Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
EPOR_chr19_11372207_11389314	11387953	CCTCAGCT others(10): Show CCTCAGCTTCCCGAGTAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-17	c.-37 others(28): Show c.-3763_-3747delCTACTCGGGAAGCTGAG	EPOR	ENSG00000187266.14	transcript	ENST00000222139.11	protein_coding		3640		chr19	TogoVar
EPO_chr7_100715468_100728700	100718271	AGCCTGTG others(10): Show AGCCTGTGATGTGCTTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00438.hp2 others(53): Show HG00099.hp1 HG00140.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01256.hp2 HG01358.hp2 HG01981.hp2 HG02027.hp2 HG02074.hp1 HG02080.hp2 HG02132.hp2 HG02559.hp2 HG02615.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp2 HG03041.hp1 HG03130.hp2 HG03209.hp1 HG03490.hp1 HG03540.hp2 HG03831.hp1 NA18522.hp2 NA18946.hp2 NA18949.hp1 NA18970.hp2 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18982.hp1 NA19000.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19089.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0002t0001g0002	56	380	0.1474	-17	c.-27 others(28): Show c.-2709_-2693delGCCTGTGATGTGCTTCC	EPO	ENSG00000130427.3	transcript	ENST00000252723.3	protein_coding		2196		chr7	TogoVar
EPRS1_chr1_219963600_220051505	220044681	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp1 HG01496.hp2 others(44): Show HG00438.hp1 HG01346.hp1 HG01496.hp2 HG01884.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02145.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 HG03688.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18954.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp1 NA18977.hp2 NA18981.hp2 NA18990.hp2 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20129.hp2	a0001 a0012 a0018 others(1): Show a0001 a0012 a0018 a0019	a0001c0001 a0012c0016 a0018c0015 others(1): Show a0001c0001 a0012c0016 a0018c0015 a0019c0021	a0001c0001t0001 a0001c0001t0002 a0012c0016t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0012c0016t0002 a0018c0015t0002 a0019c0021t0002	a0001c0001t0001g0279 a0001c0001t0002g0234 a0001c0001t0002g0236 others(44): Show a0001c0001t0001g0279 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0317 a0012c0016t0002g0235 a0018c0015t0002g0243 a0019c0021t0002g0267	47	358	0.1313	-17	c.46+ others(32): Show c.46+1645_46+1661delTTTTTTTTTTTTTTTTT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	1/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51351488	CAGAAATT others(10): Show CAGAAATTCTGGGGCTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA19030.hp2 HG06807.hp1 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0009 a0002c0001t0022 a0002c0001t0009 a0002c0001t0022	a0002c0001t0009g0116 a0002c0001t0022g0115 a0002c0001t0009g0116 a0002c0001t0022g0115	2	152	0.0132	-17	c.51 others(28): Show c.5195_*5211delCTAGCCCCAGAATTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding		2774		chr1	TogoVar
EPS15_chr1_51349263_51524266	51508216	AAGAAAAG others(10): Show AAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01074.hp2 HG00741.hp1 HG01074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0067 a0001c0003t0001g0066 a0001c0003t0001g0067	2	152	0.0132	-17	c.33+ others(34): Show c.33+10966_33+10982delCTTTTCTTTTCTTTTCT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPS8L2_chr11_701231_732727	709155	TCAACTGG others(10): Show TCAACTGGGACGTGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01261.hp2 HG01943.hp1 others(9): Show HG00280.hp2 HG01261.hp2 HG01943.hp1 HG02258.hp1 HG02572.hp1 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0009 a0002c0010 others(2): Show a0001c0001 a0002c0009 a0002c0010 a0002c0012 a0004c0007	a0001c0001t0015 a0002c0009t0001 a0002c0009t0006 others(4): Show a0001c0001t0015 a0002c0009t0001 a0002c0009t0006 a0002c0010t0008 a0002c0012t0008 a0004c0007t0001 a0004c0007t0018	a0001c0001t0015g0287 a0002c0009t0001g0365 a0002c0009t0006g0277 others(9): Show a0001c0001t0015g0287 a0002c0009t0001g0365 a0002c0009t0006g0277 a0002c0009t0006g0278 a0002c0010t0008g0279 a0002c0010t0008g0280 a0002c0010t0008g0356 a0002c0012t0008g0358 a0004c0007t0001g0354 a0004c0007t0001g0355 a0004c0007t0001g0357 a0004c0007t0018g0276	12	406	0.0296	-17	c.-78 others(32): Show c.-78-148_-78-132delCGTGGGGCCAACTGGGA	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42942658	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00642.hp1 HG00733.hp1 others(38): Show HG00438.hp1 HG00642.hp1 HG00733.