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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DRICH1_chr22_23603452_23637321	23627704	AGCAGCAG others(16): Show AGCAGCAGGAGCCAAGGGGCAGGG	A A	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0095 a0002c0002t0002g0095	1	446	0.0022	-23	c.209 others(40): Show c.209-1679_209-1657delCCCTGCCCCTTGGCTCCTGCTGC	DRICH1	ENSG00000189269.13	transcript	ENST00000317749.9	protein_coding	1/11			chr22	TogoVar
DSCC1_chr8_119828976_119860894	119853293	CTCTAGGC others(16): Show CTCTAGGCTTGCAGAACTTAGAAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02027.hp2 HG02145.hp2 others(14): Show HG00738.hp2 HG02027.hp2 HG02145.hp2 HG02559.hp1 HG02698.hp1 HG02735.hp1 HG02965.hp1 HG03139.hp1 HG03209.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03704.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0173 a0001c0001t0002g0010 a0001c0001t0002g0014 others(6): Show a0001c0001t0001g0173 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0048 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0003g0174	17	378	0.0450	-23	c.183 others(37): Show c.183-101_183-79delATTCTAAGTTCTGCAAGCCTAGA	DSCC1	ENSG00000136982.6	transcript	ENST00000313655.5	protein_coding	1/8			chr8	TogoVar
DST_chr6_56452996_56959830	56945557	GAAAAAGC others(16): Show GAAAAAGCAGGTGACTCTGAACCT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	84	0.0119	-23	c.216 others(40): Show c.216+8205_216+8227delAGGTTCAGAGTCACCTGCTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	2/103			chr6	TogoVar
DTL_chr1_212030748_212110013	212051442	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02897.hp2 others(3): Show HG02257.hp1 HG02559.hp1 HG02897.hp2 HG02976.hp2 HG03710.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0013 a0001c0005t0007	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0007g0331 others(2): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0007g0331 a0001c0001t0013g0145 a0001c0005t0007g0020	6	364	0.0165	-23	c.460 others(40): Show c.460+4047_460+4069delTTTTTTTTTTTTTTTTTTTTTTT	DTL	ENSG00000143476.18	transcript	ENST00000366991.5	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
DUS2_chr16_68018284_68084320	68034296	TGATCTCC others(16): Show TGATCTCCCATCTCCAACTCAAGC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	234	0.0043	-23	c.-18 others(40): Show c.-18-3701_-18-3679delATCTCCAACTCAAGCGATCTCCC	DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
DUSP14_chr17_37484891_37518498	37509274	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(66): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00609.hp1 HG01168.hp1 HG01496.hp1 HG01891.hp2 HG01934.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp1 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02523.hp2 HG02647.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02970.hp2 HG03017.hp2 HG03195.hp2 HG03453.hp2 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18942.hp1 NA18944.hp1 NA18951.hp1 NA18959.hp2 NA18960.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18997.hp1 NA19002.hp2 NA19006.hp1 NA19010.hp1 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp2 NA19068.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(58): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0098 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0311 a0001c0001t0001g0319 a0001c0001t0001g0343 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0001g0385 a0001c0001t0002g0204 a0001c0001t0002g0306 a0001c0001t0004g0084 a0001c0001t0004g0116 a0001c0001t0004g0121	69	421	0.1639	-23	c.-18 others(42): Show c.-180-1402_-180-1380delATATATATATATATATATATATA	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUSP26_chr8_33586330_33605023	33591917	TCTGGGCC others(16): Show TCTGGGCCTCCTGCTACCTGCCAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0161 a0001c0001t0013g0161	1	420	0.0024	-23	c.73 others(30): Show c.73_*95delGTGGCAGGTAGCAGGAGGCCCAG	DUSP26	ENSG00000133878.9	transcript	ENST00000256261.9	protein_coding	4/4	73		chr8	TogoVar
DUSP29_chr10_75032472_75078642	75074302	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 NA18994.hp1 HG02155.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	368	0.0054	-23	c.-79 others(32): Show c.-791_-769delATATATATTTTTTTTTTTTTTTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		661		chr10	TogoVar
