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
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(36): Show CCATATATATATATATGTGTGTATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19240.hp2 HG03130.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0029 a0001c0001t0005g0267 a0001c0001t0005g0029 a0001c0001t0005g0267	2	345	0.0058	43	c.-18 others(62): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTATATA TATATATATATATGTAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUSP14_chr17_37484891_37518498	37509104	C C	CCATATAT others(36): Show CCATATATATATATATGTGTGTATATATATATATATATGTGTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0268 a0001c0001t0005g0268	1	344	0.0029	43	c.-18 others(62): Show c.-180-1573_-180-1572insCATATATATATATATGTGTGTATATA TATATATATATGTGTAT	DUSP14	ENSG00000276023.5	transcript	ENST00000617516.5	protein_coding	1/2			chr17	TogoVar
DUXA_chr19_57149021_57172485	57165324	A A	AAATATAT others(36): Show AAATATATATATATATATATATATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	197	0.0051	43	c.25+ others(58): Show c.25+2094_25+2095insATATATATATATACATATATATATATATAT ATATATATATATT	DUXA	ENSG00000258873.3	transcript	ENST00000554048.3	protein_coding	1/5			chr19	TogoVar
DVL1_chr1_1330278_1354418	1350494	C C	CGGGGGGG others(36): Show CGGGGGGGAGTGAGGAGGGGGGCCTGGACGGGGCAGGAGCGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	342	0.0029	43	c.-14 others(54): Show c.-1430_-1429insCGTCGCTCCTGCCCCGTCCAGGCCCCCCTCCTCA CTCCCCCCC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1077		chr1	TogoVar
DYNC1I2_chr2_171682469_171755158	171742752	T T	TACAATAT others(36): Show TACAATATAGTAGATATAAAAATAAAAAAAGAAAGAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0292 a0001c0001t0004g0292	1	332	0.0030	43	c.153 others(62): Show c.1537-1297_1537-1296insACAATATAGTAGATATAAAAATAAAA AAAGAAAGAAAAAAAAG	DYNC1I2	ENSG00000077380.16	transcript	ENST00000397119.8	protein_coding	15/17			chr2	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537937	A A	ATAATTTA others(36): Show ATAATTTATATATATAATATATATATATAATTTATATATATAAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02300.hp2 HG00741.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0269 a0001c0001t0002g0266 a0001c0001t0002g0269	2	298	0.0067	43	c.739 others(58): Show c.739-834_739-833insATTATATATATAAATTATATATATATATTA TATATATAAATTA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2LI1_chr2_43769039_43815010	43807932	T T	TGGGGGGG others(36): Show TGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0080 a0003c0003t0003g0080	1	292	0.0034	43	c.994 others(60): Show c.994-1771_994-1770insGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGG	DYNC2LI1	ENSG00000138036.18	transcript	ENST00000260605.12	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	185	0.0054	43	c.75 others(52): Show c.757_*758insATATATATATATATATATATATATATATATATATAT ATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636069	A A	ATATATAT others(36): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	185	0.0054	43	c.75 others(52): Show c.757_*758insAAAAAAAAAAATATATATATATATATATATATATAT ATATATA	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		404		chr6	TogoVar
DYNLT1_chr6_158631474_158649743	158636070	T T	TATATATA others(36): Show TATATATATATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	326	0.0031	43	c.75 others(52): Show c.756_*757insTATATATATATATATATATATATATATATATATATA TATATAT	DYNLT1	ENSG00000146425.11	transcript	ENST00000367089.8	protein_coding		403		chr6	TogoVar
DYRK1A_chr21_37361773_37531358	37519748	T T	TTGTTTTT others(36): Show TTGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0271 a0001c0001t0049g0271	1	212	0.0047	43	c.72 others(54): Show c.7218_*7219insGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT TTGTTTTGT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7219	INFO_REALIGN_3_PRIME	chr21	TogoVar
EDDM13_chr19_56267748_56315454	56302595	T T	TCCCTCTT others(36): Show TCCCTCTTCCTCCCTCCCTCCTCCTCCCTTCCTTTTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	276	0.0036	43	c.423 others(58): Show c.423+508_423+509insCTCCCTCCCTCCTCCTCCCTTCCTTTTCTT CCTCCCCCTCTTC	EDDM13	ENSG00000267710.9	transcript	ENST00000649256.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
