Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact

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
EIF4G3_chr1_20801479_21181897	21007515	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01109.hp2 HG01169.hp2 others(22): Show HG00280.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp2 HG01256.hp2 HG01952.hp2 HG02027.hp1 HG02055.hp1 HG02886.hp1 HG02970.hp1 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 NA18906.hp1 NA18949.hp1 NA18955.hp2 NA18975.hp1 NA18980.hp2 NA18987.hp2 NA19030.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp1 NA19090.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0005c0007t0003	a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0192 others(22): Show a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0003g0027 a0001c0001t0003g0242 a0001c0001t0003g0250 a0001c0001t0003g0260 a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0005g0294 a0001c0001t0005g0295 a0005c0007t0003g0265	25	312	0.0801	15	c.-66 others(32): Show c.-66-4722_-66-4708dupTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	4/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21068375	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02602.hp1 HG02027.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0084 a0001c0001t0004g0228 a0001c0001t0002g0084 a0001c0001t0004g0228	2	312	0.0064	15	c.-19 others(36): Show c.-195-17396_-195-17382dupTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	3/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21101562	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00423.hp2 others(22): Show HG00140.hp2 HG00408.hp1 HG00423.hp2 HG01261.hp2 HG02055.hp1 HG02129.hp1 HG02135.hp2 HG02698.hp2 HG02922.hp1 HG02970.hp1 HG03453.hp1 HG03490.hp2 HG03516.hp1 HG04115.hp1 HG04204.hp1 NA18949.hp2 NA18988.hp1 NA19004.hp2 NA19010.hp2 NA19056.hp1 NA19064.hp1 NA19064.hp2 NA19078.hp2 NA19079.hp1 NA20805.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0005c0007t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0124 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0124 a0001c0001t0001g0132 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0002g0045 a0001c0001t0003g0268 a0001c0001t0006g0018 a0001c0001t0006g0149 a0001c0001t0006g0151 a0001c0001t0006g0152 a0001c0001t0008g0304 a0005c0007t0001g0019	25	312	0.0801	15	c.-27 others(36): Show c.-271-12350_-271-12349insTTTTTTTTTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21176231	T T	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0308 a0001c0001t0015g0309 a0001c0001t0015g0308 a0001c0001t0015g0309	2	312	0.0064	15	c.-34 others(24): Show c.-343_-329dupGGCGGCGGCGGCGGC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/37	173490		chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	A A	AATTTTTT others(8): Show AATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	374	0.0027	15	c.60- others(28): Show c.60-823_60-822insATTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6			chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201908	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	374	0.0027	15	c.66 others(26): Show c.6600_*6601insTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4813		chr7	TogoVar
EIF5AL1_chr10_79507533_79521440	79512538	A A	AGGCGGCG others(8): Show AGGCGGCGGCGGCGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0033 a0002c0002t0033	a0002c0002t0033g0000 a0002c0002t0033g0000	1	430	0.0023	15	c.-10 others(23): Show c.-100_-86dupCGGCGGCGGCGGCGG	EIF5AL1	ENSG00000253626.4	transcript	ENST00000520547.4	protein_coding	1/1	85	INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(8): Show GCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG01071.hp2 NA18944.hp2 NA18999.hp2 HG01071.hp2 NA18944.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0120 a0001c0001t0003g0215 a0001c0001t0003g0015 a0001c0001t0003g0120 a0001c0001t0003g0215	3	250	0.0120	15	c.517 others(32): Show c.517-2044_517-2043insGGGGGGGGGGGGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCATC others(8): Show CCACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	250	0.0040	15	c.259 others(34): Show c.259+22847_259+22848insTGGATGGGGATGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3355812	T T	TAAATAAA others(8): Show TAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00738.hp2 others(24): Show HG00140.hp1 HG00544.hp1 HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01884.hp2 HG02809.hp2 HG03225.hp2 HG03239.hp1 NA18747.hp2 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18963.hp2 NA18970.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19079.hp2 NA19085.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001	a0001c0001t0001g0017 a0001c0001t0001g0210 a0001c0001t0001g0213 others(24): Show a0001c0001t0001g0017 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0115 a0001c0001t0002g0208 a0001c0001t0002g0214 a0001c0001t0003g0015 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0224 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0003t0001g0193	27	250	0.1080	15	c.43- others(30): Show c.43-1194_43-1180dupTATTTTATTTTATTT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	1/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	12986673	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0071 a0002c0002t0005g0071	1	400	0.0025	15	c.61 others(26): Show c.6130_*6144dupTTTTTTTTTTTTTTT	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4938		chr17	TogoVar
