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
ACAT2_chr6_159757045_159784112	159775311	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(136): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02109.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18949.hp1 NA18949.hp2 NA18967.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18987.hp1 NA18991.hp2 NA18992.hp1 NA18995.hp2 NA18997.hp1 NA19004.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19083.hp1 NA19086.hp2 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 others(1): Show a0002c0003t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003	a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0011 others(67): Show a0002c0003t0001g0003 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0013 a0002c0003t0001g0020 a0002c0003t0001g0034 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0037 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0105 a0002c0003t0001g0106 a0002c0003t0001g0107 a0002c0003t0001g0108 a0002c0003t0001g0109 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0119 a0002c0003t0001g0120 a0002c0003t0001g0121 a0002c0003t0001g0123 a0002c0003t0001g0124 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0128 a0002c0003t0001g0130 a0002c0004t0001g0007 a0002c0004t0001g0021 a0002c0004t0001g0022 a0002c0004t0001g0023 a0002c0004t0001g0025 a0002c0004t0001g0038 a0002c0004t0001g0040 a0002c0004t0001g0122 a0002c0004t0001g0131 a0002c0004t0001g0132 a0002c0004t0001g0133 a0002c0004t0001g0134 a0002c0004t0001g0135 a0002c0004t0001g0136 a0002c0004t0001g0137 a0002c0004t0001g0138 a0002c0004t0001g0139 a0002c0004t0001g0140 a0002c0004t0001g0141 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0144 a0002c0004t0001g0145 a0002c0004t0001g0146 a0002c0004t0001g0147 a0002c0004t0001g0148 a0002c0004t0001g0149 a0002c0004t0001g0150 a0002c0004t0002g0062 a0002c0004t0003g0021 a0002c0004t0003g0110 a0002c0004t0003g0129	139	404	0.3441	c.632 others(3): Show c.632A>G	p.Lys others(6): Show p.Lys211Arg	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	5/9	675/1520	632/1194	211/397	chr6	TogoVar
ACAT2_chr6_159757045_159784112	159777395	C C	G G	missense_variant missense_variant	MODERATE	NA18986.hp1 NA18986.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0001 a0003c0007t0002g0001	1	404	0.0025	c.851 others(3): Show c.851C>G	p.Ser others(6): Show p.Ser284Cys	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	7/9	894/1520	851/1194	284/397	chr6	TogoVar
ACAT2_chr6_159757045_159784112	159778225	C C	G G	missense_variant missense_variant	MODERATE	NA18985.hp2 NA18985.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0161 a0004c0006t0001g0161	1	404	0.0025	c.968 others(3): Show c.968C>G	p.Ala others(6): Show p.Ala323Gly	ACAT2	ENSG00000120437.9	transcript	ENST00000367048.5	protein_coding	8/9	1011/1520	968/1194	323/397	chr6	TogoVar
ACBD3_chr1_226139679_226191741	226154745	A A	G G	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02572.hp2 HG02109.hp2 HG02572.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0200 a0005c0005t0001g0218 a0005c0005t0001g0200 a0005c0005t0001g0218	2	396	0.0051	c.992 others(3): Show c.992T>C	p.Met others(6): Show p.Met331Thr	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	6/8	1058/3584	992/1587	331/528	chr1	TogoVar
ACBD3_chr1_226139679_226191741	226154826	A A	G G	missense_variant missense_variant	MODERATE	HG02293.hp2 HG02293.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0133 a0007c0007t0001g0133	1	396	0.0025	c.911 others(3): Show c.911T>C	p.Leu others(6): Show p.Leu304Ser	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	6/8	977/3584	911/1587	304/528	chr1	TogoVar
ACBD3_chr1_226139679_226191741	226161567	C C	T T	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18983.hp2 NA19085.hp1 NA18965.hp2 NA18983.hp2 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0289 a0003c0003t0002g0292 a0003c0003t0002g0294 a0003c0003t0002g0289 a0003c0003t0002g0292 a0003c0003t0002g0294	3	396	0.0076	c.692 others(3): Show c.692G>A	p.Arg others(6): Show p.Arg231Gln	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	4/8	758/3584	692/1587	231/528	chr1	TogoVar
