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
AKNAD1_chr1_108810901_108862094	108852354	G G	A A	missense_variant missense_variant	MODERATE	HG00738.hp2 HG00738.hp2	a0030 a0030	a0030c0064 a0030c0064	a0030c0064t0001 a0030c0064t0001	a0030c0064t0001g0299 a0030c0064t0001g0299	1	398	0.0025	c.311 others(3): Show c.311C>T	p.Ala others(6): Show p.Ala104Val	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	580/3050	311/2511	104/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108852483	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(361): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.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 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 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 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 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(23): Show a0001 a0002 a0003 a0004 a0005 a0008 a0009 a0010 a0011 a0012 a0013 a0015 a0016 a0017 a0018 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030	a0001c0001 a0001c0003 a0001c0007 others(55): Show a0001c0001 a0001c0003 a0001c0007 a0001c0011 a0001c0031 a0001c0040 a0001c0046 a0001c0050 a0001c0054 a0002c0002 a0002c0005 a0002c0015 a0002c0024 a0002c0029 a0002c0030 a0002c0044 a0002c0055 a0003c0009 a0003c0012 a0003c0013 a0003c0016 a0003c0056 a0003c0057 a0004c0006 a0004c0008 a0004c0043 a0004c0065 a0005c0004 a0005c0022 a0005c0033 a0008c0010 a0009c0020 a0009c0036 a0010c0023 a0010c0048 a0010c0049 a0011c0026 a0011c0035 a0012c0018 a0013c0019 a0015c0034 a0015c0051 a0016c0025 a0017c0032 a0017c0060 a0018c0061 a0018c0062 a0020c0053 a0021c0067 a0022c0042 a0023c0045 a0024c0047 a0025c0066 a0026c0052 a0027c0058 a0028c0059 a0029c0063 a0030c0064	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(80): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0007t0001 a0001c0011t0001 a0001c0011t0002 a0001c0011t0003 a0001c0031t0001 a0001c0031t0006 a0001c0040t0002 a0001c0046t0003 a0001c0050t0001 a0001c0054t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0012 a0002c0015t0001 a0002c0015t0002 a0002c0024t0006 a0002c0029t0003 a0002c0029t0004 a0002c0030t0006 a0002c0030t0013 a0002c0044t0002 a0002c0055t0006 a0003c0009t0001 a0003c0012t0003 a0003c0012t0004 a0003c0013t0001 a0003c0016t0001 a0003c0016t0003 a0003c0056t0010 a0003c0057t0006 a0004c0006t0001 a0004c0008t0001 a0004c0008t0002 a0004c0043t0002 a0004c0065t0001 a0005c0004t0001 a0005c0004t0002 a0005c0004t0003 a0005c0004t0004 a0005c0022t0001 a0005c0033t0002 a0008c0010t0001 a0008c0010t0002 a0008c0010t0004 a0009c0020t0002 a0009c0020t0004 a0009c0036t0003 a0010c0023t0001 a0010c0048t0001 a0010c0049t0002 a0011c0026t0003 a0011c0026t0004 a0011c0035t0003 a0012c0018t0005 a0012c0018t0008 a0013c0019t0002 a0015c0034t0007 a0015c0051t0001 a0016c0025t0004 a0017c0032t0003 a0017c0032t0004 a0017c0060t0003 a0018c0061t0004 a0018c0062t0003 a0020c0053t0001 a0021c0067t0001 a0022c0042t0003 a0023c0045t0002 a0024c0047t0001 a0025c0066t0002 a0026c0052t0001 a0027c0058t0004 a0028c0059t0004 a0029c0063t0009 a0030c0064t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(318): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0106 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0002g0334 a0001c0001t0003g0004 a0001c0003t0001g0136 a0001c0003t0001g0141 a0001c0003t0001g0184 a0001c0003t0001g0186 a0001c0003t0001g0192 a0001c0003t0001g0212 a0001c0003t0001g0333 a0001c0003t0002g0005 a0001c0003t0002g0019 a0001c0003t0002g0107 a0001c0003t0002g0118 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0137 a0001c0003t0002g0145 a0001c0003t0002g0149 a0001c0003t0002g0151 a0001c0003t0002g0172 a0001c0003t0002g0197 a0001c0003t0002g0204 a0001c0003t0002g0213 a0001c0003t0002g0243 a0001c0003t0002g0244 a0001c0007t0001g0008 a0001c0007t0001g0030 a0001c0007t0001g0300 a0001c0007t0001g0308 a0001c0007t0001g0313 a0001c0007t0001g0314 a0001c0007t0001g0315 a0001c0007t0001g0318 a0001c0007t0001g0319 a0001c0007t0001g0320 a0001c0007t0001g0321 a0001c0007t0001g0348 a0001c0007t0001g0349 a0001c0011t0001g0307 a0001c0011t0002g0003 a0001c0011t0002g0301 a0001c0011t0002g0311 a0001c0011t0002g0312 a0001c0011t0002g0322 a0001c0011t0003g0066 a0001c0031t0001g0298 a0001c0031t0006g0050 a0001c0040t0002g0325 a0001c0046t0003g0055 a0001c0050t0001g0189 a0001c0054t0001g0297 a0002c0002t0001g0020 a0002c0002t0001g0111 a0002c0002t0001g0119 a0002c0002t0001g0124 a0002c0002t0001g0142 a0002c0002t0001g0165 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0211 a0002c0002t0001g0215 a0002c0002t0001g0216 a0002c0002t0001g0223 a0002c0002t0001g0225 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0264 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0326 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0002g0001 a0002c0002t0002g0112 a0002c0002t0002g0116 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0218 a0002c0002t0002g0266 a0002c0002t0003g0053 a0002c0002t0003g0086 a0002c0005t0001g0022 a0002c0005t0001g0122 a0002c0005t0001g0123 a0002c0005t0001g0133 a0002c0005t0001g0194 a0002c0005t0001g0203 a0002c0005t0001g0219 a0002c0005t0001g0253 a0002c0005t0001g0263 a0002c0005t0001g0274 a0002c0005t0001g0284 a0002c0005t0001g0332 a0002c0005t0001g0344 a0002c0005t0001g0345 a0002c0005t0003g0077 a0002c0005t0003g0088 a0002c0005t0012g0104 a0002c0015t0001g0317 a0002c0015t0002g0031 a0002c0015t0002g0309 a0002c0015t0002g0310 a0002c0015t0002g0316 a0002c0024t0006g0051 a0002c0024t0006g0052 a0002c0024t0006g0054 a0002c0029t0003g0101 a0002c0029t0004g0102 a0002c0030t0006g0078 a0002c0030t0013g0105 a0002c0044t0002g0200 a0002c0055t0006g0056 a0003c0009t0001g0156 a0003c0009t0001g0169 a0003c0009t0001g0201 a0003c0009t0001g0208 a0003c0009t0001g0259 a0003c0009t0001g0261 a0003c0009t0001g0276 a0003c0009t0001g0283 a0003c0009t0001g0291 a0003c0009t0001g0292 a0003c0009t0001g0293 a0003c0009t0001g0294 a0003c0012t0003g0011 a0003c0012t0003g0012 a0003c0012t0003g0065 a0003c0012t0003g0067 a0003c0012t0003g0068 a0003c0012t0003g0072 a0003c0012t0004g0064 a0003c0012t0004g0069 a0003c0013t0001g0027 a0003c0013t0001g0152 a0003c0013t0001g0195 a0003c0013t0001g0232 a0003c0013t0001g0233 