Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01106.hp2 HG02083.hp1 HG01081.hp2 HG01106.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0251 a0001c0001t0001g0269 a0001c0001t0001g0097 a0001c0001t0001g0251 a0001c0001t0001g0269	3	318	0.0094	18	c.580 others(35): Show c.580-1534_580-1517dupTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	T T	TTATTTAT others(11): Show TTATTTATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	436	0.0023	18	c.-10 others(29): Show c.-1005_-1004insTATTTATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80148858	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18952.hp2 NA18957.hp1 others(1): Show HG02083.hp1 NA18952.hp2 NA18957.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0024 a0001c0002t0007 a0001c0001t0012 a0001c0001t0024 a0001c0002t0007	a0001c0001t0012g0040 a0001c0001t0024g0073 a0001c0002t0007g0001 a0001c0001t0012g0040 a0001c0001t0024g0073 a0001c0002t0007g0001	4	420	0.0095	18	c.-18 others(29): Show c.-1898_-1897insCACACACACACACACACA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding		1731		chr17	TogoVar
EIF4B_chr12_53001456_53047215	53019437	A A	ATATATTT others(11): Show ATATATTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18939.hp1 NA18955.hp1 others(2): Show HG02083.hp2 NA18939.hp1 NA18955.hp1 NA18979.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0010 a0001c0002t0003g0316 a0001c0002t0003g0349 others(1): Show a0001c0002t0003g0010 a0001c0002t0003g0316 a0001c0002t0003g0349 a0001c0002t0003g0356	5	372	0.0134	18	c.360 others(33): Show c.360+432_360+433insATATTTTTTTTCTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53019437	A A	ATATTTTT others(11): Show ATATTTTTTTTTTCTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01099.hp1 NA18940.hp1 others(2): Show HG00423.hp2 HG01099.hp1 NA18940.hp1 NA18956.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0007 a0001c0002t0003g0271 a0001c0002t0003g0310 others(1): Show a0001c0002t0003g0007 a0001c0002t0003g0271 a0001c0002t0003g0310 a0001c0002t0003g0315	5	372	0.0134	18	c.360 others(33): Show c.360+432_360+433insATTTTTTTTTTCTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53027136	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp2 HG01099.hp2 others(20): Show HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01515.hp2 HG02027.hp2 HG02129.hp2 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG03017.hp1 HG03130.hp2 HG03491.hp1 NA18962.hp2 NA18969.hp2 NA18990.hp1 NA19005.hp2 NA19066.hp2 NA19070.hp1 NA19084.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0002c0004t0001 a0002c0004t0010	a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0051 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0258 a0001c0001t0006g0016 a0001c0001t0006g0033 a0001c0001t0006g0037 a0001c0001t0010g0144 a0001c0001t0014g0071 a0002c0004t0001g0117 a0002c0004t0010g0050	23	372	0.0618	18	c.668 others(33): Show c.668-646_668-645insTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14			chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG00735.hp1 others(19): Show HG00544.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG01261.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02273.hp2 HG02683.hp1 HG02723.hp1 HG02895.hp2 HG03516.hp2 HG04204.hp1 NA18941.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0021 a0001c0001t0029	a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0002g0004 others(18): Show a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0002g0004 a0001c0001t0002g0175 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0198 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0235 a0001c0001t0002g0243 a0001c0001t0002g0268 a0001c0001t0008g0183 a0001c0001t0021g0025 a0001c0001t0029g0196	22	372	0.0591	18	c.979 others(35): Show c.979+2233_979+2250dupTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53042425	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0312 a0001c0005t0013g0312	1	372	0.0027	18	c.22 others(29): Show c.2202_*2203insTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding		211		chr12	TogoVar
EIF4E1B_chr5_176625675_176651644	176647386	G G	GGGCGGGG others(11): Show GGGCGGGGCCCGGTCCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00609.hp1 HG00609.hp2 others(21): Show HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG01243.hp1 HG02071.hp1 HG02080.hp1 HG03486.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp2 NA18959.hp1 NA18960.hp2 NA18970.hp2 NA18983.hp1 NA19012.hp1 NA19056.hp1 NA19064.hp1 NA19074.hp2 NA19079.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0174 a0001c0001t0001g0251	24	422	0.0569	18	c.14 others(29): Show c.1406_*1407insGGCGGGGCCCGGTCCAGA	EIF4E1B	ENSG00000175766.13	transcript	ENST00000318682.11	protein_coding		743		chr5	TogoVar