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01175.hp2 HG01192.hp1 HG01346.hp1 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02148.hp1 HG02258.hp1 HG02622.hp2 HG02683.hp1 HG02818.hp1 HG02896.hp2 HG03041.hp1 HG03490.hp1 HG03942.hp1 NA18948.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18962.hp2 NA18972.hp1 NA18986.hp1 NA19006.hp1 NA19010.hp2 NA19030.hp2 NA19067.hp2 NA19074.hp2 NA19240.hp1 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(17): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0030 a0001c0001t0034 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0023 a0001c0002t0036 a0001c0003t0038 a0001c0005t0008	a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0001t0002g0202 others(38): Show a0001c0001t0002g0184 a0001c0001t0002g0196 a0001c0001t0002g0202 a0001c0001t0002g0242 a0001c0001t0002g0245 a0001c0001t0002g0266 a0001c0001t0002g0292 a0001c0001t0002g0345 a0001c0001t0004g0132 a0001c0001t0004g0146 a0001c0001t0004g0152 a0001c0001t0004g0173 a0001c0001t0006g0329 a0001c0001t0008g0144 a0001c0001t0008g0145 a0001c0001t0012g0218 a0001c0001t0014g0344 a0001c0001t0019g0281 a0001c0001t0019g0351 a0001c0001t0021g0169 a0001c0001t0021g0170 a0001c0001t0022g0010 a0001c0001t0030g0133 a0001c0001t0034g0171 a0001c0001t0040g0143 a0001c0002t0001g0115 a0001c0002t0003g0297 a0001c0002t0003g0301 a0001c0002t0003g0342 a0001c0002t0005g0003 a0001c0002t0005g0004 a0001c0002t0005g0134 a0001c0002t0005g0149 a0001c0002t0005g0153 a0001c0002t0005g0178 a0001c0002t0005g0179 a0001c0002t0007g0310 a0001c0002t0023g0100 a0001c0002t0036g0141 a0001c0003t0038g0172 a0001c0005t0008g0013	41	352	0.1165	-17	c.563 others(36): Show c.563+11273_563+11289delAAAAAAAAAAAAAAAAA	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	6/10			chr13	TogoVar
ERBB4_chr2_211370717_212543802	211560262	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	56	0.0179	-17	c.248 others(36): Show c.2487+1624_2487+1640delAAAAAAAAAAAAAAAAA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	65965382	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0200 a0002c0003t0003g0200	1	306	0.0033	-17	c.-57 others(36): Show c.-57-23228_-57-23212delTTTTTTTTTTTTTTTTT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1099835	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0064 a0001c0001t0108g0064	1	162	0.0062	-17	c.108 others(36): Show c.1087-4899_1087-4883delTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1341069	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0089 a0002c0002t0101 a0002c0002t0089 a0002c0002t0101	a0002c0002t0089g0037 a0002c0002t0101g0056 a0002c0002t0089g0037 a0002c0002t0101g0056	2	162	0.0124	-17	c.278 others(38): Show c.2781-30738_2781-30722delTTTTTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1400908	ATTTTTGT others(10): Show ATTTTTGTATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0041 a0006c0008t0041	a0006c0008t0041g0140 a0006c0008t0041g0140	1	162	0.0062	-17	c.292 others(36): Show c.2926-7235_2926-7219delGTATTTTTTTTTTTTTT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440599	TTTGTGTG others(10): Show TTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0005 a0001c0001t0013g0005	1	162	0.0062	-17	c.302 others(36): Show c.3025-3961_3025-3945delTGTGTGTGTGTGTGTGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55691562	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	74	0.0135	-17	c.284 others(36): Show c.2848-7720_2848-7704delATATATTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55942266	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	74	0.0135	-17	c.240 others(36): Show c.2403+8142_2403+8158delAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56186114	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG02486.hp2 HG01167.hp2 HG01169.hp1 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0004 a0001c0001t0006 a0001c0002t0004	a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0004g0001 a0001c0001t0006g0026 a0001c0001t0006g0027 a0001c0002t0004g0001	3	74	0.0405	-17	c.107 others(38): Show c.1075-12611_1075-12595delTTTTTTTTTTTTTTTTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45350082	CCAGGGCA others(10): Show CCAGGGCAAGGCTTTAGG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0030 a0001c0002t0030	a0001c0002t0030g0242 a0001c0002t0030g0242	1	412	0.0024	-17	c.15 others(28): Show c.1530_*1546delCCTAAAGCCTTGCCCTG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	23/23	1530		chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526092	TATATATT others(10): Show TATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0059 a0002c0002t0004g0059	1	388	0.0026	-17	c.653 others(34): Show c.653-1332_653-1316delTAAATATATAAATATAT	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526092	TATATATT others(10): Show TATATATTTATATATTTA	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0068 a0002c0002t0002g0068	1	402	0.0025	-17	c.653 others(34): Show c.653-1332_653-1316delTAAATATATAAATATAT	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
