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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
EFCAB13_chr17_47318955_47446312	47325943	TATATATA others(14): Show TATATATATATATATATATAGC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0071 a0005c0005t0001g0071	1	354	0.0028	-21	c.-24 others(38): Show c.-247-272_-247-252delATATATATAGCATATATATAT		EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB5_chr17_29936634_30113452	30026961	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	19	0.0526	-21	c.104 others(40): Show c.1045-7246_1045-7226delTTTTTTTTTTTTTTTTTTTTT		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43567109	CTCCTCCT others(14): Show CTCCTCCTCATCATCCTCCTCG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01243.hp2 HG01346.hp1 others(14): Show HG00323.hp2 HG01243.hp2 HG01346.hp1 HG01515.hp2 HG01517.hp2 HG02004.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02922.hp1 HG02970.hp1 HG03098.hp1 HG03453.hp1 HG03486.hp2 NA18954.hp1 NA20129.hp1 NA20805.hp2	a0006 a0013 a0026 a0006 a0013 a0026	a0006c0006 a0013c0018 a0026c0042 a0006c0006 a0013c0018 a0026c0042	a0006c0006t0001 a0013c0018t0001 a0026c0042t0001 a0006c0006t0001 a0013c0018t0001 a0026c0042t0001	a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 others(14): Show a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0267 a0006c0006t0001g0268 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0272 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0013c0018t0001g0090 a0026c0042t0001g0275	17	288	0.0590	-21	c.342 others(40): Show c.3420+9167_3420+9187delCGAGGAGGATGATGAGGAGGA		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	26/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43599509	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02630.hp2 HG01257.hp1 HG02630.hp2	a0003 a0010 a0003 a0010	a0003c0003 a0010c0010 a0003c0003 a0010c0010	a0003c0003t0001 a0010c0010t0001 a0003c0003t0001 a0010c0010t0001	a0003c0003t0001g0226 a0010c0010t0001g0148 a0003c0003t0001g0226 a0010c0010t0001g0148	2	7	0.2857	-21	c.287 others(38): Show c.2876+539_2876+559delTTTTTTTTTTTTTTTTTTTTT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	23/31						chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43787776	TGATCATG others(14): Show TGATCATGAAAAATAAAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02293.hp1 HG02004.hp1 HG02293.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0279 a0006c0006t0001g0280 a0006c0006t0001g0279 a0006c0006t0001g0280	2	288	0.0069	-21	c.-7- others(36): Show c.-7-5472_-7-5452delTTATTTTTATTTTTCATGATC		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31						chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32939179	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0016 a0016	a0016c0026 a0016c0026	a0016c0026t0001 a0016c0026t0001	a0016c0026t0001g0281 a0016c0026t0001g0281	1	282	0.0035	-21	c.279 others(40): Show c.2791-4454_2791-4434delTCTTTCTTTCTTTCTTTCTTT		EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26					INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18981.hp2 NA19240.hp1 HG02886.hp2 NA18981.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008	a0001c0001t0005g0087 a0001c0001t0006g0021 a0001c0001t0008g0199 a0001c0001t0005g0087 a0001c0001t0006g0021 a0001c0001t0008g0199	3	17	0.1765	-21	c.607 others(38): Show c.607-1173_607-1153delTTTTTTTTTTTTTTTTTTTTT		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14						chrX	TogoVar
EFHC2_chrX_44142872_44348672	44275110	CACTGGCA others(14): Show CACTGGCATAGGTCAATTGACA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	219	0.0046	-21	c.232 others(38): Show c.232-2295_232-2275delTGTCAATTGACCTATGCCAGT		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14						chrX	TogoVar
EFNA2_chr19_1280873_1306431	1282164	AGGGAAGG others(14): Show AGGGAAGGGGAGGAGGAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0001 a0001c0001t0020g0001	1	291	0.0034	-21	c.-40 others(32): Show c.-4004_-3984delGGGAAGGGGAGGAGGAGGAAG		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding					3708		chr19	TogoVar
EFNA2_chr19_1280873_1306431	1303803	GGGCTCAA others(14): Show GGGCTCAAGCGATTTGCCTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0103 a0001c0001t0042g0103	1	292	0.0034	-21	c.38 others(32): Show c.3859_*3879delGGCTCAAGCGATTTGCCTCCC		EFNA2	ENSG00000099617.4	transcript	ENST00000215368.4	protein_coding					2373		chr19	TogoVar