EIF4E3_chr3_71670414_71730402	71686543	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02083.hp2 HG02155.hp2 HG01975.hp1 HG02083.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0064 a0001c0001t0065 a0001c0001t0005 a0001c0001t0064 a0001c0001t0065	a0001c0001t0005g0175 a0001c0001t0064g0166 a0001c0001t0065g0286 a0001c0001t0005g0175 a0001c0001t0064g0166 a0001c0001t0065g0286	3	398	0.0075	18	c.629 others(35): Show c.629-1833_629-1816dupACACACACACACACACAC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	6/6			chr3	TogoVar
EIF4E3_chr3_71670414_71730402	71729798	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01934.hp2 HG02055.hp2 others(5): Show HG01496.hp2 HG01934.hp2 HG02055.hp2 HG02897.hp2 NA18945.hp1 NA18964.hp1 NA18992.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0142 a0001c0001t0001g0173 a0001c0001t0001g0211 others(5): Show a0001c0001t0001g0142 a0001c0001t0001g0173 a0001c0001t0001g0211 a0001c0001t0001g0231 a0001c0001t0002g0177 a0001c0001t0002g0255 a0001c0001t0003g0244 a0001c0001t0004g0139	8	398	0.0201	18	c.-44 others(29): Show c.-4449_-4432dupCACACACACACACACACA	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding		4397		chr3	TogoVar
EIF4EBP1_chr8_38025534_38065365	38040866	C C	CTGTTGTT others(11): Show CTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	344	0.0029	18	c.145 others(37): Show c.145+10162_145+10179dupGTTGTTGTTGTTGTTGTT	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4EBP2_chr10_70399145_70433618	70430419	T T	TTGTGCCA others(11): Show TTGTGCCACTGCACTCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0261 a0001c0001t0007g0261	1	422	0.0024	18	c.86 others(29): Show c.8672_*8673insTGTGCCACTGCACTCCAG	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding		1802		chr10	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(11): Show AAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	366	0.0027	18	c.299 others(33): Show c.299-733_299-732insATATATATTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0114 a0001c0004t0001g0114	1	366	0.0027	18	c.299 others(33): Show c.299-733_299-732insATATATATATATTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAATA others(11): Show AAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0111 a0001c0004t0001g0115 a0001c0004t0001g0111 a0001c0004t0001g0115	2	366	0.0055	18	c.299 others(33): Show c.299-733_299-732insATATATATATATATTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	366	0.0027	18	c.299 others(33): Show c.299-733_299-732insATATATATATATATATTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G1_chr3_184309606_184340353	184320012	G G	GGAAGTTC others(11): Show GGAAGTTCCTGCGAGACCT	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0175 a0001c0001t0005g0175	1	384	0.0026	18	c.537 others(33): Show c.537+213_537+230dupAAGTTCCTGCGAGACCTG	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCCC others(11): Show TCTCCCCCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0304 a0001c0001t0008g0304	1	312	0.0032	18	c.451 others(37): Show c.4516-1527_4516-1510dupGGGGAGGGGGAGGGGGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814748	T T	TCTCCCTC others(11): Show TCTCCCTCTCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00423.hp1 others(42): Show HG00140.hp1 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00673.hp2 HG01167.hp2 HG01169.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp1 HG02135.hp1 HG02155.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02698.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp2 HG04204.hp2 NA18950.hp1 NA18955.hp2 NA18962.hp1 NA18964.hp2 NA18966.hp2 NA18975.hp1 NA18979.hp2 NA18980.hp2 NA18987.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19077.hp1 NA19090.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016	a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0139 others(42): Show a0001c0001t0001g0114 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0168 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0055 a0001c0001t0003g0027 a0001c0001t0003g0239 a0001c0001t0003g0242 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0250 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 a0001c0001t0003g0265 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0279 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0285 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0289 a0001c0001t0005g0291 a0001c0001t0005g0293 a0001c0001t0012g0298 a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0016g0035	45	312	0.1442	18	c.451 others(37): Show c.4516-1510_4516-1509insGGGGAGGGGGAGAGGGAG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(11): Show CCCCTCCCCCTCCCCCTCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02683.hp1 NA20752.hp1 HG01256.hp2 HG02683.