DUSP29_chr10_75032472_75078642	75074304	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	368	0.0027	-23	c.-79 others(32): Show c.-793_-771delATATATATATTTTTTTTTTTTTT	DUSP29	ENSG00000188716.6	transcript	ENST00000338487.6	protein_coding		663		chr10	TogoVar
DUSP5_chr10_110492907_110516533	110514454	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01069.hp1 HG01071.hp1 others(31): Show HG00597.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01243.hp2 HG01361.hp2 HG01978.hp2 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02647.hp2 HG03098.hp1 HG03098.hp2 HG03579.hp1 HG03831.hp2 HG06807.hp1 NA18939.hp1 NA18950.hp2 NA18956.hp1 NA18967.hp1 NA18986.hp2 NA18997.hp2 NA19062.hp2 NA19065.hp1 NA19076.hp2 NA19077.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0006c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0006t0001 a0002c0003t0005 a0006c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0075 a0001c0001t0001g0093 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0009g0001 a0001c0002t0001g0014 a0001c0006t0001g0027 a0002c0003t0005g0007 a0002c0003t0005g0023 a0002c0003t0005g0028 a0002c0003t0005g0057 a0006c0007t0001g0088	34	410	0.0829	-23	c.40 others(34): Show c.4029_*4051delTTTTTTTTTTTTTTTTTTTTTTT	DUSP5	ENSG00000138166.6	transcript	ENST00000369583.4	protein_coding		2922		chr10	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537948	AATTTATA others(16): Show AATTTATATATATAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19088.hp1 NA18943.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0227 a0001c0001t0001g0160 a0001c0001t0001g0227	2	336	0.0060	-23	c.739 others(38): Show c.739-867_739-845delATATATATATTATATATATAAAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537961	AATATATA others(16): Show AATATATATATATTTATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 NA18944.hp2 others(3): Show HG01515.hp2 HG01517.hp1 NA18944.hp2 NA18956.hp1 NA18973.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0144 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0002g0223 a0001c0001t0012g0252 a0001c0001t0012g0255	6	336	0.0179	-23	c.739 others(38): Show c.739-880_739-858delATTATATATAAATATATATATAT	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2H1_chr11_103104426_103484863	103417268	CGGGGTTT others(16): Show CGGGGTTTCACCATGTTGGTCAGG	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19030.hp2 HG01891.hp1 NA19030.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0202 a0011c0035t0001g0204 a0011c0035t0001g0202 a0011c0035t0001g0204	2	262	0.0076	-23	c.123 others(46): Show c.12366+17420_12366+17442delGGGGTTTCACCATGTTGGTCAG G	DYNC2H1	ENSG00000187240.17	transcript	ENST00000375735.7	protein_coding	84/88		INFO_REALIGN_3_PRIME	chr11	TogoVar
DYNC2I1_chr7_158851558_158951189	158935926	ACGGTGGC others(16): Show ACGGTGGCCCAAATCCCAGCACTT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0062 a0002c0002t0001g0062	1	274	0.0037	-23	c.277 others(42): Show c.2778+1381_2778+1403delTGGCCCAAATCCCAGCACTTCGG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYRK1A_chr21_37361773_37531358	37408245	CACTTATT others(16): Show CACTTATTTTGTGGTTTGAAGATG	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0266 a0001c0001t0019g0266	1	350	0.0029	-23	c.-76 others(42): Show c.-76-12050_-76-12028delTATTTTGTGGTTTGAAGATGACT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYSF_chr2_71448561_71691763	71543855	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGACCGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0064 a0001c0064	a0001c0064t0001 a0001c0064t0001	a0001c0064t0001g0046 a0001c0064t0001g0046	1	192	0.0052	-23	c.148 others(42): Show c.1480+4633_1480+4655delCCGTGGGGAGAGGGAGAGGGAGA	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	16/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71543855	AGAGAGGG others(16): Show AGAGAGGGAGAGGGAGACCGTGGG	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0001 a0001c0067t0001	a0001c0067t0001g0083 a0001c0067t0001g0083	1	208	0.0048	-23	c.157 others(42): Show c.1576+4633_1576+4655delCCGTGGGGAGAGGGAGAGGGAGA	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