ELAC2_chr17_12986612_13023027	12989101	C C	CCGAAAAA others(8): Show CCGAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03471.hp1 HG04115.hp2 HG02109.hp1 HG03471.hp1 HG04115.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0006 a0002c0002t0029 a0003c0006t0006 a0002c0002t0006 a0002c0002t0029 a0003c0006t0006	a0002c0002t0006g0033 a0002c0002t0029g0087 a0003c0006t0006g0010 a0002c0002t0006g0033 a0002c0002t0029g0087 a0003c0006t0006g0010	3	400	0.0075	15	c.37 others(26): Show c.3716_*3717insTTTTTTTTTTTTTCG	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		2510		chr17	TogoVar
ELANE_chr19_847303_861243	847643	A A	AGCCCCCT others(8): Show AGCCCCCTTCCTGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	403	0.0025	15	c.-46 others(26): Show c.-4686_-4685insGCCCCCTTCCTGGCT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4659		chr19	TogoVar
ELAPOR1_chr1_109109115_109211781	109113398	G G	GAGAGAGA others(8): Show GAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18948.hp1 HG00438.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0044 a0001c0001t0005g0013 a0001c0001t0003g0044 a0001c0001t0005g0013	2	230	0.0087	15	c.-78 others(24): Show c.-786_-785insAGAGAGAGAGAGAGA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		716		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109120395	T T	TTAAAATA others(8): Show TTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02970.hp1 others(1): Show HG00639.hp1 HG01891.hp1 HG02970.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0013 a0002c0006 others(1): Show a0001c0001 a0001c0013 a0002c0006 a0002c0028	a0001c0001t0001 a0001c0013t0031 a0002c0006t0001 others(1): Show a0001c0001t0001 a0001c0013t0031 a0002c0006t0001 a0002c0028t0001	a0001c0001t0001g0073 a0001c0013t0031g0069 a0002c0006t0001g0009 others(1): Show a0001c0001t0001g0073 a0001c0013t0031g0069 a0002c0006t0001g0009 a0002c0028t0001g0072	4	230	0.0174	15	c.153 others(32): Show c.153+6079_153+6093dupATAAAATAAAATAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109138834	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0017 a0002c0015t0017	a0002c0015t0017g0113 a0002c0015t0017g0113	1	230	0.0044	15	c.154 others(34): Show c.154-23057_154-23043dupAAAAAAAAAAAAAAA	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	87052776	C C	CTTTTGTT others(8): Show CTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG00741.hp2 others(2): Show HG00642.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(2): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113	5	196	0.0255	15	c.189 others(32): Show c.189+6534_189+6548dupCAAAACAAAACAAAA	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	352	0.0028	15	c.713 others(32): Show c.713+1552_713+1566dupAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA18968.hp1 NA18983.hp2 others(2): Show HG02129.hp1 NA18968.hp1 NA18983.hp2 NA18991.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0001t0001 a0001c0001t0007 a0001c0002t0002	a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0215 others(2): Show a0001c0001t0001g0201 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0007g0223 a0001c0002t0002g0020	5	352	0.0142	15	c.230 others(32): Show c.230-3995_230-3981dupTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23739542	C C	CCTACCCC others(8): Show CCTACCCCCACCCCCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18943.hp2 NA18963.hp1 HG02074.hp2 NA18943.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0003g0144 a0001c0001t0001g0168 a0001c0001t0001g0184 a0001c0001t0003g0144	3	352	0.0085	15	c.230 others(32): Show c.230-8432_230-8418dupTGGGGGTGGGGGTAG	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23783131	A A	AATACCTG others(8): Show AATACCTGTGAAAGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	352	0.0028	15	c.-15 others(34): Show c.-15-20883_-15-20882insGCCTTTCACAGGTAT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23783131	A A	AATACCTG others(8): Show AATACCTGTGAAAGGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00408.hp2 others(90): Show HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG04184.hp2 HG04204.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18980.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp2 NA19065.hp1 NA19068.hp1 NA19077.hp1 NA19081.hp2 NA19082.