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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⚠️ 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	distance	status	chr	external
EHBP1L1_chr11_65571053_65597650	65574282	ACCCCCTC others(2): Show ACCCCCTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00609.hp2 others(45): Show HG00408.hp1 HG00558.hp1 HG00609.hp2 HG01081.hp2 HG01175.hp1 HG01884.hp2 HG01943.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02109.hp2 HG02135.hp2 HG02280.hp1 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03471.hp2 HG03486.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp1 NA18940.hp1 NA18942.hp2 NA18972.hp1 NA18977.hp2 NA18992.hp2 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19067.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0012 a0018	a0001c0002 a0001c0003 a0001c0010 others(7): Show a0001c0002 a0001c0003 a0001c0010 a0002c0001 a0002c0006 a0003c0025 a0004c0004 a0006c0011 a0012c0016 a0018c0018	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(9): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0010t0002 a0002c0001t0001 a0002c0006t0001 a0003c0025t0002 a0004c0004t0002 a0006c0011t0001 a0012c0016t0002 a0018c0018t0001	a0001c0002t0002g0022 a0001c0002t0002g0137 a0001c0003t0001g0075 others(23): Show a0001c0002t0002g0022 a0001c0002t0002g0137 a0001c0003t0001g0075 a0001c0003t0002g0138 a0001c0003t0004g0053 a0001c0010t0002g0019 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0008 a0002c0001t0001g0026 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0059 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0001t0001g0134 a0002c0001t0001g0139 a0002c0001t0001g0141 a0002c0006t0001g0008 a0003c0025t0002g0046 a0004c0004t0002g0140 a0006c0011t0001g0004 a0012c0016t0002g0046 a0018c0018t0001g0004	48	412	0.1165	-9	c.-20 others(20): Show c.-2020_-2012delCCCCCTCCC		EHBP1L1	ENSG00000173442.13	transcript	ENST00000309295.9	protein_coding					1770		chr11	TogoVar
EHD2_chr19_47708422_47748134	47724981	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp1 HG00738.hp1 others(79): Show HG00558.hp2 HG00642.hp1 HG00738.hp1 HG01070.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp1 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18957.hp2 NA18960.hp1 NA18970.hp2 NA18975.hp1 NA18978.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA19004.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19064.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0002c0007 a0002c0009	a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 others(14): Show a0001c0001t0001 a0001c0001t0013 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0008 a0001c0003t0002 a0001c0005t0002 a0001c0011t0001 a0001c0012t0003 a0001c0013t0001 a0001c0014t0008 a0002c0007t0003 a0002c0007t0006 a0002c0007t0007 a0002c0009t0001	a0001c0001t0001g0231 a0001c0001t0001g0302 a0001c0001t0001g0348 others(78): Show a0001c0001t0001g0231 a0001c0001t0001g0302 a0001c0001t0001g0348 a0001c0001t0001g0385 a0001c0001t0013g0069 a0001c0002t0002g0001 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0043 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0081 a0001c0002t0002g0117 a0001c0002t0002g0123 a0001c0002t0002g0135 a0001c0002t0002g0140 a0001c0002t0002g0159 a0001c0002t0002g0192 a0001c0002t0002g0193 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0201 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0230 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0002t0002g0239 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0251 a0001c0002t0002g0257 a0001c0002t0002g0261 a0001c0002t0002g0266 a0001c0002t0002g0272 a0001c0002t0002g0275 a0001c0002t0002g0319 a0001c0002t0002g0334 a0001c0002t0002g0336 a0001c0002t0002g0392 a0001c0002t0002g0393 a0001c0002t0003g0018 a0001c0002t0003g0028 a0001c0002t0003g0029 a0001c0002t0003g0067 a0001c0002t0003g0285 a0001c0002t0003g0300 a0001c0002t0003g0307 a0001c0002t0003g0321 a0001c0002t0003g0349 a0001c0002t0003g0353 a0001c0002t0003g0354 a0001c0002t0004g0036 a0001c0002t0004g0061 a0001c0002t0004g0144 a0001c0002t0004g0145 a0001c0002t0004g0278 a0001c0002t0004g0352 a0001c0002t0006g0024 a0001c0002t0006g0303 a0001c0002t0006g0304 a0001c0002t0008g0283 a0001c0003t0002g0037 a0001c0003t0002g0316 a0001c0003t0002g0367 a0001c0005t0002g0130 a0001c0005t0002g0184 a0001c0011t0001g0207 a0001c0012t0003g0347 a0001c0013t0001g0012 a0001c0014t0008g0284 a0001c0014t0008g0286 a0002c0007t0003g0030 a0002c0007t0006g0032 a0002c0007t0006g0035 a0002c0007t0007g0295 a0002c0009t0001g0033	82	398	0.2060	-9	c.503 others(24): Show c.503-801_503-793delAAAAAAAAA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31245549	ATATATTT others(2): Show ATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02257.hp2 others(10): Show HG01516.hp1 HG01517.hp1 HG02257.hp2 HG02622.hp1 HG02738.hp2 HG02922.hp1 HG03195.hp2 HG03209.hp2 HG04199.hp2 NA18945.hp1 NA18971.hp1 NA18971.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0001t0014 a0001c0001t0032	a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0083 others(8): Show a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0081 a0001c0001t0010g0160 a0001c0001t0014g0027 a0001c0001t0014g0244 a0001c0001t0014g0245 a0001c0001t0032g0314	13	378	0.0344	-9	c.404 others(26): Show c.404+1101_404+1109delATATTTTTT		EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHHADH_chr3_185185624_185259049	185213903	GAAAGAGA others(2): Show GAAAGAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp2 HG01109.hp2 others(31): Show HG01074.hp1 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0017	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0002c0021 a0004c0006 a0006c0007 a0017c0020	a0001c0001t0003 a0002c0002t0007 a0002c0004t0003 others(6): Show a0001c0001t0003 a0002c0002t0007 a0002c0004t0003 a0002c0004t0005 a0002c0004t0006 a0002c0021t0003 a0004c0006t0001 a0006c0007t0003 a0017c0020t0003	a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 others(31): Show a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0002c0002t0007g0294 a0002c0004t0003g0148 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0287 a0002c0004t0003g0288 a0002c0004t0003g0289 a0002c0004t0003g0290 a0002c0004t0003g0296 a0002c0004t0003g0299 a0002c0004t0003g0304 a0002c0004t0003g0305 a0002c0004t0003g0306 a0002c0004t0003g0308 a0002c0004t0003g0309 a0002c0004t0003g0311 a0002c0004t0005g0137 a0002c0004t0005g0295 a0002c0004t0005g0297 a0002c0004t0005g0298 a0002c0004t0005g0310 a0002c0004t0006g0301 a0002c0004t0006g0307 a0002c0021t0003g0300 a0004c0006t0001g0302 a0004c0006t0001g0303 a0006c0007t0003g0283 a0006c0007t0003g0284 a0006c0007t0003g0285 a0006c0007t0003g0286 a0017c0020t0003g0145	34	348	0.0977	-9	c.568 others(26): Show c.568+4224_568+4232delTTTCTCTTT		EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6						chr3	TogoVar