E2F4_chr16_67187155_67203918	67198446	GCAGTGTC others(16): Show GCAGTGTCTTGTTCCTGCCAGCCT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0001 a0001c0001t0007g0001	1	320	0.0031	-23	c.33 others(32): Show c.334_*356delTTCCTGCCAGCCTCAGTGTCTTG	E2F4	ENSG00000205250.9	transcript	ENST00000379378.8	protein_coding	10/10	334	INFO_REALIGN_3_PRIME	chr16	TogoVar
E2F6_chr2_11439375_11471161	11447005	TCGGTGGA others(16): Show TCGGTGGAGCTGTTGGCTGGGTAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0154	1	366	0.0027	-23	c.800 others(38): Show c.800-505_800-483delGTACCCAGCCAACAGCTCCACCG	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding	6/6			chr2	TogoVar
E2F8_chr11_19219063_19245945	19241201	GGGCAAAC others(16): Show GGGCAAACCCGCGCCCGGAACCAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0022 a0001c0002t0003g0022	1	438	0.0023	-23	c.-78 others(32): Show c.-786_-764delGTGGTTCCGGGCGCGGGTTTGCC	E2F8	ENSG00000129173.13	transcript	ENST00000250024.9	protein_coding		257		chr11	TogoVar
EBF1_chr5_158690920_159104916	158840650	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02717.hp1 HG02809.hp2 others(5): Show HG02572.hp1 HG02717.hp1 HG02809.hp2 HG03139.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0018 a0001c0001t0039 a0001c0001t0058 a0001c0001t0077 a0001c0001t0088 a0001c0001t0095	a0001c0001t0001g0147 a0001c0001t0015g0034 a0001c0001t0018g0085 others(5): Show a0001c0001t0001g0147 a0001c0001t0015g0034 a0001c0001t0018g0085 a0001c0001t0039g0030 a0001c0001t0058g0051 a0001c0001t0077g0088 a0001c0001t0088g0190 a0001c0001t0095g0196	8	196	0.0408	-23	c.555 others(38): Show c.555-563_555-541delCAAAAAAAAAAAAAAAAAAAAAA	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	6/15			chr5	TogoVar
ECE2_chr3_184271022_184298031	184274767	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG03654.hp1 HG00099.hp2 HG00280.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	3	398	0.0075	-23	c.-13 others(34): Show c.-1386_-1364delAAAGAAAGAAAGAAAGAAAGAGA	ECE2	ENSG00000145194.19	transcript	ENST00000404464.8	protein_coding		1254		chr3	TogoVar
ECI1_chr16_2234402_2256587	2242777	GGCAGGAA others(16): Show GGCAGGAAGGAGCCTCCCTGGAAC	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01993.hp1 others(10): Show HG01069.hp1 HG01071.hp1 HG01993.hp1 HG02109.hp1 HG02257.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG03130.hp2 HG03540.hp1 NA18522.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0136 a0001c0001t0001g0163 a0001c0001t0001g0003 a0001c0001t0001g0136 a0001c0001t0001g0163	13	436	0.0298	-23	c.742 others(38): Show c.742+246_742+268delGTTCCAGGGAGGCTCCTTCCTGC	ECI1	ENSG00000167969.13	transcript	ENST00000301729.9	protein_coding	6/6			chr16	TogoVar
EDIL3_chr5_83935554_84389880	84160742	TTTCTTTC others(16): Show TTTCTTTCCTTTCCTTTCCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	158	0.0063	-23	c.355 others(42): Show c.355+19628_355+19650delGGAAAGGAAAGGAAAGGAAAGAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92869752	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0023 a0001c0002t0003g0023	1	244	0.0041	-23	c.118 others(40): Show c.118-4788_118-4766delTTTTTTTTTTTTTTTTTTTTTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	2/28			chr12	TogoVar
EEA1_chr12_92765637_92934295	92892583	GCTCTGTC others(16): Show GCTCTGTCATCCAGGCTGGTCTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00639.hp2 others(40): Show HG00099.hp2 HG00140.hp2 HG00639.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01934.hp1 HG01978.hp2 HG02015.hp2 HG02083.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03942.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18967.hp1 NA18977.hp1 NA19030.hp2 NA19080.