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
EFCAB6_chr22_43523778_43817305	43589280	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0148 a0010c0010t0001g0148	1	29	0.0345	-19	c.303 others(36): Show c.3032+775_3032+793delTTTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43722769	CACTATTC others(12): Show CACTATTCACCATAGCAAAG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG03209.hp2 HG01081.hp1 HG03209.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0208 a0001c0013t0001g0233 a0001c0013t0001g0208 a0001c0013t0001g0233	2	288	0.0069	-19	c.758 others(36): Show c.758-5816_758-5798delCTTTGCTATGGTGAATAGT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB7_chr1_63518525_63577693	63562476	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0044 a0004c0006t0001g0044	1	372	0.0027	-19	c.149 others(36): Show c.1497+621_1497+639delTATATATATATATATATAA	EFCAB7	ENSG00000203965.13	transcript	ENST00000371088.5	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFHC2_chrX_44142872_44348672	44147112	GCAGTTGT others(12): Show GCAGTTGTCACCCCACAACT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02965.hp1 NA20129.hp1 others(2): Show HG02145.hp1 HG02965.hp1 NA20129.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0001 a0001c0001t0006 a0001c0001t0010	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0210 a0001c0001t0006g0002 a0001c0001t0010g0131	5	219	0.0228	-19	c.16 others(30): Show c.1664_*1682delAGTTGTGGGGTGACAACTG	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding		759		chrX	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18969.hp1 NA18969.hp2 others(1): Show HG02280.hp1 NA18969.hp1 NA18969.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0003g0208 a0001c0001t0005g0081 a0001c0001t0005g0179 others(1): Show a0001c0001t0003g0208 a0001c0001t0005g0081 a0001c0001t0005g0179 a0001c0001t0010g0070	4	18	0.2222	-19	c.607 others(36): Show c.607-1171_607-1153delTTTTTTTTTTTTTTTTTTT	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14			chrX	TogoVar
EFHC2_chrX_44142872_44348672	44282628	GGGGGGGG others(12): Show GGGGGGGGGTGGGGGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG03098.hp1 others(1): Show HG02572.hp1 HG02818.hp2 HG03098.hp1 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0008 a0006c0007t0002 a0001c0001t0008 a0006c0007t0002	a0001c0001t0008g0202 a0006c0007t0002g0024 a0006c0007t0002g0025 others(1): Show a0001c0001t0008g0202 a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203	4	213	0.0188	-19	c.232 others(36): Show c.232-9811_232-9793delACCCCCCCCCACCCCCCCC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFL1_chr15_82125233_82267734	82185044	CCTGCTAC others(12): Show CCTGCTACAATGGATTTTGT	C C	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	366	0.0027	-19	c.175 others(40): Show c.1751-21079_1751-21061delACAAAATCCATTGTAGCAG	EFL1	ENSG00000140598.16	transcript	ENST00000268206.12	protein_coding	15/19			chr15	TogoVar
EFNA5_chr5_107371894_107675937	107474776	TGCTGGCT others(12): Show TGCTGGCTGACCTGCCAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01106.hp2 others(12): Show HG00099.hp1 HG00738.hp1 HG01106.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG02615.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0041 a0001c0001t0079	a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0002g0028 others(12): Show a0001c0001t0001g0144 a0001c0001t0001g0184 a0001c0001t0002g0028 a0001c0001t0004g0004 a0001c0001t0004g0040 a0001c0001t0004g0100 a0001c0001t0007g0033 a0001c0001t0010g0107 a0001c0001t0014g0156 a0001c0001t0032g0131 a0001c0001t0034g0102 a0001c0001t0035g0129 a0001c0001t0038g0186 a0001c0001t0041g0171 a0001c0001t0079g0030	15	190	0.0789	-19	c.126 others(38): Show c.126-47286_126-47268delCTCTGGCAGGTCAGCCAGC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB2_chr13_106484745_106540662	106504403	CATGGACA others(12): Show CATGGACACACACAGCTTAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0263 a0001c0001t0053g0263	1	354	0.0028	-19	c.406 others(36): Show c.406+8107_406+8125delCTAAGCTGTGTGTGTCCAT	EFNB2	ENSG00000125266.8	transcript	ENST00000646441.1	protein_coding	2/4			chr13	TogoVar
