Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	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
ALDH3B2_chr11_67657155_67679623	67665383	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(370): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 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 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0020 a0021	a0001c0001 a0001c0007 a0001c0009 others(22): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0024 a0002c0002 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0014 a0011c0016 a0012c0018 a0013c0019 a0014c0020 a0015c0023 a0016c0021 a0017c0017 a0020c0028 a0021c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(36): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0024t0001 a0002c0002t0002 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0014t0016 a0010c0014t0017 a0011c0016t0006 a0012c0018t0018 a0013c0019t0001 a0014c0020t0001 a0015c0023t0001 a0016c0021t0001 a0017c0017t0009 a0020c0028t0002 a0021c0027t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(194): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0006g0196 a0001c0001t0007g0043 a0001c0001t0009g0144 a0001c0001t0011g0052 a0001c0001t0013g0137 a0001c0001t0015g0135 a0001c0007t0001g0022 a0001c0007t0001g0057 a0001c0007t0001g0060 a0001c0007t0001g0095 a0001c0007t0001g0099 a0001c0007t0012g0106 a0001c0009t0005g0086 a0001c0009t0005g0087 a0001c0009t0005g0088 a0001c0011t0001g0056 a0001c0011t0001g0058 a0001c0011t0001g0059 a0001c0015t0004g0049 a0001c0022t0001g0142 a0001c0024t0001g0153 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0027 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0176 a0002c0002t0002g0179 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0186 a0002c0002t0002g0187 a0002c0002t0002g0188 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0206 a0002c0002t0019g0175 a0002c0002t0021g0177 a0002c0002t0022g0184 a0002c0002t0023g0178 a0002c0002t0024g0211 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0033 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0170 a0005c0005t0001g0004 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0100 a0005c0005t0001g0110 a0005c0005t0001g0111 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0007c0008t0001g0029 a0007c0008t0001g0061 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067 a0009c0010t0001g0026 a0010c0014t0016g0084 a0010c0014t0017g0083 a0011c0016t0006g0050 a0012c0018t0018g0171 a0013c0019t0001g0107 a0014c0020t0001g0108 a0015c0023t0001g0162 a0016c0021t0001g0149 a0017c0017t0009g0133 a0020c0028t0002g0180 a0021c0027t0002g0174	373	390	0.9564	c.608 others(3): Show c.608A>G	p.His others(6): Show p.His203Arg	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	7/10	1040/2650	608/1158	203/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67665398	G G	A A	missense_variant missense_variant	MODERATE	HG01934.hp2 HG02109.hp1 HG02258.hp1 others(7): Show HG01934.hp2 HG02109.hp1 HG02258.hp1 HG02572.hp2 HG03098.hp1 HG03139.hp1 HG03453.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114	10	390	0.0256	c.593 others(3): Show c.593C>T	p.Ser others(6): Show p.Ser198Phe	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	7/10	1025/2650	593/1158	198/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67665552	C C	T T	missense_variant missense_variant	MODERATE	HG03453.hp2 NA18906.hp1 HG03453.hp2 NA18906.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0016 a0010c0014t0017 a0010c0014t0016 a0010c0014t0017	a0010c0014t0016g0084 a0010c0014t0017g0083 a0010c0014t0016g0084 a0010c0014t0017g0083	2	390	0.0051	c.439 others(3): Show c.439G>A	p.Val others(6): Show p.Val147Met	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	7/10	871/2650	439/1158	147/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67665573	C C	T T	missense_variant missense_variant	MODERATE	HG00280.hp1 HG00280.hp1	a0017 a0017	a0017c0017 a0017c0017	a0017c0017t0009 a0017c0017t0009	a0017c0017t0009g0133 a0017c0017t0009g0133	1	390	0.0026	c.418 others(3): Show c.418G>A	p.Asp others(6): Show p.Asp140Asn	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	7/10	850/2650	418/1158	140/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67666398	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 others(12): Show