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
EIF4A3_chr17_80129369_80152128	80139013	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	420	0.0024	0	c.728 others(5): Show c.728+8C>G		EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	7/11					chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80144168	T T	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18967.hp1 NA19004.hp1 NA19082.hp1 NA18967.hp1 NA19004.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0049 a0001c0001t0004g0109 a0001c0001t0002g0049 a0001c0001t0004g0109	3	420	0.0071	0	c.242 others(5): Show c.242+4A>C		EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	2/11					chr17	TogoVar
EIF4B_chr12_53001456_53047215	53034032	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0101 a0001c0007t0001g0101	1	372	0.0027	0	c.120 others(4): Show c.1206G>A	p.Glu others(6): Show p.Glu402Glu	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	9/15	1234/3856	1206/1836	402/611		chr12	TogoVar
EIF4B_chr12_53001456_53047215	53034042	G G	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02056.hp1 NA18940.hp1 NA18975.hp1 others(2): Show HG02056.hp1 NA18940.hp1 NA18975.hp1 NA18995.hp1 NA19064.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0305 a0001c0002t0003g0306 others(2): Show a0001c0002t0003g0271 a0001c0002t0003g0305 a0001c0002t0003g0306 a0001c0002t0003g0307 a0001c0002t0003g0308	5	372	0.0134	0	c.120 others(6): Show c.1208+8G>T		EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	9/14					chr12	TogoVar
EIF4B_chr12_53001456_53047215	53039625	TGCAGGAA others(27): Show TGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA19000.hp2 NA19000.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0152 a0004c0008t0001g0152	1	372	0.0027	-34	c.168 others(45): Show c.1683-4_1712delGCAGGAAAGATGGCAAAAAGGATCAAGACTCCAG	p.Lys others(13): Show p.Lys562_Arg571del	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	14/15		1683/1836	561/611		chr12	TogoVar
EIF4B_chr12_53001456_53047215	53039702	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(264): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0002c0004 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0006t0001 a0001c0007t0001 a0002c0004t0001 a0002c0004t0010 a0004c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(260): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0269 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0013 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0034 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0006g0016 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0036 a0001c0001t0006g0037 a0001c0001t0006g0245 a0001c0001t0006g0246 a0001c0001t0008g0031 a0001c0001t0008g0035 a0001c0001t0008g0181 a0001c0001t0008g0183 a0001c0001t0008g0199 a0001c0001t0010g0144 a0001c0001t0010g0150 a0001c0001t0014g0014 a0001c0001t0014g0071 a0001c0001t0016g0092 a0001c0001t0017g0079 a0001c0001t0021g0025 a0001c0001t0022g0263 a0001c0001t0023g0159 a0001c0001t0024g0228 a0001c0001t0027g0184 a0001c0001t0028g0224 a0001c0001t0029g0196 a0001c0006t0001g0125 a0001c0006t0001g0153 a0001c0007t0001g0101 a0002c0004t0001g0052 a0002c0004t0001g0103 a0002c0004t0001g0105 a0002c0004t0001g0117 a0002c0004t0010g0050 a0004c0008t0001g0152	267	372	0.7177	0	c.175 others(4): Show c.1755C>T	p.Ser others(6): Show p.Ser585Ser	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	14/15	1783/3856	1755/1836	585/611		chr12	TogoVar
EIF4E1B_chr5_176625675_176651644	176642168	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00438.hp1 HG02523.hp2 NA19058.hp1 HG00438.hp1 HG02523.hp2 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129 a0003c0003t0001g0127 a0003c0003t0001g0128 a0003c0003t0001g0129	3	422	0.0071	0	c.-79 others(5): Show c.-79+3G>A		EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding	2/8					chr5	TogoVar
EIF4E1B_chr5_176625675_176651644	176642171	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02622.hp2 HG02896.hp1 HG02970.hp2 others(1): Show HG02622.hp2 HG02896.hp1 HG02970.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0242 a0001c0001t0003g0253 a0001c0001t0003g0052 a0001c0001t0003g0242 a0001c0001t0003g0253	4	422	0.0095	0	c.-79 others(5): Show c.-79+6G>A		EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding	2/8					chr5	TogoVar
EIF4E1B_chr5_176625675_176651644	176643737	G G	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	422	0.0024	0	c.296 others(5): Show c.296+3G>C		EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding	5/8					chr5	TogoVar
EIF4E3_chr3_71670414_71730402	71693876	T T	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0342 a0001c0003t0001g0342	1	398	0.0025	0	c.471 others(3): Show c.471A>G	p.Ala others(6): Show p.Ala157Ala	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	5/7	506/9978	471/675	157/224		chr3	TogoVar