ACBD3_chr1_226139679_226191741	226164797	T T	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00323.hp1 HG00423.hp2 others(184): Show HG00280.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18963.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18993.hp2 NA18994.hp1 NA18995.hp2 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0005 a0007 a0002 a0005 a0007	a0002c0002 a0002c0009 a0002c0011 others(2): Show a0002c0002 a0002c0009 a0002c0011 a0005c0005 a0007c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0006 a0002c0002t0008 a0002c0002t0011 a0002c0002t0012 a0002c0009t0001 a0002c0011t0001 a0005c0005t0001 a0007c0007t0001	a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 others(178): Show a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0165 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0168 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0171 a0002c0002t0001g0172 a0002c0002t0001g0173 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0178 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0328 a0002c0002t0001g0329 a0002c0002t0001g0330 a0002c0002t0002g0155 a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0080 a0002c0002t0003g0081 a0002c0002t0003g0082 a0002c0002t0003g0083 a0002c0002t0003g0084 a0002c0002t0003g0085 a0002c0002t0003g0086 a0002c0002t0003g0087 a0002c0002t0003g0088 a0002c0002t0003g0089 a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0003g0092 a0002c0002t0003g0093 a0002c0002t0003g0094 a0002c0002t0003g0095 a0002c0002t0003g0096 a0002c0002t0003g0097 a0002c0002t0003g0098 a0002c0002t0003g0099 a0002c0002t0003g0100 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0103 a0002c0002t0003g0104 a0002c0002t0003g0105 a0002c0002t0003g0106 a0002c0002t0003g0107 a0002c0002t0003g0108 a0002c0002t0003g0109 a0002c0002t0003g0110 a0002c0002t0003g0111 a0002c0002t0003g0113 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0120 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0124 a0002c0002t0003g0125 a0002c0002t0003g0126 a0002c0002t0003g0127 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0252 a0002c0002t0003g0253 a0002c0002t0003g0254 a0002c0002t0006g0315 a0002c0002t0006g0316 a0002c0002t0008g0188 a0002c0002t0008g0189 a0002c0002t0011g0076 a0002c0002t0012g0227 a0002c0009t0001g0373 a0002c0011t0001g0375 a0005c0005t0001g0200 a0005c0005t0001g0218 a0007c0007t0001g0133	187	396	0.4722	c.561 others(3): Show c.561A>C	p.Glu others(6): Show p.Glu187Asp	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	3/8	627/3584	561/1587	187/528	chr1	TogoVar
ACBD3_chr1_226139679_226191741	226164898	T T	C C	missense_variant missense_variant	MODERATE	HG01361.hp2 HG01516.hp1 HG01361.hp2 HG01516.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0050 a0004c0006t0001g0052 a0004c0006t0001g0050 a0004c0006t0001g0052	2	396	0.0051	c.460 others(3): Show c.460A>G	p.Lys others(6): Show p.Lys154Glu	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	3/8	526/3584	460/1587	154/528	chr1	TogoVar
ACBD3_chr1_226139679_226191741	226186411	G G	C C	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0372 a0008c0008t0001g0372	1	396	0.0025	c.265 others(3): Show c.265C>G	p.Leu others(5): Show p.Leu89Val	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/8	331/3584	265/1587	89/528	chr1	TogoVar
ACBD3_chr1_226139679_226191741	226186651	G G	C C	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0374 a0006c0010t0002g0374	1	396	0.0025	c.25C others(2): Show c.25C>G	p.Arg others(4): Show p.Arg9Gly	ACBD3	ENSG00000182827.9	transcript	ENST00000366812.6	protein_coding	1/8	91/3584	25/1587	9/528	chr1	TogoVar
ACBD4_chr17_45130687_45149176	45136148	G G	T T	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18957.hp1 NA18992.hp2 others(2): Show NA18953.hp2 NA18957.hp1 NA18992.hp2 NA19063.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0012 a0003c0003t0001g0065 others(1): Show a0003c0003t0001g0004 a0003c0003t0001g0012 a0003c0003t0001g0065 a0003c0003t0001g0066	5	452	0.0111	c.4G> others(1): Show c.4G>T	p.Gly others(4): Show p.Gly2Cys	ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding	2/10	308/1827	4/918	2/305	chr17	TogoVar
ACBD4_chr17_45130687_45149176	45137025	G G	A A	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0004 a0006c0006t0001g0004	1	452	0.0022	c.301 others(3): Show c.301G>A	p.Asp others(6): Show p.Asp101Asn	ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding	5/10	605/1827	301/918	101/305	chr17	TogoVar
