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
ELOVL6_chr4_110040846_110203615	110117901	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp2 NA18949.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0059 a0001c0001t0005 a0001c0001t0059	a0001c0001t0005g0117 a0001c0001t0059g0116 a0001c0001t0005g0117 a0001c0001t0059g0116	2	286	0.0070	29	c.90- others(46): Show c.90-12274_90-12273insATATATATATATATATATATATATATAT A	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19067.hp2 HG03516.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0052 a0001c0001t0033 a0001c0001t0052	a0001c0001t0033g0043 a0001c0001t0052g0235 a0001c0001t0033g0043 a0001c0001t0052g0235	2	56	0.0357	29	c.90- others(46): Show c.90-12276_90-12275insATATATATATATATATATTTTTTTTTTT T	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	55	0.0182	29	c.90- others(46): Show c.90-12276_90-12275insATATATATATATATATATATTTTTTTTT T	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG04204.hp1 NA18949.hp1 HG03491.hp2 HG04204.hp1 NA18949.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0014 a0001c0001 a0002c0002 a0005c0014	a0001c0001t0002 a0002c0002t0001 a0005c0014t0002 a0001c0001t0002 a0002c0002t0001 a0005c0014t0002	a0001c0001t0002g0160 a0002c0002t0001g0044 a0005c0014t0002g0137 a0001c0001t0002g0160 a0002c0002t0001g0044 a0005c0014t0002g0137	3	224	0.0134	29	c.35 others(40): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472243	T T	TATGTATA others(22): Show TATGTATATATACATGTATGTGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	84	0.0119	29	c.-43 others(40): Show c.-4302_-4301insATGTATATATACATGTATGTGTATATATG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4263		chr19	TogoVar
EMILIN2_chr18_2842006_2921003	2857261	G G	GACTTTGC others(22): Show GACTTTGCAGCTTTTCCCCAACTTTTCCCA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0001 a0003c0046t0001	a0003c0046t0001g0028 a0003c0046t0001g0028	1	450	0.0022	29	c.257 others(46): Show c.257+9331_257+9359dupACTTTGCAGCTTTTCCCCAACTTTTCCC A	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML4_chr2_42164353_42337548	42325596	T T	TTATATAT others(22): Show TTATATATATATATATATATGCTATGATTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0344 a0002c0002t0002g0344	1	277	0.0036	29	c.224 others(44): Show c.2242+47_2242+48insATATATATATATATGCTATGATTATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0117 a0003c0003t0002g0117	1	25	0.0400	29	c.224 others(44): Show c.2242+48_2242+49insATATATATATATATATATATATATATATA	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22			chr2	TogoVar
EML5_chr14_88607431_88797953	88608210	T T	TACCCTGC others(22): Show TACCCTGCAAGTGAATACCATCCCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	328	0.0030	29	c.75 others(40): Show c.7579_*7607dupGAGATGGGGATGGTATTCACTTGCAGGGT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		4220		chr14	TogoVar
EML5_chr14_88607431_88797953	88796837	A A	ATATATAT others(22): Show ATATATATTATATGTATATATATTATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03017.hp1 HG04204.hp2 others(1): Show HG02683.hp2 HG03017.hp1 HG04204.hp2 NA18986.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0315 a0001c0003t0004g0316 a0001c0003t0004g0317 others(1): Show a0001c0003t0004g0315 a0001c0003t0004g0316 a0001c0003t0004g0317 a0001c0003t0004g0323	4	330	0.0121	29	c.-43 others(40): Show c.-4335_-4334insATATATAATATATATACATATAATATATA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3885		chr14	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03710.hp1 NA18522.hp2 others(3): Show HG02258.hp2 HG03710.hp1 NA18522.hp2 NA18971.hp2 NA18983.