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
EDC3_chr15_74625558_74701024	74659487	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG03098.hp1 HG02717.hp2 HG02886.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0279 a0001c0001t0003g0273 a0001c0001t0003g0275 a0001c0001t0003g0279	3	286	0.0105	18	c.485 others(35): Show c.485-3437_485-3420dupATATATATATATATATAT	EDC3	ENSG00000179151.13	transcript	ENST00000315127.9	protein_coding	3/6			chr15	TogoVar
EDDM13_chr19_56267748_56315454	56292451	G G	GTTTTTAC others(11): Show GTTTTTACTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(65): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01169.hp2 HG01884.hp1 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02559.hp2 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp2 HG03195.hp2 HG03239.hp2 HG03486.hp1 HG03540.hp2 HG03834.hp1 NA18939.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp1 NA18968.hp2 NA18973.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18988.hp1 NA18989.hp2 NA18992.hp2 NA18993.hp1 NA19001.hp1 NA19007.hp1 NA19010.hp1 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19075.hp1 NA19081.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19088.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0007t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0032 others(56): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0089 a0001c0001t0001g0218 a0001c0001t0001g0288 a0001c0001t0001g0295 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0002g0105 a0001c0001t0003g0031 a0001c0001t0003g0213 a0001c0001t0003g0236 a0001c0001t0003g0303 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0338 a0001c0001t0003g0352 a0001c0001t0004g0308 a0001c0001t0007g0304 a0001c0007t0001g0298	68	396	0.1717	18	c.232 others(35): Show c.232+1608_232+1625dupTTTACTTTTTTTTTTTTT	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDIL3_chr5_83935554_84389880	83970256	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp1 HG01884.hp2 others(2): Show HG00140.hp1 HG00738.hp1 HG01884.hp2 HG03130.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0106 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0106 a0001c0001t0001g0142 a0001c0001t0003g0103	5	158	0.0317	18	c.113 others(37): Show c.1138-6914_1138-6897dupTATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	83970643	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	158	0.0063	18	c.113 others(37): Show c.1138-7301_1138-7284dupTATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84006103	T T	TAATAATA others(11): Show TAATAATAATAATAATAAC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	158	0.0063	18	c.113 others(39): Show c.1138-42744_1138-42743insGTTATTATTATTATTATT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84080298	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0058 a0001c0003t0001g0058	1	158	0.0063	18	c.652 others(37): Show c.652-13710_652-13693dupTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84230763	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02015.hp1 others(3): Show HG00438.hp1 HG00558.hp1 HG02015.hp1 HG02965.hp2 HG03098.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0059 a0001c0001t0002g0029 a0001c0001t0002g0092 others(3): Show a0001c0001t0001g0059 a0001c0001t0002g0029 a0001c0001t0002g0092 a0001c0001t0003g0078 a0001c0001t0004g0079 a0001c0002t0001g0102	6	158	0.0380	18	c.197 others(33): Show c.197-897_197-880dupCACACACACACACACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	158	0.0063	18	c.196 others(35): Show c.196+1573_196+1590dupTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 NA19030.hp1 HG01243.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0001g0031 a0001c0001t0001g0061	2	158	0.0127	18	c.68- others(33): Show c.68-8465_68-8448dupAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84340503	A A	ACTCTCTC others(11): Show ACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0100 a0001c0001t0013g0100	1	158	0.0063	18	c.67+ others(35): Show c.67+43787_67+43804dupAGAGAGAGAGAGAGAGAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84340534	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	158	0.0063	18	c.67+ others(35): Show c.67+43773_67+43774insTATATAGAGAGAGAGAGA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84340534	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTATA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0016 a0001c0001t0009g0016	1	158	0.0063	18	c.67+ others(35): Show c.67+43773_67+43774insTATAGAGAGAGAGAGAGA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84371319	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01515.hp1 HG00323.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0123 a0001c0001t0004g0071 a0001c0001t0001g0123 a0001c0001t0004g0071	2	158	0.0127	18	c.67+ others(35): Show c.67+12971_67+12988dupTATATATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84371341	A A	ATATATAT others(11): Show ATATATATATATATGTGTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	158	0.0063	18	c.67+ others(35): Show c.67+12966_67+12967insCACACATATATATATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02723.hp1 HG00735.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0117 a0001c0001t0008g0194 a0001c0001t0008g0117 a0001c0001t0008g0194	2	398	0.0050	18	c.365 others(35): Show c.365+4880_365+4897dupAAAAAAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20747462	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG03098.hp2 HG03139.hp2 others(1): Show HG01074.hp2 HG03098.hp2 HG03139.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0002g0020	4	348	0.0115	18	c.145 others(35): Show c.145-9675_145-9658dupAAAAAAAAAAAAAAAAAA	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4			chr13	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20764880	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18989.hp1 NA18948.