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	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	status	chr	external
EIF1AX_chrX_20119525_20146838	20135846	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0078 a0001c0001t0015g0078	1	278	0.0036	0	c.101 others(5): Show c.101-5G>A		EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding	2/6					chrX	TogoVar
EIF1AX_chrX_20119525_20146838	20135847	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01256.hp1 HG01496.hp1 HG02109.hp2 HG01256.hp1 HG01496.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0019 a0001c0001t0011g0032 a0001c0001t0011g0019 a0001c0001t0011g0032	3	278	0.0108	0	c.101 others(5): Show c.101-6C>T		EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding	2/6					chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6028705	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	2	418	0.0048	0	c.144 others(6): Show c.1448-8A>T		EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	12/14					chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6041222	GA GA	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(314): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 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.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02809.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 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0014	a0001c0001 a0001c0002 a0002c0003 others(11): Show a0001c0001 a0001c0002 a0002c0003 a0002c0012 a0003c0005 a0005c0007 a0006c0009 a0007c0010 a0008c0011 a0009c0013 a0011c0014 a0012c0015 a0013c0017 a0014c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0002t0001 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0002t0030 a0002c0003t0001 a0002c0003t0009 a0002c0003t0012 a0002c0003t0013 a0002c0003t0025 a0002c0003t0029 a0002c0003t0031 a0002c0012t0001 a0003c0005t0001 a0005c0007t0015 a0006c0009t0001 a0007c0010t0002 a0008c0011t0024 a0009c0013t0001 a0011c0014t0001 a0012c0015t0001 a0013c0017t0001 a0014c0018t0014	a0001c0001t0001g0293 a0001c0001t0002g0002 a0001c0001t0002g0003 others(302): Show a0001c0001t0001g0293 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0003g0022 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0075 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0115 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0140 a0001c0001t0003g0250 a0001c0001t0006g0372 a0001c0001t0006g0373 a0001c0001t0006g0374 a0001c0001t0006g0375 a0001c0001t0006g0376 a0001c0001t0006g0377 a0001c0001t0006g0378 a0001c0001t0006g0379 a0001c0001t0006g0380 a0001c0001t0006g0381 a0001c0001t0006g0387 a0001c0001t0006g0388 a0001c0001t0006g0389 a0001c0001t0014g0053 a0001c0001t0017g0067 a0001c0001t0018g0102 a0001c0001t0019g0021 a0001c0001t0020g0280 a0001c0001t0021g0193 a0001c0001t0026g0098 a0001c0002t0001g0009 a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0230 a0001c0002t0001g0382 a0001c0002t0001g0383 a0001c0002t0001g0384 a0001c0002t0008g0007 a0001c0002t0008g0146 a0001c0002t0008g0148 a0001c0002t0008g0149 a0001c0002t0008g0150 a0001c0002t0008g0151 a0001c0002t0009g0147 a0001c0002t0009g0157 a0001c0002t0009g0158 a0001c0002t0009g0172 a0001c0002t0009g0175 a0001c0002t0010g0008 a0001c0002t0010g0205 a0001c0002t0010g0206 a0001c0002t0023g0198 a0001c0002t0030g0393 a0002c0003t0001g0010 a0002c0003t0001g0011 a0002c0003t0001g0012 a0002c0003t0001g0106 a0002c0003t0001g0199 a0002c0003t0001g0228 a0002c0003t0001g0229 a0002c0003t0001g0232 a0002c0003t0001g0233 a0002c0003t0001g0234 a0002c0003t0001g0235 a0002c0003t0001g0236 a0002c0003t0001g0239 a0002c0003t0001g0240 a0002c0003t0001g0241 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0002c0003t0001g0245 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0257 a0002c0003t0001g0258 a0002c0003t0001g0260 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0264 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0001g0268 a0002c0003t0001g0269 a0002c0003t0001g0270 a0002c0003t0001g0271 a0002c0003t0001g0272 a0002c0003t0001g0273 a0002c0003t0001g0277 a0002c0003t0001g0278 a0002c0003t0001g0279 a0002c0003t0001g0281 a0002c0003t0001g0282 a0002c0003t0001g0284 a0002c0003t0001g0285 a0002c0003t0001g0286 a0002c0003t0001g0287 a0002c0003t0001g0290 a0002c0003t0001g0291 a0002c0003t0001g0292 a0002c0003t0001g0294 a0002c0003t0001g0295 a0002c0003t0001g0296 a0002c0003t0001g0297 a0002c0003t0001g0386 a0002c0003t0009g0237 a0002c0003t0009g0238 a0002c0003t0012g0261 a0002c0003t0012g0274 a0002c0003t0013g0253 a0002c0003t0013g0276 a0002c0003t0025g0275 a0002c0003t0029g0259 a0002c0003t0031g0396 a0002c0012t0001g0227 a0003c0005t0001g0144 a0003c0005t0001g0145 a0003c0005t0001g0153 a0005c0007t0015g0394 a0005c0007t0015g0395 a0006c0009t0001g0385 a0007c0010t0002g0081 a0008c0011t0024g0283 a0009c0013t0001g0289 a0011c0014t0001g0231 a0012c0015t0001g0224 a0013c0017t0001g0165 a0014c0018t0014g0074	317	418	0.7584	-1	c.792 others(6): Show c.792-4delT		EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	8/14					chr7	TogoVar