EDN2_chr1_41473775_41489683	41489196	C C	CCTGTGGG others(36): Show CCTGTGGGGTAGTTACTATAATGAGTCCCTGTTTTAACAACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	440	0.0023	43	c.-45 others(54): Show c.-4596_-4595insTATGTTGTTAAAACAGGGACTCATTATAGTAACT ACCCCACAG	EDN2	ENSG00000127129.10	transcript	ENST00000372587.5	protein_coding		4514		chr1	TogoVar
EEF1A2_chr20_63483014_63504083	63483463	G G	GGGCCCCA others(36): Show GGGCCCCACAGCCTCTCGAGGCCTCAGGAATTTTTCGGTGACGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0123 a0001c0002t0001g0123	1	372	0.0027	43	c.48 others(54): Show c.4834_*4835insACGTCACCGAAAAATTCCTGAGGCCTCGAGAGGC TGTGGGGCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		4550		chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63487025	A A	ACCTCCAC others(36): Show ACCTCCACCCCACCCTCCTCTGCATCCTCAGGGAACCTGCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	2	310	0.0065	43	c.12 others(54): Show c.1272_*1273insGTGGGCAGGTTCCCTGAGGATGCAGAGGAGGGTG GGGTGGAGG	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding		988		chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0133 a0001c0001t0003g0133	1	184	0.0054	43	c.400 others(60): Show c.400-3626_400-3625insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152936	T T	TCCCCCCC others(36): Show TCCCCCCCGCCCCCGTCTTCCCGCCCCCCGCCCCCGTCTTCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02559.hp2 others(2): Show HG01255.hp2 HG02055.hp1 HG02559.hp2 HG02723.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 others(2): Show a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0228	5	242	0.0207	43	c.-57 others(52): Show c.-572_-571insCCCCCCCGCCCCCGTCTTCCCGCCCCCCGCCCCCGT CTTCCCG	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		544		chr3	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAA others(36): Show AAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	243	0.0041	43	c.107 others(58): Show c.107-670_107-669insATATATATATATATATATATATATATATAT ATATTTTTTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB8_chr20_32853923_32966845	32866851	T T	TTCTCTCT others(36): Show TTCTCTCTCTCTTTCTTTCTTTCCTTCCTTCCTTCCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0004 a0011c0009t0004	a0011c0009t0004g0252 a0011c0009t0004g0252	1	280	0.0036	43	c.43- others(56): Show c.43-708_43-666dupCTTCCTTCCTTCCTTTCTTTCTCTCTCTCTCT TTCTTTCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AAGAGAGA others(36): Show AAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0020 a0007c0008t0001g0020	1	214	0.0047	43	c.128 others(62): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908598	G G	GAGAGAGA others(36): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	167	0.0060	43	c.128 others(62): Show c.1289-2850_1289-2849insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	52	0.0192	43	c.7+4 others(56): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0298 a0001c0001t0007g0298	1	129	0.0078	43	c.119 others(60): Show c.119-1910_119-1909insATATATATATATATATATATATTTTTTT TTTTTTTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(36): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG03098.hp2 HG01433.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0186 a0001c0001t0001g0154 a0001c0001t0001g0186	2	309	0.0065	43	c.40 others(52): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0339 a0001c0003t0001g0339	1	195	0.0051	43	c.299 others(58): Show c.299-733_299-732insATATATATATATATATATATATATATATTT TTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
ELAVL1_chr19_7953573_8010641	7957388	A A	AGAAAGAA others(36): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	91	0.0110	43	c.60 others(54): Show c.6094_*6095insCTTCCTTCTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1184		chr19	TogoVar