ACBD4_chr17_45130687_45149176	45137801	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0078 a0005c0007t0001g0078	1	452	0.0022	c.544 others(3): Show c.544G>A	p.Asp others(6): Show p.Asp182Asn	ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding	7/10	848/1827	544/918	182/305	chr17	TogoVar
ACBD4_chr17_45130687_45149176	45137928	C C	T T	missense_variant missense_variant	MODERATE	NA19089.hp2 NA19089.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0006 a0004c0008t0001g0006	1	452	0.0022	c.589 others(3): Show c.589C>T	p.Arg others(6): Show p.Arg197Trp	ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding	8/10	893/1827	589/918	197/305	chr17	TogoVar
ACBD4_chr17_45130687_45149176	45139105	A A	G G	missense_variant missense_variant	MODERATE	HG01123.hp2 HG01192.hp2 HG02258.hp1 others(26): Show HG01123.hp2 HG01192.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18973.hp1 NA19004.hp2 NA19006.hp1 NA19030.hp1 NA19240.hp1 NA20129.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0051 others(7): Show a0002c0002t0001g0010 a0002c0002t0001g0013 a0002c0002t0001g0051 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0004t0001g0013 a0002c0004t0001g0119	29	452	0.0642	c.734 others(3): Show c.734A>G	p.Gln others(6): Show p.Gln245Arg	ACBD4	ENSG00000181513.15	transcript	ENST00000321854.13	protein_coding	9/10	1038/1827	734/918	245/305	chr17	TogoVar
ACBD5_chr10_27190214_27245797	27204504	A A	T T	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0323 a0006c0011t0001g0323	1	384	0.0026	c.150 others(4): Show c.1501T>A	p.Phe others(6): Show p.Phe501Ile	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	12/13	1610/3903	1501/1578	501/525	chr10	TogoVar
ACBD5_chr10_27190214_27245797	27205236	T T	A A	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0323 a0006c0011t0001g0323	1	384	0.0026	c.141 others(4): Show c.1417A>T	p.Thr others(6): Show p.Thr473Ser	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	11/13	1526/3903	1417/1578	473/525	chr10	TogoVar
ACBD5_chr10_27190214_27245797	27208262	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00621.hp2 others(32): Show HG00140.hp1 HG00323.hp1 HG00621.hp2 HG00735.hp2 HG01109.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG01993.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02630.hp1 HG02896.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp1 HG06807.hp1 NA18906.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18957.hp1 NA19009.hp1 NA19012.hp2 NA19030.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1	a0002 a0002	a0002c0004 a0002c0012 a0002c0004 a0002c0012	a0002c0004t0001 a0002c0004t0005 a0002c0012t0001 a0002c0004t0001 a0002c0004t0005 a0002c0012t0001	a0002c0004t0001g0008 a0002c0004t0001g0172 a0002c0004t0001g0173 others(31): Show a0002c0004t0001g0008 a0002c0004t0001g0172 a0002c0004t0001g0173 a0002c0004t0001g0174 a0002c0004t0001g0175 a0002c0004t0001g0176 a0002c0004t0001g0177 a0002c0004t0001g0178 a0002c0004t0001g0179 a0002c0004t0001g0180 a0002c0004t0001g0181 a0002c0004t0001g0182 a0002c0004t0001g0183 a0002c0004t0001g0184 a0002c0004t0001g0185 a0002c0004t0001g0187 a0002c0004t0001g0189 a0002c0004t0001g0194 a0002c0004t0001g0197 a0002c0004t0001g0199 a0002c0004t0001g0200 a0002c0004t0001g0201 a0002c0004t0001g0203 a0002c0004t0001g0204 a0002c0004t0001g0205 a0002c0004t0001g0206 a0002c0004t0001g0207 a0002c0004t0001g0208 a0002c0004t0001g0209 a0002c0004t0001g0211 a0002c0004t0005g0186 a0002c0004t0005g0188 a0002c0004t0005g0198 a0002c0012t0001g0261	35	384	0.0912	c.138 others(4): Show c.1388C>T	p.Thr others(6): Show p.Thr463Met	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	10/13	1497/3903	1388/1578	463/525	chr10	TogoVar