EIF2AK3_chr2_88551741_88632464	88557934	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0234 a0001c0016t0001g0234	1	366	0.0027	0	c.315 others(4): Show c.3153C>T	p.Tyr others(7): Show p.Tyr1051Tyr	EIF2AK3	ENSG00000172071.15	transcript	ENST00000303236.9	protein_coding	17/17	3343/4536	3153/3351	1051/1116		chr2	TogoVar
EIF2AK3_chr2_88551741_88632464	88583424	T T	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(79): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp1 HG00621.hp2 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01175.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01934.hp2 HG02055.hp1 HG02074.hp1 HG02080.hp2 HG02135.hp2 HG02257.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 NA18522.hp1 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18953.hp2 NA18956.hp2 NA18961.hp2 NA18965.hp1 NA18967.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18994.hp1 NA18998.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19075.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp2 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 others(2): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0008 a0003c0014t0001	a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0008 others(72): Show a0003c0003t0001g0003 a0003c0003t0001g0007 a0003c0003t0001g0008 a0003c0003t0001g0009 a0003c0003t0001g0010 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0024 a0003c0003t0001g0025 a0003c0003t0001g0026 a0003c0003t0001g0027 a0003c0003t0001g0028 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0047 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0003t0001g0051 a0003c0003t0001g0052 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0055 a0003c0003t0001g0056 a0003c0003t0001g0057 a0003c0003t0001g0058 a0003c0003t0001g0059 a0003c0003t0001g0060 a0003c0003t0001g0062 a0003c0003t0001g0063 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0069 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0072 a0003c0003t0001g0073 a0003c0003t0001g0074 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0001g0078 a0003c0003t0001g0079 a0003c0003t0001g0080 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0083 a0003c0003t0001g0084 a0003c0003t0001g0086 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0002g0019 a0003c0003t0002g0331 a0003c0003t0002g0332 a0003c0003t0005g0020 a0003c0003t0008g0061 a0003c0014t0001g0040	82	366	0.2240	0	c.176 others(6): Show c.1763+6A>T		EIF2AK3	ENSG00000172071.15	transcript	ENST00000303236.9	protein_coding	10/16					chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	39976851	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00544.hp1 HG00597.hp1 HG00639.hp2 others(79): Show HG00544.hp1 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01069.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 NA18940.hp2 NA18941.hp1 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18969.hp2 NA18983.hp1 NA18984.hp2 NA18990.hp2 NA19001.hp2 NA19002.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19066.hp1 NA19068.hp1 NA19077.hp1 NA19080.hp1 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0002 a0014 a0015 a0002 a0014 a0015	a0002c0002 a0002c0004 a0002c0011 others(6): Show a0002c0002 a0002c0004 a0002c0011 a0002c0013 a0002c0019 a0002c0029 a0002c0030 a0014c0028 a0015c0027	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(16): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0014 a0002c0011t0002 a0002c0013t0001 a0002c0019t0001 a0002c0029t0002 a0002c0030t0002 a0014c0028t0002 a0015c0027t0002	a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0360 others(78): Show a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0360 a0002c0002t0001g0362 a0002c0002t0002g0305 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0314 a0002c0002t0002g0334 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0003g0049 a0002c0002t0003g0050 a0002c0002t0003g0277 a0002c0002t0003g0318 a0002c0002t0003g0319 a0002c0002t0005g0021 a0002c0002t0008g0324 a0002c0002t0010g0046 a0002c0004t0001g0005 a0002c0004t0001g0007 a0002c0004t0001g0041 a0002c0004t0001g0051 a0002c0004t0001g0210 a0002c0004t0001g0258 a0002c0004t0001g0272 a0002c0004t0001g0275 a0002c0004t0001g0278 a0002c0004t0001g0301 a0002c0004t0001g0304 a0002c0004t0001g0313 a0002c0004t0001g0316 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0323 a0002c0004t0001g0325 a0002c0004t0001g0326 a0002c0004t0001g0327 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0330 a0002c0004t0001g0343 a0002c0004t0001g0346 