ELF1_chr13_40926924_41024316	40955839	A A	ACCCGCCC others(36): Show ACCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCACC	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	358	0.0028	43	c.253 others(60): Show c.253+2996_253+2997insGGTGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGG	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(36): Show TCCAGTCTCACACACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18965.hp1 HG02056.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0283 a0001c0001t0001g0250 a0001c0001t0001g0283	2	70	0.0286	43	c.238 others(62): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GCGGGTGT others(36): Show GCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 NA18969.hp2 HG02965.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0189 a0001c0001t0005g0141 a0001c0001t0002g0189 a0001c0001t0005g0141	2	73	0.0274	43	c.-47 others(54): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACACCCG	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGG others(36): Show GGGCGGGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 NA19088.hp2 HG02717.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0179 a0001c0001t0002g0186	2	73	0.0274	43	c.-47 others(54): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCCCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(36): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02698.hp2 HG03927.hp1 others(3): Show HG00438.hp2 HG02698.hp2 HG03927.hp1 NA18992.hp2 NA19085.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0082 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0003g0006 a0001c0001t0003g0010 a0001c0001t0003g0059	6	77	0.0779	43	c.-47 others(54): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(36): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	72	0.0139	43	c.-47 others(54): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC ACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(36): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	72	0.0139	43	c.-47 others(54): Show c.-4772_-4771insACACACACACACACACACACACACACACACACAC CCGCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGTGTGT others(36): Show CGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	8	0.1250	43	c.-47 others(54): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC ACACACACC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(36): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	55	0.0182	43	c.90- others(60): Show c.90-12276_90-12275insATATATATATATATATATATATATATTT TTTTTTTTTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
EMC10_chr19_50471507_50495871	50491778	C C	CGAGAGAG others(36): Show CGAGAGAGAGAGTGAGAGACAGACAGCGAGAGAGAGACAGTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	349	0.0029	43	c.95 others(54): Show c.9519_*9520insGAGAGAGAGAGTGAGAGACAGACAGCGAGAGAGA GACAGTAAA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		908		chr19	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(36): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	94	0.0106	43	c.243 others(62): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54944187	A A	ATCTCTCA others(36): Show ATCTCTCAGTGGAACTTCCAACTAACAAAGCTATCTCACGGGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0243 a0001c0001t0005g0243	1	262	0.0038	43	c.400 others(62): Show c.4005-4693_4005-4651dupCTCTCAGTGGAACTTCCAACTAACAA AGCTATCTCACGGGTGT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	28/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENDOV_chr17_80410167_80443086	80436175	A A	ATTCCTGA others(36): Show ATTCCTGATCGAACGCGGTGGTGAGAGCACACGTCCTCATCTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0016 a0002c0002t0022g0016	1	163	0.0061	43	c.69 others(50): Show c.69_*70insATCTCGTTCCTGATCGAACGCGGTGGTGAGAGCACACG TCCTC	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	10/10	70	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENDOV_chr17_80410167_80443086	80436175	A A	ATTCCTGA others(36): Show ATTCCTGATCGAACGCGGTGGTGAGAGCACACGTCCTCGTCTCG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(246): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18957.