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0048 a0001c0002t0004 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0063 a0001c0001t0004g0242 a0001c0001t0048g0069 others(3): Show a0001c0001t0001g0063 a0001c0001t0004g0242 a0001c0001t0048g0069 a0001c0002t0004g0028 a0001c0005t0001g0093 a0001c0010t0001g0237	6	99	0.0606	29	c.243 others(48): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0121 a0001c0005t0003g0121	1	222	0.0045	29	c.243 others(48): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AGA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0124 a0001c0014t0003g0124	1	22	0.0455	29	c.496 others(46): Show c.4968+852_4968+853insGTTTTTTTTTGTTTTTTTTTTTTTTTTT T	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(22): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02027.hp1 others(3): Show HG01070.hp1 HG01071.hp2 HG02027.hp1 HG02615.hp2 HG04204.hp2 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0010	a0001c0001t0001g0063 a0001c0001t0001g0207 a0001c0001t0004g0029 others(3): Show a0001c0001t0001g0063 a0001c0001t0001g0207 a0001c0001t0004g0029 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0010g0054	6	27	0.2222	29	c.496 others(46): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54975480	A A	AGGGGGGG others(22): Show AGGGGGGGGGGGGGGGGGGGGGGGGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0257 a0001c0003t0002g0257	1	262	0.0038	29	c.53 others(40): Show c.5385_*5386insGGGGGGGGGGGGGGGGGGGGGGGGCGGGG	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding		3456		chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA19088.hp1 HG01257.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0132 a0001c0001t0021g0040 a0001c0001t0001g0132 a0001c0001t0021g0040	2	4	0.5000	29	c.-61 others(46): Show c.-61+5283_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENDOV_chr17_80410167_80443086	80441170	A A	AGGCTGCG others(22): Show AGGCTGCGCTGGGCCCGCCTCACTGTAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG03139.hp1 NA21309.hp2 HG02622.hp1 HG03139.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0030 a0001c0001t0015g0068 a0001c0001t0015g0030 a0001c0001t0015g0068	3	418	0.0072	29	c.50 others(40): Show c.5027_*5028insGGCTGCGCTGGGCCCGCCTCACTGTAGGG	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding		3085		chr17	TogoVar
ENG_chr9_127810016_127859658	127843755	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0338 a0001c0001t0012g0338	1	125	0.0080	29	c.68- others(42): Show c.68-511_68-510insATATATATATATATATATATATATATATA	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	1/14			chr9	TogoVar
ENKUR_chr10_24976985_25021158	24997807	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0246 a0001c0001t0004g0246	1	331	0.0030	29	c.223 others(46): Show c.223+1593_223+1594insTATATATATATATATATATATATATATA T	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	2/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	666891	A A	AGATGGTG others(22): Show AGATGGTGATGGTGATGGAGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	370	0.0027	29	c.74 others(40): Show c.7413_*7414insCCATCACCATCTCCATCACCATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3426		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43541173	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19240.hp2 HG02257.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0025 a0001c0001t0003 a0001c0001t0025	a0001c0001t0003g0123 a0001c0001t0025g0125 a0001c0001t0003g0123 a0001c0001t0025g0125	2	10	0.2000	29	c.-21 others(50): Show c.-218-57022_-218-57021insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENPP2_chr8_119552086_119643839	119573407	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0323 a0002c0007t0001g0323	1	334	0.0030	29	c.178 others(48): Show c.1781-2567_1781-2566insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ENPP2	ENSG00000136960.13	transcript	ENST00000075322.11	protein_coding	19/24			chr8	TogoVar
ENSA_chr1_150617125_150634612	150617280	C C	CACACAAC others(22): Show CACACAACTCCCAACCCCCCACTCACAAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	420	0.0024	29	c.55 others(40): Show c.5563_*5564insACTTGTGAGTGGGGGGTTGGGAGTTGTGT	ENSA	ENSG00000143420.19	transcript	ENST00000369014.10	protein_coding		4844		chr1	TogoVar