EFNA5_chr5_107371894_107675937	107406034	CCTATATT others(14): Show CCTATATTTGTATACATATTCT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0043 a0001c0001t0005g0043	1	190	0.0053	-21	c.419 others(40): Show c.419-18284_419-18264delAGAATATGTATACAAATATAG		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EFNA5_chr5_107371894_107675937	107406088	CCTATATT others(14): Show CCTATATTTGTATACATATTCT	C C	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0054 a0001c0001t0026g0054	1	190	0.0053	-21	c.419 others(40): Show c.419-18338_419-18318delAGAATATGTATACAAATATAG		EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4						chr5	TogoVar
EGFLAM_chr5_38253559_38470480	38459770	CCCCTGGC others(14): Show CCCCTGGCTGCTGGGCCCCCAA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02055.hp2 others(31): Show HG01243.hp1 HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp2 NA18964.hp1 NA18995.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0010 a0011 a0012 a0013 a0020	a0001c0001 a0002c0002 a0002c0028 others(12): Show a0001c0001 a0002c0002 a0002c0028 a0003c0003 a0003c0008 a0003c0011 a0004c0004 a0004c0031 a0006c0032 a0010c0012 a0011c0014 a0012c0016 a0013c0036 a0013c0037 a0020c0038	a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 others(27): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0002c0002t0007 a0002c0002t0011 a0002c0002t0029 a0002c0028t0007 a0003c0003t0005 a0003c0003t0006 a0003c0003t0009 a0003c0003t0010 a0003c0003t0012 a0003c0003t0022 a0003c0008t0010 a0003c0011t0005 a0003c0011t0016 a0004c0004t0005 a0004c0004t0007 a0004c0004t0009 a0004c0031t0013 a0006c0032t0007 a0010c0012t0028 a0011c0014t0013 a0011c0014t0027 a0012c0016t0012 a0013c0036t0009 a0013c0037t0006 a0020c0038t0009	a0001c0001t0005g0154 a0001c0001t0006g0106 a0001c0001t0016g0147 others(31): Show a0001c0001t0005g0154 a0001c0001t0006g0106 a0001c0001t0016g0147 a0001c0001t0017g0085 a0001c0001t0019g0083 a0002c0002t0007g0095 a0002c0002t0011g0114 a0002c0002t0029g0111 a0002c0028t0007g0030 a0003c0003t0005g0109 a0003c0003t0005g0148 a0003c0003t0006g0090 a0003c0003t0009g0055 a0003c0003t0010g0121 a0003c0003t0010g0125 a0003c0003t0012g0048 a0003c0003t0022g0069 a0003c0008t0010g0132 a0003c0011t0005g0115 a0003c0011t0016g0143 a0004c0004t0005g0124 a0004c0004t0005g0127 a0004c0004t0005g0149 a0004c0004t0007g0160 a0004c0004t0009g0006 a0004c0031t0013g0157 a0006c0032t0007g0022 a0010c0012t0028g0117 a0011c0014t0013g0007 a0011c0014t0027g0126 a0012c0016t0012g0155 a0013c0036t0009g0141 a0013c0037t0006g0140 a0020c0038t0009g0096	34	188	0.1809	-21	c.277 others(40): Show c.2771+1386_2771+1406delCTGGGCCCCCAACCCTGGCTG		EGFLAM	ENSG00000164318.18	transcript	ENST00000322350.10	protein_coding	20/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
EGFR_chr7_55014017_55216628	55027992	ATATATAT others(14): Show ATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	235	0.0043	-21	c.88+ others(36): Show c.88+8628_88+8648delTATATATATATATATATATAT		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27						chr7	TogoVar
EGLN1_chr1_231358756_231427287	231421496	GGCGGCCG others(14): Show GGCGGCCGCACGACACGGCGAC	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18951.hp2 NA18965.hp1 NA19081.hp2 NA18951.hp2 NA18965.hp1 NA19081.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0019 a0004c0004t0002g0020 a0004c0004t0002g0021 a0004c0004t0002g0019 a0004c0004t0002g0020 a0004c0004t0002g0021	3	336	0.0089	-21	c.372 others(28): Show c.372_392delGTCGCCGTGTCGTGCGGCCGC	p.Ser others(13): Show p.Ser125_Ala131del	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/5	791/4335	372/1281	124/426			chr1	TogoVar
EGLN1_chr1_231358756_231427287	231422356	AGGGAGGG others(14): Show AGGGAGGGCCGGGAGGGCCGGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01884.hp2 HG02451.hp2 others(2): Show HG01123.hp1 HG01884.hp2 HG02451.hp2 HG03453.hp2 HG03486.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0002 a0001c0001t0002 a0003c0003t0002	a0001c0001t0002g0069 a0003c0003t0002g0307 a0003c0003t0002g0308 others(2): Show a0001c0001t0002g0069 a0003c0003t0002g0307 a0003c0003t0002g0308 a0003c0003t0002g0309 a0003c0003t0002g0310	5	334	0.0150	-21	c.-48 others(30): Show c.-489_-469delCCCGGCCCTCCCGGCCCTCCC		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding					70		chr1	TogoVar