a0003c0013t0001g0278 a0003c0013t0001g0280 a0003c0016t0001g0302 a0003c0016t0001g0303 a0003c0016t0001g0304 a0003c0016t0001g0306 a0003c0016t0003g0070 a0003c0016t0003g0071 a0003c0056t0010g0049 a0003c0057t0006g0048 a0004c0006t0001g0018 a0004c0006t0001g0026 a0004c0006t0001g0028 a0004c0006t0001g0159 a0004c0006t0001g0161 a0004c0006t0001g0163 a0004c0006t0001g0164 a0004c0006t0001g0167 a0004c0006t0001g0260 a0004c0006t0001g0267 a0004c0006t0001g0268 a0004c0006t0001g0269 a0004c0006t0001g0275 a0004c0006t0001g0337 a0004c0008t0001g0007 a0004c0008t0001g0025 a0004c0008t0001g0125 a0004c0008t0001g0240 a0004c0008t0001g0241 a0004c0008t0001g0242 a0004c0008t0001g0257 a0004c0008t0001g0270 a0004c0008t0002g0130 a0004c0043t0002g0206 a0004c0065t0001g0347 a0005c0004t0001g0179 a0005c0004t0002g0023 a0005c0004t0002g0129 a0005c0004t0002g0132 a0005c0004t0002g0143 a0005c0004t0002g0147 a0005c0004t0002g0153 a0005c0004t0002g0174 a0005c0004t0002g0180 a0005c0004t0002g0220 a0005c0004t0002g0224 a0005c0004t0002g0230 a0005c0004t0002g0231 a0005c0004t0002g0238 a0005c0004t0002g0239 a0005c0004t0002g0343 a0005c0004t0003g0087 a0005c0004t0004g0096 a0005c0022t0001g0144 a0005c0022t0001g0205 a0005c0022t0001g0221 a0005c0033t0002g0029 a0008c0010t0001g0117 a0008c0010t0001g0245 a0008c0010t0002g0015 a0008c0010t0002g0135 a0008c0010t0002g0146 a0008c0010t0002g0198 a0008c0010t0002g0277 a0008c0010t0002g0341 a0008c0010t0004g0073 a0009c0020t0002g0113 a0009c0020t0004g0047 a0009c0020t0004g0075 a0009c0020t0004g0076 a0009c0036t0003g0013 a0010c0023t0001g0157 a0010c0023t0001g0342 a0010c0023t0001g0346 a0010c0048t0001g0158 a0010c0049t0002g0281 a0011c0026t0003g0084 a0011c0026t0004g0083 a0011c0026t0004g0089 a0011c0035t0003g0081 a0011c0035t0003g0082 a0012c0018t0005g0038 a0012c0018t0005g0039 a0012c0018t0005g0040 a0012c0018t0005g0041 a0012c0018t0008g0033 a0013c0019t0002g0168 a0013c0019t0002g0170 a0013c0019t0002g0171 a0013c0019t0002g0190 a0015c0034t0007g0043 a0015c0034t0007g0044 a0015c0051t0001g0286 a0016c0025t0004g0079 a0016c0025t0004g0080 a0016c0025t0004g0085 a0017c0032t0003g0059 a0017c0032t0004g0057 a0017c0060t0003g0058 a0018c0061t0004g0061 a0018c0062t0003g0063 a0020c0053t0001g0296 a0021c0067t0001g0350 a0022c0042t0003g0074 a0023c0045t0002g0287 a0024c0047t0001g0279 a0025c0066t0002g0305 a0026c0052t0001g0295 a0027c0058t0004g0062 a0028c0059t0004g0060 a0029c0063t0009g0042 a0030c0064t0001g0299	364	398	0.9146	c.182 others(3): Show c.182G>A	p.Ser others(5): Show p.Ser61Asn	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	451/3050	182/2511	61/836	chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108852546	C C	T T	missense_variant missense_variant	MODERATE	HG01175.hp2 HG01175.hp2	a0019 a0019	a0019c0041 a0019c0041	a0019c0041t0003 a0019c0041t0003	a0019c0041t0003g0090 a0019c0041t0003g0090	1	398	0.0025	c.119 others(3): Show c.119G>A	p.Gly others(5): Show p.Gly40Asp	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	2/16	388/3050	119/2511	40/836	chr1	TogoVar
AKNA_chr9_114329156_114392982	114341558	T T	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG01981.hp1 HG02055.hp2 others(18): Show HG01243.hp2 HG01981.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0008 a0009 a0012 others(1): Show a0008 a0009 a0012 a0017	a0008c0007 a0009c0013 a0009c0047 others(3): Show a0008c0007 a0009c0013 a0009c0047 a0012c0018 a0012c0032 a0017c0021	a0008c0007t0006 a0008c0007t0037 a0009c0013t0001 others(8): Show a0008c0007t0006 a0008c0007t0037 a0009c0013t0001 a0009c0013t0013 a0009c0047t0029 a0012c0018t0006 a0012c0018t0060 a0012c0018t0067 a0012c0032t0064 a0017c0021t0036 a0017c0021t0038	a0008c0007t0006g0348 a0008c0007t0006g0349 a0008c0007t0006g0351 others(18): Show a0008c0007t0006g0348 a0008c0007t0006g0349 a0008c0007t0006g0351 a0008c0007t0006g0352 a0008c0007t0006g0353 a0008c0007t0006g0354 a0008c0007t0006g0356 a0008c0007t0037g0355 a0009c0013t0001g0319 a0009c0013t0001g0320 a0009c0013t0013g0211 a0009c0013t0013g0247 a0009c0013t0013g0249 a0009c0013t0013g0250 a0009c0047t0029g0248 a0012c0018t0006g0252 a0012c0018t0060g0240 a0012c0018t0067g0105 a0012c0032t0064g0133 a0017c0021t0036g0347 a0017c0021t0038g0345	21	388	0.0541	c.404 others(4): Show c.4042A>G	p.Ile others(7): Show p.Ile1348Val	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	21/22	4278/7454	4042/4320	1348/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114341620	T T	C C	missense_variant missense_variant	MODERATE	HG01192.hp2 HG01243.hp1 HG01496.hp2 others(17): Show HG01192.hp2 HG01243.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03540.hp2 HG06807.hp1 NA19030.hp2 NA19043.hp2	a0005 a0026 a0005 a0026	a0005c0005 a0005c0014 a0026c0039 a0005c0005 a0005c0014 a0026c0039	a0005c0005t0008 a0005c0005t0023 a0005c0005t0024 others(4): Show a0005c0005t0008 a0005c0005t0023 a0005c0005t0024 a0005c0005t0030 a0005c0014t0008 a0005c0014t0020 a0026c0039t0008	a0005c0005t0008g0024 a0005c0005t0008g0340 a0005c0005t0008g0341 others(15): Show a0005c0005t0008g0024 a0005c0005t0008g0340 a0005c0005t0008g0341 a0005c0005t0008g0342 a0005c0005t0008g0344 a0005c0005t0023g0101 a0005c0005t0023g0102 a0005c0005t0023g0103 a0005c0005t0024g0106 a0005c0005t0024g0107 a0005c0005t0024g0182 a0005c0005t0030g0104 a0005c0005t0030g0108 a0005c0014t0008g0274 a0005c0014t0020g0020 a0005c0014t0020g0272 a0005c0014t0020g0273 a0026c0039t0008g0346	20	388	0.0516	c.398 others(4): Show c.3980A>G	p.Tyr others(7): Show p.Tyr1327Cys	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	21/22	4216/7454	3980/4320	1327/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114341693	A A	G G	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(245): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0004 others(18): Show a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0020 a0023 a0024 a0025 a0026	a0002c0002 a0002c0022 a0002c0025 others(34): Show a0002c0002 a0002c0022 a0002c0025 a0002c0028 a0002c0030 a0002c0031 a0002c0043 a0002c0046 a0003c0006 a0003c0011 a0003c0012 a0003c0029 a0003c0044 a0004c0003 a0005c0005 a0005c0014 a0007c0009 a0007c0042 a0008c0007 a0009c0013 a0009c0047 a0010c0008 a0011c0010 a0011c0027 a0012c0018 a0012c0032 a0013c0015 