EIF4EBP1_chr8_38025534_38065365	38060364	G G	T T	splice_region_variant splice_region_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	344	0.0029	0	c.42 others(4): Show c.429G>T		EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	3/3					chr8	TogoVar
EIF4EBP1_chr8_38025534_38065365	38060365	A A	G G	splice_region_variant splice_region_variant	LOW	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	344	0.0029	0	c.43 others(4): Show c.430A>G		EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	3/3					chr8	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31448237	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02602.hp2 HG03239.hp2 HG02602.hp2 HG03239.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0020 a0001c0003t0001g0319 a0001c0003t0001g0020 a0001c0003t0001g0319	2	366	0.0055	0	c.176 others(6): Show c.1769-5G>A		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	12/18					chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31454137	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	366	0.0027	0	c.151 others(6): Show c.1512+7A>G		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18					chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31471917	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0098 a0006c0008t0001g0098	1	366	0.0027	0	c.97G others(2): Show c.97G>A	p.Glu others(5): Show p.Glu33Lys	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	3/19	273/3647	97/2958	33/985		chr22	TogoVar
EIF4G1_chr3_184309606_184340353	184322818	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	384	0.0026	0	c.179 others(6): Show c.1796-3C>T		EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	12/32					chr3	TogoVar
EIF4G1_chr3_184309606_184340353	184325848	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02559.hp1 HG02717.hp1 HG02896.hp1 others(1): Show HG02559.hp1 HG02717.hp1 HG02896.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	4	384	0.0104	0	c.312 others(6): Show c.3122-3C>T		EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	20/32					chr3	TogoVar
EIF4G1_chr3_184309606_184340353	184327587	G G	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18973.hp2 NA18973.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0001 a0002c0015t0001g0001	1	384	0.0026	0	c.366 others(4): Show c.3663G>C	p.Val others(7): Show p.Val1221Val	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	25/33	3823/5405	3663/4800	1221/1599		chr3	TogoVar
EIF4G1_chr3_184309606_184340353	184331611	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03195.hp1 HG03540.hp1 NA18522.hp1 HG03195.hp1 HG03540.hp1 NA18522.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0069 a0001c0001t0001g0179 a0011c0017t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0179 a0011c0017t0001g0068	3	384	0.0078	0	c.439 others(6): Show c.4395+5G>A		EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	30/32					chr3	TogoVar
EIF4G2_chr11_10792054_10813926	10799116	T T	TA TA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(189): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0007t0001 a0001c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0002g0025 a0001c0001t0004g0042 a0001c0002t0001g0011 a0001c0002t0001g0032 a0001c0007t0001g0067 a0001c0008t0001g0063	192	412	0.4660	1	c.253 others(7): Show c.2537-4dupT		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	20/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4G2_chr11_10792054_10813926	10799116	T T	TAA TAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02135.hp2 HG02258.hp2 HG02922.hp2 others(3): Show HG02135.hp2 HG02258.hp2 HG02922.hp2 NA18945.hp2 NA18950.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0069 a0001c0001t0001g0021 a0001c0001t0001g0035 a0001c0001t0001g0069	6	412	0.0146	2	c.253 others(15): Show c.2537-5_2537-4dupTT		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	20/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4G2_chr11_10792054_10813926	10799116	TA TA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00642.hp1 HG01891.hp2 HG02280.hp2 others(15): Show HG00642.hp1 HG01891.hp2 HG02280.hp2 HG02486.hp1 HG02922.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03669.hp1 HG03834.hp1 HG04184.hp2 NA18906.hp1 NA18956.hp1 NA18960.hp2 NA18968.hp2 NA19030.hp2 NA20752.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0008 a0001c0001t0001 a0001c0002t0001 a0001c0006t0008	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0047 others(6): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0047 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0078 a0001c0002t0001g0024 a0001c0006t0008g0085	18	412	0.0437	-1	c.253 others(7): Show c.2537-4delT		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	20/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4G2_chr11_10792054_10813926	10799116	TAA TAA	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(144): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp2 HG00741.