a0002c0004t0001g0348 a0002c0004t0001g0350 a0002c0004t0001g0353 a0002c0004t0001g0358 a0002c0004t0001g0359 a0002c0004t0002g0229 a0002c0004t0002g0273 a0002c0004t0002g0276 a0002c0004t0002g0312 a0002c0004t0002g0315 a0002c0004t0002g0317 a0002c0004t0002g0333 a0002c0004t0002g0349 a0002c0004t0002g0354 a0002c0004t0003g0257 a0002c0004t0003g0264 a0002c0004t0004g0331 a0002c0004t0004g0341 a0002c0004t0005g0114 a0002c0004t0014g0303 a0002c0011t0002g0096 a0002c0011t0002g0302 a0002c0011t0002g0332 a0002c0011t0002g0347 a0002c0013t0001g0279 a0002c0013t0001g0280 a0002c0013t0001g0281 a0002c0013t0001g0283 a0002c0019t0001g0282 a0002c0029t0002g0307 a0002c0030t0002g0306 a0014c0028t0002g0308 a0015c0027t0002g0024	82	368	0.2228	0	c.224 others(6): Show c.2249+7G>A		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	12/38					chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	39985801	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18964.hp1 NA18974.hp1 NA18993.hp1 others(2): Show NA18964.hp1 NA18974.hp1 NA18993.hp1 NA19079.hp2 NA19087.hp2	a0007 a0013 a0007 a0013	a0007c0009 a0013c0023 a0007c0009 a0013c0023	a0007c0009t0003 a0013c0023t0003 a0007c0009t0003 a0013c0023t0003	a0007c0009t0003g0230 a0007c0009t0003g0232 a0007c0009t0003g0234 others(2): Show a0007c0009t0003g0230 a0007c0009t0003g0232 a0007c0009t0003g0234 a0007c0009t0003g0235 a0013c0023t0003g0233	5	368	0.0136	0	c.232 others(6): Show c.2320-4T>G		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	13/38					chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40002705	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0009 a0002c0031t0009	a0002c0031t0009g0045 a0002c0031t0009g0045	1	368	0.0027	0	c.316 others(6): Show c.3160-8T>C		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	21/38					chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40030351	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(313): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.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 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 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 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0001c0005 a0001c0020 others(32): Show a0001c0001 a0001c0005 a0001c0020 a0001c0021 a0001c0022 a0001c0033 a0002c0002 a0002c0004 a0002c0011 a0002c0013 a0002c0019 a0002c0029 a0002c0030 a0002c0031 a0003c0003 a0003c0010 a0003c0025 a0003c0026 a0004c0006 a0004c0007 a0004c0037 a0005c0008 a0005c0014 a0006c0012 a0006c0032 a0007c0009 a0008c0015 a0009c0016 a0010c0018 a0011c0017 a0012c0024 a0013c0023 a0014c0028 a0015c0027 a0016c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(66): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0005t0001 a0001c0005t0002 a0001c0005t0004 a0001c0005t0005 a0001c0020t0001 a0001c0021t0003 a0001c0022t0002 a0001c0033t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0005 a0002c0004t0014 a0002c0011t0002 a0002c0013t0001 a0002c0019t0001 a0002c0029t0002 a0002c0030t0002 a0002c0031t0009 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0006 a0003c0003t0013 a0003c0010t0001 a0003c0025t0004 a0003c0026t0001 a0004c0006t0001 a0004c0006t0002 a0004c0006t0004 a0004c0006t0006 a0004c0007t0001 a0004c0007t0002 a0004c0037t0001 a0005c0008t0001 a0005c0008t0004 a0005c0014t0004 a0006c0012t0001 a0006c0012t0002 a0006c0012t0003 a0006c0032t0005 a0007c0009t0003 a0008c0015t0005 a0008c0015t0006 a0009c0016t0007 a0010c0018t0005 a0011c0017t0002 a0012c0024t0002 a0013c0023t0003 a0014c0028t0002 a0015c0027t0002 a0016c0034t0001	a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0115 others(308): Show a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0244 a0001c0001t0001g0356 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0090 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0152 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0178 a0001c0001t0002g0206 a0001c0001t0002g0220 a0001c0001t0002g0223 a0001c0001t0003g0209 a0001c0001t0003g0222 a0001c0001t0003g0246 a0001c0001t0004g0195 a0001c0001t0004g0245 a0001c0001t0005g0014 a0001c0001t0005g0023 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0033 a0001c0001t0011g0164 a0001c0001t0012g0156 a0001c0005t0001g0032 a0001c0005t0001g0034 a0001c0005t0001g0125 a0001c0005t0001g0132 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0137 a0001c0005t0001g0153 a0001c0005t0001g0181 a0001c0005t0001g0226 a0001c0005t0001g0247 a0001c0005t0002g0196 a0001c0005t0002g0221 a0001c0005t0004g0121 a0001c0005t0005g0108 a0001c0005t0005g0123 a0001c0005t0005g0124 a0001c0005t0005g0154 a0001c0020t0001g0174 a0001c0021t0003g0224 a0001c0022t0002g0169 a0001c0033t0001g0131 a0002c0002t0001g0003 a0002c0002t0001g0020 a0002c0002t0001g0022 a0002c0002t0001g0035 a0002c0002t0001g0160 