EGR3_chr8_22682659_22698480	22693346	GCCACCGC others(14): Show GCCACCGCCACCGCCACCGCCA	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0035 a0001c0001t0019g0035	1	372	0.0027	-21	c.-42 others(30): Show c.-423_-403delTGGCGGTGGCGGTGGCGGTGG		EGR3	ENSG00000179388.9	transcript	ENST00000317216.3	protein_coding	1/2				403		chr8	TogoVar
EHD2_chr19_47708422_47748134	47724981	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02040.hp2 HG02056.hp2 others(1): Show HG01074.hp2 HG02040.hp2 HG02056.hp2 HG04204.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0002 a0001c0015t0001 a0001c0004t0002 a0001c0015t0001	a0001c0004t0002g0043 a0001c0004t0002g0237 a0001c0015t0001g0104 others(1): Show a0001c0004t0002g0043 a0001c0004t0002g0237 a0001c0015t0001g0104 a0001c0015t0001g0302	4	7	0.5714	-21	c.503 others(36): Show c.503-813_503-793delAAAAAAAAAAAAAAAAAAAAA		EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137780029	CCTGAGAT others(14): Show CCTGAGATGTGTGGTGATGACG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02717.hp2 others(4): Show HG01884.hp1 HG01891.hp2 HG02717.hp2 HG03098.hp1 HG03195.hp2 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 others(4): Show a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0009t0001g0061	7	168	0.0417	-21	c.227 others(38): Show c.2275+343_2275+363delGTGGTGATGACGCTGAGATGT		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780410	GGATGTGT others(14): Show GGATGTGTGGTGATGACGCTGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0001 a0007c0026t0001	a0007c0026t0001g0167 a0007c0026t0001g0167	1	166	0.0060	-21	c.227 others(38): Show c.2275+711_2275+731delCTGAGATGTGTGGTGATGACG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137780948	TGTGTGGT others(14): Show TGTGTGGTGATGACGCTGAGAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0158 a0001c0008t0001g0158	1	166	0.0060	-21	c.227 others(40): Show c.2275+1249_2275+1269delAGACGTGTGGTGATGACGCTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137805092	GTCTGCAT others(14): Show GTCTGCATGTGTGAGTCAGTCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG01891.hp2 others(34): Show HG01109.hp1 HG01884.hp2 HG01891.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03579.hp1 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0003 a0001c0004 a0001c0006 others(6): Show a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0018 a0001c0020 a0003c0024 a0007c0026	a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 others(6): Show a0001c0003t0001 a0001c0004t0001 a0001c0006t0001 a0001c0007t0001 a0001c0008t0001 a0001c0018t0001 a0001c0020t0003 a0003c0024t0001 a0007c0026t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(34): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0004t0001g0153 a0001c0006t0001g0146 a0001c0006t0001g0147 a0001c0006t0001g0148 a0001c0006t0001g0152 a0001c0006t0001g0154 a0001c0006t0001g0155 a0001c0006t0001g0159 a0001c0007t0001g0049 a0001c0007t0001g0050 a0001c0007t0001g0052 a0001c0007t0001g0053 a0001c0007t0001g0054 a0001c0007t0001g0055 a0001c0007t0001g0082 a0001c0008t0001g0150 a0001c0008t0001g0156 a0001c0008t0001g0158 a0001c0018t0001g0062 a0001c0020t0003g0149 a0003c0024t0001g0074 a0007c0026t0001g0167	37	168	0.2202	-21	c.271 others(40): Show c.2712+4121_2712+4141delAGTCAGTCATCTGCATGTGTG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK2_chr2_37094210_37161980	37145742	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA21309.hp1 HG03491.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0032 a0001c0001t0004 a0001c0001t0032	a0001c0001t0004g0062 a0001c0001t0032g0014 a0001c0001t0004g0062 a0001c0001t0032g0014	2	4	0.5000	-21	c.240 others(38): Show c.240+1090_240+1110delAAAAAAAAAAAAAAAAAAAAA		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	4/16						chr2	TogoVar