ACBD5_chr10_27190214_27245797	27211050	G G	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00438.hp1 HG00544.hp1 others(22): Show HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00673.hp1 HG02015.hp2 HG02135.hp1 HG02523.hp2 HG04184.hp2 NA18939.hp1 NA18942.hp2 NA18946.hp1 NA18951.hp2 NA18955.hp2 NA18956.hp1 NA18964.hp1 NA18970.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA19000.hp2 NA19007.hp1 NA19012.hp1 NA19058.hp1 NA19085.hp2	a0003 a0003	a0003c0006 a0003c0013 a0003c0006 a0003c0013	a0003c0006t0004 a0003c0006t0018 a0003c0013t0004 a0003c0006t0004 a0003c0006t0018 a0003c0013t0004	a0003c0006t0004g0001 a0003c0006t0004g0124 a0003c0006t0004g0125 others(19): Show a0003c0006t0004g0001 a0003c0006t0004g0124 a0003c0006t0004g0125 a0003c0006t0004g0126 a0003c0006t0004g0127 a0003c0006t0004g0128 a0003c0006t0004g0129 a0003c0006t0004g0130 a0003c0006t0004g0131 a0003c0006t0004g0132 a0003c0006t0004g0133 a0003c0006t0004g0134 a0003c0006t0004g0135 a0003c0006t0004g0137 a0003c0006t0004g0138 a0003c0006t0004g0139 a0003c0006t0004g0140 a0003c0006t0004g0141 a0003c0006t0004g0142 a0003c0006t0004g0143 a0003c0006t0018g0136 a0003c0013t0004g0160	25	384	0.0651	c.968 others(3): Show c.968C>A	p.Pro others(6): Show p.Pro323Gln	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	9/13	1077/3903	968/1578	323/525	chr10	TogoVar
ACBD5_chr10_27190214_27245797	27219825	C C	T T	missense_variant missense_variant	MODERATE	NA18942.hp1 NA18942.hp1	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0327 a0007c0009t0001g0327	1	384	0.0026	c.523 others(3): Show c.523G>A	p.Ala others(6): Show p.Ala175Thr	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	6/13	632/3903	523/1578	175/525	chr10	TogoVar
ACBD5_chr10_27190214_27245797	27223406	C C	T T	missense_variant missense_variant	MODERATE	NA18950.hp1 NA18967.hp1 NA18950.hp1 NA18967.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0276 a0004c0007t0001g0302 a0004c0007t0001g0276 a0004c0007t0001g0302	2	384	0.0052	c.422 others(3): Show c.422G>A	p.Arg others(6): Show p.Arg141His	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	5/13	531/3903	422/1578	141/525	chr10	TogoVar
ACBD5_chr10_27190214_27245797	27240360	A A	C C	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0161 a0005c0008t0001g0161	1	384	0.0026	c.140 others(3): Show c.140T>G	p.Phe others(5): Show p.Phe47Cys	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	2/13	249/3903	140/1578	47/525	chr10	TogoVar
ACBD7_chr10_15070475_15093776	15078943	A A	C C	missense_variant missense_variant	MODERATE	HG01255.hp1 NA20805.hp2 HG01255.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0042 a0002c0002t0005g0042	2	426	0.0047	c.110 others(3): Show c.110T>G	p.Ile others(5): Show p.Ile37Arg	ACBD7	ENSG00000176244.7	transcript	ENST00000356189.6	protein_coding	2/4	158/3370	110/267	37/88	chr10	TogoVar
ACCSL_chr11_44042981_44064977	44048169	G G	A A	missense_variant missense_variant	MODERATE	HG02080.hp2 NA18945.hp1 NA18946.hp2 others(12): Show HG02080.hp2 NA18945.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18970.hp1 NA18971.hp2 NA18981.hp1 NA18985.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp2 NA19062.hp2 NA19084.hp1 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0009 a0003c0003 a0003c0009	a0003c0003t0001 a0003c0009t0001 a0003c0003t0001 a0003c0009t0001	a0003c0003t0001g0012 a0003c0003t0001g0036 a0003c0003t0001g0054 others(6): Show a0003c0003t0001g0012 a0003c0003t0001g0036 a0003c0003t0001g0054 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0143 a0003c0009t0001g0049	15	446	0.0336	c.133 others(3): Show c.133G>A	p.Val others(5): Show p.Val45Met	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	1/14	189/1820	133/1707	45/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44048254	G G	A A	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0102 a0006c0010t0001g0102	1	446	0.0022	c.218 others(3): Show c.218G>A	p.Arg others(5): Show p.Arg73His	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	1/14	274/1820	218/1707	73/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44048266	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02080.hp1 NA19088.hp1 HG02015.hp2 HG02080.hp1 NA19088.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0002 a0005c0007t0001g0005 a0005c0007t0001g0010 a0005c0007t0001g0002 a0005c0007t0001g0005 a0005c0007t0001g0010	3	446	0.0067	c.230 others(3): Show c.230G>A	p.Arg others(5): Show p.Arg77Gln	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	1/14	286/1820	230/1707	77/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44053500	C C	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0008 a0010c0011t0001g0008	1	446	0.0022	c.104 others(4): Show c.1043C>A	p.Ala others(6): Show p.Ala348Asp	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	8/14	1099/1820	1043/1707	348/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44055258	C C	A A	missense_variant missense_variant	MODERATE	NA18747.hp1 NA18747.