a0002c0002t0001g0161 a0002c0002t0001g0163 a0002c0002t0001g0271 a0002c0002t0001g0284 a0002c0002t0001g0286 a0002c0002t0001g0287 a0002c0002t0001g0288 a0002c0002t0001g0289 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0001g0298 a0002c0002t0001g0300 a0002c0002t0001g0360 a0002c0002t0001g0361 a0002c0002t0001g0362 a0002c0002t0002g0040 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0305 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0314 a0002c0002t0002g0334 a0002c0002t0002g0337 a0002c0002t0002g0338 a0002c0002t0002g0339 a0002c0002t0002g0351 a0002c0002t0002g0352 a0002c0002t0003g0162 a0002c0002t0003g0335 a0002c0002t0003g0336 a0002c0002t0004g0015 a0002c0002t0004g0016 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0237 a0002c0002t0005g0021 a0002c0002t0005g0293 a0002c0002t0007g0043 a0002c0002t0008g0324 a0002c0002t0010g0046 a0002c0004t0001g0005 a0002c0004t0001g0007 a0002c0004t0001g0041 a0002c0004t0001g0051 a0002c0004t0001g0210 a0002c0004t0001g0258 a0002c0004t0001g0272 a0002c0004t0001g0275 a0002c0004t0001g0278 a0002c0004t0001g0301 a0002c0004t0001g0304 a0002c0004t0001g0313 a0002c0004t0001g0316 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0322 a0002c0004t0001g0323 a0002c0004t0001g0325 a0002c0004t0001g0326 a0002c0004t0001g0327 a0002c0004t0001g0328 a0002c0004t0001g0329 a0002c0004t0001g0330 a0002c0004t0001g0343 a0002c0004t0001g0346 a0002c0004t0001g0348 a0002c0004t0001g0350 a0002c0004t0001g0353 a0002c0004t0001g0358 a0002c0004t0001g0359 a0002c0004t0002g0229 a0002c0004t0002g0273 a0002c0004t0002g0276 a0002c0004t0002g0312 a0002c0004t0002g0315 a0002c0004t0002g0317 a0002c0004t0002g0333 a0002c0004t0002g0349 a0002c0004t0002g0354 a0002c0004t0003g0036 a0002c0004t0003g0038 a0002c0004t0003g0039 a0002c0004t0003g0257 a0002c0004t0003g0264 a0002c0004t0004g0331 a0002c0004t0004g0341 a0002c0004t0005g0037 a0002c0004t0005g0114 a0002c0004t0005g0238 a0002c0004t0014g0303 a0002c0011t0002g0096 a0002c0011t0002g0302 a0002c0011t0002g0332 a0002c0011t0002g0347 a0002c0013t0001g0279 a0002c0013t0001g0280 a0002c0013t0001g0281 a0002c0013t0001g0283 a0002c0019t0001g0282 a0002c0019t0001g0285 a0002c0029t0002g0307 a0002c0030t0002g0306 a0002c0031t0009g0045 a0003c0003t0001g0058 a0003c0003t0001g0067 a0003c0003t0001g0073 a0003c0003t0001g0099 a0003c0003t0001g0106 a0003c0003t0001g0344 a0003c0003t0002g0008 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0061 a0003c0003t0002g0062 a0003c0003t0002g0064 a0003c0003t0002g0065 a0003c0003t0002g0066 a0003c0003t0002g0070 a0003c0003t0002g0071 a0003c0003t0002g0072 a0003c0003t0002g0075 a0003c0003t0002g0076 a0003c0003t0002g0078 a0003c0003t0002g0080 a0003c0003t0002g0081 a0003c0003t0002g0082 a0003c0003t0002g0083 a0003c0003t0002g0084 a0003c0003t0002g0085 a0003c0003t0002g0087 a0003c0003t0002g0088 a0003c0003t0002g0089 a0003c0003t0002g0092 a0003c0003t0002g0093 a0003c0003t0002g0094 a0003c0003t0002g0095 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0002g0100 a0003c0003t0002g0101 a0003c0003t0002g0102 a0003c0003t0002g0103 a0003c0003t0002g0104 a0003c0003t0002g0107 a0003c0003t0002g0231 a0003c0003t0003g0063 a0003c0003t0003g0091 a0003c0003t0004g0074 a0003c0003t0006g0105 a0003c0003t0013g0086 a0003c0010t0001g0047 a0003c0010t0001g0048 a0003c0010t0001g0077 a0003c0010t0001g0079 a0003c0025t0004g0010 a0003c0026t0001g0011 a0004c0006t0001g0211 a0004c0006t0001g0255 a0004c0006t0001g0256 a0004c0006t0001g0260 a0004c0006t0001g0262 a0004c0006t0002g0212 a0004c0006t0002g0254 a0004c0006t0004g0249 a0004c0006t0004g0250 a0004c0006t0004g0266 a0004c0006t0006g0252 a0004c0006t0006g0253 a0004c0006t0006g0261 a0004c0007t0001g0213 a0004c0007t0001g0214 a0004c0007t0001g0216 a0004c0007t0001g0217 a0004c0007t0001g0228 a0004c0007t0001g0251 a0004c0007t0001g0265 a0004c0007t0002g0215 a0004c0007t0002g0248 a0004c0007t0002g0267 a0004c0037t0001g0274 a0005c0008t0001g0297 a0005c0008t0001g0299 a0005c0008t0001g0357 a0005c0008t0004g0004 a0005c0008t0004g0340 a0005c0014t0004g0006 a0005c0014t0004g0292 a0005c0014t0004g0295 a0006c0012t0001g0268 a0006c0012t0002g0151 a0006c0012t0002g0177 a0006c0012t0003g0270 a0006c0032t0005g0122 a0007c0009t0003g0230 a0007c0009t0003g0232 a0007c0009t0003g0234 a0007c0009t0003g0235 a0008c0015t0005g0026 a0008c0015t0006g0025 a0008c0015t0006g0027 a0009c0016t0007g0042 a0009c0016t0007g0044 a0010c0018t0005g0239 a0010c0018t0005g0241 a0011c0017t0002g0240 a0012c0024t0002g0068 a0013c0023t0003g0233 a0014c0028t0002g0308 a0015c0027t0002g0024 a0016c0034t0001g0150	316	368	0.8587	0	c.456 others(6): Show c.4562-8G>T		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	34/38					chr15	TogoVar