a0014c0017 a0015c0019 a0016c0016 a0017c0021 a0018c0023 a0020c0036 a0023c0041 a0024c0026 a0025c0038 a0026c0039	a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 others(78): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0019 a0002c0002t0027 a0002c0002t0028 a0002c0002t0046 a0002c0002t0047 a0002c0002t0050 a0002c0002t0059 a0002c0002t0065 a0002c0002t0066 a0002c0022t0001 a0002c0025t0001 a0002c0028t0029 a0002c0030t0001 a0002c0031t0001 a0002c0043t0001 a0002c0046t0001 a0003c0006t0001 a0003c0006t0010 a0003c0006t0015 a0003c0006t0016 a0003c0006t0018 a0003c0006t0044 a0003c0006t0045 a0003c0011t0010 a0003c0011t0018 a0003c0012t0009 a0003c0029t0033 a0003c0044t0042 a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0012 a0004c0003t0022 a0004c0003t0055 a0004c0003t0056 a0004c0003t0057 a0005c0005t0008 a0005c0005t0023 a0005c0005t0024 a0005c0005t0030 a0005c0014t0008 a0005c0014t0020 a0007c0009t0001 a0007c0009t0019 a0007c0009t0027 a0007c0042t0001 a0008c0007t0006 a0008c0007t0037 a0009c0013t0001 a0009c0013t0013 a0009c0047t0029 a0010c0008t0004 a0011c0010t0014 a0011c0010t0031 a0011c0010t0032 a0011c0010t0068 a0011c0027t0014 a0012c0018t0006 a0012c0018t0060 a0012c0018t0067 a0012c0032t0064 a0013c0015t0001 a0013c0015t0062 a0014c0017t0025 a0014c0017t0041 a0015c0019t0006 a0016c0016t0015 a0017c0021t0036 a0017c0021t0038 a0018c0023t0048 a0020c0036t0001 a0023c0041t0063 a0024c0026t0001 a0025c0038t0001 a0026c0039t0008	a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(224): Show a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0027 a0002c0002t0001g0029 a0002c0002t0001g0035 a0002c0002t0001g0050 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0063 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0093 a0002c0002t0001g0099 a0002c0002t0001g0129 a0002c0002t0001g0183 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0199 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0258 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0281 a0002c0002t0001g0283 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0288 a0002c0002t0001g0291 a0002c0002t0001g0293 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0299 a0002c0002t0001g0302 a0002c0002t0001g0304 a0002c0002t0001g0306 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0002t0001g0316 a0002c0002t0001g0326 a0002c0002t0001g0327 a0002c0002t0001g0329 a0002c0002t0001g0332 a0002c0002t0001g0333 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0350 a0002c0002t0001g0357 a0002c0002t0003g0318 a0002c0002t0004g0200 a0002c0002t0004g0331 a0002c0002t0004g0334 a0002c0002t0005g0021 a0002c0002t0005g0100 a0002c0002t0005g0289 a0002c0002t0005g0290 a0002c0002t0005g0321 a0002c0002t0007g0261 a0002c0002t0019g0213 a0002c0002t0019g0214 a0002c0002t0019g0215 a0002c0002t0027g0323 a0002c0002t0028g0311 a0002c0002t0028g0317 a0002c0002t0046g0305 a0002c0002t0047g0254 a0002c0002t0050g0262 a0002c0002t0059g0312 a0002c0002t0065g0202 a0002c0002t0066g0197 a0002c0022t0001g0292 a0002c0025t0001g0282 a0002c0028t0029g0026 a0002c0030t0001g0322 a0002c0031t0001g0223 a0002c0043t0001g0187 a0002c0046t0001g0309 a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 a0003c0006t0015g0086 a0003c0006t0016g0220 a0003c0006t0016g0224 a0003c0006t0016g0225 a0003c0006t0016g0229 a0003c0006t0018g0226 a0003c0006t0018g0227 a0003c0006t0044g0228 a0003c0006t0045g0230 a0003c0011t0010g0300 a0003c0011t0010g0301 a0003c0011t0010g0310 a0003c0011t0010g0324 a0003c0011t0018g0193 a0003c0011t0018g0198 a0003c0012t0009g0016 a0003c0012t0009g0190 a0003c0012t0009g0191 a0003c0012t0009g0192 a0003c0012t0009g0276 a0003c0029t0033g0343 a0003c0044t0042g0189 a0004c0003t0001g0111 a0004c0003t0002g0122 a0004c0003t0003g0120 a0004c0003t0004g0014 a0004c0003t0004g0015 a0004c0003t0004g0115 a0004c0003t0004g0116 a0004c0003t0004g0123 a0004c0003t0004g0125 a0004c0003t0004g0130 a0004c0003t0004g0201 a0004c0003t0004g0216 a0004c0003t0004g0251 a0004c0003t0004g0277 a0004c0003t0004g0294 a0004c0003t0004g0295 a0004c0003t0004g0296 a0004c0003t0012g0194 a0004c0003t0022g0113 a0004c0003t0022g0119 a0004c0003t0022g0124 a0004c0003t0055g0117 a0004c0003t0056g0114 a0004c0003t0057g0287 a0005c0005t0008g0024 a0005c0005t0008g0340 a0005c0005t0008g0341 a0005c0005t0008g0342 a0005c0005t0008g0344 a0005c0005t0023g0101 a0005c0005t0023g0102 a0005c0005t0023g0103 a0005c0005t0024g0106 a0005c0005t0024g0107 a0005c0005t0024g0182 a0005c0005t0030g0104 a0005c0005t0030g0108 a0005c0014t0008g0274 a0005c0014t0020g0020 a0005c0014t0020g0272 a0005c0014t0020g0273 a0007c0009t0001g0045 a0007c0009t0001g0065 a0007c0009t0001g0068 a0007c0009t0001g0071 a0007c0009t0001g0083 a0007c0009t0019g0067 a0007c0009t0027g0073 a0007c0042t0001g0188 a0008c0007t0006g0348 a0008c0007t0006g0349 a0008c0007t0006g0351 a0008c0007t0006g0352 a0008c0007t0006g0353 a0008c0007t0006g0354 a0008c0007t0006g0356 a0008c0007t0037g0355 a0009c0013t0001g0319 a0009c0013t0001g0320 a0009c0013t0013g0211 a0009c0013t0013g0247 a0009c0013t0013g0249 a0009c0013t0013g0250 a0009c0047t0029g0248 a0010c0008t0004g0011 a0010c0008t0004g0079 a0010c0008t0004g0151 a0010c0008t0004g0174 a0010c0008t0004g0175 a0010c0008t0004g0177 a0011c0010t0014g0178 a0011c0010t0014g0180 a0011c0010t0014g0181 a0011c0010t0031g0212 a0011c0010t0032g0185 a0011c0010t0068g0109 a0011c0027t0014g0179 a0012c0018t0006g0252 a0012c0018t0060g0240 a0012c0018t0067g0105 a0012c0032t0064g0133 a0013c0015t0001g0256 a0013c0015t0001g0275 a0013c0015t0001g0279 a0013c0015t0062g0253 a0014c0017t0025g0221 a0014c0017t0025g0222 a0014c0017t0041g0135 a0015c0019t0006g0006 a0015c0019t0006g0028 a0016c0016t0015g0234 a0016c0016t0015g0235 a0016c0016t0015g0236 a0017c0021t0036g0347 a0017c0021t0038g0345 a0018c0023t0048g0325 a0020c0036t0001g0246 a0023c0041t0063g0112 a0024c0026t0001g0110 a0025c0038t0001g0308 a0026c0039t0008g0346	248	388	0.6392	c.390 others(4): Show c.3907T>C	p.Ser others(7): Show p.Ser1303Pro	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	21/22	4143/7454	3907/4320	1303/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114343732	G G	A A	missense_variant missense_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0021 a0021	a0021c0034 a0021c0034	a0021c0034t0003 a0021c0034t0003	a0021c0034t0003g0152 a0021c0034t0003g0152	1	388	0.0026	c.373 others(4): Show c.3733C>T	p.Arg others(7): Show p.Arg1245Trp	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	19/22	3969/7454	3733/4320	1245/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114347766	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp1 HG00323.hp1 HG00323.hp2 others(30): Show HG00140.hp1 HG00323.hp1 HG00323.