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0003 a0001c0012 a0002c0003	a0001c0012t0006 a0002c0003t0002 a0002c0003t0004 others(3): Show a0001c0012t0006 a0002c0003t0002 a0002c0003t0004 a0002c0003t0043 a0002c0003t0055 a0002c0003t0056	a0001c0012t0006g0157 a0002c0003t0002g0001 a0002c0003t0002g0013 others(39): Show a0001c0012t0006g0157 a0002c0003t0002g0001 a0002c0003t0002g0013 a0002c0003t0002g0144 a0002c0003t0002g0145 a0002c0003t0002g0146 a0002c0003t0002g0148 a0002c0003t0002g0149 a0002c0003t0002g0153 a0002c0003t0002g0154 a0002c0003t0002g0156 a0002c0003t0002g0158 a0002c0003t0002g0159 a0002c0003t0002g0160 a0002c0003t0002g0161 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0169 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0173 a0002c0003t0002g0177 a0002c0003t0002g0180 a0002c0003t0002g0224 a0002c0003t0004g0147 a0002c0003t0004g0151 a0002c0003t0004g0152 a0002c0003t0004g0165 a0002c0003t0004g0166 a0002c0003t0004g0167 a0002c0003t0004g0168 a0002c0003t0004g0170 a0002c0003t0004g0174 a0002c0003t0004g0175 a0002c0003t0004g0176 a0002c0003t0004g0179 a0002c0003t0004g0226 a0002c0003t0004g0227 a0002c0003t0043g0155 a0002c0003t0055g0150 a0002c0003t0056g0178	43	244	0.1762	-23	c.25- others(36): Show c.25-885_25-863delTGAGACCAGCCTGGATGACAGAG	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1A2_chr20_63483014_63504083	63490016	TCCCCTCG others(16): Show TCCCCTCGTTGAGTGCTCGGTGGC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp2 HG01070.hp2 others(11): Show HG00673.hp1 HG00735.hp2 HG01070.hp2 HG01192.hp1 HG01928.hp2 HG02135.hp2 HG03239.hp1 HG03831.hp1 NA18965.hp2 NA18970.hp2 NA18989.hp2 NA19011.hp1 NA19067.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0014	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0002c0014t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0002t0001g0203 others(9): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0002t0001g0203 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0002c0014t0001g0071	14	374	0.0374	-23	c.102 others(40): Show c.1029+440_1029+462delGCCACCGAGCACTCAACGAGGGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	6/7			chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63491180	TGGCCCTG others(16): Show TGGCCCTGCTCCCTGCTCCCTGCA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(128): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01981.hp2 HG01993.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp2 NA18950.hp2 NA18952.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18989.hp2 NA18990.hp1 NA19000.hp2 NA19002.hp1 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19057.hp2 NA19067.hp2 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(7): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0016 a0002c0014 a0003c0012	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0009 a0001c0007t0001 a0001c0007t0002 a0001c0007t0003 a0001c0007t0006 a0001c0008t0001 a0001c0010t0004 a0001c0016t0001 a0002c0014t0001 a0003c0012t0008	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(81): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0138 a0001c0001t0001g0155 a0001c0001t0001g0180 a0001c0002t0001g0009 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0021 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0142 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0169 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0004t0001g0004 a0001c0004t0001g0032 a0001c0004t0001g0033 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0067 a0001c0004t0001g0068 a0001c0004t0001g0073 a0001c0004t0001g0074 a0001c0004t0001g0075 a0001c0004t0001g0076 a0001c0004t0001g0077 a0001c0004t0001g0078 a0001c0005t0001g0016 a0001c0005t0001g0133 a0001c0005t0001g0134 a0001c0005t0001g0135 a0001c0005t0001g0136 a0001c0005t0001g0143 a0001c0005t0001g0148 a0001c0005t0001g0207 a0001c0005t0001g0208 a0001c0005t0001g0209 a0001c0005t0001g0214 a0001c0005t0001g0216 a0001c0005t0009g0210 a0001c0007t0001g0123 a0001c0007t0001g0139 a0001c0007t0002g0120 a0001c0007t0003g0036 a0001c0007t0003g0085 a0001c0007t0003g0119 a0001c0007t0006g0122 a0001c0008t0001g0045 a0001c0008t0001g0171 a0001c0008t0001g0181 a0001c0010t0004g0065 a0001c0016t0001g0082 a0002c0014t0001g0071 a0003c0012t0008g0137	131	374	0.3503	-23	c.773 others(38): Show c.773-468_773-446delTGCAGGGAGCAGGGAGCAGGGCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20776621	GGGTTTCA others(16): Show GGGTTTCACCGTGTTAGCTAGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02717.hp2 others(4): Show HG01884.hp2 HG02280.hp2 HG02717.hp2 HG02922.hp1 HG03130.hp1 HG03486.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0211 others(4): Show a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0246	7	348	0.0201	-23	c.-27 others(34): Show c.-2743_-2721delACCCTAGCTAACACGGTGAAACC	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding		2661		chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124795595	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	358	0.0028	-23	c.-37 others(34): Show c.-3785_-3763delAAAAAAAAAAAAAAAAAAAAAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding		3709		chr10	TogoVar