EIF2A_chr3_150541787_150591016	150583685	ATACCAGA others(14): Show ATACCAGATAACAAATTAGAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG01891.hp2 others(7): Show HG01243.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02976.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0005 a0001c0001t0006g0183 a0001c0001t0006g0184 others(1): Show a0001c0001t0006g0005 a0001c0001t0006g0183 a0001c0001t0006g0184 a0001c0001t0006g0185	10	392	0.0255	-21	c.169 others(38): Show c.1693-159_1693-139delACCAGATAACAAATTAGAATT		EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding	13/13					INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF3G_chr19_10110014_10124899	10119050	TGGCAGTC others(14): Show TGGCAGTCCTCACTCACCTCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(175): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02970.hp1 HG02970.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19080.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0022 a0001c0001t0002g0035 a0001c0002t0001g0020 others(15): Show a0001c0001t0001g0022 a0001c0001t0002g0035 a0001c0002t0001g0020 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0008 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0002g0037 a0001c0002t0003g0029	178	456	0.3904	-21	c.151 others(34): Show c.151+17_151+37delGGGAGGTGAGTGAGGACTGCC		EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding	3/10						chr19	TogoVar
EIF3I_chr1_32217407_32236604	32221931	ACCCGCTG others(14): Show ACCCGCTGCAGGCCGGCGGAGG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA19088.hp1 NA18972.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0035 a0001c0001t0002g0005 a0001c0001t0002g0035	2	382	0.0052	-21	c.-51 others(30): Show c.-510_-490delCCCGCTGCAGGCCGGCGGAGG		EIF3I	ENSG00000084623.12	transcript	ENST00000677711.2	protein_coding					475		chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20841857	CAAGGGGG others(14): Show CAAGGGGGAGGATGTAGGTAGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 NA18906.hp1 others(1): Show HG02109.hp1 HG02723.hp2 NA18906.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0022 a0002c0003t0001	a0001c0001t0003g0237 a0001c0001t0005g0293 a0001c0001t0022g0298 others(1): Show a0001c0001t0003g0237 a0001c0001t0005g0293 a0001c0001t0022g0298 a0002c0003t0001g0203	4	281	0.0142	-21	c.388 others(38): Show c.3889-850_3889-830delCCTACCTACATCCTCCCCCTT		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	29/36						chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02074.hp1 HG02257.hp1 others(6): Show HG00140.hp1 HG02074.hp1 HG02257.hp1 HG02451.hp1 HG02647.hp2 HG03516.hp1 NA19000.hp1 NA19056.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0163 a0001c0001t0001g0251	9	16	0.5625	-21	c.60- others(34): Show c.60-791_60-771delTTTTTTTTTTTTTTTTTTTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
ELAC2_chr17_12986612_13023027	12986685	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAGAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0111 a0002c0002t0019g0111	1	398	0.0025	-21	c.61 others(32): Show c.6112_*6132delATTCTTTTTTTTTTTTTTTTT		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					4926		chr17	TogoVar
ELAVL1_chr19_7953573_8010641	8009532	TTTATTAT others(14): Show TTTATTATTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00733.hp1 others(33): Show HG00140.hp1 HG00280.hp2 HG00733.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01109.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02698.hp1 HG02809.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp2 HG03927.hp1 NA18906.hp1 NA18961.hp2 NA18968.hp2 NA19030.hp2 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0002t0004 a0001c0002t0009	a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0071 others(25): Show a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0130 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0003g0136 a0001c0001t0012g0234 a0001c0001t0012g0235 a0001c0001t0012g0236 a0001c0002t0004g0004 a0001c0002t0004g0019 a0001c0002t0004g0020 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0224 a0001c0002t0004g0225 a0001c0002t0004g0226 a0001c0002t0004g0227 a0001c0002t0004g0228 a0001c0002t0004g0237 a0001c0002t0004g0238 a0001c0002t0009g0021 a0001c0002t0009g0230 a0001c0002t0009g0231 a0001c0002t0009g0232	36	81	0.4444	-21	c.-40 others(32): Show c.-4075_-4055delTAATAATAATAATAATAATAA		ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding					3892		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03017.hp2 HG03195.hp1 others(10): Show HG02809.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 NA18612.hp1 NA18939.hp2 NA18944.hp1 NA18974.hp2 NA18995.