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0280 a0001c0001t0001g0237 a0001c0001t0001g0280	2	348	0.0058	18	c.-19 others(35): Show c.-19-7281_-19-7264dupGTGTGTGTGTGTGTGTGT	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	1/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18974.hp2 NA18988.hp1 others(2): Show HG02015.hp2 NA18974.hp2 NA18988.hp1 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0279 others(2): Show a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0279 a0001c0001t0002g0286 a0001c0001t0002g0288	5	358	0.0140	18	c.400 others(35): Show c.400-3626_400-3625insATATTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG04228.hp1 HG01515.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0273 a0001c0001t0002g0267 a0001c0001t0002g0273	2	358	0.0056	18	c.400 others(35): Show c.400-3626_400-3625insATATATTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(11): Show TTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02155.hp2 HG02602.hp2 others(5): Show HG00609.hp2 HG02155.hp2 HG02602.hp2 HG02738.hp2 HG03225.hp1 HG03704.hp2 NA18995.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(5): Show a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0008g0164	8	358	0.0224	18	c.291 others(33): Show c.291+315_291+332dupTATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57778293	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02630.hp1 NA18980.hp2 others(2): Show HG00140.hp1 HG02630.hp1 NA18980.hp2 NA19001.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0017 a0001c0001t0002g0066 a0001c0001t0003g0017 a0001c0001t0002g0017 a0001c0001t0002g0066 a0001c0001t0003g0017	5	362	0.0138	18	c.290 others(35): Show c.290-1947_290-1946insTTTTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57778307	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00733.hp2 others(32): Show HG00438.hp2 HG00621.hp1 HG00733.hp2 HG00741.hp2 HG01168.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01952.hp2 HG02074.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02280.hp2 HG03130.hp2 HG03239.hp1 HG03688.hp2 HG04184.hp2 HG04199.hp2 NA18970.hp1 NA18980.hp1 NA18990.hp2 NA18994.hp1 NA19001.hp1 NA19012.hp2 NA19055.hp1 NA19072.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0021 others(11): Show a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0038 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0095 a0001c0002t0005g0043	35	362	0.0967	18	c.290 others(35): Show c.290-1947_290-1946insTTTTTTTTTTTTTTTTCT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
EEF1B2_chr2_206154895_206167928	206164831	A A	AAAAAACA others(11): Show AAAAAACACATGGCTGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	360	0.0028	18	c.19 others(29): Show c.1948_*1949insAAAAACACATGGCTGGAT	EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding		1904		chr2	TogoVar
EEF1G_chr11_62554596_62578891	62558986	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00673.hp1 HG01175.hp1 others(4): Show HG00609.hp1 HG00673.hp1 HG01175.hp1 HG02683.hp2 HG03130.hp1 HG03942.hp1 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0031 others(4): Show a0001c0002t0001g0005 a0001c0002t0001g0020 a0001c0002t0001g0031 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0060	7	262	0.0267	18	c.69 others(27): Show c.692_*693insTTTTTTTTTTTTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding		609		chr11	TogoVar
EEFSEC_chr3_128148481_128413646	128176981	G G	GATTATTA others(11): Show GATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	272	0.0037	18	c.316 others(37): Show c.316+23171_316+23188dupATTATTATTATTATTATT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEIG1_chr9_127935582_127985989	127985663	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	342	0.0029	18	c.-55 others(29): Show c.-5527_-5526insTATATATATATATATATA	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding		4675		chr9	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGAGAGAG others(11): Show TGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG03041.hp1 others(1): Show HG01884.hp1 HG02451.hp2 HG03041.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0071 a0001c0001t0008g0018 a0001c0001t0008g0019 others(1): Show a0001c0001t0001g0071 a0001c0001t0008g0018 a0001c0001t0008g0019 a0001c0001t0008g0028	4	272	0.0147	18	c.137 others(37): Show c.137+19214_137+19231dupGAGAGAGAGAGAGAGAGA	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGAGAG others(11): Show TGTGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	272	0.0037	18	c.137 others(37): Show c.137+19208_137+19209insTGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGAG others(11): Show TGTGTGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	272	0.0037	18	c.137 others(37): Show c.137+19208_137+19209insTGTGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(11): Show TGTGTGTGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	272	0.0037	18	c.137 others(37): Show c.137+19208_137+19209insTGTGTGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(11): Show TGTGTGTGTGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01891.hp1 HG01496.hp2 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0191 a0001c0001t0005g0166 a0001c0001t0004g0191 a0001c0001t0005g0166	2	272	0.0074	18	c.137 others(37): Show c.137+19208_137+19209insTGTGTGTGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0167 a0001c0001t0005g0167	1	272	0.0037	18	c.137 others(37): Show c.137+19208_137+19209insTGTGTGTGTGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEIG2_chr1_108555100_108644322	108579772	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGAGAGA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0237 a0001c0001t0007g0237	1	272	0.0037	18	c.137 others(37): Show c.137+19208_137+19209insTGTGTGTGTGTGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0072 a0001c0001t0023g0072	1	346	0.0029	18	c.