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013	a0001c0001 a0001c0006 a0001c0010 others(10): Show a0001c0001 a0001c0006 a0001c0010 a0002c0002 a0004c0004 a0005c0005 a0007c0008 a0008c0009 a0009c0015 a0010c0011 a0011c0012 a0012c0014 a0013c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0006t0017 a0001c0010t0002 a0002c0002t0002 a0002c0002t0004 a0002c0002t0008 a0002c0002t0009 a0002c0002t0018 a0004c0004t0007 a0004c0004t0014 a0005c0005t0002 a0007c0008t0003 a0007c0008t0006 a0008c0009t0004 a0009c0015t0006 a0010c0011t0002 a0011c0012t0002 a0012c0014t0004 a0013c0013t0004	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 others(179): Show a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0048 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0084 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0116 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0157 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0184 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0200 a0001c0001t0002g0207 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0230 a0001c0001t0002g0234 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0002g0257 a0001c0001t0002g0268 a0001c0001t0003g0005 a0001c0001t0003g0022 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0053 a0001c0001t0003g0070 a0001c0001t0003g0078 a0001c0001t0003g0080 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0147 a0001c0001t0003g0156 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0003g0202 a0001c0001t0003g0211 a0001c0001t0003g0213 a0001c0001t0003g0231 a0001c0001t0003g0241 a0001c0001t0003g0269 a0001c0001t0004g0002 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0017 a0001c0001t0004g0019 a0001c0001t0004g0050 a0001c0001t0004g0090 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0118 a0001c0001t0004g0149 a0001c0001t0004g0163 a0001c0001t0004g0196 a0001c0001t0004g0199 a0001c0001t0004g0216 a0001c0001t0004g0239 a0001c0001t0004g0249 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0006g0004 a0001c0001t0006g0020 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0069 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0006g0089 a0001c0001t0006g0123 a0001c0001t0006g0125 a0001c0001t0006g0131 a0001c0001t0006g0137 a0001c0001t0006g0143 a0001c0001t0006g0148 a0001c0001t0006g0233 a0001c0001t0006g0235 a0001c0001t0007g0010 a0001c0001t0007g0023 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0063 a0001c0001t0007g0085 a0001c0001t0007g0110 a0001c0001t0007g0146 a0001c0001t0007g0151 a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0246 a0001c0001t0009g0198 a0001c0001t0009g0204 a0001c0001t0009g0227 a0001c0001t0013g0105 a0001c0001t0013g0130 a0001c0001t0013g0135 a0001c0001t0013g0136 a0001c0001t0014g0095 a0001c0001t0014g0271 a0001c0001t0014g0272 a0001c0001t0015g0030 a0001c0001t0015g0068 a0001c0001t0019g0054 a0001c0001t0028g0055 a0001c0001t0029g0058 a0001c0001t0030g0042 a0001c0001t0031g0106 a0001c0001t0032g0017 a0001c0006t0017g0036 a0001c0010t0002g0144 a0002c0002t0002g0016 a0002c0002t0002g0049 a0002c0002t0002g0177 a0002c0002t0002g0180 a0002c0002t0002g0183 a0002c0002t0004g0175 a0002c0002t0008g0044 a0002c0002t0008g0046 a0002c0002t0008g0169 a0002c0002t0008g0171 a0002c0002t0008g0176 a0002c0002t0008g0182 a0002c0002t0009g0170 a0002c0002t0009g0178 a0002c0002t0009g0179 a0002c0002t0009g0262 a0002c0002t0018g0047 a0004c0004t0007g0165 a0004c0004t0014g0164 a0005c0005t0002g0173 a0005c0005t0002g0260 a0007c0008t0003g0226 a0007c0008t0003g0228 a0007c0008t0006g0224 a0008c0009t0004g0133 a0009c0015t0006g0020 a0010c0011t0002g0016 a0011c0012t0002g0181 a0012c0014t0004g0209 a0013c0013t0004g0108	249	411	0.6058	43	c.64 others(51): Show c.64_*106dupGTCCTCGTCTCGTTCCTGATCGAACGCGGTGGTGAGA GCACAC	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	10/10	107	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENDOV_chr17_80410167_80443086	80436191	G G	GGTGGTGA others(36): Show GGTGGTGAGAGCACACGTCCTCGTCTCGTTCCTGATCGAACGCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01167.hp2 HG01169.hp2 others(30): Show HG00639.hp2 HG01167.hp2 HG01169.hp2 HG01884.hp1 HG02109.