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0002 a0003c0006 others(2): Show a0001c0001 a0001c0002 a0003c0006 a0004c0008 a0005c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0018 a0001c0002t0002 a0003c0006t0001 a0004c0008t0014 a0005c0007t0004	a0001c0001t0001g0100 a0001c0001t0001g0187 a0001c0001t0001g0263 others(90): Show a0001c0001t0001g0100 a0001c0001t0001g0187 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0002g0033 a0001c0001t0003g0313 a0001c0001t0003g0341 a0001c0001t0004g0307 a0001c0001t0006g0166 a0001c0001t0010g0006 a0001c0001t0010g0008 a0001c0001t0011g0005 a0001c0001t0011g0007 a0001c0001t0012g0293 a0001c0001t0012g0297 a0001c0001t0018g0299 a0001c0002t0002g0004 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0003c0006t0001g0279 a0004c0008t0014g0042 a0005c0007t0004g0300	93	352	0.2642	15	c.-15 others(34): Show c.-15-20897_-15-20883dupACCTTTCACAGGTAT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830624	A A	ACACACAC others(8): Show ACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	352	0.0028	15	c.-48 others(26): Show c.-4835_-4834insGTGTGTGTGTGTGTG	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding		4385		chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119036	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	276	0.0036	15	c.9+9 others(28): Show c.9+9840_9+9841insGAAAGAAAGAAAGAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50133599	A A	AAAGAAAG others(8): Show AAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0005	1	276	0.0036	15	c.10- others(32): Show c.10-11356_10-11355insGAAAGAAAGAAAGAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF2_chr4_139052265_139182218	139092413	A A	AAACATAA others(8): Show AAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG01074.hp1 others(15): Show HG00140.hp2 HG00639.hp2 HG01074.hp1 HG01433.hp1 HG02109.hp1 HG02155.hp2 HG02280.hp1 HG02615.hp1 HG03225.hp1 HG03669.hp1 HG03710.hp2 NA18954.hp2 NA18963.hp2 NA18965.hp2 NA18969.hp1 NA19001.hp1 NA19063.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 others(15): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0104 a0001c0001t0001g0252 a0001c0001t0001g0264 a0001c0001t0002g0109 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0159 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0192 a0002c0002t0001g0337 a0002c0002t0003g0114	18	342	0.0526	15	c.239 others(34): Show c.239-18847_239-18846insATGTTATGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACAAAC others(8): Show TAACAAACATAACATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(29): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01167.hp2 HG01256.hp2 HG01346.hp1 HG01943.hp1 HG02004.hp2 HG02083.hp1 HG02258.hp1 HG02258.hp2 HG03669.hp2 NA18949.hp2 NA18952.hp2 NA18964.hp2 NA18972.hp2 NA18977.hp1 NA18986.hp2 NA19000.hp2 NA19009.hp2 NA19056.hp2 NA19063.hp2 NA19068.hp1 NA19087.hp2 NA19088.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 others(29): Show a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0035 a0001c0001t0001g0201 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0312 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0002g0003 a0001c0001t0002g0134 a0001c0001t0002g0153 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0174 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0319 a0001c0001t0003g0210	32	342	0.0936	15	c.239 others(34): Show c.239-18848_239-18847insTATGTTATGTTTGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139092414	T T	TAACATAA others(8): Show TAACATAACAAACATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01074.hp2 HG02622.hp2 others(6): Show HG00621.hp1 HG01074.hp2 HG02622.hp2 HG02723.hp1 HG04204.hp2 NA18944.hp1 NA18974.hp1 NA18998.hp1 NA19060.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0270 others(6): Show a0001c0001t0001g0058 a0001c0001t0001g0077 a0001c0001t0001g0270 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0002g0073 a0001c0001t0002g0297 a0001c0001t0002g0314 a0002c0002t0002g0113	9	342	0.0263	15	c.239 others(34): Show c.239-18848_239-18847insTATGTTTGTTATGTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(8): Show TCCAGTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp1 HG01891.hp1 others(15): Show HG01515.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp2 HG02155.hp1 HG02486.hp2 HG02630.hp1 HG02647.hp1 HG02976.hp2 HG03492.hp1 NA18959.hp1 NA18961.hp1 NA18961.hp2 NA18970.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0015 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0103 a0001c0001t0001g0217 a0001c0001t0002g0070	18	342	0.0526	15	c.238 others(34): Show c.238+10602_238+10603insTGTGTGTGAGACTGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139121095	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	342	0.0029	15	c.238 others(32): Show c.238+4054_238+4068dupAAAAAAAAAAAAAAA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139122496	T T	TTTTTGTT others(8): Show TTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp2 others(66): Show HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01943.hp1 HG02004.hp2 HG02056.