.hp2 HG00558.hp1 HG00558.hp2 others(24): Show HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG01167.hp1 HG01169.hp2 HG01981.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02280.hp1 HG02572.hp1 HG02717.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 NA18944.hp2 NA18961.hp2 NA18977.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18998.hp1 NA19010.hp2 NA19030.hp2 NA19074.hp2 NA19083.hp1	a0002 a0005 a0006 others(7): Show a0002 a0005 a0006 a0066 a0067 a0068 a0069 a0070 a0071 a0072	a0002c0002 a0002c0022 a0002c0065 others(12): Show a0002c0002 a0002c0022 a0002c0065 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0066c0062 a0067c0068 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(17): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0066c0062t0003 a0067c0068t0002 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001	a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 others(24): Show a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0002t0004g0106 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0066c0062t0003g0141 a0067c0068t0002g0061 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144	27	178	0.1517	c.691 others(4): Show c.6917A>C	p.Lys others(7): Show p.Lys2306Thr	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	6943/17188	6917/15177	2306/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278239	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.704 others(4): Show c.7045G>A	p.Gly others(7): Show p.Gly2349Arg	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	7071/17188	7045/15177	2349/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278501	A A	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.730 others(4): Show c.7307A>G	p.Lys others(7): Show p.Lys2436Arg	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	7333/17188	7307/15177	2436/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278629	G G	A A	missense_variant missense_variant	MODERATE	NA18998.hp1 NA18998.hp1	a0066 a0066	a0066c0062 a0066c0062	a0066c0062t0003 a0066c0062t0003	a0066c0062t0003g0141 a0066c0062t0003g0141	1	178	0.0056	c.743 others(4): Show c.7435G>A	p.Val others(7): Show p.Val2479Ile	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	7461/17188	7435/15177	2479/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48278803	T T	G G	missense_variant missense_variant	MODERATE	HG02723.hp2 HG06807.hp1 HG02723.hp2 HG06807.hp1	a0057 a0058 a0057 a0058	a0057c0036 a0058c0035 a0057c0036 a0058c0035	a0057c0036t0007 a0058c0035t0002 a0057c0036t0007 a0058c0035t0002	a0057c0036t0007g0083 a0058c0035t0002g0157 a0057c0036t0007g0083 a0058c0035t0002g0157	2	178	0.0112	c.760 others(4): Show c.7609T>G	p.Ser others(7): Show p.Ser2537Ala	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	7635/17188	7609/15177	2537/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48279016	A A	G G	missense_variant missense_variant	MODERATE	HG02083.hp2 HG02083.hp2	a0041 a0041	a0041c0112 a0041c0112	a0041c0112t0011 a0041c0112t0011	a0041c0112t0011g0114 a0041c0112t0011g0114	1	178	0.0056	c.782 others(4): Show c.7822A>G	p.Ile others(7): Show p.Ile2608Val	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	7848/17188	7822/15177	2608/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48279214	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp2 HG00544.hp1 others(152): Show HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03834.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18953.hp1 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19074.hp1 NA19074.hp2 NA19083.hp1 NA19083.