EIF2AK4_chr15_39929115_40040591	40035006	ATCTTT ATCTTT	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00609.hp2 HG01168.hp2 others(18): Show HG00609.hp1 HG00609.hp2 HG01168.hp2 HG02004.hp1 HG02027.hp1 HG02080.hp1 HG03669.hp1 NA18941.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18956.hp2 NA18962.hp1 NA18971.hp1 NA18977.hp2 NA18985.hp2 NA18990.hp1 NA19006.hp2 NA19007.hp2 NA19074.hp2 NA19086.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0001c0005 a0001c0033 others(2): Show a0001c0001 a0001c0005 a0001c0033 a0004c0006 a0006c0012	a0001c0001t0001 a0001c0001t0011 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0005t0001 a0001c0033t0001 a0004c0006t0001 a0006c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0116 others(17): Show a0001c0001t0001g0001 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0207 a0001c0001t0011g0164 a0001c0005t0001g0153 a0001c0033t0001g0131 a0004c0006t0001g0211 a0006c0012t0001g0268	21	368	0.0571	-5	c.489 others(18): Show c.4893-9_4893-5delCTTTT		EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	38/38				INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2A_chr3_150541787_150591016	150562658	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp1 HG00323.hp2 HG00408.hp1 others(137): Show HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02273.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG03017.hp2 HG03471.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19006.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19059.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19072.hp2 NA19075.hp1 NA19076.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0008 a0004c0007 a0002c0002 a0003c0008 a0004c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0009 a0002c0002t0011 a0002c0002t0021 a0003c0008t0001 a0004c0007t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 others(79): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0046 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0062 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0181 a0002c0002t0001g0216 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0220 a0002c0002t0001g0221 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0002g0007 a0002c0002t0009g0017 a0002c0002t0009g0087 a0002c0002t0011g0069 a0002c0002t0011g0075 a0002c0002t0011g0102 a0002c0002t0021g0001 a0003c0008t0001g0101 a0004c0007t0001g0085	140	394	0.3553	0	c.290 others(3): Show c.290C>G	p.Thr others(5): Show p.Thr97Ser	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding	4/14	306/3879	290/1758	97/585		chr3	TogoVar
EIF2A_chr3_150541787_150591016	150567774	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp2 NA18979.hp2 NA18994.hp2 NA18972.hp2 NA18979.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0092 a0002c0002t0001g0032 a0002c0002t0001g0092	3	394	0.0076	0	c.549 others(5): Show c.549+8C>G		EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding	7/13					chr3	TogoVar
EIF2A_chr3_150541787_150591016	150572527	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02451.hp2 HG02630.hp2 HG02809.hp1 others(2): Show HG02451.hp2 HG02630.hp2 HG02809.hp1 HG02896.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0014 a0001c0004t0003g0185 a0001c0004t0003g0014 a0001c0004t0003g0185	5	394	0.0127	0	c.138 others(4): Show c.1381T>C	p.Leu others(6): Show p.Leu461Leu	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding	10/14	1397/3879	1381/1758	461/585		chr3	TogoVar
EIF2B3_chr1_44845522_44991595	44874670	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01099.hp1 HG01261.hp2 HG01358.hp1 others(4): Show HG01099.hp1 HG01261.hp2 HG01358.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0165 others(4): Show a0001c0002t0001g0143 a0001c0002t0001g0149 a0001c0002t0001g0165 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0199 a0001c0002t0001g0213	7	322	0.0217	0	c.120 others(6): Show c.1202+8T>G		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	10/11					chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44978464	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01167.hp2 HG01884.hp2 HG02055.hp1 others(17): Show HG01167.hp2 HG01884.hp2 HG02055.hp1 HG02257.hp1 HG02486.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03471.hp2 NA19043.hp1 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 others(17): Show a0001c0002t0001g0230 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0005g0231	20	322	0.0621	0	c.149 others(5): Show c.149-4A>G		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	2/11					chr1	TogoVar