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02165.hp2 HG02523.hp1 HG02615.hp1 HG02895.hp1 HG03239.hp2 HG03831.hp1 HG03834.hp1 NA18612.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19001.hp2 NA19009.hp2 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19085.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0232 others(66): Show a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0281 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0300 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0006g0001 a0001c0001t0007g0283	69	342	0.2018	15	c.238 others(32): Show c.238+2653_238+2667dupCAAAACAAAACAAAA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139134527	T T	TTATTGTA others(8): Show TTATTGTATTGTATTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp1 HG03486.hp2 others(1): Show HG01496.hp2 HG02486.hp1 HG03486.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0002g0124 a0001c0001t0002g0125 others(1): Show a0001c0001t0001g0126 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0003g0127	4	342	0.0117	15	c.72+ others(30): Show c.72+3088_72+3102dupCAATACAATACAATA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139134584	A A	ATTTATTT others(8): Show ATTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	342	0.0029	15	c.72+ others(30): Show c.72+3031_72+3045dupATAAAATAAAATAAA	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	3/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139170716	C C	CATTATAT others(8): Show CATTATATTATATTAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0205 a0002c0002t0002g0205	1	342	0.0029	15	c.-25 others(34): Show c.-252+6236_-252+6250dupATAATATAATATAAT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130101801	A A	AAAAACAA others(8): Show AAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03130.hp1 others(3): Show HG01884.hp1 HG03041.hp1 HG03130.hp1 HG06807.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0001t0018 a0001c0002t0004	a0001c0001t0001g0112 a0001c0001t0001g0250 a0001c0001t0003g0246 others(3): Show a0001c0001t0001g0112 a0001c0001t0001g0250 a0001c0001t0003g0246 a0001c0001t0017g0086 a0001c0001t0018g0095 a0001c0002t0004g0251	6	274	0.0219	15	c.-21 others(34): Show c.-210+8509_-210+8523dupGTTTTGTTTTGTTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF4_chrX_130058955_130115497	130107278	A A	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0157 a0001c0001t0034g0157	1	274	0.0037	15	c.-21 others(34): Show c.-210+3032_-210+3046dupCTTTTCTTTTCTTTT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELFN1_chr7_1665277_1752946	1725547	A A	AGTCACTC others(8): Show AGTCACTCCTGAGAGG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0105 a0001c0001t0011g0105	1	302	0.0033	15	c.-29 others(36): Show c.-294+16298_-294+16312dupCACTCCTGAGAGGGT	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELK3_chr12_96189375_96274824	96228416	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	354	0.0028	15	c.207 others(32): Show c.207+4657_207+4671dupAAAAAAAAAAAAAAA	ELK3	ENSG00000111145.8	transcript	ENST00000228741.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar
ELK4_chr1_205602943_205637011	205604005	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 NA18987.hp2 HG04115.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0056 a0001c0003t0018 a0001c0001t0056 a0001c0003t0018	a0001c0001t0056g0150 a0001c0003t0018g0132 a0001c0001t0056g0150 a0001c0003t0018g0132	2	424	0.0047	15	c.12 others(28): Show c.12526_*12540dupTTTTTTTTTTTTTTT	ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding		3937		chr1	TogoVar
ELL2_chr5_95880098_95966851	95907294	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0266 a0002c0002t0001g0266	1	314	0.0032	15	c.482 others(30): Show c.482-513_482-512insAAAAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG02155.hp2 others(2): Show HG00738.hp2 HG01891.hp1 HG02155.hp2 HG02572.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0079 a0002c0002t0001g0099 a0002c0002t0001g0111 others(2): Show a0002c0002t0001g0079 a0002c0002t0001g0099 a0002c0002t0001g0111 a0002c0002t0001g0114 a0002c0002t0001g0125	5	314	0.0159	15	c.482 others(30): Show c.482-515_482-514insAAAAAAAAAAAAATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(69): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00544.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01255.hp2 HG01346.hp1 HG01928.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02074.hp1 HG02109.hp2 HG02523.hp1 HG02615.hp1 HG02818.hp1 HG03098.hp1 HG03130.hp2 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18962.hp1 NA18965.hp2 NA18973.hp1 NA18977.hp1 NA18980.