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp2 HG01975.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02155.hp1 HG02735.hp1 HG02738.hp2 HG04204.hp1 NA18960.hp1 NA18975.hp2 NA18986.hp2 NA18994.hp1 NA19007.hp1 NA19070.hp2 NA20805.hp1	a0004 a0010 a0004 a0010	a0004c0003 a0010c0008 a0004c0003 a0010c0008	a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 others(7): Show a0004c0003t0001 a0004c0003t0002 a0004c0003t0003 a0004c0003t0004 a0004c0003t0012 a0004c0003t0022 a0004c0003t0055 a0004c0003t0056 a0004c0003t0057 a0010c0008t0004	a0004c0003t0001g0111 a0004c0003t0002g0122 a0004c0003t0003g0120 others(27): Show a0004c0003t0001g0111 a0004c0003t0002g0122 a0004c0003t0003g0120 a0004c0003t0004g0014 a0004c0003t0004g0015 a0004c0003t0004g0115 a0004c0003t0004g0116 a0004c0003t0004g0123 a0004c0003t0004g0125 a0004c0003t0004g0130 a0004c0003t0004g0201 a0004c0003t0004g0216 a0004c0003t0004g0251 a0004c0003t0004g0277 a0004c0003t0004g0294 a0004c0003t0004g0295 a0004c0003t0004g0296 a0004c0003t0012g0194 a0004c0003t0022g0113 a0004c0003t0022g0119 a0004c0003t0022g0124 a0004c0003t0055g0117 a0004c0003t0056g0114 a0004c0003t0057g0287 a0010c0008t0004g0011 a0010c0008t0004g0079 a0010c0008t0004g0151 a0010c0008t0004g0174 a0010c0008t0004g0175 a0010c0008t0004g0177	33	388	0.0851	c.335 others(4): Show c.3356G>A	p.Arg others(7): Show p.Arg1119Gln	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	16/22	3592/7454	3356/4320	1119/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114347832	T T	C C	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01109.hp2 HG01192.hp2 others(76): Show HG01109.hp1 HG01109.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18966.hp2 NA19003.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0003 a0005 a0008 others(9): Show a0003 a0005 a0008 a0009 a0012 a0014 a0015 a0016 a0017 a0023 a0024 a0026	a0003c0006 a0003c0011 a0003c0012 others(16): Show a0003c0006 a0003c0011 a0003c0012 a0003c0029 a0003c0044 a0005c0005 a0005c0014 a0008c0007 a0009c0013 a0009c0047 a0012c0018 a0012c0032 a0014c0017 a0015c0019 a0016c0016 a0017c0021 a0023c0041 a0024c0026 a0026c0039	a0003c0006t0001 a0003c0006t0010 a0003c0006t0015 others(33): Show a0003c0006t0001 a0003c0006t0010 a0003c0006t0015 a0003c0006t0016 a0003c0006t0018 a0003c0006t0044 a0003c0006t0045 a0003c0011t0010 a0003c0011t0018 a0003c0012t0009 a0003c0029t0033 a0003c0044t0042 a0005c0005t0008 a0005c0005t0023 a0005c0005t0024 a0005c0005t0030 a0005c0014t0008 a0005c0014t0020 a0008c0007t0006 a0008c0007t0037 a0009c0013t0001 a0009c0013t0013 a0009c0047t0029 a0012c0018t0006 a0012c0018t0060 a0012c0018t0067 a0012c0032t0064 a0014c0017t0025 a0014c0017t0041 a0015c0019t0006 a0016c0016t0015 a0017c0021t0036 a0017c0021t0038 a0023c0041t0063 a0024c0026t0001 a0026c0039t0008	a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 others(71): Show a0003c0006t0001g0018 a0003c0006t0010g0094 a0003c0006t0010g0237 a0003c0006t0015g0086 a0003c0006t0016g0220 a0003c0006t0016g0224 a0003c0006t0016g0225 a0003c0006t0016g0229 a0003c0006t0018g0226 a0003c0006t0018g0227 a0003c0006t0044g0228 a0003c0006t0045g0230 a0003c0011t0010g0300 a0003c0011t0010g0301 a0003c0011t0010g0310 a0003c0011t0010g0324 a0003c0011t0018g0193 a0003c0011t0018g0198 a0003c0012t0009g0016 a0003c0012t0009g0190 a0003c0012t0009g0191 a0003c0012t0009g0192 a0003c0012t0009g0276 a0003c0029t0033g0343 a0003c0044t0042g0189 a0005c0005t0008g0024 a0005c0005t0008g0340 a0005c0005t0008g0341 a0005c0005t0008g0342 a0005c0005t0008g0344 a0005c0005t0023g0101 a0005c0005t0023g0102 a0005c0005t0023g0103 a0005c0005t0024g0106 a0005c0005t0024g0107 a0005c0005t0024g0182 a0005c0005t0030g0104 a0005c0005t0030g0108 a0005c0014t0008g0274 a0005c0014t0020g0020 a0005c0014t0020g0272 a0005c0014t0020g0273 a0008c0007t0006g0348 a0008c0007t0006g0349 a0008c0007t0006g0351 a0008c0007t0006g0352 a0008c0007t0006g0353 a0008c0007t0006g0354 a0008c0007t0006g0356 a0008c0007t0037g0355 a0009c0013t0001g0319 a0009c0013t0001g0320 a0009c0013t0013g0211 a0009c0013t0013g0247 a0009c0013t0013g0249 a0009c0013t0013g0250 a0009c0047t0029g0248 a0012c0018t0006g0252 a0012c0018t0060g0240 a0012c0018t0067g0105 a0012c0032t0064g0133 a0014c0017t0025g0221 a0014c0017t0025g0222 a0014c0017t0041g0135 a0015c0019t0006g0006 a0015c0019t0006g0028 a0016c0016t0015g0234 a0016c0016t0015g0235 a0016c0016t0015g0236 a0017c0021t0036g0347 a0017c0021t0038g0345 a0023c0041t0063g0112 a0024c0026t0001g0110 a0026c0039t0008g0346	79	388	0.2036	c.329 others(4): Show c.3290A>G	p.Gln others(7): Show p.Gln1097Arg	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	16/22	3526/7454	3290/4320	1097/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114347880	T T	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG03139.hp1 HG01243.hp2 HG03139.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0036 a0017c0021t0038 a0017c0021t0036 a0017c0021t0038	a0017c0021t0036g0347 a0017c0021t0038g0345 a0017c0021t0036g0347 a0017c0021t0038g0345	2	388	0.0052	c.324 others(4): Show c.3242A>G	p.Gln others(7): Show p.Gln1081Arg	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	16/22	3478/7454	3242/4320	1081/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114356099	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp2 HG02809.hp1 HG02886.hp1 others(4): Show HG02486.