EIF2B4_chr2_27359352_27375338	27366943	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(108): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18950.hp1 NA18955.hp1 NA18966.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19043.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0002c0004 others(2): Show a0001c0001 a0001c0003 a0002c0004 a0004c0010 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0002c0004t0001 a0004c0010t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(34): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0003t0001g0107 a0001c0003t0001g0108 a0002c0004t0001g0026 a0004c0010t0001g0095 a0005c0007t0001g0051	111	378	0.2937	0	c.101 others(6): Show c.1014-7A>G		EIF2B4	ENSG00000115211.17	transcript	ENST00000347454.9	protein_coding	10/12					chr2	TogoVar
EIF2B4_chr2_27359352_27375338	27368138	T T	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0001 a0003c0012t0001	a0003c0012t0001g0097 a0003c0012t0001g0097	1	378	0.0027	0	c.592 others(3): Show c.592A>T	p.Ile others(6): Show p.Ile198Phe	EIF2B4	ENSG00000115211.17	transcript	ENST00000347454.9	protein_coding	7/13	616/1644	592/1572	198/523		chr2	TogoVar
EIF2B4_chr2_27359352_27375338	27369556	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(107): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18950.hp1 NA18955.hp1 NA18966.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA19000.hp1 NA19043.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0004 a0005c0007 a0001c0001 a0002c0004 a0005c0007	a0001c0001t0001 a0002c0004t0001 a0005c0007t0001 a0001c0001t0001 a0002c0004t0001 a0005c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0002c0004t0001g0026 a0005c0007t0001g0051	110	378	0.2910	0	c.76- others(4): Show c.76-7G>A		EIF2B4	ENSG00000115211.17	transcript	ENST00000347454.9	protein_coding	2/12					chr2	TogoVar
EIF2B5_chr3_184130358_184150311	184140738	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18972.hp2 NA18972.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0070 a0002c0002t0002g0070	1	426	0.0024	0	c.115 others(6): Show c.1156+8C>T		EIF2B5	ENSG00000145191.15	transcript	ENST00000648915.2	protein_coding	7/15					chr3	TogoVar
EIF2B5_chr3_184130358_184150311	184143049	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19079.hp2 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0069 a0002c0002t0002g0069	1	426	0.0024	0	c.165 others(6): Show c.1655-3C>T		EIF2B5	ENSG00000145191.15	transcript	ENST00000648915.2	protein_coding	11/15					chr3	TogoVar
EIF2D_chr1_206586642_206617465	206597095	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	426	0.0024	0	c.138 others(6): Show c.1388+5C>T		EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	12/14					chr1	TogoVar
EIF2D_chr1_206586642_206617465	206602461	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	426	0.0024	0	c.785 others(5): Show c.785-8C>G		EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding	6/14					chr1	TogoVar
EIF3A_chr10_119028670_119085817	119037314	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0046	1	350	0.0029	0	c.372 others(6): Show c.3729-5T>C		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	20/21					chr10	TogoVar
EIF3A_chr10_119028670_119085817	119069442	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	350	0.0029	0	c.950 others(5): Show c.950+4A>C		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	6/21					chr10	TogoVar
EIF3A_chr10_119028670_119085817	119073061	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02818.hp1 HG02922.hp2 HG02818.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0133 a0001c0001t0002g0108 a0001c0001t0002g0133	2	350	0.0057	0	c.378 others(5): Show c.378-8C>G		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	3/21					chr10	TogoVar
EIF3A_chr10_119028670_119085817	119073739	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG04228.hp2 HG02109.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0008 a0001c0001t0013g0214 a0001c0001t0013g0008 a0001c0001t0013g0214	2	350	0.0057	0	c.240 others(5): Show c.240+8C>T		EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	2/21					chr10	TogoVar
EIF3B_chr7_2349827_2385745	2364367	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02809.hp2 HG03516.hp1 HG02809.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0357 a0001c0001t0001g0358	2	384	0.0052	0	c.100 others(6): Show c.1000-5T>C		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	5/18					chr7	TogoVar
EIF3B_chr7_2349827_2385745	2366317	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0010 a0001c0016t0010	a0001c0016t0010g0355 a0001c0016t0010g0355	1	384	0.0026	0	c.115 others(4): Show c.1158G>A	p.Arg others(6): Show p.Arg386Arg	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	7/19	1253/3096	1158/2445	386/814		chr7	TogoVar
EIF3B_chr7_2349827_2385745	2378682	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0323 a0001c0003t0001g0323	1	384	0.0026	0	c.215 others(6): Show c.2155-7G>A		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	15/18					chr7	TogoVar