EREG_chr4_74360145_74393749	74375040	CAATGCCA others(10): Show CAATGCCACCAGACAAGA	C C	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01167.hp1 HG01496.hp1 others(42): Show HG01123.hp1 HG01167.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG02056.hp2 HG02071.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp2 HG06807.hp1 NA18522.hp2 NA18944.hp1 NA18949.hp2 NA18957.hp1 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18978.hp1 NA18979.hp2 NA18983.hp2 NA18990.hp2 NA18998.hp2 NA19030.hp1 NA19062.hp2 NA19064.hp1 NA19068.hp2 NA19075.hp2 NA19083.hp1 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0029	a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 others(31): Show a0001c0001t0003g0009 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0033 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0046 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0229 a0001c0001t0015g0225 a0001c0001t0015g0226 a0001c0001t0016g0121 a0001c0001t0016g0201 a0001c0001t0018g0230 a0001c0001t0019g0042 a0001c0001t0020g0042 a0001c0001t0029g0123	45	358	0.1257	-17	c.68- others(32): Show c.68-4395_68-4379delCAAGAAATGCCACCAGA	EREG	ENSG00000124882.4	transcript	ENST00000244869.3	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
ERFL_chr19_41902704_41933449	41920007	ACTCACAG others(10): Show ACTCACAGACATGACGCG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	330	0.0030	-17	c.-13 others(34): Show c.-13-7092_-13-7076delCGCGTCATGTCTGTGAG	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172925164	GGAGGTGG others(10): Show GGAGGTGGAGATTGCAGT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	334	0.0030	-17	c.480 others(34): Show c.480+1059_480+1075delGTGGAGATTGCAGTGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38468985	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00558.hp2 others(43): Show HG00280.hp1 HG00408.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01069.hp2 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01243.hp1 HG01257.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02071.hp1 HG02148.hp2 HG02273.hp2 HG02698.hp1 HG02735.hp2 HG03239.hp1 HG03491.hp2 HG03669.hp1 HG03704.hp2 HG03834.hp2 HG04115.hp2 NA18940.hp2 NA18947.hp1 NA18959.hp2 NA18987.hp2 NA19011.hp1 NA19012.hp2 NA19054.hp1 NA19076.hp2 NA19078.hp1 NA19079.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0024 a0003c0005t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 others(43): Show a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0120 a0001c0001t0001g0156 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0003g0088 a0001c0001t0003g0100 a0001c0001t0003g0118 a0001c0001t0004g0008 a0001c0001t0008g0071 a0001c0001t0008g0094 a0001c0001t0010g0084 a0001c0001t0013g0093 a0001c0001t0014g0075 a0001c0001t0014g0083 a0001c0001t0021g0068 a0001c0001t0024g0092 a0003c0005t0001g0102	46	360	0.1278	-17	c.19- others(34): Show c.19-23381_19-23365delCTTTTTTTTTTTTTTTT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44342847	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0297 a0001c0001t0001g0162 a0001c0001t0001g0297	2	340	0.0059	-17	c.212 others(34): Show c.212-3542_212-3526delAAAAAAATATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342849	ATATATAT others(10): Show ATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	340	0.0029	-17	c.212 others(34): Show c.212-3544_212-3528delAAAAAAAAATATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342851	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	340	0.0029	-17	c.212 others(34): Show c.212-3546_212-3530delAAAAAAAAAAATATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342853	ATATATTT others(10): Show ATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	340	0.0029	-17	c.212 others(34): Show c.212-3548_212-3532delAAAAAAAAAAAAATATA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44355290	CGGACGGG others(10): Show CGGACGGGCGGGCGCTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	340	0.0029	-17	c.-28 others(26): Show c.-281_-265delACAGCGCCCGCCCGTCC	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding		34		chr1	TogoVar