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG03225.hp2 HG03579.hp1	a0011 a0011	a0011c0010 a0011c0027 a0011c0010 a0011c0027	a0011c0010t0014 a0011c0010t0031 a0011c0010t0032 others(2): Show a0011c0010t0014 a0011c0010t0031 a0011c0010t0032 a0011c0010t0068 a0011c0027t0014	a0011c0010t0014g0178 a0011c0010t0014g0180 a0011c0010t0014g0181 others(4): Show a0011c0010t0014g0178 a0011c0010t0014g0180 a0011c0010t0014g0181 a0011c0010t0031g0212 a0011c0010t0032g0185 a0011c0010t0068g0109 a0011c0027t0014g0179	7	388	0.0180	c.288 others(4): Show c.2884G>A	p.Val others(6): Show p.Val962Met	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	14/22	3120/7454	2884/4320	962/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114358057	G G	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0020 a0020	a0020c0036 a0020c0036	a0020c0036t0001 a0020c0036t0001	a0020c0036t0001g0246 a0020c0036t0001g0246	1	388	0.0026	c.260 others(4): Show c.2603C>T	p.Pro others(6): Show p.Pro868Leu	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	12/22	2839/7454	2603/4320	868/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114360044	C C	T T	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0023 a0023	a0023c0041 a0023c0041	a0023c0041t0063 a0023c0041t0063	a0023c0041t0063g0112 a0023c0041t0063g0112	1	388	0.0026	c.214 others(4): Show c.2143G>A	p.Ala others(6): Show p.Ala715Thr	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	10/22	2379/7454	2143/4320	715/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114361756	G G	C C	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0022 a0022	a0022c0037 a0022c0037	a0022c0037t0052 a0022c0037t0052	a0022c0037t0052g0167 a0022c0037t0052g0167	1	388	0.0026	c.207 others(4): Show c.2072C>G	p.Pro others(6): Show p.Pro691Arg	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	9/22	2308/7454	2072/4320	691/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114361808	C C	G G	missense_variant missense_variant	MODERATE	NA18522.hp2 NA18522.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0001 a0024c0026t0001	a0024c0026t0001g0110 a0024c0026t0001g0110	1	388	0.0026	c.202 others(4): Show c.2020G>C	p.Ala others(6): Show p.Ala674Pro	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	9/22	2256/7454	2020/4320	674/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114362451	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02451.hp2 HG02622.hp1 HG02735.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0007 a0010 others(5): Show a0001 a0007 a0010 a0019 a0020 a0021 a0022 a0027	a0001c0001 a0001c0020 a0001c0033 others(10): Show a0001c0001 a0001c0020 a0001c0033 a0001c0035 a0001c0045 a0007c0009 a0007c0042 a0010c0008 a0019c0024 a0020c0036 a0021c0034 a0022c0037 a0027c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0026 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0043 a0001c0001t0049 a0001c0001t0053 a0001c0001t0058 a0001c0001t0069 a0001c0020t0003 a0001c0033t0051 a0001c0035t0001 a0001c0045t0039 a0007c0009t0001 a0007c0009t0019 a0007c0009t0027 a0007c0042t0001 a0010c0008t0004 a0019c0024t0002 a0020c0036t0001 a0021c0034t0003 a0022c0037t0052 a0027c0040t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 others(126): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0047 a0001c0001t0001g0064 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0095 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0143 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0173 a0001c0001t0002g0184 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0003g0003 a0001c0001t0003g0033 a0001c0001t0003g0042 a0001c0001t0003g0061 a0001c0001t0003g0066 a0001c0001t0003g0141 a0001c0001t0003g0144 a0001c0001t0003g0146 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0176 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0004g0163 a0001c0001t0004g0271 a0001c0001t0005g0002 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0139 a0001c0001t0007g0008 a0001c0001t0007g0048 a0001c0001t0007g0052 a0001c0001t0007g0075 a0001c0001t0007g0090 a0001c0001t0007g0140 a0001c0001t0011g0030 a0001c0001t0011g0031 a0001c0001t0011g0245 a0001c0001t0013g0161 a0001c0001t0017g0059 a0001c0001t0017g0072 a0001c0001t0017g0088 a0001c0001t0017g0091 a0001c0001t0021g0019 a0001c0001t0021g0145 a0001c0001t0026g0171 a0001c0001t0034g0263 a0001c0001t0035g0041 a0001c0001t0040g0070 a0001c0001t0043g0077 a0001c0001t0049g0138 a0001c0001t0053g0238 a0001c0001t0058g0150 a0001c0001t0069g0358 a0001c0020t0003g0142 a0001c0020t0003g0147 a0001c0033t0051g0025 a0001c0035t0001g0062 a0001c0045t0039g0186 a0007c0009t0001g0045 a0007c0009t0001g0065 a0007c0009t0001g0068 a0007c0009t0001g0071 a0007c0009t0001g0083 a0007c0009t0019g0067 a0007c0009t0027g0073 a0007c0042t0001g0188 a0010c0008t0004g0011 a0010c0008t0004g0079 a0010c0008t0004g0151 a0010c0008t0004g0174 a0010c0008t0004g0175 a0010c0008t0004g0177 a0019c0024t0002g0032 a0020c0036t0001g0246 a0021c0034t0003g0152 a0022c0037t0052g0167 a0027c0040t0002g0097	139	388	0.3583	c.187 others(4): Show c.1871C>T	p.Pro others(6): Show p.Pro624Leu	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	8/22	2107/7454	1871/4320	624/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114362506	C C	A A	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0025 a0025	a0025c0038 a0025c0038	a0025c0038t0001 a0025c0038t0001	a0025c0038t0001g0308 a0025c0038t0001g0308	1	388	0.0026	c.181 others(4): Show c.1816G>T	p.Ala others(6): Show p.Ala606Ser	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	8/22	2052/7454	1816/4320	606/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114367641	G G	C C	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02109.hp1 HG02280.hp2 others(11): Show HG01243.hp2 HG02109.hp1 HG02280.hp2 HG02572.hp2 HG02717.hp2 HG02895.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp1	a0008 a0015 a0017 others(1): Show a0008 a0015 a0017 a0026	a0008c0007 a0015c0019 a0017c0021 others(1): Show a0008c0007 a0015c0019 a0017c0021 a0026c0039	a0008c0007t0006 a0008c0007t0037 a0015c0019t0006 others(3): Show a0008c0007t0006 a0008c0007t0037 a0015c0019t0006 a0017c0021t0036 a0017c0021t0038 a0026c0039t0008	a0008c0007t0006g0348 a0008c0007t0006g0349 a0008c0007t0006g0351 others(10): Show a0008c0007t0006g0348 a0008c0007t0006g0349 a0008c0007t0006g0351 a0008c0007t0006g0352 a0008c0007t0006g0353 a0008c0007t0006g0354 a0008c0007t0006g0356 a0008c0007t0037g0355 a0015c0019t0006g0006 a0015c0019t0006g0028 a0017c0021t0036g0347 a0017c0021t0038g0345 a0026c0039t0008g0346	14	388	0.0361	c.163 others(4): Show c.1630C>G	p.Leu others(6): Show p.Leu544Val	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	6/22	1866/7454	1630/4320	544/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114368496	G G	A A	missense_variant missense_variant	MODERATE	HG01981.hp1 HG02055.hp2 HG02280.hp1 others(4): Show HG01981.hp1 HG02055.