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0092 a0001c0001t0001g0111 a0001c0001t0001g0112 others(10): Show a0001c0001t0001g0092 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0126 a0001c0001t0001g0141 a0001c0001t0001g0314 a0001c0001t0001g0324 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0003g0173 a0001c0001t0005g0175 a0001c0001t0006g0122	13	14	0.9286	-21	c.-15 others(40): Show c.-15-17751_-15-17731delTTTTTTTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50190319	CTTTCAGC others(14): Show CTTTCAGCCTAACCAAGGGCCT	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	274	0.0036	-21	c.355 others(38): Show c.355-3445_355-3425delTTTCAGCCTAACCAAGGGCCT		ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	3/6						chr1	TogoVar
ELF1_chr13_40926924_41024316	41016940	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0010 a0004c0006t0004g0010	1	358	0.0028	-21	c.-22 others(40): Show c.-229+2267_-229+2287delATATATATATATATTTTTTTT		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8						chr13	TogoVar
ELF1_chr13_40926924_41024316	41016942	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0143 a0001c0001t0008g0143	1	349	0.0029	-21	c.-22 others(40): Show c.-229+2265_-229+2285delATATATATATATATATTTTTT		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8						chr13	TogoVar
ELF2_chr4_139052265_139182218	139134564	GTTATTTT others(14): Show GTTATTTTATTTTATGTTATAT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03540.hp2 HG02109.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0110 a0002c0002t0002g0121 a0002c0002t0002g0110 a0002c0002t0002g0121	2	338	0.0059	-21	c.72+ others(36): Show c.72+3045_72+3065delATATAACATAAAATAAAATAA		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9						chr4	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00733.hp2 HG01081.hp2 others(31): Show HG00323.hp2 HG00733.hp2 HG01081.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp1 HG01884.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp2 HG02145.hp2 HG02165.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG03017.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp1 NA18964.hp2 NA19011.hp2 NA19043.hp2 NA19086.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0011 a0002c0002t0001 a0002c0002t0005 a0002c0002t0008 a0002c0002t0013 a0002c0002t0019	a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0011g0115 others(31): Show a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0011g0115 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0122 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0238 a0002c0002t0001g0239 a0002c0002t0001g0240 a0002c0002t0001g0241 a0002c0002t0005g0119 a0002c0002t0005g0120 a0002c0002t0005g0121 a0002c0002t0005g0127 a0002c0002t0008g0116 a0002c0002t0008g0118 a0002c0002t0013g0113 a0002c0002t0019g0131	34	87	0.3908	-21	c.136 others(40): Show c.136-18388_136-18368delAAAAAAAAAAAAAAAAAAAAA		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11						chr19	TogoVar
ELMO1_chr7_36847906_37453864	36953838	TTTGTGTG others(14): Show TTTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0027	1	89	0.0112	-21	c.143 others(42): Show c.1438-58842_1438-58822delCACACACACACACACACACAA		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21						chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590382	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0275 a0001c0002t0002g0275	1	340	0.0029	-21	c.-11 others(32): Show c.-1112_-1092delTCTCTCTCTCTCTCTCTCTCT		ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding					764		chr11	TogoVar
ELOA_chr1_23738471_23767059	23758247	ATTTATTT others(14): Show ATTTATTTATTTATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02809.hp2 others(5): Show HG02109.hp1 HG02622.hp2 HG02809.hp2 HG03041.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0004 a0003c0004t0013 a0003c0004t0003 a0003c0004t0004 a0003c0004t0013	a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0055 others(3): Show a0003c0004t0003g0051 a0003c0004t0003g0052 a0003c0004t0003g0055 a0003c0004t0003g0056 a0003c0004t0004g0022 a0003c0004t0013g0054	8	388	0.0206	-21	c.225 others(40): Show c.2257+1126_2257+1146delATTTATTTATTTTTTTTTTTT		ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(14): Show ATTTATTTATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	305	0.0033	-21	c.225 others(40): Show c.2257+1130_2257+1150delATTTATTTTTTTTTTTTTTTT		ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00639.hp2 others(3): Show HG00140.hp1 HG00323.hp2 HG00639.hp2 HG02970.hp1 HG03209.hp1 NA20129.