a0001 a0003 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017	a0001c0001 a0001c0007 a0001c0009 others(19): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0001c0015 a0001c0022 a0001c0024 a0003c0003 a0005c0005 a0006c0006 a0007c0008 a0008c0012 a0008c0013 a0009c0010 a0010c0014 a0011c0016 a0012c0018 a0013c0019 a0014c0020 a0015c0023 a0016c0021 a0017c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(28): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0013 a0001c0001t0015 a0001c0007t0001 a0001c0007t0012 a0001c0009t0005 a0001c0011t0001 a0001c0015t0004 a0001c0022t0001 a0001c0024t0001 a0003c0003t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0008c0012t0010 a0008c0013t0008 a0009c0010t0001 a0010c0014t0016 a0010c0014t0017 a0011c0016t0006 a0012c0018t0018 a0013c0019t0001 a0014c0020t0001 a0015c0023t0001 a0016c0021t0001 a0017c0017t0009	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(167): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0062 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0006g0196 a0001c0001t0007g0043 a0001c0001t0009g0144 a0001c0001t0011g0052 a0001c0001t0013g0137 a0001c0001t0015g0135 a0001c0007t0001g0022 a0001c0007t0001g0057 a0001c0007t0001g0060 a0001c0007t0001g0095 a0001c0007t0001g0099 a0001c0007t0012g0106 a0001c0009t0005g0086 a0001c0009t0005g0087 a0001c0009t0005g0088 a0001c0011t0001g0056 a0001c0011t0001g0058 a0001c0011t0001g0059 a0001c0015t0004g0049 a0001c0022t0001g0142 a0001c0024t0001g0153 a0003c0003t0001g0012 a0003c0003t0001g0021 a0003c0003t0001g0033 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0105 a0003c0003t0001g0170 a0005c0005t0001g0004 a0005c0005t0001g0092 a0005c0005t0001g0094 a0005c0005t0001g0100 a0005c0005t0001g0110 a0005c0005t0001g0111 a0006c0006t0001g0005 a0006c0006t0001g0112 a0006c0006t0001g0114 a0007c0008t0001g0029 a0007c0008t0001g0061 a0007c0008t0001g0063 a0007c0008t0001g0064 a0007c0008t0001g0065 a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067 a0009c0010t0001g0026 a0010c0014t0016g0084 a0010c0014t0017g0083 a0011c0016t0006g0050 a0012c0018t0018g0171 a0013c0019t0001g0107 a0014c0020t0001g0108 a0015c0023t0001g0162 a0016c0021t0001g0149 a0017c0017t0009g0133	335	390	0.8590	c.155 others(3): Show c.155G>A	p.Ser others(5): Show p.Ser52Asn	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	5/10	587/2650	155/1158	52/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67666577	C C	T T	missense_variant missense_variant	MODERATE	HG02074.hp1 NA18988.hp2 NA18999.hp1 HG02074.hp1 NA18988.hp2 NA18999.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0026 a0009c0010t0001g0026	3	390	0.0077	c.148 others(3): Show c.148G>A	p.Ala others(5): Show p.Ala50Thr	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	4/10	580/2650	148/1158	50/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67666607	T T	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02055.hp1 HG03195.hp2 others(1): Show HG01243.hp1 HG02055.hp1 HG03195.hp2 HG03209.hp2	a0008 a0008	a0008c0012 a0008c0013 a0008c0012 a0008c0013	a0008c0012t0010 a0008c0013t0008 a0008c0012t0010 a0008c0013t0008	a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 others(1): Show a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067	4	390	0.0103	c.118 others(3): Show c.118A>C	p.Thr others(5): Show p.Thr40Pro	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	4/10	550/2650	118/1158	40/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67666689	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp1 HG03195.hp2 HG02055.hp1 HG03195.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0010 a0008c0012t0010	a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0012t0010g0197 a0008c0012t0010g0198	2	390	0.0051	c.36G others(2): Show c.36G>A	p.Met others(5): Show p.Met12Ile	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	4/10	468/2650	36/1158	12/385	chr11	TogoVar
ALDH3B2_chr11_67657155_67679623	67666690	A A	G G	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02055.hp1 HG03195.hp2 others(1): Show HG01243.hp1 HG02055.hp1 HG03195.hp2 HG03209.hp2	a0008 a0008	a0008c0012 a0008c0013 a0008c0012 a0008c0013	a0008c0012t0010 a0008c0013t0008 a0008c0012t0010 a0008c0013t0008	a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 others(1): Show a0008c0012t0010g0197 a0008c0012t0010g0198 a0008c0013t0008g0066 a0008c0013t0008g0067	4	390	0.0103	c.35T others(2): Show c.35T>C	p.Met others(5): Show p.Met12Thr	ALDH3B2	ENSG00000132746.16	transcript	ENST00000673966.2	protein_coding	4/10	467/2650	35/1158	12/385	chr11	TogoVar