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2	a0009 a0009	a0009c0013 a0009c0047 a0009c0013 a0009c0047	a0009c0013t0001 a0009c0013t0013 a0009c0047t0029 a0009c0013t0001 a0009c0013t0013 a0009c0047t0029	a0009c0013t0001g0319 a0009c0013t0001g0320 a0009c0013t0013g0211 others(4): Show a0009c0013t0001g0319 a0009c0013t0001g0320 a0009c0013t0013g0211 a0009c0013t0013g0247 a0009c0013t0013g0249 a0009c0013t0013g0250 a0009c0047t0029g0248	7	388	0.0180	c.151 others(4): Show c.1516C>T	p.Arg others(6): Show p.Arg506Cys	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	5/22	1752/7454	1516/4320	506/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114368558	C C	T T	missense_variant missense_variant	MODERATE	HG01109.hp1 HG02109.hp2 HG03453.hp2 HG01109.hp1 HG02109.hp2 HG03453.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0025 a0014c0017t0041 a0014c0017t0025 a0014c0017t0041	a0014c0017t0025g0221 a0014c0017t0025g0222 a0014c0017t0041g0135 a0014c0017t0025g0221 a0014c0017t0025g0222 a0014c0017t0041g0135	3	388	0.0077	c.145 others(4): Show c.1454G>A	p.Ser others(6): Show p.Ser485Asn	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	5/22	1690/7454	1454/4320	485/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114376566	G G	T T	missense_variant missense_variant	MODERATE	NA18942.hp2 NA19074.hp2 NA19084.hp1 NA18942.hp2 NA19074.hp2 NA19084.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0015 a0016c0016t0015	a0016c0016t0015g0234 a0016c0016t0015g0235 a0016c0016t0015g0236 a0016c0016t0015g0234 a0016c0016t0015g0235 a0016c0016t0015g0236	3	388	0.0077	c.124 others(4): Show c.1241C>A	p.Ala others(6): Show p.Ala414Glu	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	3/22	1477/7454	1241/4320	414/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114376692	T T	C C	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0027 a0027	a0027c0040 a0027c0040	a0027c0040t0002 a0027c0040t0002	a0027c0040t0002g0097 a0027c0040t0002g0097	1	388	0.0026	c.111 others(4): Show c.1115A>G	p.Lys others(6): Show p.Lys372Arg	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	3/22	1351/7454	1115/4320	372/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114376755	C C	T T	missense_variant missense_variant	MODERATE	HG03017.hp1 HG03017.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0002 a0019c0024t0002	a0019c0024t0002g0032 a0019c0024t0002g0032	1	388	0.0026	c.105 others(4): Show c.1052G>A	p.Arg others(6): Show p.Arg351Gln	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	3/22	1288/7454	1052/4320	351/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114376973	A A	C C	missense_variant missense_variant	MODERATE	HG00544.hp2 HG02135.hp2 NA18968.hp2 others(1): Show HG00544.hp2 HG02135.hp2 NA18968.hp2 NA19066.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0062 a0013c0015t0001 a0013c0015t0062	a0013c0015t0001g0256 a0013c0015t0001g0275 a0013c0015t0001g0279 others(1): Show a0013c0015t0001g0256 a0013c0015t0001g0275 a0013c0015t0001g0279 a0013c0015t0062g0253	4	388	0.0103	c.834 others(3): Show c.834T>G	p.Asp others(6): Show p.Asp278Glu	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	3/22	1070/7454	834/4320	278/1439	chr9	TogoVar
AKNA_chr9_114329156_114392982	114377154	G G	T T	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0018 a0018	a0018c0023 a0018c0023	a0018c0023t0048 a0018c0023t0048	a0018c0023t0048g0325 a0018c0023t0048g0325	1	388	0.0026	c.653 others(3): Show c.653C>A	p.Thr others(6): Show p.Thr218Asn	AKNA	ENSG00000106948.17	transcript	ENST00000374088.8	protein_coding	3/22	889/7454	653/4320	218/1439	chr9	TogoVar
AKR1A1_chr1_45545826_45575049	45561805	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp2 HG02630.hp1 HG01243.hp2 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0218 a0003c0003t0003g0219 a0003c0003t0003g0218 a0003c0003t0003g0219	2	352	0.0057	c.11C others(2): Show c.11C>T	p.Ser others(4): Show p.Ser4Phe	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	2/9	347/1407	11/978	4/325	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45566635	G G	A A	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0001 a0007c0004t0001	a0007c0004t0001g0195 a0007c0004t0001g0195	1	352	0.0028	c.151 others(3): Show c.151G>A	p.Gly others(5): Show p.Gly51Ser	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	3/9	487/1407	151/978	51/325	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45566639	A A	G G	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01099.hp1 HG01257.hp1 HG00735.hp1 HG01099.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0023 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0023 a0002c0002t0001g0056 a0002c0002t0001g0057	3	352	0.0085	c.155 others(3): Show c.155A>G	p.Asn others(5): Show p.Asn52Ser	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	3/9	491/1407	155/978	52/325	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45568591	G G	T T	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0204 a0004c0006t0002g0204	1	352	0.0028	c.659 others(3): Show c.659G>T	p.Trp others(6): Show p.Trp220Leu	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	6/9	995/1407	659/978	220/325	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45569222	T T	G G	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0180 a0006c0007t0001g0180	1	352	0.0028	c.905 others(3): Show c.905T>G	p.Met others(6): Show p.Met302Arg	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	8/9	1241/1407	905/978	302/325	chr1	TogoVar
AKR1A1_chr1_45545826_45575049	45569228	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19074.hp1 NA19074.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0125 a0005c0008t0002g0125	1	352	0.0028	c.911 others(3): Show c.911C>T	p.Thr others(6): Show p.Thr304Met	AKR1A1	ENSG00000117448.14	transcript	ENST00000351829.9	protein_coding	8/9	1247/1407	911/978	304/325	chr1	TogoVar