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0001 a0009c0012t0001	a0009c0012t0001g0008 a0009c0012t0001g0008	1	446	0.0022	c.110 others(4): Show c.1106C>A	p.Ser others(6): Show p.Ser369Tyr	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	9/14	1162/1820	1106/1707	369/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44056255	G G	C C	missense_variant missense_variant	MODERATE	NA18989.hp1 NA18989.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0002 a0008c0013t0001g0002	1	446	0.0022	c.125 others(4): Show c.1256G>C	p.Ser others(6): Show p.Ser419Thr	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	11/14	1312/1820	1256/1707	419/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44058546	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19078.hp1 NA19078.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0062 a0007c0014t0001g0062	1	446	0.0022	c.147 others(4): Show c.1471T>G	p.Tyr others(6): Show p.Tyr491Asp	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	13/14	1527/1820	1471/1707	491/568	chr11	TogoVar
ACCSL_chr11_44042981_44064977	44058660	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.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 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 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 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0001c0005 others(9): Show a0001c0001 a0001c0004 a0001c0005 a0001c0008 a0003c0003 a0003c0009 a0004c0006 a0005c0007 a0007c0014 a0008c0013 a0009c0012 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001 a0001c0008t0001 a0003c0003t0001 a0003c0009t0001 a0004c0006t0001 a0005c0007t0001 a0007c0014t0001 a0008c0013t0001 a0009c0012t0001 a0010c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(134): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0002g0010 a0001c0004t0001g0014 a0001c0004t0001g0016 a0001c0004t0001g0089 a0001c0005t0001g0043 a0001c0005t0001g0114 a0001c0005t0001g0135 a0001c0005t0001g0144 a0001c0008t0001g0091 a0001c0008t0001g0121 a0003c0003t0001g0012 a0003c0003t0001g0036 a0003c0003t0001g0054 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0143 a0003c0009t0001g0049 a0004c0006t0001g0002 a0004c0006t0001g0030 a0004c0006t0001g0080 a0004c0006t0001g0152 a0005c0007t0001g0002 a0005c0007t0001g0005 a0005c0007t0001g0010 a0007c0014t0001g0062 a0008c0013t0001g0002 a0009c0012t0001g0008 a0010c0011t0001g0008	344	446	0.7713	c.158 others(4): Show c.1585T>C	p.Cys others(6): Show p.Cys529Arg	ACCSL	ENSG00000205126.2	transcript	ENST00000378832.1	protein_coding	13/14	1641/1820	1585/1707	529/568	chr11	TogoVar
ACCS_chr11_44061270_44089237	44067802	G G	A A	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00438.hp2 HG00597.hp1 others(116): Show HG00140.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18984.hp2 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0003 a0004 a0005 others(3): Show a0003 a0004 a0005 a0007 a0009 a0014	a0003c0002 a0003c0008 a0004c0005 others(4): Show a0003c0002 a0003c0008 a0004c0005 a0005c0006 a0007c0009 a0009c0010 a0014c0012	a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 others(11): Show a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0011 a0003c0008t0001 a0003c0008t0002 a0004c0005t0001 a0004c0005t0002 a0004c0005t0003 a0005c0006t0001 a0007c0009t0001 a0009c0010t0001 a0014c0012t0001	a0003c0002t0001g0008 a0003c0002t0001g0032 a0003c0002t0001g0035 others(86): Show a0003c0002t0001g0008 a0003c0002t0001g0032 a0003c0002t0001g0035 a0003c0002t0001g0051 a0003c0002t0001g0053 a0003c0002t0001g0071 a0003c0002t0001g0092 a0003c0002t0001g0098 a0003c0002t0001g0103 a0003c0002t0001g0198 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0211 a0003c0002t0001g0218 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0002g0003 a0003c0002t0002g0008 a0003c0002t0002g0012 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0053 a0003c0002t0002g0054 a0003c0002t0002g0194 a0003c0002t0002g0212 a0003c0002t0002g0213 a0003c0002t0002g0214 a0003c0002t0002g0215 a0003c0002t0002g0216 a0003c0002t0002g0217 a0003c0002t0002g0222 a0003c0002t0002g0223 a0003c0002t0002g0224 a0003c0002t0002g0225 a0003c0002t0002g0228 a0003c0002t0002g0229 a0003c0002t0002g0230 a0003c0002t0002g0231 a0003c0002t0002g0234 a0003c0002t0002g0277 a0003c0002t0003g0280 a0003c0002t0003g0281 