ENTREP2_chr15_29115252_29575979	29478020	T T	TATATATA others(22): Show TATATATATATATTTTTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03453.hp1 HG02451.hp2 HG03453.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0005 a0001c0008 a0002c0005	a0001c0008t0007 a0002c0005t0005 a0001c0008t0007 a0002c0005t0005	a0001c0008t0007g0065 a0002c0005t0005g0095 a0001c0008t0007g0065 a0002c0005t0005g0095	2	121	0.0165	29	c.219 others(48): Show c.219+92484_219+92485insTATATATATATATAAAAATATATATA TAT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(22): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA18973.hp2 NA19082.hp1 HG01346.hp1 NA18973.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0003g0355 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0003g0355	3	48	0.0625	29	c.705 others(46): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAGAA A	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	46	0.0217	29	c.705 others(46): Show c.705+1036_705+1064dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	20	0.0500	29	c.-14 others(48): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	152	0.0066	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC C	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	152	0.0066	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACCC C	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	152	0.0066	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACCCCC C	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp2 NA19091.hp1 NA19062.hp2 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0152 a0001c0003t0002g0156 a0001c0003t0002g0152 a0001c0003t0002g0156	2	275	0.0073	29	c.-8+ others(46): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC A	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20			chr1	TogoVar
EPC2_chr2_148639751_148792569	148774622	T T	TTATATTA others(22): Show TTATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18959.hp1 NA18964.hp2 others(2): Show NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18973.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0058 a0001c0001t0002g0102 a0001c0001t0002g0115 others(2): Show a0001c0001t0002g0058 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0002g0128 a0001c0001t0003g0108	5	214	0.0234	29	c.172 others(48): Show c.1720+3236_1720+3237insATATTATATATATATATATATATATA TAT	EPC2	ENSG00000135999.12	transcript	ENST00000258484.11	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02135.hp1 HG03831.hp2 others(1): Show HG01981.hp1 HG02135.hp1 HG03831.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0161 a0001c0001t0002g0184 a0001c0002t0001g0126 others(1): Show a0001c0001t0001g0161 a0001c0001t0002g0184 a0001c0002t0001g0126 a0001c0002t0001g0175	4	8	0.5000	29	c.270 others(48): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA5_chr4_65314567_65675489	65576112	A A	AAAAGAAA others(22): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0177	1	231	0.0043	29	c.910 others(48): Show c.910+25528_910+25529insCTTTTCTTTTCTTTTCTTTTCTTTTC TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAAAA others(22): Show GAAAAAAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00609.hp1 others(10): Show HG00099.hp2 HG00280.hp2 HG00609.hp1 HG02135.hp1 HG02280.hp1 HG02280.hp2 HG02572.hp2 NA19011.hp2 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19083.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(7): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0015 a0001c0001t0019 a0001c0001t0023 a0001c0002t0002 a0001c0002t0048 a0001c0002t0051	a0001c0001t0004g0017 a0001c0001t0005g0229 a0001c0001t0007g0170 others(10): Show a0001c0001t0004g0017 a0001c0001t0005g0229 a0001c0001t0007g0170 a0001c0001t0011g0184 a0001c0001t0011g0198 a0001c0001t0011g0200 a0001c0001t0015g0207 a0001c0001t0019g0104 a0001c0001t0023g0195 a0001c0002t0002g0193 a0001c0002t0002g0202 a0001c0002t0048g0226 a0001c0002t0051g0230	13	85	0.1529	29	c.910 others(48): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTTT TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576113	G G	GAAAAGAA others(22): Show GAAAAGAAGAAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0175 a0001c0001t0007g0175	1	73	0.0137	29	c.910 others(48): Show c.910+25527_910+25528insTCTTTTCTTTTCTTTTCTTTTCTTCT TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576115	A A	AAAAAAGA others(22): Show AAAAAAGAAAAGAAAAGAAAAGAAAAGAAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0224 a0001c0001t0007g0224	1	142	0.0070	29	c.910 others(48): Show c.910+25525_910+25526insCTTCTTTTCTTTTCTTTTCTTTTCTT TTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHB1_chr3_134790260_135265467	134984559	T T	TAGAGAGG others(22): Show TAGAGAGGGAAGGGCCCTCACCTGGGCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02572.hp1 HG02809.hp2 others(8): Show HG01243.hp2 HG02572.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp2 HG06807.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0007 a0001c0004t0001 a0001c0004t0002 a0001c0004t0009 a0001c0004t0014 a0001c0008t0008	a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0002g0084 others(8): Show a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0002g0084 a0001c0003t0003g0006 a0001c0003t0004g0108 a0001c0003t0007g0031 a0001c0004t0001g0022 a0001c0004t0002g0093 a0001c0004t0009g0023 a0001c0004t0014g0018 a0001c0008t0008g0024	11	128	0.0859	29	c.805 others(48): Show c.805+32585_805+32613dupCCTGGGCCCCAGAGAGGGAAGGGCCC TCA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX1_chr1_225805124_225850563	225810250	T T	TGGGCGGC others(22): Show TGGGCGGCGGGCCGGGGCGCCGAGGGGTCG	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0279 a0002c0006t0001g0279	1	420	0.0024	29	c.-6+ others(41): Show c.-6+86_-6+114dupGGCGGGCCGGGGCGCCGAGGGGTCGGGGC	EPHX1	ENSG00000143819.13	transcript	ENST00000272167.10	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPN2_chr17_19232366_19341715	19318549	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	42	0.0238	29	c.114 others(48): Show c.1147+5288_1147+5289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPOR_chr19_11372207_11389314	11376816	T T	TCACTACG others(22): Show TCACTACGCACTAATGTCACTCCAGCTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	402	0.0025	29	c.11 others(40): Show c.1167_*1168insCATAGCTGGAGTGACATTAGTGCGTAGTG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		390		chr19	TogoVar
EPPK1_chr8_143852324_143883467	143878393	T T	TGCCCGCA others(22): Show TGCCCGCACCCGCCCGCACCCGCCGCACCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0028 a0028	a0028c0018 a0028c0018	a0028c0018t0001 a0028c0018t0001	a0028c0018t0001g0017 a0028c0018t0001g0017	1	422	0.0024	29	c.-46 others(42): Show c.-46+44_-46+45insGGGTGCGGCGGGTGCGGGCGGGTGCGGGC	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPPK1_chr8_143852324_143883467	143878404	G G	GCCGCACC others(22): Show GCCGCACCTGCCCGCACCCGCCGCACCTGC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02027.hp1 HG02602.hp1 others(10): Show HG01934.hp1 HG02027.hp1 HG02602.hp1 HG03831.hp2 NA18970.hp2 NA18978.hp1 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA19011.hp2 NA19085.hp2 NA19089.hp1 NA19089.hp2	a0004 a0006 a0009 others(7): Show a0004 a0006 a0009 a0023 a0026 a0048 a0080 a0128 a0150 a0162	a0004c0005 a0006c0009 a0009c0083 others(7): Show a0004c0005 a0006c0009 a0009c0083 a0023c0036 a0026c0035 a0048c0030 a0080c0066 a0128c0235 a0150c0228 a0162c0199	a0004c0005t0002 a0004c0005t0024 a0006c0009t0002 others(8): Show a0004c0005t0002 a0004c0005t0024 a0006c0009t0002 a0009c0083t0005 a0023c0036t0002 a0026c0035t0002 a0048c0030t0006 a0080c0066t0018 a0128c0235t0002 a0150c0228t0007 a0162c0199t0002	a0004c0005t0002g0036 a0004c0005t0024g0287 a0006c0009t0002g0280 others(9): Show a0004c0005t0002g0036 a0004c0005t0024g0287 a0006c0009t0002g0280 a0009c0083t0005g0278 a0023c0036t0002g0283 a0023c0036t0002g0285 a0026c0035t0002g0279 a0048c0030t0006g0277 a0080c0066t0018g0284 a0128c0235t0002g0281 a0150c0228t0007g0286 a0162c0199t0002g0282	13	355	0.0366	29	c.-46 others(42): Show c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