EHMT1_chr9_137614005_137841127	137634868	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp2 HG02809.hp2 others(2): Show HG02109.hp1 HG02486.hp2 HG02809.hp2 HG02922.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0020 a0001c0006 a0001c0008 a0001c0020	a0001c0006t0001 a0001c0008t0001 a0001c0020t0003 a0001c0006t0001 a0001c0008t0001 a0001c0020t0003	a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 others(2): Show a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0008t0001g0150 a0001c0020t0003g0149	5	170	0.0294	-9	c.21+ others(26): Show c.21+15836_21+15844delTTTTTTTTT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137768529	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01192.hp2 HG01361.hp1 others(4): Show HG00642.hp1 HG01192.hp2 HG01361.hp1 HG02630.hp2 HG02738.hp1 NA18947.hp2 NA19080.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0018 a0001c0002 a0001c0005 a0001c0018	a0001c0002t0001 a0001c0005t0001 a0001c0018t0001 a0001c0002t0001 a0001c0005t0001 a0001c0018t0001	a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0005t0001g0072 others(4): Show a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0005t0001g0072 a0001c0005t0001g0073 a0001c0005t0001g0116 a0001c0005t0001g0117 a0001c0018t0001g0062	7	170	0.0412	-9	c.164 others(28): Show c.1647+5739_1647+5747delTTTTTTTTT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	10/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780831	CCGAGACG others(2): Show CCGAGACGTG	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02809.hp2 HG01361.hp1 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0001 a0001c0008t0001 a0001c0005t0001 a0001c0008t0001	a0001c0005t0001g0072 a0001c0008t0001g0150 a0001c0005t0001g0072 a0001c0008t0001g0150	2	170	0.0118	-9	c.227 others(28): Show c.2275+1115_2275+1123delCGAGACGTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26						chr9	TogoVar
EI24_chr11_125564477_125589684	125584229	CAAAAAAA others(2): Show CAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00609.hp1 HG00642.hp2 others(31): Show HG00323.hp2 HG00609.hp1 HG00642.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01515.hp1 HG01993.hp1 HG01993.hp2 HG02083.hp1 HG02273.hp1 HG02683.hp2 HG02735.hp2 HG03225.hp2 HG03491.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp2 NA18941.hp2 NA18956.hp1 NA18957.hp2 NA18964.hp2 NA18979.hp1 NA18980.hp2 NA18997.hp2 NA19003.hp2 NA19004.hp1 NA19057.hp2 NA19058.hp1 NA19075.hp1 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0007 others(8): Show a0001c0001t0004g0001 a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0013 a0001c0001t0004g0022 a0001c0001t0004g0040 a0001c0001t0004g0107 a0001c0001t0004g0136 a0001c0001t0004g0140 a0001c0001t0004g0156 a0001c0001t0004g0161	34	362	0.0939	-9	c.57 others(18): Show c.571_*579delAAAAAAAAA		EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	11/11				571	INFO_REALIGN_3_PRIME	chr11	TogoVar
EIF1AD_chr11_65991545_66007157	65997326	CAAAAAAA others(2): Show CAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00673.hp1 HG01891.hp1 HG02074.hp2 others(28): Show HG00673.hp1 HG01891.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02273.hp2 HG03130.hp2 NA18906.hp1 NA18944.hp1 NA18949.hp2 NA18950.hp1 NA18969.hp2 NA18973.hp2 NA18975.hp1 NA18980.hp1 NA18984.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18999.hp2 NA19001.hp1 NA19005.hp1 NA19009.hp2 NA19030.hp2 NA19060.hp1 NA19075.hp1 NA19076.hp1 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0013 a0002c0002t0021 others(2): Show a0002c0002t0005 a0002c0002t0013 a0002c0002t0021 a0002c0002t0035 a0002c0002t0040	a0002c0002t0005g0004 a0002c0002t0005g0022 a0002c0002t0005g0068 others(5): Show a0002c0002t0005g0004 a0002c0002t0005g0022 a0002c0002t0005g0068 a0002c0002t0005g0073 a0002c0002t0013g0023 a0002c0002t0021g0033 a0002c0002t0035g0070 a0002c0002t0040g0071	31	394	0.0787	-9	c.12 others(20): Show c.1264_*1272delTTTTTTTTT		EIF1AD	ENSG00000175376.9	transcript	ENST00000533544.6	protein_coding	6/6				1264		chr11	TogoVar
EIF1AX_chrX_20119525_20146838	20119722	TAAAAAAA others(2): Show TAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01106.hp1 others(6): Show HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01891.hp2 HG02970.hp1 HG03139.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0001t0002 a0001c0001t0004 a0001c0002t0004	a0001c0001t0002g0146 a0001c0001t0004g0008 a0001c0001t0004g0152 others(1): Show a0001c0001t0002g0146 a0001c0001t0004g0008 a0001c0001t0004g0152 a0001c0002t0004g0035	9	278	0.0324	-9	c.85 others(20): Show c.8575_*8583delTTTTTTTTT		EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding					4802		chrX	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	CAAAAAAA others(2): Show CAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG03471.hp1 HG02015.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0010 a0001c0001t0005g0157 a0001c0001t0001g0010 a0001c0001t0005g0157	2	278	0.0072	-9	c.59 others(20): Show c.5928_*5936delTTTTTTTTT		EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding					2155		chrX	TogoVar