EEF2_chr19_3971056_3990463	3976212	TAAACCTC others(16): Show TAAACCTCTTAATGCGTTTGTTAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0090 a0001c0001t0010g0090	1	403	0.0025	-23	c.31 others(32): Show c.319_*341delTTAACAAACGCATTAAGAGGTTT	EEF2	ENSG00000167658.16	transcript	ENST00000309311.7	protein_coding	15/15	319		chr19	TogoVar
EEIG1_chr9_127935582_127985989	127965106	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03041.hp2 HG03225.hp2 others(2): Show HG02965.hp2 HG03041.hp2 HG03225.hp2 HG03579.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0028 a0001c0005t0008 a0001c0002t0002 a0001c0002t0028 a0001c0005t0008	a0001c0002t0002g0062 a0001c0002t0028g0112 a0001c0005t0008g0110 others(2): Show a0001c0002t0002g0062 a0001c0002t0028g0112 a0001c0005t0008g0110 a0001c0005t0008g0111 a0001c0005t0008g0113	5	342	0.0146	-23	c.147 others(42): Show c.147-11204_147-11182delTTTTTTTTTTTTTTTTTTTTTTT	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EFCAB11_chr14_89789669_89959730	89857991	GACCCTGG others(16): Show GACCCTGGACAAAGCATCTAAGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0231 a0001c0001t0007g0231	1	284	0.0035	-23	c.411 others(42): Show c.411-60690_411-60668delACCTTAGATGCTTTGTCCAGGGT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89888687	ATATCAAG others(16): Show ATATCAAGGACACATTTAGAAGGT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0113 a0001c0001t0005g0113	1	284	0.0035	-23	c.410 others(42): Show c.410+42831_410+42853delACCTTCTAAATGTGTCCTTGATA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB6_chr22_43523778_43817305	43705028	GATGAAAA others(16): Show GATGAAAAAAGATATTCCATGCAA	G G	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18974.hp2 NA18961.hp1 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0229 a0003c0003t0001g0231 a0003c0003t0001g0229 a0003c0003t0001g0231	2	290	0.0069	-23	c.103 others(42): Show c.1031+6424_1031+6446delTTGCATGGAATATCTTTTTTCAT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	10/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63571495	GAAACCCC others(16): Show GAAACCCCATCTCTACAAAAATAC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0212 a0006c0008t0001g0212	1	374	0.0027	-23	c.181 others(40): Show c.1815+371_1815+393delCCCCATCTCTACAAAAATACAAA	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02004.hp2 HG02148.hp1 others(10): Show HG01106.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02698.hp1 HG03831.hp1 NA18522.hp1 NA18943.hp1 NA18957.hp2 NA18974.hp1 NA19007.hp1 NA19091.hp1 NA20129.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0013	a0001c0001 a0002c0002 a0002c0008 others(2): Show a0001c0001 a0002c0002 a0002c0008 a0003c0003 a0013c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0002 a0002c0008t0004 a0003c0003t0002 a0013c0014t0023	a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0006g0005 a0002c0002t0002g0190 a0002c0008t0004g0128 a0003c0003t0002g0057 a0013c0014t0023g0191	13	221	0.0588	-23	c.607 others(40): Show c.607-1175_607-1153delTTTTTTTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EGLN1_chr1_231358756_231427287	231359048	AATAAATT others(16): Show AATAAATTATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	338	0.0030	-23	c.73 others(34): Show c.7340_*7362delATATATATATATATATAATTTAT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4707		chr1	TogoVar
EGLN1_chr1_231358756_231427287	231359052	AATTATAT others(16): Show AATTATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0066 a0002c0002t0002g0066	1	338	0.0030	-23	c.73 others(34): Show c.7336_*7358delATATATATATATATATATATAAT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4703		chr1	TogoVar
EIF2AK2_chr2_37094210_37161980	37161297	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	326	0.0031	-23	c.-45 others(34): Show c.-4596_-4574delTTTCTTTCTTTCTTTCTTTCTTT	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		4318		chr2	TogoVar