ERICH1_chr8_659200_736224	700435	GCCCTCAC others(10): Show GCCCTCACAGGCCACAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp1 others(68): Show HG00099.hp1 HG00140.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01261.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02451.hp2 HG02738.hp2 HG02886.hp1 HG03209.hp1 HG03239.hp2 HG03669.hp1 HG03669.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18951.hp2 NA18960.hp1 NA18969.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA19002.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp2 NA19068.hp1 NA19074.hp1 NA19078.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 others(66): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0082 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0281 a0001c0001t0002g0290 a0001c0001t0003g0108 a0001c0002t0001g0014 a0001c0002t0001g0081 a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0002t0001g0102 a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0003t0001g0224 a0001c0009t0001g0234	71	378	0.1878	-17	c.170 others(34): Show c.170-7840_170-7824delTCTGTGGCCTGTGAGGG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH3_chr1_74563123_74678792	74657788	TGCATATG others(10): Show TGCATATGAGACATGGTA	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	290	0.0035	-17	c.24- others(32): Show c.24-8490_24-8474delTACCATGTCTCATATGC	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	1/14			chr1	TogoVar
ERICH3_chr1_74563123_74678792	74672752	GATATTCT others(10): Show GATATTCTCCCTTCCAAT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(96): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01168.hp1 HG01243.hp1 HG01358.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02735.hp1 HG02735.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18965.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18986.hp2 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp2 NA19083.hp2 NA19086.hp1 NA19091.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0011 a0014 a0015 a0016 a0030	a0001c0001 a0001c0008 a0002c0002 others(9): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0003c0037 a0004c0005 a0005c0004 a0011c0017 a0014c0035 a0015c0016 a0016c0019 a0030c0041	a0001c0001t0002 a0001c0001t0009 a0001c0008t0001 others(12): Show a0001c0001t0002 a0001c0001t0009 a0001c0008t0001 a0001c0008t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0037t0001 a0004c0005t0001 a0005c0004t0001 a0011c0017t0001 a0014c0035t0001 a0015c0016t0002 a0016c0019t0002 a0030c0041t0002	a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0198 others(89): Show a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0198 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0255 a0001c0001t0002g0260 a0001c0001t0002g0266 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0277 a0001c0001t0009g0244 a0001c0008t0001g0234 a0001c0008t0002g0009 a0002c0002t0001g0011 a0002c0002t0001g0219 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0003c0003t0001g0007 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0206 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0245 a0003c0003t0001g0256 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0276 a0003c0003t0002g0191 a0003c0037t0001g0192 a0004c0005t0001g0195 a0004c0005t0001g0214 a0005c0004t0001g0006 a0005c0004t0001g0194 a0005c0004t0001g0216 a0005c0004t0001g0246 a0005c0004t0001g0263 a0005c0004t0001g0275 a0011c0017t0001g0257 a0014c0035t0001g0207 a0015c0016t0002g0010 a0016c0019t0002g0215 a0030c0041t0002g0193	99	290	0.3414	-17	c.23+ others(30): Show c.23+728_23+744delATTGGAAGGGAGAATAT	ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	1/14			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01884.hp2 HG00140.hp2 HG01884.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0098 a0002c0002t0001g0351 a0001c0001t0002g0098 a0002c0002t0001g0351	2	442	0.0045	-17	c.59- others(32): Show c.59-3914_59-3898delTTTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091883	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	442	0.0023	-17	c.101 others(36): Show c.1013-1320_1013-1304delCTTTCTTTCTTTCTTTC	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERMAP_chr1_42812122_42849991	42832179	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18944.hp2 NA18612.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0165 a0001c0001t0002g0137 a0001c0001t0002g0165	2	386	0.0052	-17	c.433 others(34): Show c.433+1077_433+1093delTTTTTTTTTTTTTTTTT	ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ERMN_chr2_157313631_157330824	157327733	GAGCCTAA others(10): Show GAGCCTAAGGCAGTCTCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG03239.hp2 others(1): Show HG01167.hp1 HG01169.hp1 HG03239.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	4	368	0.0109	-17	c.-21 others(28): Show c.-2108_-2092delTGAGACTGCCTTAGGCT	ERMN	ENSG00000136541.15	transcript	ENST00000410096.6	protein_coding		1910		chr2	TogoVar