ALDH4A1_chr1_18866430_18907555	18872906	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02559.hp1 HG03486.hp2 others(1): Show HG01891.hp1 HG02559.hp1 HG03486.hp2 NA19240.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0004 a0005c0011t0004	a0005c0011t0004g0013 a0005c0011t0004g0322 a0005c0011t0004g0013 a0005c0011t0004g0322	4	406	0.0099	c.163 others(4): Show c.1631C>T	p.Pro others(6): Show p.Pro544Leu	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	15/15	1663/3139	1631/1692	544/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18872954	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp2 HG00323.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0001 a0013c0028t0001	a0013c0028t0001g0131 a0013c0028t0001g0131	1	406	0.0025	c.158 others(4): Show c.1583C>A	p.Thr others(6): Show p.Thr528Asn	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	15/15	1615/3139	1583/1692	528/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18875425	T T	C C	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 HG01106.hp1 others(18): Show HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01891.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03942.hp2 HG06807.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1	a0002 a0005 a0011 others(2): Show a0002 a0005 a0011 a0015 a0017	a0002c0008 a0002c0009 a0002c0017 others(4): Show a0002c0008 a0002c0009 a0002c0017 a0005c0011 a0011c0040 a0015c0032 a0017c0025	a0002c0008t0004 a0002c0008t0012 a0002c0008t0031 others(8): Show a0002c0008t0004 a0002c0008t0012 a0002c0008t0031 a0002c0008t0032 a0002c0009t0004 a0002c0009t0010 a0002c0017t0010 a0005c0011t0004 a0011c0040t0010 a0015c0032t0004 a0017c0025t0012	a0002c0008t0004g0176 a0002c0008t0004g0178 a0002c0008t0004g0192 others(13): Show a0002c0008t0004g0176 a0002c0008t0004g0178 a0002c0008t0004g0192 a0002c0008t0012g0142 a0002c0008t0012g0277 a0002c0008t0031g0332 a0002c0008t0032g0330 a0002c0009t0004g0008 a0002c0009t0004g0189 a0002c0009t0010g0197 a0002c0017t0010g0014 a0005c0011t0004g0013 a0005c0011t0004g0322 a0011c0040t0010g0319 a0015c0032t0004g0288 a0017c0025t0012g0077	21	406	0.0517	c.141 others(4): Show c.1417A>G	p.Thr others(6): Show p.Thr473Ala	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	13/15	1449/3139	1417/1692	473/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18875434	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00738.hp1 HG01099.hp1 others(9): Show HG00140.hp2 HG00738.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp2 HG01261.hp1 HG01261.hp2 HG02683.hp2 HG02735.hp1 HG03209.hp2 HG03471.hp1	a0003 a0008 a0003 a0008	a0003c0006 a0003c0034 a0003c0037 others(1): Show a0003c0006 a0003c0034 a0003c0037 a0008c0041	a0003c0006t0002 a0003c0034t0017 a0003c0037t0017 others(1): Show a0003c0006t0002 a0003c0034t0017 a0003c0037t0017 a0008c0041t0015	a0003c0006t0002g0027 a0003c0006t0002g0035 a0003c0006t0002g0158 others(7): Show a0003c0006t0002g0027 a0003c0006t0002g0035 a0003c0006t0002g0158 a0003c0006t0002g0159 a0003c0006t0002g0257 a0003c0006t0002g0259 a0003c0006t0002g0274 a0003c0034t0017g0308 a0003c0037t0017g0058 a0008c0041t0015g0337	12	406	0.0296	c.140 others(4): Show c.1408G>A	p.Val others(6): Show p.Val470Ile	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	13/15	1440/3139	1408/1692	470/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18875457	T T	G G	missense_variant missense_variant	MODERATE	HG03453.hp1 HG03453.hp1	a0014 a0014	a0014c0029 a0014c0029	a0014c0029t0035 a0014c0029t0035	a0014c0029t0035g0340 a0014c0029t0035g0340	1	406	0.0025	c.138 others(4): Show c.1385A>C	p.Lys others(6): Show p.Lys462Thr	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	13/15	1417/3139	1385/1692	462/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18877231	A A	G G	missense_variant missense_variant	MODERATE	HG00673.hp2 HG03942.hp2 HG00673.hp2 HG03942.hp2	a0015 a0016 a0015 a0016	a0015c0032 a0016c0027 a0015c0032 a0016c0027	a0015c0032t0004 a0016c0027t0001 a0015c0032t0004 a0016c0027t0001	a0015c0032t0004g0288 a0016c0027t0001g0124 a0015c0032t0004g0288 a0016c0027t0001g0124	2	406	0.0049	c.116 others(4): Show c.1162T>C	p.Phe others(6): Show p.Phe388Leu	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/15	1194/3139	1162/1692	388/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18877457	C C	T T	missense_variant missense_variant	MODERATE	HG02738.hp2 HG03017.hp2 HG03831.hp2 HG02738.hp2 HG03017.hp2 HG03831.