a0003c0002t0003g0293 a0003c0002t0007g0094 a0003c0002t0007g0095 a0003c0002t0011g0227 a0003c0008t0001g0055 a0003c0008t0002g0210 a0004c0005t0001g0028 a0004c0005t0001g0050 a0004c0005t0001g0052 a0004c0005t0001g0068 a0004c0005t0001g0093 a0004c0005t0001g0096 a0004c0005t0001g0097 a0004c0005t0001g0099 a0004c0005t0001g0100 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0195 a0004c0005t0001g0196 a0004c0005t0001g0197 a0004c0005t0001g0203 a0004c0005t0001g0204 a0004c0005t0001g0209 a0004c0005t0001g0219 a0004c0005t0001g0270 a0004c0005t0001g0275 a0004c0005t0002g0220 a0004c0005t0002g0221 a0004c0005t0002g0233 a0004c0005t0002g0235 a0004c0005t0003g0282 a0004c0005t0003g0283 a0005c0006t0001g0090 a0005c0006t0001g0091 a0005c0006t0001g0199 a0005c0006t0001g0200 a0005c0006t0001g0201 a0005c0006t0001g0202 a0005c0006t0001g0205 a0005c0006t0001g0206 a0007c0009t0001g0271 a0007c0009t0001g0272 a0007c0009t0001g0273 a0009c0010t0001g0064 a0014c0012t0001g0232	119	438	0.2717	c.175 others(3): Show c.175G>A	p.Asp others(5): Show p.Asp59Asn	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	2/15	607/2383	175/1506	59/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44073500	C C	G G	missense_variant missense_variant	MODERATE	HG02622.hp2 HG02630.hp2 HG02895.hp2 others(2): Show HG02622.hp2 HG02630.hp2 HG02895.hp2 HG02897.hp1 HG03540.hp1	a0007 a0009 a0007 a0009	a0007c0009 a0009c0010 a0007c0009 a0009c0010	a0007c0009t0001 a0009c0010t0001 a0007c0009t0001 a0009c0010t0001	a0007c0009t0001g0271 a0007c0009t0001g0272 a0007c0009t0001g0273 others(1): Show a0007c0009t0001g0271 a0007c0009t0001g0272 a0007c0009t0001g0273 a0009c0010t0001g0064	5	438	0.0114	c.402 others(3): Show c.402C>G	p.Asp others(6): Show p.Asp134Glu	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	4/15	834/2383	402/1506	134/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074637	C C	G G	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0232 a0014c0012t0001g0232	1	438	0.0023	c.445 others(3): Show c.445C>G	p.Leu others(6): Show p.Leu149Val	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/15	877/2383	445/1506	149/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44077852	G G	A A	missense_variant missense_variant	MODERATE	HG02615.hp2 HG02723.hp2 HG03195.hp1 others(5): Show HG02615.hp2 HG02723.hp2 HG03195.hp1 HG03516.hp1 NA18906.hp2 NA18986.hp2 NA19030.hp2 NA19091.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0090 a0005c0006t0001g0091 a0005c0006t0001g0199 others(5): Show a0005c0006t0001g0090 a0005c0006t0001g0091 a0005c0006t0001g0199 a0005c0006t0001g0200 a0005c0006t0001g0201 a0005c0006t0001g0202 a0005c0006t0001g0205 a0005c0006t0001g0206	8	438	0.0183	c.662 others(3): Show c.662G>A	p.Gly others(6): Show p.Gly221Glu	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	8/15	1094/2383	662/1506	221/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44079599	G G	A A	missense_variant missense_variant	MODERATE	NA18999.hp2 NA19077.hp2 NA18999.hp2 NA19077.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0022 a0008c0011t0001g0022	2	438	0.0046	c.902 others(3): Show c.902G>A	p.Arg others(6): Show p.Arg301His	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	10/15	1334/2383	902/1506	301/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44081201	G G	A A	missense_variant missense_variant	MODERATE	HG02965.hp1 HG02965.hp1	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0001 a0010c0016t0001	a0010c0016t0001g0161 a0010c0016t0001g0161	1	438	0.0023	c.992 others(3): Show c.992G>A	p.Arg others(6): Show p.Arg331His	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	12/15	1424/2383	992/1506	331/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44081213	T T	C C	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0119 a0013c0013t0001g0119	1	438	0.0023	c.100 others(4): Show c.1004T>C	p.Leu others(6): Show p.Leu335Pro	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	12/15	1436/2383	1004/1506	335/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44083431	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(191): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0006 others(3): Show a0002 a0003 a0006 a0009 a0010 a0014	a0002c0003 a0002c0004 a0002c0018 others(6): Show a0002c0003 a0002c0004 a0002c0018 a0003c0002 a0003c0008 a0006c0007 a0009c0010 a0010c0016 