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp1 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA18522.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18965.hp1 NA18966.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp2 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19072.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(21): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0003g0029 a0001c0001t0005g0057 a0001c0001t0006g0054 a0001c0004t0001g0051	147	412	0.3568	-2	c.253 others(15): Show c.2537-5_2537-4delTT		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	20/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4G2_chr11_10792054_10813926	10799430	CAG CAG	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01106.hp2 HG01167.hp2 HG01169.hp2 others(2): Show HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01433.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0061 a0001c0001t0001g0015 a0001c0001t0001g0061	5	412	0.0121	-2	c.232 others(15): Show c.2325-8_2325-7delCT		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	19/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4G2_chr11_10792054_10813926	10800655	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(188): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03017.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(26): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0002g0025 a0001c0001t0004g0042 a0001c0001t0007g0084	191	412	0.4636	0	c.164 others(6): Show c.1645-8C>T		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	16/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4G2_chr11_10792054_10813926	10806814	C C	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(186): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02293.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02886.hp2 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19074.hp1 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0002g0025 a0001c0001t0004g0042 a0001c0001t0007g0084	189	412	0.4587	0	c.107 others(5): Show c.107+6G>T		EIF4G2	ENSG00000110321.19	transcript	ENST00000339995.11	protein_coding	3/21				WARNING_TRANSCRIPT_NO_START_CODON	chr11	TogoVar
EIF4H_chr7_74169356_74202096	74195161	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0261 a0001c0001t0016g0261	1	374	0.0027	0	c.608 others(5): Show c.608-8T>C		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	6/6					chr7	TogoVar
EIF5AL1_chr10_79507533_79521440	79516438	A A	G G	splice_region_variant splice_region_variant	LOW	HG01361.hp1 HG03239.hp1 HG01361.hp1 HG03239.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0027 a0003c0003t0027	a0003c0003t0027g0000 a0003c0003t0027g0000	2	430	0.0047	0	c.33 others(5): Show c.3324A>G		EIF5AL1	ENSG00000253626.4	transcript	ENST00000520547.4	protein_coding	1/1					chr10	TogoVar
EIF5A_chr17_7302628_7317463	7311823	G G	A A	splice_region_variant splice_region_variant	LOW	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(68): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02155.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 NA18959.hp1 NA18962.hp1 NA18966.hp2 NA18967.hp1 NA18979.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19055.hp1 NA19058.hp2 NA19074.hp1 NA19081.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018	a0001c0001t0005g0004 a0001c0001t0005g0016 a0001c0001t0005g0033 others(13): Show a0001c0001t0005g0004 a0001c0001t0005g0016 a0001c0001t0005g0033 a0001c0001t0005g0035 a0001c0001t0005g0046 a0001c0001t0005g0049 a0001c0001t0009g0004 a0001c0001t0009g0023 a0001c0001t0009g0054 a0001c0001t0011g0004 a0001c0001t0011g0038 a0001c0001t0012g0004 a0001c0001t0013g0004 a0001c0001t0016g0004 a0001c0001t0017g0034 a0001c0001t0018g0004	71	424	0.1675	0	c.13 others(3): Show c.13G>A		EIF5A	ENSG00000132507.18	transcript	ENST00000336458.13	protein_coding	6/6					chr17	TogoVar
EIF5B_chr2_99332389_99406326	99382232	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0305 a0001c0003t0002g0305	1	342	0.0029	0	c.212 others(6): Show c.2129+6A>T		EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding	13/23					chr2	TogoVar
EIF5_chr14_103329237_103350025	103339164	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02630.hp1 HG03041.hp2 HG03516.hp2 HG02630.hp1 HG03041.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	3	438	0.0069	0	c.745 others(5): Show c.745-8C>T		EIF5	ENSG00000100664.11	transcript	ENST00000216554.8	protein_coding	8/11					chr14	TogoVar