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0008 a0006c0012t0001 a0006c0012t0008	a0006c0012t0001g0151 a0006c0012t0001g0152 a0006c0012t0008g0153 a0006c0012t0001g0151 a0006c0012t0001g0152 a0006c0012t0008g0153	3	406	0.0074	c.109 others(4): Show c.1096G>A	p.Gly others(6): Show p.Gly366Arg	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	10/15	1128/3139	1096/1692	366/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18877586	C C	T T	missense_variant missense_variant	MODERATE	NA18971.hp1 NA18971.hp1	a0012 a0012	a0012c0026 a0012c0026	a0012c0026t0001 a0012c0026t0001	a0012c0026t0001g0101 a0012c0026t0001g0101	1	406	0.0025	c.967 others(3): Show c.967G>A	p.Val others(6): Show p.Val323Met	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	10/15	999/3139	967/1692	323/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18883298	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp1 HG02559.hp1 HG03209.hp1 others(2): Show HG01891.hp1 HG02559.hp1 HG03209.hp1 HG03486.hp2 NA19240.hp1	a0005 a0011 a0005 a0011	a0005c0011 a0011c0040 a0005c0011 a0011c0040	a0005c0011t0004 a0011c0040t0010 a0005c0011t0004 a0011c0040t0010	a0005c0011t0004g0013 a0005c0011t0004g0322 a0011c0040t0010g0319 a0005c0011t0004g0013 a0005c0011t0004g0322 a0011c0040t0010g0319	5	406	0.0123	c.584 others(3): Show c.584C>T	p.Thr others(6): Show p.Thr195Met	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	6/15	616/3139	584/1692	195/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18885493	C C	T T	missense_variant missense_variant	MODERATE	HG02818.hp1 HG02922.hp1 HG03041.hp1 HG02818.hp1 HG02922.hp1 HG03041.hp1	a0007 a0017 a0007 a0017	a0007c0014 a0017c0025 a0007c0014 a0017c0025	a0007c0014t0005 a0017c0025t0012 a0007c0014t0005 a0017c0025t0012	a0007c0014t0005g0021 a0017c0025t0012g0077 a0007c0014t0005g0021 a0017c0025t0012g0077	3	406	0.0074	c.433 others(3): Show c.433G>A	p.Ala others(6): Show p.Ala145Thr	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	5/15	465/3139	433/1692	145/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18889367	C C	T T	missense_variant missense_variant	MODERATE	HG02055.hp2 HG02055.hp2	a0010 a0010	a0010c0024 a0010c0024	a0010c0024t0002 a0010c0024t0002	a0010c0024t0002g0066 a0010c0024t0002g0066	1	406	0.0025	c.244 others(3): Show c.244G>A	p.Val others(5): Show p.Val82Met	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	3/15	276/3139	244/1692	82/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18889412	C C	T T	missense_variant missense_variant	MODERATE	HG00642.hp1 HG00642.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0118 a0009c0022t0001g0118	1	406	0.0025	c.199 others(3): Show c.199G>A	p.Val others(5): Show p.Val67Met	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	3/15	231/3139	199/1692	67/563	chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18902477	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01109.hp1 HG01123.hp1 others(4): Show HG00099.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01433.hp2 HG02004.hp2 HG02735.hp1	a0004 a0008 a0004 a0008	a0004c0018 a0004c0019 a0004c0020 others(1): Show a0004c0018 a0004c0019 a0004c0020 a0008c0041	a0004c0018t0014 a0004c0019t0013 a0004c0019t0014 others(2): Show a0004c0018t0014 a0004c0019t0013 a0004c0019t0014 a0004c0020t0013 a0008c0041t0015	a0004c0018t0014g0338 a0004c0018t0014g0339 a0004c0019t0013g0336 others(4): Show a0004c0018t0014g0338 a0004c0018t0014g0339 a0004c0019t0013g0336 a0004c0019t0014g0333 a0004c0020t0013g0334 a0004c0020t0013g0335 a0008c0041t0015g0337	7	406	0.0172	c.47C others(2): Show c.47C>T	p.Pro others(5): Show p.Pro16Leu	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	1/15	79/3139	47/1692	16/563	chr1	TogoVar