ERN1_chr17_64034142_64135144	64051747	TAAAACCC others(10): Show TAAAACCCAGTAGGTATC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG03453.hp2 others(1): Show HG02572.hp1 HG02809.hp2 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0004 a0001c0002t0001 a0001c0003t0004	a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0003t0004g0146 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0023 a0001c0003t0004g0146 a0001c0003t0004g0148	4	234	0.0171	-17	c.225 others(36): Show c.2253+1016_2253+1032delGATACCTACTGGGTTTT	ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	17/21			chr17	TogoVar
ERO1B_chr1_236210101_236286958	236245570	ATATATAT others(10): Show ATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	396	0.0025	-17	c.432 others(34): Show c.432-2092_432-2076delAAAAAAATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ESCO2_chr8_27769554_27810316	27799817	CAGTATAA others(10): Show CAGTATAAATACTATTAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02257.hp1 HG02280.hp1 others(9): Show HG00738.hp1 HG02257.hp1 HG02280.hp1 HG02647.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp1 HG03098.hp2 HG03225.hp1 HG03540.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 others(2): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0020 a0001c0001t0031 a0001c0001t0035	a0001c0001t0001g0060 a0001c0001t0016g0016 a0001c0001t0016g0054 others(7): Show a0001c0001t0001g0060 a0001c0001t0016g0016 a0001c0001t0016g0054 a0001c0001t0016g0055 a0001c0001t0020g0023 a0001c0001t0020g0056 a0001c0001t0020g0057 a0001c0001t0020g0058 a0001c0001t0031g0059 a0001c0001t0035g0023	12	380	0.0316	-17	c.167 others(34): Show c.1673+105_1673+121delATAAATACTATTAAAGT	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27802631	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0152 a0001c0001t0039g0152	1	380	0.0026	-17	c.167 others(34): Show c.1674-674_1674-658delTATATATATATATATAT	ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10			chr8	TogoVar
ESPL1_chr12_53263299_53298638	53273836	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02083.hp1 HG02135.hp2 others(3): Show HG02027.hp1 HG02083.hp1 HG02135.hp2 HG02523.hp2 HG04228.hp2 NA18747.hp1	a0005 a0013 a0005 a0013	a0005c0009 a0005c0044 a0013c0039 a0005c0009 a0005c0044 a0013c0039	a0005c0009t0001 a0005c0044t0001 a0013c0039t0001 a0005c0009t0001 a0005c0044t0001 a0013c0039t0001	a0005c0009t0001g0023 a0005c0009t0001g0025 a0005c0009t0001g0049 others(2): Show a0005c0009t0001g0023 a0005c0009t0001g0025 a0005c0009t0001g0049 a0005c0044t0001g0023 a0013c0039t0001g0060	6	334	0.0180	-17	c.150 others(34): Show c.1507-967_1507-951delTTTTTTTTTTTTTTTTT	ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESRRA_chr11_64300524_64321743	64321090	TGGAGAGA others(10): Show TGGAGAGAGTCCTCTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp2 others(6): Show HG01070.hp1 HG01071.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01496.hp2 HG02293.hp2 HG04204.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0154	9	388	0.0232	-17	c.51 others(28): Show c.5125_*5141delGGAGAGAGTCCTCTGTG	ESRRA	ENSG00000173153.17	transcript	ENST00000000442.11	protein_coding		4348		chr11	TogoVar
ESRRA_chr11_64300524_64321743	64321306	TGGAGAGA others(10): Show TGGAGAGAGTCCTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02738.hp2 HG03831.hp1 HG02071.hp1 HG02738.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0001 a0003c0009t0001 a0001c0001t0001 a0003c0009t0001	a0001c0001t0001g0077 a0001c0001t0001g0079 a0003c0009t0001g0078 a0001c0001t0001g0077 a0001c0001t0001g0079 a0003c0009t0001g0078	3	388	0.0077	-17	c.53 others(28): Show c.5341_*5357delGGAGAGAGTCCTGTGTG	ESRRA	ENSG00000173153.17	transcript	ENST00000000442.11	protein_coding		4564		chr11	TogoVar