EGFR_chr7_55014017_55216628	55027986	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0117 a0001c0004t0003g0117	1	248	0.0040	-19	c.88+ others(34): Show c.88+8623_88+8641delAAAAATATATATATATATA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55027988	AAAAATAT others(12): Show AAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp2 HG03130.hp1 others(3): Show HG02451.hp1 HG02976.hp2 HG03130.hp1 HG03704.hp1 HG04228.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0001c0019 a0001c0024 others(3): Show a0001c0011 a0001c0019 a0001c0024 a0002c0008 a0002c0017 a0002c0026	a0001c0011t0039 a0001c0019t0006 a0001c0024t0001 others(3): Show a0001c0011t0039 a0001c0019t0006 a0001c0024t0001 a0002c0008t0047 a0002c0017t0007 a0002c0026t0003	a0001c0011t0039g0091 a0001c0019t0006g0095 a0001c0024t0001g0190 others(3): Show a0001c0011t0039g0091 a0001c0019t0006g0095 a0001c0024t0001g0190 a0002c0008t0047g0115 a0002c0017t0007g0188 a0002c0026t0003g0114	6	247	0.0243	-19	c.88+ others(34): Show c.88+8625_88+8643delAAATATATATATATATATA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55027990	AAATATAT others(12): Show AAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01255.hp1 others(14): Show HG01167.hp2 HG01169.hp2 HG01255.hp1 HG02129.hp1 HG02280.hp2 HG02622.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03453.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18949.hp2 NA18983.hp1 NA18983.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(8): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0011 a0001c0016 a0001c0040 a0002c0002 a0002c0006 a0002c0009 a0002c0038	a0001c0001t0011 a0001c0001t0034 a0001c0003t0016 others(11): Show a0001c0001t0011 a0001c0001t0034 a0001c0003t0016 a0001c0004t0048 a0001c0007t0005 a0001c0011t0007 a0001c0016t0001 a0001c0016t0002 a0001c0040t0007 a0002c0002t0001 a0002c0002t0050 a0002c0006t0005 a0002c0009t0002 a0002c0038t0001	a0001c0001t0011g0189 a0001c0001t0034g0195 a0001c0003t0016g0200 others(14): Show a0001c0001t0011g0189 a0001c0001t0034g0195 a0001c0003t0016g0200 a0001c0004t0048g0088 a0001c0007t0005g0005 a0001c0011t0007g0105 a0001c0016t0001g0192 a0001c0016t0002g0186 a0001c0040t0007g0193 a0002c0002t0001g0196 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0050g0199 a0002c0006t0005g0197 a0002c0006t0005g0198 a0002c0009t0002g0191 a0002c0038t0001g0092	17	221	0.0769	-19	c.88+ others(34): Show c.88+8627_88+8645delATATATATATATATATATA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55027992	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0187 a0002c0009t0002g0187	1	235	0.0043	-19	c.88+ others(34): Show c.88+8628_88+8646delTATATATATATATATATAT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27			chr7	TogoVar
EGLN1_chr1_231358756_231427287	231412011	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	58	0.0172	-19	c.891 others(36): Show c.891+8968_891+8986delTTTTTTTTTTTTTTTTTTT	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding	1/4			chr1	TogoVar
EHD4_chr15_41890933_41977557	41959395	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01175.hp1 HG01243.hp1 others(41): Show HG01074.hp2 HG01175.hp1 HG01243.hp1 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG02056.hp1 HG02129.hp1 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG03017.hp1 HG03239.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp1 NA18965.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18977.hp2 NA18983.hp1 NA18984.hp1 NA18988.hp1 NA18990.hp1 NA18992.hp2 NA19009.hp2 NA19056.hp1 NA19065.hp2 NA19081.hp2 NA19084.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0021 a0001c0001t0033 a0001c0001t0052 a0001c0002t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0002t0012 a0001c0002t0013 a0001c0003t0007 a0001c0003t0050 a0001c0007t0017 a0001c0008t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0046 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0002g0061 a0001c0001t0002g0068 a0001c0001t0002g0073 a0001c0001t0021g0081 a0001c0001t0033g0057 a0001c0001t0052g0064 a0001c0002t0001g0063 a0001c0002t0003g0045 a0001c0002t0003g0049 a0001c0002t0003g0072 a0001c0002t0003g0079 a0001c0002t0003g0082 a0001c0002t0005g0067 a0001c0002t0010g0070 a0001c0002t0010g0071 a0001c0002t0012g0074 a0001c0002t0013g0053 a0001c0003t0007g0051 a0001c0003t0050g0048 a0001c0007t0017g0044 a0001c0008t0003g0050 a0001c0008t0003g0052 a0001c0008t0003g0075	44	135	0.3259	-19	c.237 others(36): Show c.237-5474_237-5456delTTTTTTTTTTTTTTTTTTT	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	1/5			chr15	TogoVar