EIF5_chr14_103329237_103350025	103340429	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0005 a0001c0006t0006g0005	1	438	0.0023	0	c.107 others(4): Show c.1074C>T	p.Ala others(6): Show p.Ala358Ala	EIF5	ENSG00000100664.11	transcript	ENST00000216554.8	protein_coding	11/12	1515/5710	1074/1296	358/431		chr14	TogoVar
EIF5_chr14_103329237_103350025	103340569	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	438	0.0023	0	c.120 others(6): Show c.1206+8T>C		EIF5	ENSG00000100664.11	transcript	ENST00000216554.8	protein_coding	11/11					chr14	TogoVar
EIF6_chr20_35273918_35289772	35280121	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00280.hp1 HG00423.hp1 others(108): Show HG00099.hp2 HG00280.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18964.hp2 NA18972.hp1 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19054.hp2 NA19055.hp1 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19077.hp1 NA19079.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0027 others(26): Show a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0005g0074 a0001c0001t0006g0066 a0001c0001t0008g0060	111	386	0.2876	0	c.370 others(5): Show c.370-3C>T		EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding	4/6					chr20	TogoVar
EIPR1_chr2_3183970_3382818	3188970	T T	C C	splice_region_variant splice_region_variant	LOW	HG02258.hp1 HG06807.hp2 NA19030.hp1 HG02258.hp1 HG06807.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184	3	250	0.0120	0	c.36 others(4): Show c.364A>G		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	9/9					chr2	TogoVar
ELAC1_chr18_50963040_50993121	50974390	G G	A A	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	384	0.0026	0	c.-8- others(4): Show c.-8-7G>A		ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	1/3					chr18	TogoVar
ELAC2_chr17_12986612_13023027	13000273	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0108 a0009c0014t0001g0108	1	400	0.0025	0	c.130 others(4): Show c.1306G>A	p.Asp others(6): Show p.Asp436Asn	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	15/24	1386/3767	1306/2481	436/826		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13000281	G G	GGAGA GGAGA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00408.hp1 HG00438.hp1 HG00673.hp2 others(24): Show HG00408.hp1 HG00438.hp1 HG00673.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG03834.hp2 HG03942.hp2 HG04228.hp1 NA18939.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19011.hp2 NA19064.hp2 NA19080.hp2 NA19084.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0017 a0001c0001 a0007c0017	a0001c0001t0004 a0001c0001t0020 a0001c0001t0027 others(1): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0027 a0007c0017t0004	a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0026 others(14): Show a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0026 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0224 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0020g0250 a0001c0001t0020g0259 a0001c0001t0027g0253 a0007c0017t0004g0260	27	400	0.0675	4	c.130 others(17): Show c.1305-8_1305-7insTCTC		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	14/23					chr17	TogoVar
ELAC2_chr17_12986612_13023027	13000282	A A	G G	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(120): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA18991.hp2 NA18994.hp2 NA19000.hp1 NA19011.hp2 NA19064.hp2 NA19080.hp2 NA19084.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0003 others(6): Show a0001c0001 a0002c0002 a0002c0003 a0002c0007 a0002c0008 a0002c0019 a0003c0006 a0004c0012 a0007c0017	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(25): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0037 a0002c0002t0005 a0002c0002t0006 a0002c0002t0021 a0002c0002t0025 a0002c0002t0028 a0002c0002t0029 a0002c0002t0030 a0002c0002t0031 a0002c0003t0007 a0002c0007t0017 a0002c0007t0038 a0002c0007t0039 a0002c0008t0012 a0002c0019t0034 a0003c0006t0006 a0004c0012t0022 a0007c0017t0004	a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0004g0016 others(81): Show a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0026 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0224 a0001c0001t0004g0251 a0001c0001t0004g0252 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0011g0024 a0001c0001t0011g0215 a0001c0001t0011g0218 a0001c0001t0011g0219 a0001c0001t0011g0221 a0001c0001t0014g0113 a0001c0001t0014g0114 a0001c0001t0014g0115 a0001c0001t0014g0116 a0001c0001t0016g0054 a0001c0001t0016g0248 a0001c0001t0018g0027 a0001c0001t0019g0055 a0001c0001t0020g0250 a0001c0001t0020g0259 a0001c0001t0027g0253 a0001c0001t0033g0181 a0001c0001t0037g0222 a0002c0002t0005g0005 a0002c0002t0005g0035 a0002c0002t0005g0071 a0002c0002t0005g0090 a0002c0002t0005g0091 