EIF1AY_chrY_20570776_20598154	20590471	TAAAAATA others(2): Show TAAAAATATA	T T	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	133	0.0075	-9	c.429 others(24): Show c.429+901_429+909delATATAAAAA		EIF1AY	ENSG00000198692.10	transcript	ENST00000361365.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrY	TogoVar
EIF2AK2_chr2_37094210_37161980	37111879	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG02976.hp2 HG01243.hp1 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035	a0001c0001t0030g0305 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0001t0030g0305 a0001c0001t0034g0018 a0001c0001t0035g0019	3	326	0.0092	-9	c.137 others(28): Show c.1378-2593_1378-2585delATATATATA		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	14/16						chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37156910	GCGCCGCC others(2): Show GCGCCGCCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00673.hp2 HG00738.hp2 others(17): Show HG00280.hp2 HG00673.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01109.hp2 HG01346.hp1 HG01515.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02602.hp2 HG02976.hp1 HG03239.hp2 HG04204.hp2 NA18906.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0001t0014 a0001c0001t0032 others(9): Show a0001c0001t0013 a0001c0001t0014 a0001c0001t0032 a0001c0001t0033 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0002t0012 a0001c0002t0073 a0001c0002t0077 a0001c0002t0078	a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0013g0310 others(17): Show a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 a0001c0001t0014g0007 a0001c0001t0014g0008 a0001c0001t0014g0009 a0001c0001t0032g0011 a0001c0001t0033g0010 a0001c0001t0072g0320 a0001c0001t0074g0317 a0001c0001t0075g0321 a0001c0001t0076g0307 a0001c0002t0012g0312 a0001c0002t0012g0313 a0001c0002t0012g0315 a0001c0002t0012g0319 a0001c0002t0073g0318 a0001c0002t0077g0316 a0001c0002t0078g0314	20	326	0.0614	-9	c.-19 others(18): Show c.-195_-187delGCGGCGGCG		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	1/17				9105		chr2	TogoVar
EIF2AK2_chr2_37094210_37161980	37161246	GAGAAAGA others(2): Show GAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02602.hp2 others(2): Show HG02055.hp2 HG02145.hp1 HG02602.hp2 HG03209.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025	a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0014g0007 others(2): Show a0001c0001t0013g0308 a0001c0001t0013g0309 a0001c0001t0014g0007 a0001c0001t0014g0008 a0001c0001t0025g0090	5	326	0.0153	-9	c.-45 others(20): Show c.-4531_-4523delTTTCTTTCT		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding					4267		chr2	TogoVar
EIF2B3_chr1_44845522_44991595	44937883	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG00642.hp1 others(17): Show HG00408.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp1 HG01123.hp2 HG01261.hp2 HG02148.hp2 HG03516.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18947.hp2 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18992.hp1 NA19000.hp1 NA19068.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0001 a0001c0002t0004	a0001c0001t0001g0291 a0001c0002t0001g0138 a0001c0002t0001g0140 others(17): Show a0001c0001t0001g0291 a0001c0002t0001g0138 a0001c0002t0001g0140 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0155 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0176 a0001c0002t0001g0187 a0001c0002t0001g0190 a0001c0002t0001g0202 a0001c0002t0001g0210 a0001c0002t0001g0220 a0001c0002t0004g0184	20	322	0.0621	-9	c.454 others(26): Show c.454+3614_454+3622delTTTTTTTTT		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	4/11						chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44978621	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp2 HG03942.hp2 others(3): Show HG00323.hp1 HG02055.hp2 HG03942.hp2 NA18940.hp2 NA19000.hp1 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0001 a0004c0006t0001 a0001c0002t0001 a0004c0006t0001	a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0171 others(3): Show a0001c0002t0001g0162 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0219 a0004c0006t0001g0228	6	322	0.0186	-9	c.149 others(24): Show c.149-170_149-162delAAAAAAAAA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	2/11						chr1	TogoVar
EIF2D_chr1_206586642_206617465	206612944	CAAAATAA others(2): Show CAAAATAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01123.hp2 HG02074.hp2 others(24): Show HG01070.hp1 HG01123.hp2 HG02074.hp2 HG02602.hp2 HG02698.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03669.hp2 HG03704.hp1 HG03834.hp2 NA18612.hp1 NA18939.hp2 NA18943.hp1 NA18966.hp1 NA18975.hp2 NA18982.hp2 NA18990.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp1 NA19055.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0001c0001t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0196 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0003g0205 a0002c0002t0001g0206	27	426	0.0634	-9	c.-61 others(18): Show c.-611_-603delTTTTATTTT		EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding					480		chr1	TogoVar
EIF2D_chr1_206586642_206617465	206612949	TAAAAAAA others(2): Show TAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG01358.hp2 HG01884.hp2 others(44): Show HG00558.hp2 HG01358.hp2 HG01884.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02523.hp2 HG02615.hp1 HG02622.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18953.hp1 NA18956.hp2 NA18971.hp1 NA18978.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18991.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19066.hp2 NA19081.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 others(18): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0180 a0002c0002t0001g0016 a0002c0002t0001g0115 a0002c0002t0001g0116	47	426	0.1103	-9	c.-61 others(18): Show c.-616_-608delTTTTTTTTT		EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding					485		chr1	TogoVar