-20 others(29): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36198337	G G	GAAAAGAA others(11): Show GAAAAGAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18994.hp1 NA19000.hp2 HG00423.hp1 NA18994.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0279 a0001c0001t0007g0016 a0001c0001t0007g0023 a0001c0001t0001g0279 a0001c0001t0007g0016 a0001c0001t0007g0023	3	346	0.0087	18	c.879 others(37): Show c.879-40644_879-40627dupAGAAAAAAAAAAAAAAAA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36198342	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0285 a0001c0001t0010g0285	1	346	0.0029	18	c.879 others(37): Show c.879-40640_879-40623dupAAAAAAAAAAAAAAGAAA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36219804	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	346	0.0029	18	c.879 others(37): Show c.879-19180_879-19179insTGTGTGTGTGTGTGTGTG	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36248994	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01934.hp1 HG02071.hp1 others(2): Show HG01516.hp1 HG01934.hp1 HG02071.hp1 HG03654.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0338 others(2): Show a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0338 a0001c0001t0002g0187 a0001c0001t0003g0122	5	346	0.0145	18	c.930 others(35): Show c.930+9982_930+9999dupCACACACACACACACACA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	428	0.0023	18	c.107 others(33): Show c.107-670_107-669insATATATATATATATATTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89835585	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 NA18971.hp2 HG02897.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0168 a0001c0002t0004g0193 a0001c0002t0002g0168 a0001c0002t0004g0193	2	284	0.0070	18	c.411 others(37): Show c.411-38279_411-38262dupACACACACACACACACAC	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB11_chr14_89789669_89959730	89881452	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp1 HG03098.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0046 a0001c0001t0030g0043 a0001c0001t0001g0046 a0001c0001t0030g0043	2	284	0.0070	18	c.410 others(37): Show c.410+50088_410+50089insATATATATATATATATAT	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47325923	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	356	0.0028	18	c.-24 others(35): Show c.-247-281_-247-264dupTATATATATATATATATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351279	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02647.hp2 NA19005.hp1 others(2): Show HG01361.hp2 HG02647.hp2 NA19005.hp1 NA19005.hp2 NA19065.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0002c0002 a0006c0007 others(1): Show a0001c0001 a0002c0002 a0006c0007 a0008c0011	a0001c0001t0001 a0002c0002t0003 a0006c0007t0001 others(1): Show a0001c0001t0001 a0002c0002t0003 a0006c0007t0001 a0008c0011t0001	a0001c0001t0001g0143 a0002c0002t0003g0055 a0006c0007t0001g0063 others(2): Show a0001c0001t0001g0143 a0002c0002t0003g0055 a0006c0007t0001g0063 a0006c0007t0001g0341 a0008c0011t0001g0049	5	356	0.0140	18	c.661 others(35): Show c.661+3337_661+3354dupTGTGTGTGTGTGTGTGTG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47351304	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0058 a0002c0002t0003g0058	1	356	0.0028	18	c.661 others(35): Show c.661+3354_661+3355insTGTGTGTGTGTGTGTGCG	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG01168.hp2 others(5): Show HG00323.hp1 HG00408.hp2 HG01168.hp2 HG01169.hp2 HG02055.hp2 HG02818.hp2 NA18957.hp1 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0005c0005t0001 a0001c0001t0001 a0005c0005t0001	a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0104 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0076 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0170 a0005c0005t0001g0074 a0005c0005t0001g0342	8	356	0.0225	18	c.249 others(37): Show c.2495-4935_2495-4918dupTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46700986	A A	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01928.hp1 HG02132.hp1 others(9): Show HG00558.hp1 HG01928.hp1 HG02132.hp1 HG03831.hp2 NA18965.hp2 NA18984.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp2 NA19006.hp2 NA19011.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0005g0098 others(6): Show a0001c0001t0005g0011 a0001c0001t0005g0028 a0001c0001t0005g0098 a0001c0001t0005g0100 a0001c0001t0005g0101 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0106	12	374	0.0321	18	c.481 others(35): Show c.481-4355_481-4338dupACACACACACACACACAC	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding	3/10			chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 NA19083.hp2 HG04115.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0013 a0001c0001t0001g0106 a0001c0001t0003g0013	2	290	0.0069	18	c.25+ others(33): Show c.25+9609_25+9626dupAAAAAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	245088315	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01496.hp2 HG02258.hp2 others(1): Show HG01261.hp1 HG01496.hp2 HG02258.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0120 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0003g0003	4	290	0.0138	18	c.95 others(27): Show c.955_*956insACACACACACACACACAC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding		479		chr1	TogoVar
EFCAB5_chr17_29936634_30113452	29970663	C C	CACACACA others(11): Show CACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02922.hp1 HG01884.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0213 a0003c0003t0002g0214 a0003c0003t0002g0213 a0003c0003t0002g0214	2	248	0.0081	18	c.767 others(35): Show c.767+1301_767+1302insCACACACACACATACACA	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	29994133	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0002 a0013c0026t0002	a0013c0026t0002g0083 a0013c0026t0002g0083	1	248	0.0040	18	c.924 others(33): Show c.924+839_924+856dupATATATATATATATATAT	EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr17	TogoVar

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