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
EHMT1_chr9_137614005_137841127	137781241	G G	GCTGAGAT others(20): Show GCTGAGATGTGTGGTGATGACGGCATCA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp2 others(11): Show HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 others(11): Show a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	14	164	0.0854	27	c.227 others(46): Show c.2276-1047_2276-1046insAGATGTGTGGTGATGACGGCATCACT G	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF1AX_chrX_20119525_20146838	20122369	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	9	0.1111	27	c.59 others(38): Show c.5936_*5937insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF1AX	ENSG00000173674.11	transcript	ENST00000379607.10	protein_coding		2155		chrX	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18946.hp1 NA18940.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0032 a0001c0001t0002g0033	2	130	0.0154	27	c.119 others(44): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0186 a0001c0002t0001g0186	1	111	0.0090	27	c.295 others(42): Show c.295-753_295-752insAAAAAAATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(20): Show ATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	111	0.0090	27	c.295 others(42): Show c.295-753_295-752insAAAAAAAAAAATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18906.hp1 NA19082.hp1 HG01175.hp2 NA18906.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069	3	27	0.1111	27	c.-10 others(44): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2B5_chr3_184130358_184150311	184131416	A A	ATGAACCT others(20): Show ATGAACCTTGAGGACATTATGCTAAGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	424	0.0024	27	c.-39 others(38): Show c.-3970_-3969insTGAACCTTGAGGACATTATGCTAAGTG	EIF2B5	ENSG00000145191.15	transcript	ENST00000648915.2	protein_coding		3941		chr3	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0005 a0001c0001t0007g0253 a0001c0001t0007g0005 a0001c0001t0007g0253	3	67	0.0448	27	c.290 others(44): Show c.290-7774_290-7773insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	308	0.0032	27	c.40 others(36): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	57	0.0175	27	c.580 others(44): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53023437	T T	TGGCCAGG others(20): Show TGGCCAGGATAGTCTTGATCTCTTGACC	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0283 a0001c0002t0004g0283	1	370	0.0027	27	c.667 others(42): Show c.667+811_667+837dupGGCCAGGATAGTCTTGATCTCTTGACC	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18991.hp1 NA19010.hp1 HG01978.hp1 NA18991.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0047 a0001c0001t0001g0083 a0001c0001t0001g0084	3	32	0.0938	27	c.979 others(44): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 NA18522.hp1 NA19030.hp2 HG02970.hp2 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0013 a0001c0005t0005 a0001c0005t0013	a0001c0005t0005g0013 a0001c0005t0013g0271 a0001c0005t0005g0013 a0001c0005t0013g0271	3	38	0.0789	27	c.22 others(38): Show c.2202_*2203insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding		211		chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0297 a0001c0003t0001g0297	1	195	0.0051	27	c.299 others(42): Show c.299-733_299-732insATATATATATATATATATATTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0277 a0001c0001t0011g0277	1	86	0.0116	27	c.300 others(46): Show c.3007-1047_3007-1046insTTTTTTTTTTTTTTTTTTTTTTTTTT T	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20981555	C C	CATACATG others(20): Show CATACATGTATACGCACATACTGTATGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0275 a0001c0001t0021g0275	1	100	0.0100	27	c.199 others(42): Show c.199-329_199-328insACATACAGTATGTGCGTATACATGTAT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	8/36			chr1	TogoVar
EIF5A2_chr3_170883418_170913637	170893169	A A	AAAAAATT others(20): Show AAAAAATTATACATATTGATAATTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01069.hp1 HG01071.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0021 a0001c0001t0020g0021	3	392	0.0077	27	c.16 others(36): Show c.164_*190dupAAAAAATTATCAATATGTATAATTTTT	EIF5A2	ENSG00000163577.8	transcript	ENST00000295822.7	protein_coding	5/5	190		chr3	TogoVar