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(71): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0046 a0047 a0048 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088	a0001c0001 a0001c0010 a0001c0103 others(95): Show a0001c0001 a0001c0010 a0001c0103 a0001c0104 a0002c0002 a0002c0022 a0002c0065 a0003c0003 a0003c0004 a0005c0005 a0005c0024 a0006c0007 a0006c0023 a0006c0063 a0007c0011 a0007c0101 a0007c0102 a0008c0013 a0008c0032 a0009c0012 a0009c0107 a0010c0031 a0010c0033 a0011c0017 a0011c0044 a0011c0046 a0012c0016 a0012c0043 a0012c0045 a0014c0019 a0014c0047 a0015c0025 a0015c0076 a0016c0094 a0016c0095 a0017c0096 a0017c0097 a0018c0029 a0019c0030 a0020c0034 a0020c0109 a0021c0028 a0023c0018 a0024c0027 a0025c0085 a0025c0089 a0026c0026 a0027c0021 a0028c0015 a0029c0014 a0030c0042 a0031c0092 a0032c0114 a0033c0099 a0034c0105 a0035c0106 a0036c0098 a0037c0100 a0038c0108 a0039c0110 a0040c0111 a0041c0112 a0042c0113 a0043c0093 a0044c0058 a0046c0057 a0047c0040 a0048c0041 a0052c0052 a0053c0051 a0054c0048 a0055c0049 a0056c0050 a0057c0036 a0058c0035 a0060c0070 a0061c0074 a0062c0075 a0063c0071 a0064c0073 a0065c0091 a0066c0062 a0067c0068 a0068c0067 a0069c0066 a0070c0064 a0071c0038 a0072c0069 a0079c0087 a0080c0090 a0081c0086 a0082c0088 a0083c0077 a0084c0061 a0085c0060 a0086c0059 a0087c0039 a0088c0037	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(115): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0010t0001 a0001c0010t0002 a0001c0103t0006 a0001c0104t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0022t0002 a0002c0022t0004 a0002c0065t0006 a0003c0003t0004 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0005c0005t0003 a0005c0024t0001 a0005c0024t0003 a0006c0007t0002 a0006c0007t0003 a0006c0023t0003 a0006c0063t0001 a0007c0011t0003 a0007c0011t0007 a0007c0101t0003 a0007c0102t0001 a0008c0013t0001 a0008c0013t0002 a0008c0013t0005 a0008c0032t0001 a0008c0032t0002 a0009c0012t0002 a0009c0107t0001 a0010c0031t0003 a0010c0033t0003 a0011c0017t0002 a0011c0017t0003 a0011c0044t0001 a0011c0046t0002 a0012c0016t0001 a0012c0043t0002 a0012c0045t0002 a0014c0019t0002 a0014c0047t0001 a0015c0025t0003 a0015c0076t0001 a0016c0094t0002 a0016c0095t0002 a0017c0096t0001 a0017c0097t0001 a0018c0029t0001 a0018c0029t0004 a0019c0030t0003 a0020c0034t0003 a0020c0109t0001 a0021c0028t0003 a0023c0018t0001 a0023c0018t0004 a0024c0027t0001 a0024c0027t0006 a0025c0085t0004 a0025c0089t0012 a0026c0026t0001 a0027c0021t0008 a0028c0015t0004 a0029c0014t0005 a0029c0014t0010 a0030c0042t0004 a0031c0092t0004 a0032c0114t0004 a0033c0099t0002 a0034c0105t0005 a0035c0106t0005 a0036c0098t0001 a0037c0100t0001 a0038c0108t0001 a0039c0110t0007 a0040c0111t0006 a0041c0112t0011 a0042c0113t0003 a0043c0093t0002 a0044c0058t0001 a0046c0057t0001 a0047c0040t0001 a0048c0041t0004 a0052c0052t0001 a0053c0051t0001 a0054c0048t0004 a0055c0049t0001 a0056c0050t0004 a0057c0036t0007 a0058c0035t0002 a0060c0070t0003 a0061c0074t0001 a0062c0075t0005 a0063c0071t0005 a0064c0073t0005 a0065c0091t0001 a0066c0062t0003 a0067c0068t0002 a0068c0067t0009 a0069c0066t0001 a0070c0064t0001 a0071c0038t0005 a0072c0069t0001 a0079c0087t0002 a0080c0090t0005 a0081c0086t0009 a0082c0088t0005 a0083c0077t0003 a0084c0061t0004 a0085c0060t0001 a0086c0059t0003 a0087c0039t0001 a0088c0037t0005	a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 others(152): Show a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0001g0177 a0001c0001t0002g0054 a0001c0001t0002g0065 a0001c0001t0002g0085 a0001c0001t0004g0057 a0001c0001t0004g0164 a0001c0001t0006g0178 a0001c0010t0001g0050 a0001c0010t0001g0066 a0001c0010t0002g0074 a0001c0103t0006g0059 a0001c0104t0005g0044 