AKR1B10_chr7_134522567_134546412	134530644	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19075.hp2 NA19075.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0001 a0008c0018t0001g0001	1	448	0.0022	c.68C others(2): Show c.68C>T	p.Ser others(5): Show p.Ser23Phe	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	2/10	413/1619	68/951	23/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134531932	C C	T T	missense_variant missense_variant	MODERATE	HG00423.hp2 HG00558.hp2 HG02015.hp1 others(43): Show HG00423.hp2 HG00558.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp2 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18960.hp2 NA18963.hp1 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp2 NA18985.hp1 NA18989.hp2 NA18994.hp1 NA18997.hp1 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19009.hp1 NA19012.hp2 NA19059.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19087.hp1	a0002 a0006 a0002 a0006	a0002c0003 a0002c0014 a0006c0009 a0002c0003 a0002c0014 a0006c0009	a0002c0003t0001 a0002c0014t0001 a0006c0009t0001 a0002c0003t0001 a0002c0014t0001 a0006c0009t0001	a0002c0003t0001g0006 a0002c0003t0001g0011 a0002c0003t0001g0013 others(19): Show a0002c0003t0001g0006 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0072 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0014t0001g0006 a0006c0009t0001g0006 a0006c0009t0001g0011 a0006c0009t0001g0086	46	448	0.1027	c.259 others(3): Show c.259C>T	p.Pro others(5): Show p.Pro87Ser	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	3/10	604/1619	259/951	87/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134537588	C C	G G	missense_variant missense_variant	MODERATE	HG02922.hp1 NA19240.hp1 HG02922.hp1 NA19240.hp1	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0026 a0007c0010t0001g0026	2	448	0.0045	c.668 others(3): Show c.668C>G	p.Pro others(6): Show p.Pro223Arg	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	7/10	1013/1619	668/951	223/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134538228	T T	C C	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0001 a0011c0016t0001g0001	1	448	0.0022	c.776 others(3): Show c.776T>C	p.Ile others(6): Show p.Ile259Thr	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	8/10	1121/1619	776/951	259/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134538258	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00733.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0138 a0009c0013t0002g0138	1	448	0.0022	c.806 others(3): Show c.806G>A	p.Arg others(6): Show p.Arg269His	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	8/10	1151/1619	806/951	269/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134538966	T T	C C	missense_variant missense_variant	MODERATE	HG00621.hp2 HG01069.hp2 HG01074.hp2 others(25): Show HG00621.hp2 HG01069.hp2 HG01074.hp2 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02004.hp2 HG02148.hp1 HG02523.hp1 NA18948.hp1 NA18949.hp2 NA18957.hp2 NA18962.hp2 NA18982.hp1 NA18985.hp2 NA19009.hp2 NA19063.hp1 NA19064.hp2 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19085.hp2	a0003 a0004 a0003 a0004	a0003c0004 a0004c0015 a0003c0004 a0004c0015	a0003c0004t0001 a0004c0015t0001 a0003c0004t0001 a0004c0015t0001	a0003c0004t0001g0007 a0003c0004t0001g0009 a0003c0004t0001g0019 others(7): Show a0003c0004t0001g0007 a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0088 a0003c0004t0001g0096 a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0130 a0004c0015t0001g0009	28	448	0.0625	c.857 others(3): Show c.857T>C	p.Met others(6): Show p.Met286Thr	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	9/10	1202/1619	857/951	286/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134539017	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02165.hp1 HG02165.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0001 a0010c0017t0001	a0010c0017t0001g0001 a0010c0017t0001g0001	1	448	0.0022	c.908 others(3): Show c.908A>G	p.Gln others(6): Show p.Gln303Arg	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	9/10	1253/1619	908/951	303/316	chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134541075	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(439): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 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 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.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 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.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 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.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 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.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 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 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(7): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0008 others(14): Show a0001c0001 a0001c0002 a0001c0008 a0001c0011 a0001c0012 a0002c0003 a0002c0014 a0003c0004 a0004c0005 a0004c0006 a0004c0015 a0006c0009 a0007c0010 a0008c0018 a0009c0013 a0010c0017 a0011c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0008t0001 a0001c0011t0001 a0001c0012t0001 a0002c0003t0001 a0002c0014t0001 a0003c0004t0001 a0004c0005t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0003 a0004c0006t0009 a0004c0015t0001 a0006c0009t0001 a0007c0010t0001 a0008c0018t0001 a0009c0013t0002 a0010c0017t0001 a0011c0016t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(175): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0066 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0003g0048 a0001c0001t0007g0110 a0001c0001t0010g0012 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0055 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0080 a0001c0002t0001g0083 a0001c0002t0001g0125 a0001c0002t0001g0128 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0002g0002 a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0014 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0033 