EIPR1_chr2_3183970_3382818	3294995	A A	ACACCCTC others(20): Show ACACCCTCCATCCAGCCCATCCTCTCTC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03098.hp1 HG01106.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0002g0013 a0001c0001t0001g0011 a0001c0001t0002g0013	2	99	0.0202	27	c.260 others(46): Show c.260-37541_260-37540insGAGAGAGGATGGGCTGGATGGAGGGT G	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0100 a0002c0006t0011g0100	1	38	0.0263	27	c.154 others(46): Show c.154-17832_154-17831insATATATATATTTTTTTTTTTTTTTTT T	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	39	0.0256	27	c.230 others(44): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCA others(20): Show TCCAGTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	69	0.0145	27	c.238 others(46): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGACTG G	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(20): Show TCCAGTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18955.hp1 NA19085.hp1 others(1): Show HG01074.hp2 NA18955.hp1 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0270 a0001c0001t0001g0320 others(1): Show a0001c0001t0001g0232 a0001c0001t0001g0270 a0001c0001t0001g0320 a0001c0001t0001g0321	4	72	0.0556	27	c.238 others(46): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGAGACTG G	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELFN1_chr7_1665277_1752946	1707005	C C	CAACACAC others(20): Show CAACACACGTACACGTGTACACATGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0032 a0009c0015t0032	a0009c0015t0032g0190 a0009c0015t0032g0190	1	300	0.0033	27	c.-45 others(46): Show c.-455-2085_-455-2059dupAACACACGTACACGTGTACACATGTG T	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	106	0.0094	27	c.870 others(44): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37060878	G G	GCACAGAG others(20): Show GCACAGAGGGGAGAGGGGAGGACAGAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02559.hp1 HG03195.hp2 others(1): Show HG00741.hp2 HG02559.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002	a0001c0002t0001g0010 a0001c0002t0002g0033 a0001c0002t0003g0077 others(1): Show a0001c0002t0001g0010 a0001c0002t0002g0033 a0001c0002t0003g0077 a0001c0003t0002g0050	4	90	0.0444	27	c.130 others(48): Show c.1300+35714_1300+35740dupTCTCTGTCCTCCCCTCTCCCCTCT GTG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	15/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(20): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	72	0.0139	27	c.-47 others(38): Show c.-4772_-4771insACACACACACACACACACACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(20): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp2 HG03710.hp1 HG03490.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0057 a0001c0001t0003g0063 a0001c0001t0003g0057 a0001c0001t0003g0063	2	73	0.0274	27	c.-47 others(38): Show c.-4772_-4771insACACACACACACACACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(20): Show GGGGCGGGTGTGTGTGTGTGTGTGGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	72	0.0139	27	c.-47 others(38): Show c.-4772_-4771insACACCACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD3_chr2_85349769_85396748	85364825	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0072 a0005c0005t0002g0072	1	225	0.0044	27	c.199 others(44): Show c.199+1660_199+1661insATATATATATATATATATATATATATT	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELMOD3_chr2_85349769_85396748	85364825	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	225	0.0044	27	c.199 others(44): Show c.199+1660_199+1661insATATATATATATATTTTTTTTTTTTTT	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELOA_chr1_23738471_23767059	23758251	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0035 a0002c0003t0001g0035	1	305	0.0033	27	c.225 others(46): Show c.2257+1129_2257+1130insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	231	0.0043	27	c.3+7 others(38): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTG	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL2_chr6_10975759_11049305	11043471	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp2 HG02723.hp1 others(4): Show HG00735.hp2 HG01243.hp2 HG02723.hp1 HG02896.hp2 HG02965.hp2 HG03453.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 others(4): Show a0001c0001t0006g0023 a0001c0001t0006g0024 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0001t0006g0028 a0001c0001t0006g0029	7	248	0.0282	27	c.3+7 others(38): Show c.3+756_3+757insTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306319	G G	GGGGAGAG others(20): Show GGGGAGAGGGGAGAGGGGAGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03942.hp1 HG03669.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0211 a0001c0001t0001g0214	2	286	0.0070	27	c.-8- others(44): Show c.-8-10639_-8-10613dupTCTCCCCTCTCCCCTCTCCCCTCTCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53306387	A A	AGAGAGGG others(20): Show AGAGAGGGGAGAGGGAGAGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG00738.hp1 others(36): Show HG00323.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp2 HG01361.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02129.