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0058 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0058	3	312	0.0096	18	c.451 others(37): Show c.4516-1538_4516-1537insAGAGGGGGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCCC others(11): Show CCCCTCCCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02300.hp1 HG03491.hp1 others(3): Show HG02129.hp2 HG02300.hp1 HG03491.hp1 NA18965.hp2 NA18982.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 others(3): Show a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0075 a0001c0001t0013g0033 a0001c0001t0013g0034	6	312	0.0192	18	c.451 others(37): Show c.4516-1555_4516-1538dupAGAGGGAGAGGGGGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20814776	C C	CCCCTCTC others(11): Show CCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	312	0.0032	18	c.451 others(37): Show c.4516-1538_4516-1537insAGAGGGAGAGGGAGAGGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18960.hp2 NA18988.hp2 others(3): Show HG02015.hp1 NA18960.hp2 NA18988.hp2 NA19004.hp1 NA19074.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0023 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023	a0001c0001t0004g0025 a0001c0001t0004g0219 a0001c0001t0004g0225 others(3): Show a0001c0001t0004g0025 a0001c0001t0004g0219 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0010g0220 a0001c0001t0023g0029	6	312	0.0192	18	c.300 others(37): Show c.3007-1064_3007-1047dupTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	312	0.0032	18	c.-66 others(35): Show c.-66-4725_-66-4708dupTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02015.hp1 HG02109.hp2 others(3): Show HG01891.hp2 HG02015.hp1 HG02109.hp2 HG02486.hp1 HG03540.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0021 a0001c0001t0002g0010 a0001c0001t0002g0048 others(3): Show a0001c0001t0001g0021 a0001c0001t0002g0010 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0004g0219	6	312	0.0192	18	c.-19 others(39): Show c.-195-17399_-195-17382dupTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21083037	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	312	0.0032	18	c.-19 others(37): Show c.-196+6083_-196+6100dupTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21117736	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	312	0.0032	18	c.-27 others(39): Show c.-271-28541_-271-28524dupTTTTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21179906	T T	TATATATA others(11): Show TATATATATCAAGCAGCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	312	0.0032	18	c.-36 others(29): Show c.-3641_-3640insCTGCTGCTTGATATATAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding		3010		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	A A	AATTTTTT others(11): Show AATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	374	0.0027	18	c.60- others(31): Show c.60-823_60-822insATTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6			chr7	TogoVar
EIF5_chr14_103329237_103350025	103349779	T T	TAAAATAT others(11): Show TAAAATATTTTAATTATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02630.hp2 HG02451.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0039 a0001c0001t0009g0007 a0001c0001t0002g0039 a0001c0001t0009g0007	2	438	0.0046	18	c.87 others(29): Show c.8727_*8728insAAAATATTTTAATTATAA	EIF5	ENSG00000100664.11	transcript	ENST00000216554.8	protein_coding		4755		chr14	TogoVar
EIF6_chr20_35273918_35289772	35277779	C C	CGGGCTCG others(11): Show CGGGCTCGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	18	c.14 others(29): Show c.1417_*1418insCAGCCCCAGCCCGAGCCC	EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding		1138		chr20	TogoVar