ALDH5A1_chr6_24489969_24542207	24495102	G G	C C	missense_variant missense_variant	MODERATE	HG00423.hp1 HG01261.hp2 HG01496.hp1 others(32): Show HG00423.hp1 HG01261.hp2 HG01496.hp1 HG02056.hp2 HG02602.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18946.hp1 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19072.hp2 NA19078.hp2 NA20905.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0003c0005 a0006c0004 a0003c0003 a0003c0005 a0006c0004	a0003c0003t0001 a0003c0003t0027 a0003c0003t0033 others(2): Show a0003c0003t0001 a0003c0003t0027 a0003c0003t0033 a0003c0005t0001 a0006c0004t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 others(32): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0116 a0003c0003t0027g0038 a0003c0003t0033g0034 a0003c0005t0001g0027 a0003c0005t0001g0032 a0006c0004t0001g0023 a0006c0004t0001g0024	35	368	0.0951	c.106 others(3): Show c.106G>C	p.Gly others(5): Show p.Gly36Arg	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	1/10	134/5131	106/1608	36/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24495126	C C	G G	missense_variant missense_variant	MODERATE	NA19030.hp2 NA19030.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0017 a0013c0017t0017	a0013c0017t0017g0117 a0013c0017t0017g0117	1	368	0.0027	c.130 others(3): Show c.130C>G	p.Leu others(5): Show p.Leu44Val	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	1/10	158/5131	130/1608	44/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24495210	G G	A A	missense_variant missense_variant	MODERATE	HG01433.hp1 HG01433.hp1	a0012 a0012	a0012c0008 a0012c0008	a0012c0008t0001 a0012c0008t0001	a0012c0008t0001g0210 a0012c0008t0001g0210	1	368	0.0027	c.214 others(3): Show c.214G>A	p.Ala others(5): Show p.Ala72Thr	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	1/10	242/5131	214/1608	72/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24503362	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(110): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp1 HG02056.hp2 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA18941.hp1 NA18945.hp1 NA18946.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp2 NA19062.hp1 NA19067.hp2 NA19072.hp2 NA19078.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0009 a0010 a0011 a0013	a0002c0002 a0002c0015 a0003c0003 others(6): Show a0002c0002 a0002c0015 a0003c0003 a0003c0005 a0005c0007 a0009c0012 a0010c0013 a0011c0014 a0013c0017	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(20): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0007 a0002c0002t0009 a0002c0002t0012 a0002c0002t0018 a0002c0002t0019 a0002c0002t0020 a0002c0002t0026 a0002c0015t0013 a0003c0003t0001 a0003c0003t0027 a0003c0003t0033 a0003c0005t0001 a0005c0007t0002 a0009c0012t0012 a0010c0013t0030 a0011c0014t0002 a0013c0017t0017	a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0080 others(108): Show a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0122 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0058 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0092 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0109 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0118 a0002c0002t0003g0341 a0002c0002t0003g0342 a0002c0002t0003g0343 a0002c0002t0003g0344 a0002c0002t0003g0345 a0002c0002t0003g0346 a0002c0002t0004g0098 a0002c0002t0004g0108 a0002c0002t0005g0059 a0002c0002t0005g0060 a0002c0002t0005g0063 a0002c0002t0005g0064 a0002c0002t0005g0065 a0002c0002t0005g0067 a0002c0002t0006g0099 a0002c0002t0006g0100 a0002c0002t0006g0101 a0002c0002t0006g0102 a0002c0002t0006g0103 a0002c0002t0007g0068 a0002c0002t0007g0123 a0002c0002t0009g0104 a0002c0002t0009g0106 a0002c0002t0009g0107 a0002c0002t0009g0121 a0002c0002t0012g0022 a0002c0002t0018g0070 a0002c0002t0019g0119 a0002c0002t0020g0066 a0002c0002t0026g0069 a0002c0015t0013g0110 a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0116 a0003c0003t0027g0038 a0003c0003t0033g0034 a0003c0005t0001g0027 a0003c0005t0001g0032 a0005c0007t0002g0072 a0005c0007t0002g0090 a0009c0012t0012g0021 a0010c0013t0030g0124 a0011c0014t0002g0105 a0013c0017t0017g0117	113	368	0.3071	c.538 others(3): Show c.538C>T	p.His others(6): Show p.His180Tyr	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	3/10	566/5131	538/1608	180/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24503369	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp1 HG01261.hp2 HG01496.hp1 others(30): Show HG00423.hp1 HG01261.hp2 HG01496.hp1 HG02056.hp2 HG02602.hp2 HG02683.hp1 HG03490.hp2 HG03492.