EIF2S3_chrX_24049956_24083810	24076924	CTCTTTTT others(2): Show CTCTTTTTTT	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0185 a0001c0002t0038g0185	1	294	0.0034	-9	c.14 others(18): Show c.141_*149delCTTTTTTTT		EIF2S3	ENSG00000130741.11	transcript	ENST00000253039.9	protein_coding	12/12				141	INFO_REALIGN_3_PRIME	chrX	TogoVar
EIF3B_chr7_2349827_2385745	2367825	ATTTTTTT others(2): Show ATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01433.hp2 HG02080.hp1 others(6): Show HG00558.hp2 HG01433.hp2 HG02080.hp1 HG02080.hp2 HG02738.hp2 HG04184.hp2 HG04199.hp2 NA18940.hp1 NA18943.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0007 a0001c0001 a0001c0003 a0005c0007	a0001c0001t0001 a0001c0003t0001 a0005c0007t0001 a0001c0001t0001 a0001c0003t0001 a0005c0007t0001	a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0098 others(6): Show a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0003t0001g0314 a0001c0003t0001g0327 a0001c0003t0001g0330 a0005c0007t0001g0096	9	384	0.0234	-9	c.140 others(26): Show c.1403+806_1403+814delTTTTTTTTT		EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3D_chr22_36505855_36534166	36518494	TAAAAAAA others(2): Show TAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(73): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01071.hp1 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02148.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp1 NA18960.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19011.hp1 NA19030.hp2 NA19070.hp2 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0013 others(1): Show a0001c0001 a0001c0003 a0001c0013 a0002c0006	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0002c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 others(46): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0003t0001g0053 a0001c0013t0001g0192 a0002c0006t0001g0207	76	400	0.1900	-9	c.859 others(24): Show c.859+260_859+268delTTTTTTTTT		EIF3D	ENSG00000100353.18	transcript	ENST00000216190.13	protein_coding	9/14						chr22	TogoVar
EIF3D_chr22_36505855_36534166	36518616	AAAGAGTG others(2): Show AAAGAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00642.hp1 others(25): Show HG00099.hp2 HG00280.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG01167.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG02148.hp1 HG02280.hp2 HG02451.hp1 HG02723.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG03579.hp2 HG03942.hp1 HG04115.hp2 NA19030.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0013 a0001c0001 a0001c0003 a0001c0013	a0001c0001t0001 a0001c0003t0001 a0001c0013t0001 a0001c0001t0001 a0001c0003t0001 a0001c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0039 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0163 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0197 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0003t0001g0053 a0001c0013t0001g0192	28	400	0.0700	-9	c.859 others(24): Show c.859+138_859+146delCACACTCTT		EIF3D	ENSG00000100353.18	transcript	ENST00000216190.13	protein_coding	9/14						chr22	TogoVar
EIF3H_chr8_116637130_116760823	116638430	GTTTTTTT others(2): Show GTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01884.hp1 HG02109.hp2 others(9): Show HG01261.hp1 HG01884.hp1 HG02109.hp2 HG02809.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp1 HG03225.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0015 a0001c0001t0005 a0001c0001t0007 a0001c0001t0015	a0001c0001t0005g0222 a0001c0001t0007g0001 a0001c0001t0007g0314 others(9): Show a0001c0001t0005g0222 a0001c0001t0007g0001 a0001c0001t0007g0314 a0001c0001t0007g0317 a0001c0001t0007g0318 a0001c0001t0007g0319 a0001c0001t0007g0320 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0326 a0001c0001t0015g0258 a0001c0001t0015g0315	12	336	0.0357	-9	c.65 others(20): Show c.6567_*6575delAAAAAAAAA		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding					3699		chr8	TogoVar
EIF3J_chr15_44532147_44567803	44540259	ATATATAT others(2): Show ATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp1 HG02523.hp1 others(17): Show HG02040.hp2 HG02155.hp1 HG02523.hp1 HG02615.hp2 HG02630.hp1 HG02886.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA18951.hp2 NA18960.hp2 NA18966.hp2 NA18967.hp2 NA18971.hp2 NA18986.hp2 NA18990.hp2 NA19004.hp2 NA19063.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003	a0001c0001t0002g0016 a0001c0001t0002g0216 a0001c0001t0002g0218 others(15): Show a0001c0001t0002g0016 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0217 a0002c0002t0003g0017 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0271	20	292	0.0685	-9	c.147 others(26): Show c.147+2834_147+2842delATATATATT		EIF3J	ENSG00000104131.13	transcript	ENST00000261868.10	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF3J_chr15_44532147_44567803	44546816	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02630.hp1 others(7): Show HG02258.hp2 HG02615.hp2 HG02630.hp1 HG02886.hp2 HG02965.hp2 HG03471.hp1 HG03516.hp1 HG06807.hp2 NA18906.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0244 a0002c0002t0003g0017 a0002c0002t0003g0240 others(6): Show a0002c0002t0002g0244 a0002c0002t0003g0017 a0002c0002t0003g0240 a0002c0002t0003g0241 a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0269 a0002c0002t0003g0270 a0002c0002t0003g0271	10	292	0.0343	-9	c.148 others(26): Show c.148-4040_148-4032delTTTTTTTTT		EIF3J	ENSG00000104131.13	transcript	ENST00000261868.10	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF3M_chr11_32578831_32611264	32607080	ATTTTTTT others(2): Show ATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp2 HG00609.hp1 others(96): Show HG00408.hp2 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp2 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18966.hp1 NA18983.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19068.hp2 NA19072.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19240.hp2 NA20129.