a0002c0002t0005g0096 a0002c0002t0005g0097 a0002c0002t0005g0098 a0002c0002t0005g0099 a0002c0002t0005g0100 a0002c0002t0005g0101 a0002c0002t0005g0102 a0002c0002t0005g0103 a0002c0002t0005g0104 a0002c0002t0005g0105 a0002c0002t0006g0009 a0002c0002t0006g0018 a0002c0002t0006g0033 a0002c0002t0006g0078 a0002c0002t0006g0083 a0002c0002t0006g0085 a0002c0002t0006g0086 a0002c0002t0006g0261 a0002c0002t0021g0081 a0002c0002t0021g0112 a0002c0002t0025g0060 a0002c0002t0028g0092 a0002c0002t0029g0087 a0002c0002t0030g0077 a0002c0002t0031g0171 a0002c0003t0007g0008 a0002c0003t0007g0030 a0002c0003t0007g0031 a0002c0003t0007g0072 a0002c0003t0007g0074 a0002c0003t0007g0075 a0002c0003t0007g0076 a0002c0007t0017g0032 a0002c0007t0017g0080 a0002c0007t0038g0082 a0002c0007t0039g0084 a0002c0008t0012g0034 a0002c0008t0012g0079 a0002c0008t0012g0093 a0002c0008t0012g0094 a0002c0019t0034g0095 a0003c0006t0006g0010 a0003c0006t0006g0088 a0003c0006t0006g0089 a0004c0012t0022g0059 a0007c0017t0004g0260	123	400	0.3075	0	c.130 others(6): Show c.1305-8T>C		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	14/23					chr17	TogoVar
ELAC2_chr17_12986612_13023027	13015836	A A	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	400	0.0025	0	c.368 others(5): Show c.368-4T>A		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	3/23					chr17	TogoVar
ELAC2_chr17_12986612_13023027	13017066	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0071 a0002c0002t0005g0071	1	400	0.0025	0	c.296 others(5): Show c.296+5G>A		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding	2/23					chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109172013	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0019 a0001c0040t0019	a0001c0040t0019g0170 a0001c0040t0019g0170	1	230	0.0044	0	c.615 others(3): Show c.615C>T	p.Phe others(6): Show p.Phe205Phe	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	4/22	684/6880	615/3042	205/1013		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109191475	C C	T T	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0197 a0001c0002t0002g0197	1	230	0.0044	0	c.154 others(6): Show c.1545+4C>T		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	12/21					chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109192882	T T	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(138): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0006 others(2): Show a0001 a0004 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0013 others(14): Show a0001c0001 a0001c0002 a0001c0013 a0001c0019 a0001c0022 a0001c0024 a0001c0025 a0001c0032 a0001c0035 a0001c0038 a0001c0039 a0001c0040 a0004c0008 a0004c0011 a0006c0033 a0007c0036 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0015 a0001c0002t0035 a0001c0002t0038 a0001c0013t0001 a0001c0013t0031 a0001c0019t0003 a0001c0022t0005 a0001c0024t0001 a0001c0025t0037 a0001c0032t0005 a0001c0035t0010 a0001c0038t0015 a0001c0039t0005 a0001c0040t0019 a0004c0008t0009 a0004c0008t0041 a0004c0011t0004 a0004c0011t0009 a0004c0011t0040 a0006c0033t0014 a0007c0036t0003 a0008c0023t0034	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 others(138): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0001g0073 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0229 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0005g0013 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0001t0013g0103 a0001c0001t0014g0203 a0001c0001t0019g0019 a0001c0001t0020g0117 a0001c0001t0020g0128 a0001c0001t0021g0099 a0001c0001t0021g0107 a0001c0001t0036g0063 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0152 a0001c0002t0001g0158 a0001c0002t0001g0176 a0001c0002t0001g0181 a0001c0002t0001g0195 a0001c0002t0001g0199 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0183 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0139 a0001c0002t0003g0145 a0001c0002t0003g0153 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0182 a0001c0002t0003g0196 a0001c0002t0003g0201 a0001c0002t0005g0149 a0001c0002t0005g0164 a0001c0002t0005g0177 a0001c0002t0005g0185 a0001c0002t0005g0190 a0001c0002t0005g0227 a0001c0002t0010g0211 a0001c0002t0013g0219 a0001c0002t0014g0159 a0001c0002t0015g0218 a0001c0002t0035g0161 a0001c0002t0038g0144 a0001c0013t0001g0105 a0001c0013t0001g0106 a0001c0013t0031g0069 a0001c0019t0003g0136 a0001c0019t0003g0179 a0001c0022t0005g0132 a0001c0024t0001g0096 a0001c0025t0037g0102 a0001c0032t0005g0184 a0001c0035t0010g0198 a0001c0038t0015g0214 a0001c0039t0005g0169 a0001c0040t0019g0170 a0004c0008t0009g0065 a0004c0008t0009g0125 a0004c0008t0009g0126 a0004c0008t0009g0129 a0004c0008t0041g0059 a0004c0011t0004g0180 a0004c0011t0004g0187 a0004c0011t0009g0163 a0004c0011t0040g0173 a0006c0033t0014g0200 a0007c0036t0003g0162 a0008c0023t0034g0054	141	230	0.6130	0	c.194 others(6): Show c.1947+8T>C		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	14/21					chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109206779	C C	T T	splice_region_variant splice_region_variant	LOW	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0063 a0001c0001t0036g0063	1	230	0.0044	0	c.37 others(5): Show c.3767C>T		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	22/22					chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86925656	T T	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03098.hp1 HG03098.