EIF6_chr20_35273918_35289772	35277779	C C	CGGGCTGG others(11): Show CGGGCTGGGGCTGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	18	c.14 others(29): Show c.1400_*1417dupCAGCCCCAGCCCCAGCCC	EIF6	ENSG00000242372.9	transcript	ENST00000374450.8	protein_coding		1138		chr20	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(11): Show GCCCCCCCCCCTCCGCCCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	250	0.0040	18	c.517 others(35): Show c.517-2044_517-2043insGGGGCGGAGGGGGGGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315172	C C	CCACCATC others(11): Show CCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(64): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01346.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02572.hp1 HG02615.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03130.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03492.hp1 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp1 NA18906.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18957.hp1 NA18963.hp2 NA18995.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 others(64): Show a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0002g0044 a0001c0001t0002g0054 a0001c0001t0002g0069 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0106 a0001c0001t0002g0115 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0075 a0001c0001t0003g0117 a0001c0001t0003g0131 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0009g0248 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0004t0001g0074	67	250	0.2680	18	c.259 others(37): Show c.259+22844_259+22845insCTGTGGATGGGGATGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3319781	A A	ACCTGCGG others(11): Show ACCTGCGGGCAACACCACC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01884.hp2 HG02145.hp2 others(10): Show HG01123.hp2 HG01884.hp2 HG02145.hp2 HG02451.hp2 HG02615.hp2 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp2 HG03195.hp2 HG03540.hp2 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 others(10): Show a0001c0001t0001g0014 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0003g0234	13	250	0.0520	18	c.259 others(37): Show c.259+18218_259+18235dupGGTGGTGTTGCCCGCAGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3320033	A A	ACCTGCGG others(11): Show ACCTGCGGGCAACACCACC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00642.hp1 others(26): Show HG00140.hp1 HG00280.hp1 HG00642.hp1 HG00738.hp2 HG01099.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01978.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG03209.hp2 HG03516.hp1 HG03942.hp2 NA18747.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19005.hp1 NA19012.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0098 others(26): Show a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0213 a0001c0001t0002g0192 a0001c0001t0002g0208 a0001c0001t0003g0015 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0205 a0001c0001t0003g0207 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0003t0001g0193	29	250	0.1160	18	c.259 others(37): Show c.259+17966_259+17983dupGGTGGTGTTGCCCGCAGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3320113	G G	GCCCCTGC others(11): Show GCCCCTGCGGGCAACACCA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01192.hp1 others(16): Show HG00140.hp2 HG00408.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG02015.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03704.hp2 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(16): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0091 a0001c0002t0001g0092 a0001c0002t0002g0116 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	19	250	0.0760	18	c.259 others(37): Show c.259+17903_259+17904insTGGTGTTGCCCGCAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022551	T T	TTCCTTCC others(11): Show TTCCTTCCTTCCTTCCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0097 a0002c0002t0005g0097	1	400	0.0025	18	c.-46 others(29): Show c.-4605_-4604insGAAGGAAGGAAGGAAGGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4525		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022617	T T	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0070 a0001c0001t0032g0070	1	400	0.0025	18	c.-46 others(29): Show c.-4671_-4670insGGAAGAAAGAAAGAAAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4591		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(11): Show AGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01261.hp2 others(4): Show HG00099.hp2 HG00733.hp2 HG01261.hp2 HG02071.hp2 HG02273.hp1 HG02970.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0028 a0001c0001 a0002c0028	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0028t0001	a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0067 others(4): Show a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0067 a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0005g0057 a0002c0028t0001g0072	7	230	0.0304	18	c.