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0002t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 others(54): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0106 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0157 a0001c0001t0004g0006 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0033 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0007g0018 a0001c0001t0008g0014 a0001c0001t0008g0045 a0001c0001t0008g0118 a0001c0001t0008g0129 a0001c0001t0012g0013 a0001c0001t0013g0109 a0001c0001t0013g0110 a0001c0001t0013g0111 a0001c0001t0013g0115 a0001c0001t0019g0006 a0001c0001t0019g0030 a0001c0001t0023g0055 a0001c0001t0023g0127 a0001c0001t0026g0006 a0001c0001t0027g0006 a0001c0001t0028g0138 a0001c0001t0029g0062 a0001c0001t0042g0014 a0001c0001t0046g0005 a0001c0001t0047g0004 a0001c0002t0002g0004	99	344	0.2878	-9	c.46 others(20): Show c.4682_*4690delTTTTTTTTT		EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding					817		chr11	TogoVar
EIF4A3_chr17_80129369_80152128	80132127	AAAACAAA others(2): Show AAAACAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp2 HG02040.hp1 HG02809.hp1 others(8): Show HG01358.hp2 HG02040.hp1 HG02809.hp1 HG03490.hp1 HG03491.hp2 HG03688.hp1 NA18973.hp2 NA18978.hp2 NA18993.hp1 NA18999.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0002t0007 a0001c0002t0008	a0001c0001t0001g0027 a0001c0001t0002g0018 a0001c0001t0003g0147 others(7): Show a0001c0001t0001g0027 a0001c0001t0002g0018 a0001c0001t0003g0147 a0001c0001t0006g0007 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0168 a0001c0002t0007g0001 a0001c0002t0007g0025 a0001c0002t0008g0013	11	420	0.0262	-9	c.33 others(20): Show c.3354_*3362delGTTTTGTTT		EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding					2241		chr17	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450846	CACACACA others(2): Show CACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG02970.hp1 others(1): Show HG02717.hp1 HG02818.hp1 HG02970.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0251 a0001c0001t0001g0252 others(1): Show a0001c0001t0001g0212 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0329	4	366	0.0109	-9	c.151 others(26): Show c.1513-495_1513-487delTGTGTGTGT		EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18						chr22	TogoVar
EIF4E_chr4_98874276_98934133	98874784	CTTTTTTT others(2): Show CTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG01169.hp2 others(21): Show HG00735.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(21): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197	24	300	0.0800	-9	c.62 others(20): Show c.6235_*6243delAAAAAAAAA		EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding					4491		chr4	TogoVar
EIF4G1_chr3_184309606_184340353	184321978	AAGGAGAA others(2): Show AAGGAGAAGC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00738.hp2 HG01109.hp1 HG01175.hp1 others(2): Show HG00738.hp2 HG01109.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0012 a0003c0005t0001g0064 a0003c0005t0001g0012 a0003c0005t0001g0064	5	384	0.0130	-9	c.141 others(18): Show c.1413_1421delAGGAGAAGC	p.Gly others(13): Show p.Gly472_Ala474del	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	10/33	1573/5405	1413/4800	471/1599		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20861568	AGAGTTAA others(2): Show AGAGTTAAAG	A A	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19065.hp2 NA19089.hp2 NA19005.hp1 NA19065.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0011g0278 a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0011g0278	3	312	0.0096	-9	c.311 others(26): Show c.3111+651_3111+659delCTTTAACTC		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	23/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20939847	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02258.hp2 others(7): Show HG01069.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp1 HG02717.hp1 HG03139.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 others(7): Show a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0014g0118	10	312	0.0321	-9	c.166 others(28): Show c.1663+1635_1663+1643delAAAAAAAAA		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	14/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20959655	CAATAATA others(2): Show CAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01952.hp1 others(20): Show HG00408.hp2 HG01256.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02602.hp1 HG03239.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18979.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0004g0024 others(20): Show a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0001t0023g0029	23	312	0.0737	-9	c.715 others(26): Show c.715-9553_715-9545delATTATTATT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	12/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20986744	CAAAAAAA others(2): Show CAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18947.hp1 NA18948.hp1 others(3): Show HG04204.hp2 NA18947.hp1 NA18948.hp1 NA18960.hp1 NA19000.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 others(3): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0203 a0001c0001t0003g0027 a0001c0001t0003g0266 a0001c0001t0010g0202	6	312	0.0192	-9	c.178 others(26): Show c.178-4345_178-4337delTTTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21094765	TATAATAA others(2): Show TATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01952.hp1 others(23): Show HG00408.hp2 HG01256.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02602.hp1 HG03239.hp1 HG03710.hp1 HG03927.hp2 HG04199.hp1 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18960.hp2 NA18964.hp2 NA18979.hp1 NA18988.hp2 NA19004.hp1 NA19010.hp1 NA19012.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19085.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023	a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 others(23): Show a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0001t0023g0029	26	312	0.0833	-9	c.