a0014c0012	a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 others(16): Show a0002c0003t0001 a0002c0003t0002 a0002c0003t0008 a0002c0004t0001 a0002c0004t0002 a0002c0004t0007 a0002c0004t0010 a0002c0018t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0011 a0003c0008t0001 a0003c0008t0002 a0006c0007t0001 a0009c0010t0001 a0010c0016t0001 a0014c0012t0001	a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0011 others(137): Show a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0011 a0002c0003t0001g0020 a0002c0003t0001g0024 a0002c0003t0001g0025 a0002c0003t0001g0026 a0002c0003t0001g0039 a0002c0003t0001g0045 a0002c0003t0001g0061 a0002c0003t0001g0067 a0002c0003t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0125 a0002c0003t0001g0126 a0002c0003t0001g0127 a0002c0003t0001g0135 a0002c0003t0001g0139 a0002c0003t0001g0149 a0002c0003t0001g0150 a0002c0003t0001g0162 a0002c0003t0001g0164 a0002c0003t0001g0170 a0002c0003t0001g0172 a0002c0003t0001g0180 a0002c0003t0001g0182 a0002c0003t0001g0184 a0002c0003t0001g0187 a0002c0003t0001g0226 a0002c0003t0001g0257 a0002c0003t0001g0261 a0002c0003t0001g0264 a0002c0003t0001g0278 a0002c0003t0002g0007 a0002c0003t0002g0011 a0002c0003t0008g0007 a0002c0003t0008g0181 a0002c0004t0001g0027 a0002c0004t0001g0033 a0002c0004t0001g0034 a0002c0004t0001g0047 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0057 a0002c0004t0001g0065 a0002c0004t0001g0066 a0002c0004t0001g0072 a0002c0004t0001g0075 a0002c0004t0001g0076 a0002c0004t0001g0077 a0002c0004t0001g0078 a0002c0004t0001g0080 a0002c0004t0001g0081 a0002c0004t0001g0082 a0002c0004t0001g0083 a0002c0004t0001g0089 a0002c0004t0001g0104 a0002c0004t0001g0106 a0002c0004t0001g0142 a0002c0004t0001g0143 a0002c0004t0001g0152 a0002c0004t0001g0157 a0002c0004t0001g0158 a0002c0004t0001g0175 a0002c0004t0001g0186 a0002c0004t0001g0189 a0002c0004t0001g0190 a0002c0004t0001g0192 a0002c0004t0001g0237 a0002c0004t0001g0244 a0002c0004t0001g0251 a0002c0004t0001g0252 a0002c0004t0001g0266 a0002c0004t0001g0274 a0002c0004t0002g0183 a0002c0004t0007g0136 a0002c0004t0010g0079 a0002c0018t0001g0179 a0003c0002t0001g0008 a0003c0002t0001g0032 a0003c0002t0001g0035 a0003c0002t0001g0051 a0003c0002t0001g0053 a0003c0002t0001g0071 a0003c0002t0001g0092 a0003c0002t0001g0098 a0003c0002t0001g0103 a0003c0002t0001g0198 a0003c0002t0001g0207 a0003c0002t0001g0208 a0003c0002t0001g0211 a0003c0002t0001g0218 a0003c0002t0001g0268 a0003c0002t0001g0269 a0003c0002t0002g0003 a0003c0002t0002g0008 a0003c0002t0002g0012 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0053 a0003c0002t0002g0054 a0003c0002t0002g0194 a0003c0002t0002g0212 a0003c0002t0002g0213 a0003c0002t0002g0214 a0003c0002t0002g0215 a0003c0002t0002g0216 a0003c0002t0002g0217 a0003c0002t0002g0222 a0003c0002t0002g0223 a0003c0002t0002g0224 a0003c0002t0002g0225 a0003c0002t0002g0228 a0003c0002t0002g0229 a0003c0002t0002g0230 a0003c0002t0002g0231 a0003c0002t0002g0234 a0003c0002t0002g0277 a0003c0002t0003g0280 a0003c0002t0003g0281 a0003c0002t0003g0293 a0003c0002t0007g0094 a0003c0002t0007g0095 a0003c0002t0011g0227 a0003c0008t0001g0055 a0003c0008t0002g0210 a0006c0007t0001g0085 a0006c0007t0001g0086 a0006c0007t0001g0088 a0006c0007t0001g0109 a0009c0010t0001g0064 a0010c0016t0001g0161 a0014c0012t0001g0232	194	438	0.4429	c.126 others(4): Show c.1262C>T	p.Pro others(6): Show p.Pro421Leu	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	14/15	1694/2383	1262/1506	421/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44083467	G G	A A	missense_variant missense_variant	MODERATE	HG02132.hp1 HG02132.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0121 a0011c0014t0001g0121	1	438	0.0023	c.129 others(4): Show c.1298G>A	p.Arg others(6): Show p.Arg433His	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	14/15	1730/2383	1298/1506	433/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44083734	A A	T T	missense_variant missense_variant	MODERATE	NA18995.hp2 NA18995.hp2	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0001 a0012c0015t0001	a0012c0015t0001g0151 a0012c0015t0001g0151	1	438	0.0023	c.144 others(4): Show c.1448A>T	p.Gln others(6): Show p.Gln483Leu	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	15/15	1880/2383	1448/1506	483/501	chr11	TogoVar