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0177 a0005c0011t0001g0177	1	196	0.0051	0	c.127 others(4): Show c.1271A>C	p.Glu others(6): Show p.Glu424Ala	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	10/22	1412/6796	1271/3090	424/1029		chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86926920	C C	CA CA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00621.hp2 HG00639.hp1 HG00639.hp2 others(45): Show HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00741.hp2 HG01071.hp2 HG01255.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG02015.hp2 HG02040.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18944.hp2 NA18955.hp1 NA18981.hp2 NA18999.hp2 NA19090.hp2 NA20805.hp1 NA20805.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0002c0002t0001 a0004c0006t0001	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 others(45): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0144 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0173 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0075 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0102 a0001c0001t0002g0151 a0001c0001t0002g0156 a0001c0001t0004g0119 a0001c0001t0006g0034 a0001c0003t0001g0011 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0004g0087 a0001c0003t0004g0090 a0001c0003t0004g0094 a0001c0003t0004g0137 a0001c0003t0007g0154 a0001c0003t0007g0182 a0002c0002t0001g0159 a0002c0002t0001g0187 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0196	48	196	0.2449	1	c.109 others(7): Show c.1090-5dupT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	8/21					chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86926920	C C	CAA CAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG01081.hp2 HG02258.hp1 HG02559.hp2 others(7): Show HG01081.hp2 HG02258.hp1 HG02559.hp2 HG02717.hp2 HG02970.hp1 HG04204.hp1 NA18943.hp1 NA19030.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0004 a0001c0003t0011 a0001c0004t0003	a0001c0001t0001g0056 a0001c0001t0003g0018 a0001c0003t0004g0131 others(7): Show a0001c0001t0001g0056 a0001c0001t0003g0018 a0001c0003t0004g0131 a0001c0003t0011g0100 a0001c0004t0003g0025 a0001c0004t0003g0026 a0001c0004t0003g0028 a0001c0004t0003g0029 a0001c0004t0003g0030 a0001c0004t0003g0185	10	196	0.0510	2	c.109 others(15): Show c.1090-6_1090-5dupTT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	8/21					chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86926920	C C	CAAA CAAA	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00609.hp1 HG00738.hp2 HG02109.hp1 others(6): Show HG00609.hp1 HG00738.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02486.hp2 HG02559.hp1 HG02723.hp2 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0005 a0001c0001 a0001c0004 a0003c0005	a0001c0001t0003 a0001c0001t0010 a0001c0004t0003 others(2): Show a0001c0001t0003 a0001c0001t0010 a0001c0004t0003 a0003c0005t0001 a0003c0005t0015	a0001c0001t0003g0178 a0001c0001t0010g0108 a0001c0004t0003g0074 others(6): Show a0001c0001t0003g0178 a0001c0001t0010g0108 a0001c0004t0003g0074 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0136 a0003c0005t0015g0085	9	196	0.0459	3	c.109 others(16): Show c.1090-7_1090-5dupTTT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	8/21					chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86926920	CA CA	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG00423.hp2 HG00597.hp1 HG00673.hp1 others(25): Show HG00423.hp2 HG00597.hp1 HG00673.hp1 HG01168.hp2 HG01257.hp2 HG01928.hp2 HG01993.hp1 HG02132.hp1 HG03453.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp2 NA18977.hp2 NA18991.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp1 NA19002.hp2 NA19060.hp2 NA19066.hp1 NA19074.hp1 NA19081.hp2 NA19084.hp2 NA19088.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0003t0004 a0001c0001t0001 a0001c0001t0009 a0001c0003t0004	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 others(25): Show a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0009g0063 a0001c0003t0004g0006	28	196	0.1429	-1	c.109 others(7): Show c.1090-5delT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	8/21					chr7	TogoVar

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