-27 others(28): Show c.-271-5561_-271-5553delTATTATTAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21158988	CAAAAAAA others(2): Show CAAAAAAAGA	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 NA18965.hp1 NA19087.hp2 others(1): Show HG01496.hp2 NA18965.hp1 NA19087.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0264 others(1): Show a0001c0001t0003g0026 a0001c0001t0003g0028 a0001c0001t0003g0264 a0001c0001t0012g0297	4	312	0.0128	-9	c.-27 others(30): Show c.-272+17178_-272+17186delTCTTTTTTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36						chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179865	AATATATA others(2): Show AATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp2 others(109): Show HG00140.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02155.hp2 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp1 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18979.hp1 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA19004.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0004c0006 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0009t0002 a0002c0003t0001 a0004c0006t0001 a0005c0012t0002	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0121 others(109): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0121 a0001c0001t0001g0129 a0001c0001t0001g0167 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0218 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0228 a0001c0001t0004g0229 a0001c0001t0004g0231 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0005g0295 a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0044 a0001c0001t0009g0204 a0001c0001t0009g0205 a0001c0001t0009g0206 a0001c0001t0010g0220 a0001c0001t0010g0232 a0001c0001t0011g0275 a0001c0001t0011g0277 a0001c0001t0011g0278 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0014g0118 a0001c0001t0017g0003 a0001c0001t0018g0073 a0001c0001t0019g0093 a0001c0001t0020g0023 a0001c0001t0021g0276 a0001c0001t0023g0029 a0001c0009t0002g0092 a0002c0003t0001g0211 a0002c0003t0001g0212 a0002c0003t0001g0213 a0004c0006t0001g0119 a0004c0006t0001g0120 a0005c0012t0002g0005	112	312	0.3590	-9	c.-36 others(20): Show c.-3608_-3600delATTATATAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding					2969		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179911	AATATATA others(2): Show AATATATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 NA19009.hp2 HG01167.hp2 HG01169.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0133 a0001c0001t0001g0168 a0001c0001t0001g0016 a0001c0001t0001g0133 a0001c0001t0001g0168	3	312	0.0096	-9	c.-36 others(20): Show c.-3654_-3646delATTATATAT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding					3015		chr1	TogoVar
ELAC1_chr18_50963040_50993121	50983155	GTTTTTTT others(2): Show GTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02486.hp1 others(5): Show HG01891.hp1 HG02258.hp1 HG02486.hp1 HG02630.hp1 HG02965.hp2 HG02976.hp1 HG03195.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0090 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0090 a0001c0001t0001g0097 a0002c0002t0001g0087 a0002c0002t0001g0092 a0002c0002t0001g0094	8	384	0.0208	-9	c.158 others(24): Show c.158-923_158-915delTTTTTTTTT		ELAC1	ENSG00000141642.9	transcript	ENST00000269466.8	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr18	TogoVar
ELAC2_chr17_12986612_13023027	12986697	AAAAAAGA others(2): Show AAAAAAGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG03017.hp1 HG04115.hp2 others(3): Show HG00642.hp1 HG03017.hp1 HG04115.hp2 HG06807.hp1 NA20752.hp1 NA20805.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0006 a0003c0006t0006	a0003c0006t0006g0010 a0003c0006t0006g0088 a0003c0006t0006g0089 a0003c0006t0006g0010 a0003c0006t0006g0088 a0003c0006t0006g0089	6	400	0.0150	-9	c.61 others(20): Show c.6112_*6120delATTCTTTTT		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					4914		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109116680	CTTTTTTT others(2): Show CTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(56): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01261.hp2 HG01346.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp1 HG02015.hp1 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03516.hp1 HG03654.hp2 HG06807.hp1 NA18948.hp1 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19074.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0022 a0002c0003 others(6): Show a0001c0001 a0001c0022 a0002c0003 a0002c0005 a0002c0006 a0002c0017 a0003c0004 a0004c0008 a0008c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0036 a0001c0022t0005 a0002c0003t0003 a0002c0005t0006 a0002c0006t0008 a0002c0017t0012 a0003c0004t0004 a0004c0008t0009 a0004c0008t0041 a0008c0023t0034	a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 others(56): Show a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0001g0056 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0041 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0005g0013 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0001t0019g0019 a0001c0001t0036g0063 a0001c0022t0005g0132 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0006t0008g0062 a0002c0017t0012g0021 a0002c0017t0012g0025 a0003c0004t0004g0017 a0003c0004t0004g0022 a0003c0004t0004g0024 a0004c0008t0009g0065 a0004c0008t0041g0059 a0008c0023t0034g0054	59	230	0.2565	-9	c.153 others(26): Show c.153+2357_153+2365delTTTTTTTTT		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109182333	AAATAATA others(2): Show AAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00323.hp2 others(74): Show HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp2 HG01074.hp2 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp2 HG02071.hp1 HG02083.hp1 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 NA18959.hp1 NA18962.hp1 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19081.