a0002c0002t0001g0131 a0002c0002t0002g0156 a0002c0002t0002g0168 a0002c0002t0004g0106 a0002c0002t0004g0140 a0002c0022t0002g0124 a0002c0022t0004g0163 a0002c0065t0006g0128 a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 a0003c0003t0004g0036 a0003c0004t0001g0033 a0003c0004t0002g0032 a0003c0004t0002g0035 a0003c0004t0004g0030 a0005c0005t0003g0090 a0005c0005t0003g0102 a0005c0005t0003g0103 a0005c0005t0003g0132 a0005c0024t0001g0018 a0005c0024t0003g0107 a0006c0007t0002g0129 a0006c0007t0003g0121 a0006c0007t0003g0137 a0006c0023t0003g0138 a0006c0023t0003g0171 a0006c0063t0001g0010 a0007c0011t0003g0051 a0007c0011t0003g0130 a0007c0011t0007g0165 a0007c0101t0003g0139 a0007c0102t0001g0020 a0008c0013t0001g0111 a0008c0013t0002g0088 a0008c0013t0005g0045 a0008c0032t0001g0079 a0008c0032t0002g0055 a0009c0012t0002g0052 a0009c0012t0002g0072 a0009c0012t0002g0094 a0009c0107t0001g0112 a0010c0031t0003g0115 a0010c0031t0003g0118 a0010c0033t0003g0060 a0010c0033t0003g0071 a0011c0017t0002g0048 a0011c0017t0003g0067 a0011c0044t0001g0096 a0011c0046t0002g0089 a0012c0016t0001g0087 a0012c0016t0001g0108 a0012c0043t0002g0098 a0012c0045t0002g0075 a0014c0019t0002g0136 a0014c0019t0002g0175 a0014c0047t0001g0155 a0015c0025t0003g0024 a0015c0025t0003g0025 a0015c0076t0001g0021 a0016c0094t0002g0078 a0016c0095t0002g0043 a0017c0096t0001g0049 a0017c0097t0001g0084 a0018c0029t0001g0134 a0018c0029t0004g0070 a0019c0030t0003g0038 a0019c0030t0003g0068 a0020c0034t0003g0117 a0020c0109t0001g0120 a0021c0028t0003g0005 a0021c0028t0003g0011 a0023c0018t0001g0110 a0023c0018t0004g0091 a0024c0027t0001g0161 a0024c0027t0006g0162 a0025c0085t0004g0008 a0025c0089t0012g0154 a0026c0026t0001g0053 a0026c0026t0001g0080 a0027c0021t0008g0056 a0027c0021t0008g0077 a0028c0015t0004g0173 a0028c0015t0004g0176 a0029c0014t0005g0119 a0029c0014t0010g0174 a0030c0042t0004g0073 a0031c0092t0004g0095 a0032c0114t0004g0082 a0033c0099t0002g0062 a0034c0105t0005g0037 a0035c0106t0005g0006 a0036c0098t0001g0069 a0037c0100t0001g0041 a0038c0108t0001g0113 a0039c0110t0007g0126 a0040c0111t0006g0031 a0041c0112t0011g0114 a0042c0113t0003g0093 a0043c0093t0002g0150 a0044c0058t0001g0101 a0046c0057t0001g0001 a0047c0040t0001g0009 a0048c0041t0004g0039 a0052c0052t0001g0097 a0053c0051t0001g0026 a0054c0048t0004g0159 a0055c0049t0001g0086 a0056c0050t0004g0099 a0057c0036t0007g0083 a0058c0035t0002g0157 a0060c0070t0003g0014 a0061c0074t0001g0022 a0062c0075t0005g0023 a0063c0071t0005g0105 a0064c0073t0005g0047 a0065c0091t0001g0109 a0066c0062t0003g0141 a0067c0068t0002g0061 a0068c0067t0009g0142 a0069c0066t0001g0143 a0070c0064t0001g0127 a0071c0038t0005g0135 a0072c0069t0001g0144 a0079c0087t0002g0153 a0080c0090t0005g0104 a0081c0086t0009g0160 a0082c0088t0005g0152 a0083c0077t0003g0046 a0084c0061t0004g0013 a0085c0060t0001g0100 a0086c0059t0003g0172 a0087c0039t0001g0003 a0088c0037t0005g0092	155	178	0.8708	c.802 others(4): Show c.8020C>T	p.Arg others(7): Show p.Arg2674Trp	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	8046/17188	8020/15177	2674/5058	chr7	TogoVar
ABCA13_chr7_48166458_48652497	48279363	A A	G G	missense_variant missense_variant	MODERATE	HG02897.hp2 NA18906.hp1 HG02897.hp2 NA18906.hp1	a0039 a0040 a0039 a0040	a0039c0110 a0040c0111 a0039c0110 a0040c0111	a0039c0110t0007 a0040c0111t0006 a0039c0110t0007 a0040c0111t0006	a0039c0110t0007g0126 a0040c0111t0006g0031 a0039c0110t0007g0126 a0040c0111t0006g0031	2	178	0.0112	c.816 others(4): Show c.8169A>G	p.Ile others(7): Show p.Ile2723Met	ABCA13	ENSG00000179869.15	transcript	ENST00000435803.6	protein_coding	18/62	8195/17188	8169/15177	2723/5058	chr7	TogoVar

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