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp1 NA18997.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19072.hp1 NA19074.hp2 NA19075.hp1 NA19077.hp1 NA19086.hp2 NA19087.hp1 NA19090.hp1 NA20805.hp1	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0002c0008 a0003c0015 others(1): Show a0002c0002 a0002c0008 a0003c0015 a0004c0007	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0013 a0002c0002t0019 a0002c0002t0020 a0002c0002t0022 a0002c0008t0001 a0003c0015t0001 a0004c0007t0001	a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0051 others(66): Show a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0051 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0092 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0106 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0148 a0002c0002t0001g0238 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0285 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0002g0080 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0006g0057 a0002c0002t0006g0087 a0002c0002t0006g0105 a0002c0002t0009g0052 a0002c0002t0009g0054 a0002c0002t0009g0115 a0002c0002t0013g0061 a0002c0002t0013g0062 a0002c0002t0019g0091 a0002c0002t0020g0050 a0002c0002t0022g0113 a0002c0008t0001g0104 a0003c0015t0001g0302 a0004c0007t0001g0101 a0004c0007t0001g0107 a0004c0007t0001g0108	72	314	0.2293	15	c.482 others(30): Show c.482-515_482-514insAAAAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95948429	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	314	0.0032	15	c.148 others(32): Show c.148-5395_148-5381dupTTTTTTTTTTTTTTT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02970.hp2 HG02738.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0001 a0001c0015t0001 a0001c0001t0001 a0001c0015t0001	a0001c0001t0001g0187 a0001c0015t0001g0220 a0001c0001t0001g0187 a0001c0015t0001g0220	2	244	0.0082	15	c.870 others(32): Show c.870-3207_870-3193dupTTTTTTTTTTTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462366	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGGGCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	244	0.0041	15	c.470 others(30): Show c.470-515_470-514insCGCCCACACACACAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18462366	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGGC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0194 a0001c0001t0017g0194	1	244	0.0041	15	c.470 others(30): Show c.470-515_470-514insGCCACACACACACAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	4/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482763	T T	TTTGTTGT others(8): Show TTTGTTGTTGTTGTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02257.hp2 HG02486.hp1 others(6): Show HG02055.hp1 HG02257.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02809.hp1 HG02970.hp1 HG03516.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0001 a0002c0002t0005 a0001c0001t0011 a0002c0002t0001 a0002c0002t0005	a0001c0001t0011g0115 a0002c0002t0001g0015 a0002c0002t0001g0125 others(6): Show a0001c0001t0011g0115 a0002c0002t0001g0015 a0002c0002t0001g0125 a0002c0002t0001g0132 a0002c0002t0001g0136 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0005g0117	9	244	0.0369	15	c.136 others(32): Show c.136-9896_136-9882dupCAACAACAACAACAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18482794	T T	TTGTTGTT others(8): Show TTGTTGTTGTTGCTGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03471.hp2 NA18906.hp2 others(6): Show HG02886.hp1 HG03471.hp2 NA18906.hp2 NA18945.hp2 NA19002.hp2 NA19063.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0004 a0009c0016 a0001c0001 a0001c0004 a0009c0016	a0001c0001t0001 a0001c0004t0006 a0009c0016t0001 a0001c0001t0001 a0001c0004t0006 a0009c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0149 a0001c0001t0001g0173 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0149 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0217 a0001c0001t0001g0234 a0001c0004t0006g0157 a0001c0004t0006g0158 a0009c0016t0001g0011	9	244	0.0369	15	c.136 others(32): Show c.136-9913_136-9912insGCAGCAACAACAACA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(8): Show CTCTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0070 a0001c0002t0001g0070	1	92	0.0109	15	c.65 others(26): Show c.6525_*6526insAAAAAAAAAAAAAGA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding		3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03453.hp2 HG03471.hp1 others(1): Show HG02630.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0006 a0001c0007t0001	a0001c0001t0001g0005 a0001c0001t0006g0004 a0001c0002t0006g0014 others(1): Show a0001c0001t0001g0005 a0001c0001t0006g0004 a0001c0002t0006g0014 a0001c0007t0001g0015	4	92	0.0435	15	c.143 others(34): Show c.1438-4682_1438-4668dupAAAAAAAAAAAAAAA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar

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