EIF3CL_chr16_28374715_28408841	28380286	C C	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02257.hp2 HG02258.hp2 HG02630.hp1 others(2): Show HG02257.hp2 HG02258.hp2 HG02630.hp1 HG02647.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(2): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122	5	172	0.0291	0	c.249 others(6): Show c.2499+6G>C		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	19/20					chr16	TogoVar
EIF3CL_chr16_28374715_28408841	28392150	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02109.hp1 HG02257.hp2 HG02258.hp1 others(7): Show HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02630.hp1 HG02647.hp2 HG03540.hp1 HG03927.hp1 NA18522.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0002 a0001c0001t0001 a0001c0012t0002	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(7): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0012t0002g0009	10	172	0.0581	0	c.777 others(5): Show c.777-8G>T		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	8/20					chr16	TogoVar
EIF3CL_chr16_28374715_28408841	28399998	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03579.hp2 HG03579.hp2	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0031 a0008c0010t0001g0031	1	172	0.0058	0	c.649 others(3): Show c.649G>A	p.Asp others(6): Show p.Asp217Asn	EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	8/21	734/2913	649/2745	217/914		chr16	TogoVar
EIF3D_chr22_36505855_36534166	36519398	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01168.hp2 HG01516.hp1 HG01884.hp2 others(10): Show HG01168.hp2 HG01516.hp1 HG01884.hp2 HG02055.hp2 HG02145.hp2 HG02451.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0001g0057 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0074 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0230	13	400	0.0325	0	c.711 others(5): Show c.711+7G>A		EIF3D	ENSG00000100353.18	transcript	ENST00000216190.13	protein_coding	8/14					chr22	TogoVar
EIF3D_chr22_36505855_36534166	36525714	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02572.hp1 HG02647.hp1 HG02717.hp1 others(2): Show HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0101 others(1): Show a0001c0001t0001g0030 a0001c0001t0001g0058 a0001c0001t0001g0101 a0001c0001t0001g0102	5	400	0.0125	0	c.124 others(5): Show c.124-5C>T		EIF3D	ENSG00000100353.18	transcript	ENST00000216190.13	protein_coding	2/14					chr22	TogoVar
EIF3G_chr19_10110014_10124899	10116078	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	1	458	0.0022	0	c.596 others(5): Show c.596-4C>T		EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding	7/10					chr19	TogoVar
EIF3I_chr1_32217407_32236604	32222530	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0124 a0001c0001t0002g0124	1	384	0.0026	0	c.4-8 others(3): Show c.4-8C>T		EIF3I	ENSG00000084623.12	transcript	ENST00000677711.2	protein_coding	1/10					chr1	TogoVar
EIF3I_chr1_32217407_32236604	32231027	A A	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(86): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp2 NA18612.hp1 NA18939.hp1 NA18947.hp1 NA18953.hp2 NA18955.hp1 NA18961.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18987.hp2 NA18989.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp2 NA19065.hp2 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0003 a0001c0001t0002 a0001c0001t0003 a0002c0002t0003	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(36): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0124 a0001c0001t0003g0032 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0002c0002t0003g0096	89	384	0.2318	0	c.896 others(5): Show c.896+8A>C		EIF3I	ENSG00000084623.12	transcript	ENST00000677711.2	protein_coding	10/10					chr1	TogoVar
EIF3J_chr15_44532147_44567803	44554674	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0231 a0002c0002t0002g0231	1	292	0.0034	0	c.409 others(5): Show c.409+7C>T		EIF3J	ENSG00000104131.13	transcript	ENST00000261868.10	protein_coding	5/7					chr15	TogoVar
EIF3K_chr19_38614188_38641954	38619335	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00733.hp2 HG00738.hp2 HG01099.hp2 others(32): Show HG00733.hp2 HG00738.hp2 HG01099.hp2 HG01123.hp1 HG01243.hp2 HG01515.hp2 HG01517.hp2 HG01943.hp2 HG01975.hp2 HG02004.hp1 HG02135.hp1 HG02293.hp2 HG02683.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp1 HG03710.hp1 HG04115.hp1 HG04199.hp2 NA18522.hp2 NA18939.hp1 NA18949.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18984.hp1 NA19010.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19074.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0049 others(24): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246	35	400	0.0875	0	c.59+ others(4): Show c.59+8C>T		EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	1/7					chr19	TogoVar