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04204.hp1 NA18946.hp1 NA18960.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19056.hp1 NA19058.hp2 NA19067.hp2 NA19072.hp2 NA19078.hp2 NA20905.hp2	a0003 a0003	a0003c0003 a0003c0005 a0003c0003 a0003c0005	a0003c0003t0001 a0003c0003t0027 a0003c0003t0033 others(1): Show a0003c0003t0001 a0003c0003t0027 a0003c0003t0033 a0003c0005t0001	a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 others(30): Show a0003c0003t0001g0015 a0003c0003t0001g0016 a0003c0003t0001g0017 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0033 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0116 a0003c0003t0027g0038 a0003c0003t0033g0034 a0003c0005t0001g0027 a0003c0005t0001g0032	33	368	0.0897	c.545 others(3): Show c.545C>T	p.Pro others(6): Show p.Pro182Leu	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	3/10	573/5131	545/1608	182/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24503429	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0025 a0007c0011t0025	a0007c0011t0025g0257 a0007c0011t0025g0257	1	368	0.0027	c.605 others(3): Show c.605C>T	p.Thr others(6): Show p.Thr202Ile	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	3/10	633/5131	605/1608	202/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24504968	G G	T T	missense_variant missense_variant	MODERATE	HG01071.hp1 HG01071.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0205 a0008c0010t0001g0205	1	368	0.0027	c.709 others(3): Show c.709G>T	p.Ala others(6): Show p.Ala237Ser	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	4/10	737/5131	709/1608	237/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24520416	G G	A A	missense_variant missense_variant	MODERATE	HG01109.hp2 HG01928.hp2 HG01109.hp2 HG01928.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0002 a0005c0007t0002	a0005c0007t0002g0072 a0005c0007t0002g0090 a0005c0007t0002g0072 a0005c0007t0002g0090	2	368	0.0054	c.886 others(3): Show c.886G>A	p.Ala others(6): Show p.Ala296Thr	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/10	914/5131	886/1608	296/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24520491	G G	A A	missense_variant missense_variant	MODERATE	HG01346.hp2 HG01346.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0012 a0009c0012t0012	a0009c0012t0012g0021 a0009c0012t0012g0021	1	368	0.0027	c.961 others(3): Show c.961G>A	p.Val others(6): Show p.Val321Met	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/10	989/5131	961/1608	321/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24528021	G G	A A	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0030 a0010c0013t0030	a0010c0013t0030g0124 a0010c0013t0030g0124	1	368	0.0027	c.119 others(4): Show c.1198G>A	p.Val others(6): Show p.Val400Ile	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	8/10	1226/5131	1198/1608	400/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24528131	T T	G G	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0105 a0011c0014t0002g0105	1	368	0.0027	c.130 others(4): Show c.1308T>G	p.His others(6): Show p.His436Gln	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	8/10	1336/5131	1308/1608	436/535	chr6	TogoVar
ALDH5A1_chr6_24489969_24542207	24532123	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03225.hp2 HG03209.hp2 HG03225.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0131 a0004c0006t0002g0327 a0004c0006t0002g0131 a0004c0006t0002g0327	2	368	0.0054	c.134 others(4): Show c.1348G>A	p.Asp others(6): Show p.Asp450Asn	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	9/10	1376/5131	1348/1608	450/535	chr6	TogoVar
ALDH6A1_chr14_74051847_74089453	74060646	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0038 a0003c0003t0002 a0003c0003t0038	a0003c0003t0002g0248 a0003c0003t0038g0220 a0003c0003t0002g0248 a0003c0003t0038g0220	2	402	0.0050	c.160 others(4): Show c.1604G>A	p.Arg others(6): Show p.Arg535His	ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	12/12	1663/5462	1604/1608	535/535	chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74068957	G G	A A	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01192.hp1 HG01070.hp1 HG01192.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0198 a0002c0004t0001g0211 a0002c0004t0001g0198 a0002c0004t0001g0211	2	402	0.0050	c.755 others(3): Show c.755C>T	p.Pro others(6): Show p.Pro252Leu	ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	7/12	814/5462	755/1608	252/535	chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74072252	C C	T T	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00597.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0075 a0004c0006t0001g0075	1	402	0.0025	c.299 others(3): Show c.299G>A	p.Ser others(6): Show p.Ser100Asn	ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	4/12	358/5462	299/1608	100/535	chr14	TogoVar