ACCS_chr11_44061270_44089237	44083751	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02809.hp2 HG02818.hp1 others(1): Show HG02145.hp2 HG02809.hp2 HG02818.hp1 HG03041.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0085 a0006c0007t0001g0086 a0006c0007t0001g0088 others(1): Show a0006c0007t0001g0085 a0006c0007t0001g0086 a0006c0007t0001g0088 a0006c0007t0001g0109	4	438	0.0091	c.146 others(4): Show c.1465C>T	p.Arg others(6): Show p.Arg489Cys	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	15/15	1897/2383	1465/1506	489/501	chr11	TogoVar
ACD_chr16_67652512_67665260	67657765	A A	G G	missense_variant missense_variant	MODERATE	HG00438.hp1 HG00438.hp2 HG00609.hp2 others(156): Show HG00438.hp1 HG00438.hp2 HG00609.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02735.hp1 HG02735.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 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 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 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18950.hp1 NA18959.hp1 NA18977.hp2 NA18995.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0003c0004 a0004c0005 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001 a0001c0009t0001 a0001c0010t0001 a0003c0004t0001 a0004c0005t0001 a0005c0012t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(18): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0002g0004 a0001c0003t0001g0007 a0001c0003t0001g0020 a0001c0007t0001g0017 a0001c0008t0001g0019 a0001c0009t0001g0018 a0001c0010t0001g0024 a0003c0004t0001g0008 a0003c0004t0001g0023 a0004c0005t0001g0014 a0005c0012t0001g0022	159	268	0.5933	c.129 others(4): Show c.1295T>C	p.Val others(6): Show p.Val432Ala	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	11/12	1335/1511	1295/1377	432/458	chr16	TogoVar
ACD_chr16_67652512_67665260	67658248	G G	T T	missense_variant missense_variant	MODERATE	HG00609.hp1 HG00609.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0016 a0006c0006t0001g0016	1	268	0.0037	c.944 others(3): Show c.944C>A	p.Pro others(6): Show p.Pro315His	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	10/12	984/1511	944/1377	315/458	chr16	TogoVar
ACD_chr16_67652512_67665260	67658269	C C	T T	missense_variant missense_variant	MODERATE	HG01884.hp1 HG02257.hp2 HG03139.hp1 HG01884.hp1 HG02257.hp2 HG03139.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0008 a0003c0004t0001g0023 a0003c0004t0001g0008 a0003c0004t0001g0023	3	268	0.0112	c.923 others(3): Show c.923G>A	p.Gly others(6): Show p.Gly308Glu	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	10/12	963/1511	923/1377	308/458	chr16	TogoVar
ACD_chr16_67652512_67665260	67658960	T T	C C	missense_variant missense_variant	MODERATE	HG01993.hp2 HG01993.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0022 a0005c0012t0001g0022	1	268	0.0037	c.613 others(3): Show c.613A>G	p.Thr others(6): Show p.Thr205Ala	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	7/12	653/1511	613/1377	205/458	chr16	TogoVar
ACD_chr16_67652512_67665260	67659046	C C	T T	missense_variant missense_variant	MODERATE	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0014 a0004c0005t0001g0014	1	268	0.0037	c.527 others(3): Show c.527G>A	p.Arg others(6): Show p.Arg176Gln	ACD	ENSG00000102977.18	transcript	ENST00000620761.6	protein_coding	7/12	567/1511	527/1377	176/458	chr16	TogoVar
ACE2_chrX_15556033_15605960	15564142	G G	A A	missense_variant missense_variant	MODERATE	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0088 a0002c0004t0001g0088	1	264	0.0038	c.219 others(4): Show c.2191C>T	p.Leu others(6): Show p.Leu731Phe	ACE2	ENSG00000130234.13	transcript	ENST00000252519.8	protein_coding	17/18	2240/3339	2191/2418	731/805	chrX	TogoVar
ACER1_chr19_6301142_6338612	6306748	T T	C C	missense_variant missense_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0198 a0005c0009t0001g0198	1	396	0.0025	c.761 others(3): Show c.761A>G	p.Tyr others(6): Show p.Tyr254Cys	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	6/6	822/1428	761/795	254/264	chr19	TogoVar
ACER1_chr19_6301142_6338612	6306846	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0026 a0004c0007t0001g0026	1	396	0.0025	c.663 others(3): Show c.663G>A	p.Met others(6): Show p.Met221Ile	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	6/6	724/1428	663/795	221/264	chr19	TogoVar

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