ESRRB_chr14_76371137_76506837	76413954	TCGCCCCT others(10): Show TCGCCCCTGCACCGTCCC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00438.hp2 others(58): Show HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00544.hp1 HG01070.hp2 HG01346.hp1 HG01981.hp1 HG02257.hp2 HG02300.hp2 HG02615.hp2 HG02698.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp2 HG03579.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18963.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19082.hp1 NA19087.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0009 a0002c0003 a0002c0004 a0005c0013 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0035 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0008 a0001c0002t0022 a0001c0005t0005 a0001c0005t0006 a0001c0005t0013 a0001c0005t0015 a0001c0007t0001 a0001c0007t0002 a0001c0009t0008 a0002c0003t0003 a0002c0004t0003 a0002c0004t0004 a0005c0013t0002 a0006c0010t0003	a0001c0001t0001g0106 a0001c0001t0001g0154 a0001c0001t0001g0161 others(58): Show a0001c0001t0001g0106 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0286 a0001c0001t0002g0030 a0001c0001t0002g0232 a0001c0001t0002g0311 a0001c0001t0006g0202 a0001c0001t0007g0230 a0001c0001t0010g0135 a0001c0001t0010g0160 a0001c0001t0020g0123 a0001c0001t0020g0308 a0001c0001t0035g0094 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0147 a0001c0002t0001g0239 a0001c0002t0001g0266 a0001c0002t0001g0269 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0055 a0001c0002t0002g0096 a0001c0002t0002g0111 a0001c0002t0002g0162 a0001c0002t0002g0217 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0293 a0001c0002t0002g0300 a0001c0002t0003g0050 a0001c0002t0003g0149 a0001c0002t0003g0280 a0001c0002t0003g0298 a0001c0002t0007g0316 a0001c0002t0008g0084 a0001c0002t0022g0131 a0001c0005t0005g0037 a0001c0005t0006g0208 a0001c0005t0013g0186 a0001c0005t0015g0207 a0001c0007t0001g0116 a0001c0007t0002g0120 a0001c0007t0002g0177 a0001c0009t0008g0235 a0002c0003t0003g0115 a0002c0004t0003g0049 a0002c0004t0003g0091 a0002c0004t0003g0303 a0002c0004t0003g0304 a0002c0004t0004g0117 a0002c0004t0004g0297 a0005c0013t0002g0159 a0006c0010t0003g0205	61	318	0.1918	-17	c.51- others(34): Show c.51-25370_51-25354delCCGCCCCTGCACCGTCC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76452631	ACAAAACA others(10): Show ACAAAACAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02258.hp2 HG02809.hp1 HG01891.hp2 HG02258.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0002 a0001c0001t0009 a0001c0001t0014	a0001c0001t0002g0021 a0001c0001t0009g0210 a0001c0001t0014g0104 a0001c0001t0002g0021 a0001c0001t0009g0210 a0001c0001t0014g0104	3	318	0.0094	-17	c.461 others(34): Show c.461-9913_461-9897delCAAAACAAAAACAAAAC	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6			chr14	TogoVar
ETF1_chr5_138501095_138548236	138501222	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	334	0.0030	-17	c.70 others(28): Show c.7066_*7082delTTTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512252	ATATATAT others(10): Show ATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	334	0.0030	-17	c.732 others(32): Show c.732+495_732+511delAAAAAAAAAAATATATA	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar
ETFA_chr15_76210353_76316469	76230218	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(113): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02300.hp1 HG02559.hp1 HG02683.hp1 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp1 NA18952.hp2 NA18960.hp1 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp2 NA18992.hp2 NA18993.hp2 NA18995.hp1 NA19002.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp2 NA19058.hp2 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19085.hp2 NA19090.hp2 NA19091.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0014 a0001c0001t0001 a0001c0001t0013 a0001c0001t0014	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(112): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0013g0301 a0001c0001t0014g0302	116	336	0.3452	-17	c.882 others(34): Show c.882+1098_882+1114delAAAAAAAAAAAAAAAAA	ETFA	ENSG00000140374.17	transcript	ENST00000557943.6	protein_coding	10/11			chr15	TogoVar
ETFB_chr19_51340169_51371388	51352658	AGGAGTGC others(10): Show AGGAGTGCAGTGGTGCCT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	2	436	0.0046	-17	c.375 others(32): Show c.375+457_375+473delAGGCACCACTGCACTCC	ETFB	ENSG00000105379.10	transcript	ENST00000309244.9	protein_coding	3/5			chr19	TogoVar
ETHE1_chr19_43501719_43532201	43518999	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG04199.hp1 HG02145.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0193 a0001c0001t0001g0194	2	408	0.0049	-17	c.375 others(34): Show c.375+7185_375+7201delAAAAAAAAAAAAAAAAA	ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	3/6			chr19	TogoVar
ETNPPL_chr4_108737053_108768053	108763785	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0107 a0001c0001t0001g0108	2	378	0.0053	-17	c.-90 others(26): Show c.-904_-888delAAAAAAAAAAAAAAAAA	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding		733		chr4	TogoVar

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