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0019 others(16): Show a0001c0001 a0001c0002 a0001c0019 a0001c0022 a0001c0032 a0001c0035 a0001c0039 a0001c0040 a0002c0003 a0002c0006 a0002c0009 a0002c0014 a0002c0015 a0002c0016 a0002c0028 a0002c0037 a0003c0026 a0004c0011 a0009c0041	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0019t0003 a0001c0022t0005 a0001c0032t0005 a0001c0035t0010 a0001c0039t0005 a0001c0040t0019 a0002c0003t0003 a0002c0003t0010 a0002c0003t0011 a0002c0003t0039 a0002c0006t0001 a0002c0006t0002 a0002c0006t0008 a0002c0006t0011 a0002c0009t0003 a0002c0009t0010 a0002c0014t0006 a0002c0015t0017 a0002c0016t0022 a0002c0028t0001 a0002c0037t0027 a0003c0026t0004 a0004c0011t0004 a0009c0041t0002	a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0002g0018 others(74): Show a0001c0001t0001g0008 a0001c0001t0001g0123 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0064 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0058 a0001c0001t0005g0115 a0001c0001t0005g0131 a0001c0001t0019g0019 a0001c0002t0001g0216 a0001c0002t0002g0148 a0001c0002t0002g0151 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0174 a0001c0002t0002g0178 a0001c0002t0002g0183 a0001c0002t0002g0189 a0001c0002t0002g0192 a0001c0002t0002g0197 a0001c0002t0002g0212 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0003g0168 a0001c0002t0005g0149 a0001c0002t0005g0164 a0001c0002t0005g0177 a0001c0002t0005g0185 a0001c0002t0005g0227 a0001c0019t0003g0136 a0001c0022t0005g0132 a0001c0032t0005g0184 a0001c0035t0010g0198 a0001c0039t0005g0169 a0001c0040t0019g0170 a0002c0003t0003g0089 a0002c0003t0010g0122 a0002c0003t0011g0097 a0002c0003t0011g0140 a0002c0003t0039g0112 a0002c0006t0001g0111 a0002c0006t0002g0133 a0002c0006t0002g0134 a0002c0006t0002g0135 a0002c0006t0002g0208 a0002c0006t0008g0062 a0002c0006t0011g0100 a0002c0009t0003g0116 a0002c0009t0010g0143 a0002c0014t0006g0157 a0002c0015t0017g0082 a0002c0015t0017g0113 a0002c0016t0022g0076 a0002c0016t0022g0085 a0002c0028t0001g0072 a0002c0037t0027g0191 a0003c0026t0004g0077 a0004c0011t0004g0180 a0004c0011t0004g0187 a0009c0041t0002g0156	77	230	0.3348	-9	c.953 others(26): Show c.953-2690_953-2682delAATAATAAT		ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86964241	CACTAAAT others(2): Show CACTAAATTA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00609.hp1 HG00639.hp1 others(58): Show HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00738.hp2 HG01081.hp2 HG01167.hp1 HG01243.hp2 HG01433.hp2 HG01517.hp2 HG01884.hp2 HG02109.hp1 HG02132.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA18994.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19081.hp2 NA20129.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0008	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0003c0005 a0004c0006 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0011 a0001c0004t0001 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0003c0005t0001 a0003c0005t0015 a0004c0006t0001 a0008c0010t0004	a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 others(58): Show a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0089 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0156 a0001c0001t0003g0018 a0001c0001t0003g0178 a0001c0001t0008g0012 a0001c0001t0008g0013 a0001c0001t0010g0108 a0001c0001t0012g0104 a0001c0003t0001g0011 a0001c0003t0001g0076 a0001c0003t0001g0091 a0001c0003t0004g0006 a0001c0003t0004g0090 a0001c0003t0004g0094 a0001c0003t0004g0131 a0001c0003t0004g0137 a0001c0003t0007g0154 a0001c0003t0007g0182 a0001c0003t0011g0100 a0001c0004t0001g0051 a0001c0004t0003g0074 a0001c0004t0003g0185 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0155 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0187 a0002c0002t0002g0140 a0002c0002t0002g0141 a0003c0005t0001g0077 a0003c0005t0001g0078 a0003c0005t0001g0079 a0003c0005t0001g0080 a0003c0005t0001g0083 a0003c0005t0001g0136 a0003c0005t0015g0085 a0004c0006t0001g0191 a0004c0006t0001g0192 a0004c0006t0001g0193 a0004c0006t0001g0194 a0004c0006t0001g0195 a0004c0006t0001g0196 a0008c0010t0004g0176	61	196	0.3112	-9	c.310 others(24): Show c.310+654_310+662delTAATTTAGT		ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	2/21						chr7	TogoVar
ELAVL1_chr19_7953573_8010641	8009532	TTTATTAT others(2): Show TTTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00621.hp1 others(42): Show HG00408.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG01099.hp1 HG01106.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG03139.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04228.hp2 NA18747.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA19065.hp1 NA19077.hp1 NA19082.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0038 a0001c0001t0040 a0001c0002t0005	a0001c0001t0001g0058 a0001c0001t0001g0118 a0001c0001t0001g0158 others(41): Show a0001c0001t0001g0058 a0001c0001t0001g0118 a0001c0001t0001g0158 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0150 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0003g0015 a0001c0001t0006g0200 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0006g0203 a0001c0001t0007g0028 a0001c0001t0007g0170 a0001c0001t0007g0174 a0001c0001t0007g0195 a0001c0001t0007g0197 a0001c0001t0014g0014 a0001c0001t0015g0044 a0001c0001t0015g0198 a0001c0001t0021g0151 a0001c0001t0022g0165 a0001c0001t0023g0177 a0001c0001t0024g0176 a0001c0001t0038g0084 a0001c0001t0040g0179 a0001c0002t0005g0214 a0001c0002t0005g0215 a0001c0002t0005g0216	45	276	0.1630	-9	c.-40 others(20): Show c.-4063_-4055delTAATAATAA		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					3892		chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11464884	TACACACA others(2): Show TACACACACC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp2 others(99): Show HG00099.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02622.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp1 HG02922.hp1 HG03225.