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0005 a0005c0008 a0001c0002 a0001c0005 a0005c0008	a0001c0002t0001 a0001c0005t0001 a0005c0008t0001 a0001c0002t0001 a0001c0005t0001 a0005c0008t0001	a0001c0002t0001g0178 a0001c0002t0001g0187 a0001c0005t0001g0007 others(2): Show a0001c0002t0001g0178 a0001c0002t0001g0187 a0001c0005t0001g0007 a0001c0005t0001g0057 a0005c0008t0001g0007	6	12	0.5000	-21	c.56 others(32): Show c.5634_*5654delTTTTTTTTTTTTTTTTTTTTT		ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding					3148		chr1	TogoVar
ELOVL6_chr4_110040846_110203615	110044279	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0038 a0001c0001t0042g0038	1	336	0.0030	-21	c.70 others(32): Show c.7038_*7058delGTTTTTTTTTTTTTTTTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding					1566		chr4	TogoVar
ELP4_chr11_31504767_31795324	31794404	AACACACA others(14): Show AACACACACACACACACCACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 NA18977.hp2 HG03831.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0044 a0001c0001t0017g0105 a0001c0001t0001g0044 a0001c0001t0017g0105	2	264	0.0076	-21	c.10 others(34): Show c.10881_*10901delACACACACACACACACCACAC		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding					4081		chr11	TogoVar
ELP5_chr17_7247215_7264937	7261157	CCCCTCCC others(14): Show CCCCTCCCGACAGCGCGGCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	410	0.0024	-21	c.14 others(32): Show c.1473_*1493delCCCTCCCGACAGCGCGGCCTT		ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding					1221		chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	48013289	TCTTCCCC others(14): Show TCTTCCCCAGTGCTCCTGGCCC	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0280 a0017c0019t0001g0280	1	386	0.0026	-21	c.71- others(34): Show c.71-880_71-860delTTCCCCAGTGCTCCTGGCCCC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016449	CTCTTTCT others(14): Show CTCTTTCTTTTCTTTCCTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0014 a0014	a0014c0018 a0014c0018	a0014c0018t0001 a0014c0018t0001	a0014c0018t0001g0019 a0014c0018t0001g0019	1	386	0.0026	-21	c.355 others(36): Show c.355+420_355+440delTCTTTCCTTCTTTCTTTCTTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016510	TTCTTTCT others(14): Show TTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0243 a0002c0002t0002g0243	1	386	0.0026	-21	c.355 others(36): Show c.355+472_355+492delTCTTTCTTTCTTTCTTTCTTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6						chr19	TogoVar
EMC10_chr19_50471507_50495871	50490784	GAGGCTTC others(14): Show GAGGCTTCGCTGCTGGAAAATC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0071 a0001c0002t0071	a0001c0002t0071g0048 a0001c0002t0071g0048	1	350	0.0029	-21	c.85 others(32): Show c.8528_*8548delGCTTCGCTGCTGGAAAATCAG		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7				8528	INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC8_chr16_85773624_85804544	85792124	AACACATA others(14): Show AACACATATGGTATCACCTTGT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02723.hp1 HG03225.hp1 others(2): Show HG01167.hp2 HG02723.hp1 HG03225.hp1 HG03516.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0024 a0001c0001t0010 a0001c0001t0024	a0001c0001t0010g0031 a0001c0001t0010g0057 a0001c0001t0010g0059 others(1): Show a0001c0001t0010g0031 a0001c0001t0010g0057 a0001c0001t0010g0059 a0001c0001t0024g0058	5	406	0.0123	-21	c.232 others(38): Show c.232-3095_232-3075delACAAGGTGATACCATATGTGT		EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding	1/4						chr16	TogoVar
EMID1_chr22_29200896_29264597	29238254	AATTATTA others(14): Show AATTATTATTATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19005.hp1 NA19079.hp2 NA18955.hp2 NA19005.hp1 NA19079.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195	3	185	0.0162	-21	c.107 others(40): Show c.1074+3934_1074+3954delTTATTATTATTATTATTATTA		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	12/14					INFO_REALIGN_3_PRIME	chr22	TogoVar

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