EIF3K_chr19_38614188_38641954	38620443	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	400	0.0025	0	c.158 others(5): Show c.158+8T>C		EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	2/7					chr19	TogoVar
EIF3K_chr19_38614188_38641954	38634989	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02004.hp1 HG02293.hp2 NA18966.hp2 others(1): Show HG02004.hp1 HG02293.hp2 NA18966.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0050 a0001c0001t0001g0224 a0001c0001t0001g0238	4	400	0.0100	0	c.500 others(5): Show c.500-4G>C		EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	6/7					chr19	TogoVar
EIF3L_chr22_37844419_37894407	37850070	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	318	0.0031	0	c.82+ others(4): Show c.82+7C>A		EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	2/12					chr22	TogoVar
EIF3M_chr11_32578831_32611264	32601755	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp2 HG00735.hp1 HG01256.hp2 others(10): Show HG00280.hp2 HG00735.hp1 HG01256.hp2 HG01258.hp2 HG01884.hp1 HG02723.hp2 HG02965.hp1 HG02976.hp1 HG03130.hp2 HG03491.hp1 HG03492.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 others(2): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0040	a0001c0001t0007g0010 a0001c0001t0007g0018 a0001c0001t0021g0053 others(3): Show a0001c0001t0007g0010 a0001c0001t0007g0018 a0001c0001t0021g0053 a0001c0001t0031g0056 a0001c0001t0032g0053 a0001c0001t0040g0151	13	344	0.0378	0	c.944 others(5): Show c.944-7T>C		EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding	9/10					chr11	TogoVar
EIF4A1_chr17_7567825_7584006	7574261	T T	C C	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0001 a0002c0006t0001g0001	1	436	0.0023	0	c.25T others(2): Show c.25T>C	p.Ser others(4): Show p.Ser9Pro	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding	2/11	42/1758	25/1221	9/406		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7578338	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0034 a0001c0003t0002g0034	1	436	0.0023	0	c.107 others(6): Show c.1077-4C>T		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding	10/10					chr17	TogoVar
EIF4A2_chr3_186778577_186794897	186786157	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18950.hp2 NA18954.hp2 NA18955.hp2 others(8): Show NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18965.hp2 NA18981.hp2 NA19007.hp1 NA19011.hp2 NA19075.hp2 NA19078.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	11	456	0.0241	0	c.518 others(5): Show c.518-7C>T		EIF4A2	ENSG00000156976.17	transcript	ENST00000323963.10	protein_coding	5/10					chr3	TogoVar
EIF4A2_chr3_186778577_186794897	186787124	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02155.hp2 HG02280.hp1 HG02698.hp2 others(20): Show HG02155.hp2 HG02280.hp1 HG02698.hp2 HG02738.hp1 HG03704.hp2 NA18612.hp2 NA18940.hp2 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18981.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA19005.hp2 NA19064.hp1 NA19065.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0009 a0001c0003t0001g0009 a0001c0002t0001g0009 a0001c0003t0001g0009	23	456	0.0504	0	c.772 others(5): Show c.772-3C>T		EIF4A2	ENSG00000156976.17	transcript	ENST00000323963.10	protein_coding	7/10					chr3	TogoVar
EIF4A3_chr17_80129369_80152128	80137379	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG01099.hp1 HG01099.hp2 others(16): Show HG00642.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01943.hp2 HG02300.hp2 HG02738.hp2 HG03239.hp1 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03942.hp2 HG04204.hp1 NA19030.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0019 a0001c0001t0044 a0001c0001t0047 a0001c0001t0049 a0001c0001t0060 a0001c0001t0071 a0001c0001t0072 a0001c0002t0007	a0001c0001t0001g0020 a0001c0001t0001g0179 a0001c0001t0003g0144 others(11): Show a0001c0001t0001g0020 a0001c0001t0001g0179 a0001c0001t0003g0144 a0001c0001t0003g0147 a0001c0001t0009g0199 a0001c0001t0009g0200 a0001c0001t0019g0024 a0001c0001t0044g0095 a0001c0001t0047g0098 a0001c0001t0049g0121 a0001c0001t0060g0188 a0001c0001t0071g0208 a0001c0001t0072g0209 a0001c0002t0007g0175	19	420	0.0452	0	c.983 others(5): Show c.983+7C>G		EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	9/11					chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80138142	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02451.hp1 HG03225.hp1 HG02451.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0031 a0001c0005t0002 a0001c0005t0031	a0001c0005t0002g0142 a0001c0005t0031g0141 a0001c0005t0002g0142 a0001c0005t0031g0141	2	420	0.0048	0	c.867 others(3): Show c.867G>A	p.Lys others(6): Show p.Lys289Lys	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	8/12	1034/2524	867/1236	289/411		chr17	TogoVar

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