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18975.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA19002.hp2 NA19012.hp2 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0040 a0001c0001t0041 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0059 a0001c0001t0060 a0001c0001t0065 a0001c0001t0067 a0001c0001t0079 a0001c0001t0080 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(93): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0240 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0074 a0001c0001t0002g0144 a0001c0001t0002g0149 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0216 a0001c0001t0004g0006 a0001c0001t0004g0115 a0001c0001t0004g0165 a0001c0001t0004g0167 a0001c0001t0004g0195 a0001c0001t0004g0197 a0001c0001t0004g0203 a0001c0001t0004g0208 a0001c0001t0005g0153 a0001c0001t0005g0217 a0001c0001t0006g0049 a0001c0001t0006g0111 a0001c0001t0006g0151 a0001c0001t0006g0200 a0001c0001t0007g0178 a0001c0001t0008g0168 a0001c0001t0009g0116 a0001c0001t0009g0212 a0001c0001t0014g0164 a0001c0001t0017g0002 a0001c0001t0024g0206 a0001c0001t0026g0078 a0001c0001t0026g0184 a0001c0001t0040g0143 a0001c0001t0041g0154 a0001c0001t0043g0207 a0001c0001t0045g0061 a0001c0001t0046g0083 a0001c0001t0047g0172 a0001c0001t0049g0067 a0001c0001t0051g0150 a0001c0001t0052g0047 a0001c0001t0055g0176 a0001c0001t0059g0152 a0001c0001t0060g0161 a0001c0001t0065g0160 a0001c0001t0067g0169 a0001c0001t0079g0285 a0001c0001t0080g0275 a0001c0007t0001g0105	102	318	0.3208	-9	c.333 others(26): Show c.333+1279_333+1287delGGTGTGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELAVL3_chr19_11446326_11486046	11464934	TACACACA others(2): Show TACACACACC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp1 HG02257.hp2 others(9): Show HG01123.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02622.hp2 HG02886.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 others(9): Show a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0305 a0001c0001t0005g0295 a0001c0001t0015g0296 a0001c0001t0015g0301 a0001c0001t0021g0298 a0001c0001t0021g0300 a0001c0001t0022g0139 a0001c0001t0022g0294 a0001c0001t0031g0017 a0001c0001t0032g0016	12	318	0.0377	-9	c.333 others(26): Show c.333+1229_333+1237delGGTGTGTGT		ELAVL3	ENSG00000196361.10	transcript	ENST00000359227.8	protein_coding	3/6						chr19	TogoVar
ELF1_chr13_40926924_41024316	40952847	TTACCCTC others(2): Show TTACCCTCTG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(55): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01168.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp1 HG01517.hp2 HG02015.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02698.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp2 HG03486.hp1 HG03669.hp2 HG04184.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18946.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18982.hp2 NA18995.hp2 NA18998.hp1 NA19007.hp2 NA19012.hp2 NA19030.hp2 NA19054.hp1 NA19062.hp1 NA19065.hp2 NA19066.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0003c0004 others(2): Show a0001c0001 a0001c0003 a0003c0004 a0003c0016 a0005c0007	a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0014 a0001c0003t0001 a0001c0003t0012 a0003c0004t0001 a0003c0016t0001 a0005c0007t0001	a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0014g0248 others(54): Show a0001c0001t0001g0128 a0001c0001t0001g0155 a0001c0001t0014g0248 a0001c0003t0001g0003 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0062 a0001c0003t0001g0066 a0001c0003t0001g0092 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0099 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0118 a0001c0003t0001g0120 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0159 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0001g0178 a0001c0003t0001g0186 a0001c0003t0001g0187 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0239 a0001c0003t0001g0240 a0001c0003t0001g0244 a0001c0003t0001g0249 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0265 a0001c0003t0001g0292 a0001c0003t0001g0311 a0001c0003t0001g0321 a0001c0003t0001g0323 a0001c0003t0001g0353 a0001c0003t0012g0119 a0003c0004t0001g0214 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0016t0001g0052 a0005c0007t0001g0079 a0005c0007t0001g0090 a0005c0007t0001g0127	58	362	0.1602	-9	c.254 others(26): Show c.254-1420_254-1412delCAGAGGGTA		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8						chr13	TogoVar
ELF2_chr4_139052265_139182218	139081910	GAACATTA others(2): Show GAACATTATT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(104): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00621.hp2 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18952.hp1 NA18954.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18974.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp2 NA19009.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0003c0003t0003	a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0137 others(104): Show a0001c0001t0001g0126 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0002g0003 a0001c0001t0002g0062 a0001c0001t0002g0073 a0001c0001t0002g0109 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0220 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0341 a0001c0001t0003g0130 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0229 a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0011g0190 a0003c0003t0003g0147 a0003c0003t0003g0148	107	342	0.3129	-9	c.239 others(26): Show c.239-8352_239-8344delAATAATGTT		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9						chr4	TogoVar
ELF4_chrX_130058955_130115497	130063972	TTTATTAT others(2): Show TTTATTATTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0104 a0001c0001t0038g0104	1	274	0.0037	-9	c.27 others(20): Show c.2740_*2748delTAATAATAA		ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	9/9				2740		chrX	TogoVar

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