ERBB4_chr2_211370717_212543802	212206589	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0017 a0001c0001t0003g0017	1	21	0.0476	29	c.83- others(46): Show c.83-81687_83-81686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212345265	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02717.hp1 HG03239.hp2 others(1): Show HG01192.hp1 HG02717.hp1 HG03239.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0020 a0002c0003t0001	a0001c0001t0007g0018 a0001c0001t0008g0013 a0001c0001t0020g0028 others(1): Show a0001c0001t0007g0018 a0001c0001t0008g0013 a0001c0001t0020g0028 a0002c0003t0001g0014	4	23	0.1739	29	c.82+ others(48): Show c.82+193183_82+193184insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1196806	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA20805.hp2 HG01361.hp2 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0005 a0009c0009t0012 a0001c0001t0005 a0009c0009t0012	a0001c0001t0005g0111 a0009c0009t0012g0110 a0001c0001t0005g0111 a0009c0009t0012g0110	2	123	0.0163	29	c.235 others(48): Show c.2351+6754_2351+6755insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18			chr12	TogoVar
ERC2_chr3_55503311_56473467	55553011	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0017 a0001c0002t0001g0042 a0001c0002t0001g0017 a0001c0002t0001g0042	2	6	0.3333	29	c.40 others(48): Show c.40-41736_*40-41735insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	17/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45346838	C C	CCCTCCTT others(22): Show CCCTCCTTAGAATCCCACAGTCCCCAAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00544.hp1 others(163): Show HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp1 HG02647.hp2 HG02735.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0007 a0008 a0012 a0014	a0001c0001 a0001c0002 a0001c0009 others(10): Show a0001c0001 a0001c0002 a0001c0009 a0001c0010 a0001c0016 a0001c0020 a0001c0025 a0004c0004 a0005c0011 a0007c0028 a0008c0021 a0012c0024 a0014c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0002t0001 a0001c0002t0030 a0001c0009t0001 a0001c0010t0001 a0001c0016t0001 a0001c0020t0001 a0001c0025t0001 a0004c0004t0001 a0005c0011t0001 a0007c0028t0001 a0008c0021t0001 a0012c0024t0001 a0014c0023t0001	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(110): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0004g0063 a0001c0001t0007g0035 a0001c0001t0007g0103 a0001c0001t0007g0268 a0001c0001t0011g0092 a0001c0001t0011g0277 a0001c0001t0016g0090 a0001c0001t0029g0116 a0001c0001t0031g0060 a0001c0001t0039g0278 a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0238 a0001c0002t0001g0247 a0001c0002t0001g0258 a0001c0002t0030g0235 a0001c0009t0001g0027 a0001c0010t0001g0127 a0001c0010t0001g0131 a0001c0016t0001g0139 a0001c0020t0001g0191 a0001c0025t0001g0276 a0004c0004t0001g0151 a0004c0004t0001g0156 a0004c0004t0001g0187 a0004c0004t0001g0192 a0005c0011t0001g0052 a0007c0028t0001g0197 a0008c0021t0001g0129 a0012c0024t0001g0098 a0014c0023t0001g0124	166	409	0.4059	29	c.47 others(40): Show c.4762_*4790dupATCTTGGGGACTGTGGGATTCTAAGGAGG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		2998		chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(22): Show CACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0225 a0004c0004t0005g0225	1	343	0.0029	29	c.788 others(44): Show c.788+585_788+586insACACACACACAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERFL_chr19_41902704_41933449	41914969	C C	CCTCCTCT others(22): Show CCTCCTCTTCCACTATCTCTGTCTCTGTCT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18906.hp2 HG02970.hp1 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0012 a0001c0002 a0004c0012	a0001c0002t0002 a0004c0012t0002 a0001c0002t0002 a0004c0012t0002	a0001c0002t0002g0115 a0004c0012t0002g0116 a0001c0002t0002g0115 a0004c0012t0002g0116	2	167	0.0120	29	c.-13 others(46): Show c.-13-2038_-13-2037insAGACAGAGACAGAGATAGTGGAAGAGGA G	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar

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