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0005 a0001c0001t0012 a0001c0001t0023 others(1): Show a0001c0001t0005 a0001c0001t0012 a0001c0001t0023 a0001c0006t0012	a0001c0001t0005g0003 a0001c0001t0005g0007 a0001c0001t0005g0013 others(14): Show a0001c0001t0005g0003 a0001c0001t0005g0007 a0001c0001t0005g0013 a0001c0001t0005g0029 a0001c0001t0005g0067 a0001c0001t0005g0071 a0001c0001t0005g0086 a0001c0001t0005g0087 a0001c0001t0005g0088 a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0247 a0001c0001t0005g0248 a0001c0001t0012g0061 a0001c0001t0012g0273 a0001c0001t0023g0072 a0001c0006t0012g0066	33	418	0.0789	43	c.90 others(50): Show c.90_*91insAGTGGTGAGAGCACACGTCCTCGTCTCGTTCCTGATCG AACGC	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	10/10	91	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENDOV_chr17_80410167_80443086	80436256	G G	GTCTCGTT others(36): Show GTCTCGTTCCTGATCGAACGCGGTGGTGAGAGCACACGTCCTCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp1 HG02965.hp1 HG02630.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0027 a0001c0001t0026 a0001c0001t0027	a0001c0001t0026g0064 a0001c0001t0027g0065 a0001c0001t0026g0064 a0001c0001t0027g0065	2	418	0.0048	43	c.15 others(52): Show c.155_*156insATCTCGTTCCTGATCGAACGCGGTGGTGAGAGCACA CGTCCTC	ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	10/10	156	INFO_REALIGN_3_PRIME	chr17	TogoVar
ENOSF1_chr18_665318_717630	667023	A A	AGATGGTG others(36): Show AGATGGTGATGGTGATGGTGATGGTGATGGAGATGGAGATGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	308	0.0032	43	c.72 others(54): Show c.7281_*7282insACCCATCTCCATCTCCATCACCATCACCATCACC ATCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3294		chr18	TogoVar
EPB41L5_chr2_120008077_120184119	120178346	G G	GCTGTTGT others(36): Show GCTGTTGTGGGTGTCTCAGCTCTGAGGGTCTTTGTGAGCTCCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	274	0.0036	43	c.35 others(54): Show c.3520_*3562dupCTCCCACTGTTGTGGGTGTCTCAGCTCTGAGGGT CTTTGTGAG	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	25/25	3563	INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(36): Show ACACACACACACACACACACACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	152	0.0066	43	c.-8+ others(60): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACCCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPDR1_chr7_37915640_37956936	37956243	A A	AGGAGGTG others(36): Show AGGAGGTGGGAGGAGGAGGTGGAGAAGGAGGAGTGGCGGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	85	0.0118	43	c.58 others(54): Show c.5847_*5848insGGAGGTGGGAGGAGGAGGTGGAGAAGGAGGAGTG GCGGGGGAG	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding		4308		chr7	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(36): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	50	0.0200	43	c.766 others(60): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
ERBB4_chr2_211370717_212543802	212191545	G G	GTGTTATA others(36): Show GTGTTATACATGTTATACCTGTTATATATAACACGTGTTATACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02258.hp1 HG02895.hp1 others(6): Show HG01175.hp2 HG02258.hp1 HG02895.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0026 a0001c0002t0001 a0002c0003t0001	a0001c0001t0002g0047 a0001c0001t0005g0015 a0001c0001t0011g0041 others(6): Show a0001c0001t0002g0047 a0001c0001t0005g0015 a0001c0001t0011g0041 a0001c0001t0017g0029 a0001c0001t0019g0002 a0001c0001t0020g0028 a0001c0001t0026g0052 a0001c0002t0001g0048 a0002c0003t0001g0014	9	13	0.6923	43	c.83- others(60): Show c.83-66643_83-66642insTGTATAACACGTGTTATATATAACAGGT ATAACATGTATAACA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018548	A A	ATATATTA others(36): Show ATATATTATATTATATAATATATATTATATTATATAATATATAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0192 a0002c0003t0003g0192	1	263	0.0038	43	c.534 others(60): Show c.534-2764_534-2763insTATATAATATATATTATATTATATAATA TATATTATATTATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(36): Show CATATATATATGCCTTATATGTATGCATATATATATATATGCAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01934.hp2 HG02040.hp2 others(2): Show HG00741.hp1 HG01934.hp2 HG02040.hp2 NA18962.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0003t0001 a0002c0003t0003	a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0003g0046 others(2): Show a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0003g0046 a0002c0003t0001g0039 a0002c0003t0003g0055	5	42	0.1190	43	c.256 others(64): Show c.2565-64533_2565-64532insATGCATATATATATATATGCATAC ATATAAGGCATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar

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