-73 others(27): Show c.-733_-732insGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138570	C C	CCAGCAGC others(11): Show CCAGCAGCAGCAGCAGCAG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02258.hp1 others(17): Show HG00642.hp1 HG01884.hp1 HG02258.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp1 HG02723.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0024 a0001c0025 a0002c0003 others(7): Show a0001c0024 a0001c0025 a0002c0003 a0002c0005 a0002c0014 a0002c0016 a0002c0027 a0003c0004 a0003c0026 a0005c0012	a0001c0024t0001 a0001c0025t0037 a0002c0003t0011 others(9): Show a0001c0024t0001 a0001c0025t0037 a0002c0003t0011 a0002c0005t0006 a0002c0014t0006 a0002c0014t0033 a0002c0016t0022 a0002c0027t0030 a0003c0004t0004 a0003c0004t0028 a0003c0026t0004 a0005c0012t0007	a0001c0024t0001g0096 a0001c0025t0037g0102 a0002c0003t0011g0097 others(17): Show a0001c0024t0001g0096 a0001c0025t0037g0102 a0002c0003t0011g0097 a0002c0005t0006g0014 a0002c0005t0006g0015 a0002c0005t0006g0016 a0002c0005t0006g0060 a0002c0005t0006g0061 a0002c0014t0006g0157 a0002c0014t0033g0210 a0002c0016t0022g0076 a0002c0016t0022g0085 a0002c0027t0030g0094 a0003c0004t0004g0068 a0003c0004t0004g0071 a0003c0004t0004g0075 a0003c0004t0004g0080 a0003c0004t0028g0098 a0003c0026t0004g0077 a0005c0012t0007g0074	20	230	0.0870	18	c.154 others(37): Show c.154-23317_154-23300dupCAGCAGCAGCAGCAGCAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138834	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01109.hp2 HG02300.hp2 others(3): Show HG01071.hp2 HG01109.hp2 HG02300.hp2 HG02683.hp1 HG03225.hp2 HG04115.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0038 a0002c0003 others(2): Show a0001c0001 a0001c0038 a0002c0003 a0002c0006 a0007c0041	a0001c0001t0001 a0001c0038t0015 a0002c0003t0003 others(2): Show a0001c0001t0001 a0001c0038t0015 a0002c0003t0003 a0002c0006t0002 a0007c0041t0002	a0001c0001t0001g0204 a0001c0038t0015g0214 a0002c0003t0003g0027 others(3): Show a0001c0001t0001g0204 a0001c0038t0015g0214 a0002c0003t0003g0027 a0002c0006t0002g0134 a0002c0006t0002g0135 a0007c0041t0002g0156	6	230	0.0261	18	c.154 others(37): Show c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0122 a0002c0003t0010g0122	1	230	0.0044	18	c.154 others(37): Show c.154-17832_154-17831insATATATATTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp2 HG02630.hp1 HG03098.hp2	a0002 a0002	a0002c0006 a0002c0016 a0002c0006 a0002c0016	a0002c0006t0008 a0002c0016t0022 a0002c0006t0008 a0002c0016t0022	a0002c0006t0008g0062 a0002c0016t0022g0085 a0002c0006t0008g0062 a0002c0016t0022g0085	2	230	0.0087	18	c.154 others(37): Show c.154-17832_154-17831insATATTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	230	0.0044	18	c.154 others(37): Show c.154-17818_154-17817insTTTTTTTTTTTTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86924374	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	196	0.0051	18	c.139 others(37): Show c.1399+1136_1399+1153dupGTGTGTGTGTGTGTGTGT	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	10/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86946157	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG00639.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0009 a0001c0001t0002g0010	2	196	0.0102	18	c.507 others(35): Show c.507-1112_507-1111insTGTGTGTGTGTGTGTGTG	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	3/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	86946159	T T	TCACACAC others(11): Show TCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03195.hp2 NA19066.hp1 HG01167.hp1 HG03195.hp2 NA19066.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0005c0010 a0001c0001 a0001c0003 a0005c0010	a0001c0001t0001 a0001c0003t0004 a0005c0010t0004 a0001c0001t0001 a0001c0003t0004 a0005c0010t0004	a0001c0001t0001g0127 a0001c0003t0004g0087 a0005c0010t0004g0176 a0001c0001t0001g0127 a0001c0003t0004g0087 a0005c0010t0004g0176	3	196	0.0153	18	c.507 others(35): Show c.507-1131_507-1114dupTGTGTGTGTGTGTGTGTG	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	3/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957339	A A	AAGAGAGA others(11): Show AAGAGAGAAAGAGAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0237 a0001c0002t0004g0237	1	276	0.0036	18	c.61 others(29): Show c.6143_*6144insCTTCCTCTCTTTCTCTCT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1233		chr19	TogoVar

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