EIF2B3_chr1_44845522_44991595	44973464	AAGGTGGG others(16): Show AAGGTGGGCAGATCACTTGAGGCC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0108 a0001c0001t0002g0108	1	322	0.0031	-23	c.294 others(40): Show c.294+4828_294+4850delGGCCTCAAGTGATCTGCCCACCT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF3F_chr11_7982337_8006852	7988003	TATGCCAG others(16): Show TATGCCAGTGGTTTACATTTTACA	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	394	0.0025	-23	c.364 others(38): Show c.364+288_364+310delATGCCAGTGGTTTACATTTTACA	EIF3F	ENSG00000175390.15	transcript	ENST00000651655.1	protein_coding	1/7			chr11	TogoVar
EIF4E3_chr3_71670414_71730402	71714283	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAACG	A A	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0330 a0001c0001t0076g0330	1	398	0.0025	-23	c.177 others(40): Show c.177-3822_177-3800delCGTTCCTTCCTTCCTTCCTTCCT	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	1/6			chr3	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31486030	TGAGGTCA others(16): Show TGAGGTCAGGAGTTCGAGACCAGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01993.hp1 HG02717.hp1 others(4): Show HG00738.hp2 HG01993.hp1 HG02717.hp1 HG02818.hp1 HG03139.hp2 HG03710.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0212 a0001c0001t0001g0250 a0001c0001t0001g0251 others(4): Show a0001c0001t0001g0212 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0258 a0001c0003t0001g0253	7	366	0.0191	-23	c.96+ others(38): Show c.96+2570_96+2592delGCTGGTCTCGAACTCCTGACCTC	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	2/18			chr22	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03098.hp1 HG04199.hp2 others(4): Show HG01943.hp2 HG03098.hp1 HG04199.hp2 NA18939.hp1 NA18943.hp2 NA19011.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0040 a0001c0001t0001g0110 a0001c0001t0001g0116 others(4): Show a0001c0001t0001g0040 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0136 a0001c0001t0001g0173 a0001c0001t0001g0219 a0001c0001t0005g0040	7	374	0.0187	-23	c.60- others(36): Show c.60-793_60-771delTTTTTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3269398	CATCGCAC others(16): Show CATCGCACTCAATCATCGCACTCA	C C	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	250	0.0040	-23	c.260 others(42): Show c.260-11966_260-11944delTGAGTGCGATGATTGAGTGCGAT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3287269	ATTCACCA others(16): Show ATTCACCACACTCCAGAAAGCTCG	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	250	0.0040	-23	c.260 others(42): Show c.260-29837_260-29815delCGAGCTTTCTGGAGTGTGGTGAA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3287805	TAGAAAGC others(16): Show TAGAAAGCTCATTCACCATGCTCC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0076 a0001c0001t0008g0076	1	250	0.0040	-23	c.260 others(42): Show c.260-30373_260-30351delGGAGCATGGTGAATGAGCTTTCT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELANE_chr19_847303_861243	852730	CGATCCCG others(16): Show CGATCCCGTGGGTTCCCGGTGGGG	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG03098.hp1 others(4): Show HG01074.hp2 HG01243.hp2 HG03098.hp1 HG04199.hp1 NA18985.hp1 NA19068.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(4): Show a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0012t0001g0044	7	403	0.0174	-23	c.68- others(35): Show c.68-107_68-85delCGGTGGGGGATCCCGTGGGTTCC	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00609.hp2 HG01099.hp1 others(36): Show HG00280.hp2 HG00609.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp1 HG01978.hp1 HG02004.hp2 HG02027.hp1 HG02615.hp1 HG02970.hp1 HG03139.hp2 HG03453.hp1 HG03516.hp2 HG03669.hp1 HG04204.hp2 NA18747.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18979.hp1 NA18995.hp1 NA19043.hp1 NA19060.hp1 NA19062.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0067 others(36): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0259 a0001c0001t0001g0272 a0001c0001t0001g0305 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0340 a0001c0001t0001g0342 a0001c0001t0002g0036 a0001c0001t0003g0156 a0001c0001t0004g0307 a0001c0001t0006g0123	39	352	0.1108	-23	c.713 others(40): Show c.713+1544_713+1566delAAAAAAAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar

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