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02630.hp1 HG02723.hp1 HG02735.hp2 HG02818.hp1 HG02976.hp2 HG03195.hp2 NA18946.hp2 NA19004.hp2 NA20129.hp2 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0002t0002	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 others(36): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0009g0303 a0001c0001t0009g0304 a0001c0001t0011g0192 a0001c0001t0017g0300 a0001c0002t0002g0017 a0001c0002t0002g0018	39	289	0.1349	27	c.-8- others(44): Show c.-8-10681_-8-10680insCCCTCTCCCCTCTCCCTCTCCCCTCTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084188	T T	TATATGTG others(20): Show TATATGTGATATATATGATATATATAAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19082.hp1 NA18945.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0131 a0001c0001t0003g0132	2	318	0.0063	27	c.221 others(46): Show c.221+21308_221+21309insGTTATATATATCATATATATCACATA T	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084589	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	306	0.0033	27	c.221 others(46): Show c.221+20907_221+20908insTATATATATATATATATATATATATA T	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117901	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0084 a0001c0001t0003g0084	1	285	0.0035	27	c.90- others(44): Show c.90-12274_90-12273insATATATATATATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	55	0.0182	27	c.90- others(44): Show c.90-12276_90-12275insATATATATATATATTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	55	0.0182	27	c.90- others(44): Show c.90-12276_90-12275insATATATATATATATATTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	55	0.0182	27	c.90- others(44): Show c.90-12276_90-12275insATATATATATATATATATTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03669.hp2 HG03017.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0044 a0001c0001t0003 a0001c0001t0044	a0001c0001t0003g0198 a0001c0001t0044g0199 a0001c0001t0003g0198 a0001c0001t0044g0199	2	56	0.0357	27	c.90- others(44): Show c.90-12276_90-12275insATATATATATATATATATATTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP4_chr11_31504767_31795324	31554174	T T	TAATGTAA others(20): Show TAATGTAATTTCTGATATATATCATTGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0155 a0001c0001t0014g0155	1	268	0.0037	27	c.381 others(46): Show c.381+14391_381+14392insAATGTAATTTCTGATATATATCATTG A	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9			chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01257.hp2 HG01358.hp1 others(2): Show HG01106.hp2 HG01257.hp2 HG01358.hp1 HG02451.hp2 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0080 a0001c0001t0001g0091 a0002c0002t0001g0064 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0091 a0002c0002t0001g0064 a0002c0002t0002g0156 a0002c0002t0002g0210	5	226	0.0221	27	c.35 others(38): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC2_chr8_108438624_108494196	108456332	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	349	0.0029	27	c.363 others(42): Show c.363+417_363+418insAAAAAAAAAAAAAAAAAAAAAAAAAAA	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	AGATAGAT others(20): Show AGATAGATAGATAGATAGATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0227 a0001c0001t0019g0227	1	178	0.0056	27	c.59 others(36): Show c.591_*592insAAAAATATATCTATCTATCTATCTATC	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EML1_chr14_99788413_99947060	99928027	T T	TGATGGTG others(20): Show TGATGGTGGTGATGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0105 a0001c0004t0002g0105	1	278	0.0036	27	c.190 others(46): Show c.1909+7151_1909+7152insATGGTGGTGATGGTGGTGGTGGTGGA G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGATGGT others(20): Show GTGATGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0104 a0001c0004t0003g0104	1	145	0.0069	27	c.190 others(46): Show c.1909+7343_1909+7344insATGGTGGTGGTGGTGGTGGTGGTGAT G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928218	G G	GTGGTGGT others(20): Show GTGGTGGTGGTGGTGATGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0003 a0003c0002t0003	a0003c0002t0003g0155 a0003c0002t0003g0155	1	145	0.0069	27	c.190 others(46): Show c.1909+7355_1909+7356insATGGTGGTGGTGATGGTGGTGGTGGT G	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18994.hp2 NA19030.hp2 others(1): Show NA18612.hp1 NA18994.hp2 NA19030.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0001c0001t0020 a0003c0003t0002 others(1): Show a0001c0001t0005 a0001c0001t0020 a0003c0003t0002 a0003c0003t0004	a0001c0001t0005g0315 a0001c0001t0020g0135 a0003c0003t0002g0254 others(1): Show a0001c0001t0005g0315 a0001c0001t0020g0135 a0003c0003t0002g0254 a0003c0003t0004g0247	4	50	0.0800	27	c.26- others(40): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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