a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0159 a0001c0002t0002g0160 a0001c0002t0002g0161 a0001c0002t0003g0032 a0001c0002t0003g0056 a0001c0002t0004g0057 a0001c0002t0005g0036 a0001c0002t0006g0002 a0001c0002t0006g0059 a0001c0002t0008g0149 a0001c0008t0001g0034 a0001c0008t0001g0064 a0001c0008t0001g0065 a0001c0011t0001g0015 a0001c0012t0001g0087 a0002c0003t0001g0006 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0037 a0002c0003t0001g0038 a0002c0003t0001g0040 a0002c0003t0001g0041 a0002c0003t0001g0072 a0002c0003t0001g0074 a0002c0003t0001g0075 a0002c0003t0001g0076 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0001g0079 a0002c0003t0001g0081 a0002c0003t0001g0082 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0014t0001g0006 a0003c0004t0001g0007 a0003c0004t0001g0009 a0003c0004t0001g0019 a0003c0004t0001g0088 a0003c0004t0001g0096 a0003c0004t0001g0112 a0003c0004t0001g0113 a0003c0004t0001g0114 a0003c0004t0001g0130 a0004c0005t0001g0004 a0004c0005t0001g0020 a0004c0005t0001g0047 a0004c0005t0001g0054 a0004c0005t0001g0098 a0004c0005t0001g0117 a0004c0006t0001g0017 a0004c0006t0002g0002 a0004c0006t0002g0150 a0004c0006t0003g0056 a0004c0006t0009g0162 a0004c0015t0001g0009 a0006c0009t0001g0006 a0006c0009t0001g0011 a0006c0009t0001g0086 a0007c0010t0001g0026 a0008c0018t0001g0001 a0009c0013t0002g0138 a0010c0017t0001g0001 a0011c0016t0001g0001	442	448	0.9866	c.937 others(3): Show c.937A>G	p.Asn others(6): Show p.Asn313Asp	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding	10/10	1282/1619	937/951	313/316	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134564731	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp1 HG02257.hp1	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0001 a0004c0014t0001	a0004c0014t0001g0011 a0004c0014t0001g0011	1	404	0.0025	c.112 others(3): Show c.112A>G	p.Thr others(5): Show p.Thr38Ala	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	3/12	398/1641	112/1035	38/344	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134568167	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0090 a0009c0007t0001g0090	1	404	0.0025	c.160 others(3): Show c.160G>A	p.Gly others(5): Show p.Gly54Ser	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	4/12	446/1641	160/1035	54/344	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134568174	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01884.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0095 a0005c0008t0001g0095	1	404	0.0025	c.167 others(3): Show c.167T>C	p.Val others(5): Show p.Val56Ala	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	4/12	453/1641	167/1035	56/344	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134568290	G G	A A	missense_variant missense_variant	MODERATE	NA18953.hp2 NA18971.hp2 NA18991.hp2 others(1): Show NA18953.hp2 NA18971.hp2 NA18991.hp2 NA18993.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0002 a0003c0005t0001g0047 a0003c0005t0001g0139 a0003c0005t0001g0002 a0003c0005t0001g0047 a0003c0005t0001g0139	4	404	0.0099	c.283 others(3): Show c.283G>A	p.Ala others(5): Show p.Ala95Thr	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	4/12	569/1641	283/1035	95/344	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134569427	C C	G G	missense_variant missense_variant	MODERATE	HG00423.hp1 HG02165.hp1 NA18992.hp1 others(1): Show HG00423.hp1 HG02165.hp1 NA18992.hp1 NA19080.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0119 a0002c0006t0001g0121 a0002c0006t0001g0122 others(1): Show a0002c0006t0001g0119 a0002c0006t0001g0121 a0002c0006t0001g0122 a0002c0006t0001g0123	4	404	0.0099	c.333 others(3): Show c.333C>G	p.Phe others(6): Show p.Phe111Leu	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	5/12	619/1641	333/1035	111/344	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134575843	C C	T T	missense_variant missense_variant	MODERATE	HG02738.hp1 HG02738.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0004 a0007c0011t0001g0004	1	404	0.0025	c.659 others(3): Show c.659C>T	p.Thr others(6): Show p.Thr220Met	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	8/12	945/1641	659/1035	220/344	chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134576422	A A	G G	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0005 a0008c0010t0001g0005	1	404	0.0025	c.817 others(3): Show c.817A>G	p.Thr others(6): Show p.Thr273Ala	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	9/12	1103/1641	817/1035	273/344	chr7	TogoVar
AKR1B1_chr7_134437356_134464100	134449722	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01981.hp2 HG01981.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0140 a0003c0004t0001g0140	1	446	0.0022	c.427 others(3): Show c.427G>A	p.Ala others(6): Show p.Ala143Thr	AKR1B1	ENSG00000085662.14	transcript	ENST00000285930.9	protein_coding	4/10	465/1361	427/951	143/316	chr7	TogoVar
AKR1B1_chr7_134437356_134464100	134450869	T T	C C	missense_variant missense_variant	MODERATE	HG01358.hp2 HG04204.hp2 HG01358.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0042 a0002c0003t0001g0042	2	446	0.0045	c.268 others(3): Show c.268A>G	p.Lys others(5): Show p.Lys90Glu	AKR1B1	ENSG00000085662.14	transcript	ENST00000285930.9	protein_coding	3/10	306/1361	268/951	90/316	chr7	TogoVar
AKR1C1_chr10_4958415_4988283	4967043	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18985.hp1 NA18985.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0164 a0006c0015t0164	a0006c0015t0164g0063 a0006c0015t0164g0063	1	426	0.0024	c.369 others(3): Show c.369G>T	p.Lys others(6): Show p.Lys123Asn	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	3/9	399/6543	369/972	123/323	chr10	TogoVar
AKR1C1_chr10_4958415_4988283	4968379	C C	T T	missense_variant missense_variant	MODERATE	NA19084.hp2 NA19084.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0105 a0005c0014t0001g0105	1	426	0.0024	c.440 others(3): Show c.440C>T	p.Thr others(6): Show p.Thr147Ile	AKR1C1	ENSG00000187134.14	transcript	ENST00000380872.9	protein_coding	4/9	470/6543	440/972	147/323	chr10	TogoVar

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