ALDH6A1_chr14_74051847_74089453	74084351	A A	T T	missense_variant missense_variant	MODERATE	HG04204.hp2 HG04204.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0044 a0005c0005t0004g0044	1	402	0.0025	c.44T others(2): Show c.44T>A	p.Leu others(5): Show p.Leu15Gln	ALDH6A1	ENSG00000119711.13	transcript	ENST00000553458.6	protein_coding	1/12	103/5462	44/1608	15/535	chr14	TogoVar
ALDH7A1_chr5_126536841_126600219	126552023	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp2 HG00544.hp1 HG00558.hp1 others(35): Show HG00099.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00673.hp1 HG01069.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp2 HG02145.hp2 HG03654.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18944.hp1 NA18950.hp2 NA18964.hp2 NA18975.hp2 NA18980.hp2 NA18982.hp1 NA18990.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19057.hp1 NA19064.hp2 NA19066.hp2 NA19082.hp1	a0002 a0009 a0002 a0009	a0002c0002 a0009c0011 a0002c0002 a0009c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0010 a0002c0002t0012 a0002c0002t0025 a0009c0011t0002	a0002c0002t0001g0001 a0002c0002t0001g0186 a0002c0002t0001g0200 others(34): Show a0002c0002t0001g0001 a0002c0002t0001g0186 a0002c0002t0001g0200 a0002c0002t0001g0229 a0002c0002t0001g0257 a0002c0002t0001g0302 a0002c0002t0001g0337 a0002c0002t0001g0354 a0002c0002t0001g0359 a0002c0002t0001g0360 a0002c0002t0002g0048 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0068 a0002c0002t0002g0077 a0002c0002t0002g0082 a0002c0002t0002g0085 a0002c0002t0002g0097 a0002c0002t0002g0175 a0002c0002t0002g0203 a0002c0002t0002g0237 a0002c0002t0002g0245 a0002c0002t0002g0323 a0002c0002t0003g0061 a0002c0002t0003g0067 a0002c0002t0003g0303 a0002c0002t0003g0313 a0002c0002t0004g0009 a0002c0002t0004g0041 a0002c0002t0004g0076 a0002c0002t0004g0188 a0002c0002t0004g0374 a0002c0002t0006g0113 a0002c0002t0010g0084 a0002c0002t0012g0242 a0002c0002t0025g0256 a0009c0011t0002g0261	38	380	0.1000	c.131 others(4): Show c.1315A>C	p.Lys others(6): Show p.Lys439Gln	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	14/18	1336/4765	1315/1620	439/539	chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126552104	T T	C C	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00544.hp2 HG00609.hp2 others(11): Show HG00423.hp2 HG00544.hp2 HG00609.hp2 HG00621.hp1 HG02015.hp2 HG03927.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18977.hp2 NA18997.hp2 NA19011.hp1 NA19055.hp2 NA19056.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 others(2): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0005 a0003c0005t0015 a0003c0005t0019	a0003c0005t0001g0034 a0003c0005t0001g0035 a0003c0005t0001g0093 others(11): Show a0003c0005t0001g0034 a0003c0005t0001g0035 a0003c0005t0001g0093 a0003c0005t0001g0316 a0003c0005t0001g0317 a0003c0005t0001g0320 a0003c0005t0002g0047 a0003c0005t0002g0341 a0003c0005t0002g0342 a0003c0005t0002g0363 a0003c0005t0005g0142 a0003c0005t0015g0033 a0003c0005t0015g0318 a0003c0005t0019g0071	14	380	0.0368	c.123 others(4): Show c.1234A>G	p.Thr others(6): Show p.Thr412Ala	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	14/18	1255/4765	1234/1620	412/539	chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126555940	G G	A A	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0057 a0007c0010t0001g0057	1	380	0.0026	c.108 others(4): Show c.1084C>T	p.Pro others(6): Show p.Pro362Ser	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	12/18	1105/4765	1084/1620	362/539	chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126575433	C C	T T	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0002 a0006c0008t0002	a0006c0008t0002g0080 a0006c0008t0002g0080	1	380	0.0026	c.682 others(3): Show c.682G>A	p.Val others(6): Show p.Val228Met	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	7/18	703/4765	682/1620	228/539	chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126582874	C C	G G	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0005 a0005c0007t0005	a0005c0007t0005g0161 a0005c0007t0005g0161	1	380	0.0026	c.494 others(3): Show c.494G>C	p.Gly others(6): Show p.Gly165Ala	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	5/18	515/4765	494/1620	165/539	chr5	TogoVar
ALDH7A1_chr5_126536841_126600219	126583952	T T	C C	missense_variant missense_variant	MODERATE	HG01952.hp1 HG02083.hp2 NA18952.hp2 others(2): Show HG01952.hp1 HG02083.hp2 NA18952.hp2 NA18963.hp1 NA18999.hp1	a0004 a0009 a0004 a0009	a0004c0006 a0009c0011 a0004c0006 a0009c0011	a0004c0006t0002 a0004c0006t0018 a0009c0011t0002 a0004c0006t0002 a0004c0006t0018 a0009c0011t0002	a0004c0006t0002g0214 a0004c0006t0002g0215 a0004c0006t0002g0217 others(2): Show a0004c0006t0002g0214 a0004c0006t0002g0215 a0004c0006t0002g0217 a0004c0006t0018g0216 a0009c0011t0002g0261	5	380	0.0132	c.373 others(3): Show c.373A>G	p.Ile others(6): Show p.Ile125Val	ALDH7A1	ENSG00000164904.18	transcript	ENST00000409134.8	protein_coding	4/18	394/4765	373/1620	125/539	chr5	TogoVar
ALDH8A1_chr6_134912393_134955101	134918620	G G	C C	missense_variant missense_variant	MODERATE	HG02004.hp1 HG02004.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0118 a0004c0008t0001g0118	1	370	0.0027	c.125 others(4): Show c.1259C>G	p.Ala others(6): Show p.Ala420Gly	ALDH8A1	ENSG00000118514.14	transcript	ENST00000265605.7	protein_coding	7/7	1307/2534	1259/1464	420/487	chr6	TogoVar
ALDH8A1_chr6_134912393_134955101	134949920	T T	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0197 a0005c0011t0001g0197	1	370	0.0027	c.134 others(3): Show c.134A>G	p.Asp others(5): Show p.Asp45Gly	ALDH8A1	ENSG00000118514.14	transcript	ENST00000265605.7	protein_coding	1/7	182/2534	134/1464	45/487	chr6	TogoVar
ALDH8A1_chr6_134912393_134955101	134949935	G G	A A	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0198 a0003c0012t0001g0198	1	370	0.0027	c.119 others(3): Show c.119C>T	p.Pro others(5): Show p.Pro40Leu	ALDH8A1	ENSG00000118514.14	transcript	ENST00000265605.7	protein_coding	1/7	167/2534	119/1464	40/487	chr6	TogoVar
ALDH8A1_chr6_134912393_134955101	134950040	T T	C C	missense_variant missense_variant	MODERATE	HG02630.hp1 HG02723.hp2 HG02897.hp2 others(3): Show HG02630.hp1 HG02723.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0013 a0002c0003 a0002c0013	a0002c0003t0002 a0002c0003t0005 a0002c0013t0008 a0002c0003t0002 a0002c0003t0005 a0002c0013t0008	a0002c0003t0002g0043 a0002c0003t0002g0202 a0002c0003t0005g0199 others(2): Show a0002c0003t0002g0043 a0002c0003t0002g0202 a0002c0003t0005g0199 a0002c0003t0005g0201 a0002c0013t0008g0200	6	370	0.0162	c.14A others(2): Show c.14A>G	p.Asn others(4): Show p.Asn5Ser	ALDH8A1	ENSG00000118514.14	transcript	ENST00000265605.7	protein_coding	1/7	62/2534	14/1464	5/487	chr6	TogoVar
ALDH9A1_chr1_165657216_165703562	165665099	C C	T T	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01106.hp2 NA20752.hp2 others(1): Show HG01099.hp1 HG01106.hp2 NA20752.hp2 NA20905.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0034 a0004c0009t0001g0139 a0004c0009t0001g0140 others(1): Show a0004c0009t0001g0034 a0004c0009t0001g0139 a0004c0009t0001g0140 a0004c0009t0001g0141	4	332	0.0121	c.138 others(4): Show c.1381G>A	p.Glu others(6): Show p.Glu461Lys	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	10/11	1385/2395	1381/1557	461/518	chr1	TogoVar
ALDH9A1_chr1_165657216_165703562	165679473	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp2 HG01884.hp1 HG02300.hp1 others(3): Show HG00140.hp2 HG01884.hp1 HG02300.hp1 HG03704.hp2 HG03834.hp2 NA18979.hp2	a0003 a0003	a0003c0007 a0003c0015 a0003c0007 a0003c0015	a0003c0007t0001 a0003c0015t0001 a0003c0007t0001 a0003c0015t0001	a0003c0007t0001g0013 a0003c0007t0001g0056 a0003c0007t0001g0057 others(2): Show a0003c0007t0001g0013 a0003c0007t0001g0056 a0003c0007t0001g0057 a0003c0007t0001g0072 a0003c0015t0001g0058	6	332	0.0181	c.899 others(3): Show c.899C>T	p.Ala others(6): Show p.Ala300Val	ALDH9A1	ENSG00000143149.13	transcript	ENST00000354775.5	protein_coding	6/11	903/2395	899/1557	300/518	chr1	TogoVar

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