EHF_chr11_34616093_34668288	34618581	TTATCTAT others(12): Show TTATCTATCTATCATCTATC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0205 a0001c0001t0060g0205	1	400	0.0025	-19	c.-26 others(30): Show c.-2650_-2632delTATCTATCTATCATCTATC	EHF	ENSG00000135373.13	transcript	ENST00000257831.8	protein_coding		2511		chr11	TogoVar
EIF2AK2_chr2_37094210_37161980	37157121	GGGCGGGC others(12): Show GGGCGGGCTTGGCACCGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01099.hp1 others(11): Show HG00738.hp2 HG01074.hp1 HG01099.hp1 HG01243.hp2 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03516.hp1 HG03516.hp2 NA19240.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 others(5): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0050 a0001c0001t0076 a0001c0003t0015 a0001c0003t0064 a0001c0003t0065	a0001c0001t0006g0187 a0001c0001t0011g0201 a0001c0001t0011g0260 others(11): Show a0001c0001t0006g0187 a0001c0001t0011g0201 a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0280 a0001c0001t0013g0302 a0001c0001t0013g0303 a0001c0001t0013g0304 a0001c0001t0013g0305 a0001c0001t0050g0259 a0001c0001t0076g0306 a0001c0003t0015g0024 a0001c0003t0064g0291 a0001c0003t0065g0290	14	324	0.0432	-19	c.-41 others(28): Show c.-416_-398delTGCCGGTGCCAAGCCCGCC	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding		142		chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	40017502	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0264 a0004c0007t0001g0264	1	366	0.0027	-19	c.406 others(36): Show c.4065+261_4065+279delATATATATATATATATATA	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38			chr15	TogoVar
EIF3F_chr11_7982337_8006852	7993435	AGGATGAC others(12): Show AGGATGACTGTCCTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02155.hp1 HG02040.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	392	0.0051	-19	c.653 others(34): Show c.653+413_653+431delGATGACTGTCCTTATTTTG	EIF3F	ENSG00000175390.15	transcript	ENST00000651655.1	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
EIF4A1_chr17_7567825_7584006	7581869	GAGCCGTC others(12): Show GAGCCGTCATCGCGCCACTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0003	1	434	0.0023	-19	c.33 others(30): Show c.3384_*3402delAGCCGTCATCGCGCCACTA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		2864		chr17	TogoVar
EIF4EBP2_chr10_70399145_70433618	70419385	GCTGTGAG others(12): Show GCTGTGAGAAGAATGTTAGT	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03710.hp2 HG02735.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0159 a0001c0002t0006g0168 a0001c0002t0006g0159 a0001c0002t0006g0168	2	420	0.0048	-19	c.146 others(34): Show c.146-526_146-508delGTGAGAAGAATGTTAGTCT	EIF4EBP2	ENSG00000148730.7	transcript	ENST00000373218.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18956.hp2 NA18960.hp1 others(3): Show HG03710.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA19000.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 others(3): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0013g0210	6	13	0.4615	-19	c.60- others(32): Show c.60-789_60-771delTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201186	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	123	0.0081	-19	c.58 others(30): Show c.5879_*5897delTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4091		chr7	TogoVar
EIPR1_chr2_3183970_3382818	3315169	CCACCCCC others(12): Show CCACCCCCTACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01255.hp1 HG01515.hp1 others(3): Show HG01099.hp1 HG01255.hp1 HG01515.hp1 HG02723.hp1 HG02922.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0002g0022 a0001c0001t0002g0096 others(3): Show a0001c0001t0001g0017 a0001c0001t0002g0022 a0001c0001t0002g0096 a0001c0001t0003g0036 a0001c0001t0003g0221 a0001c0001t0003g0222	6	111	0.0541	-19	c.259 others(38): Show c.259+22829_259+22847delATGGTGGTGGTAGGGGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022541	TTTCTTTC others(12): Show TTTCTTTCTCTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0056 a0001c0001t0018g0056	1	386	0.0026	-19	c.-46 others(30): Show c.-4613_-4595delGAAAGAAAGAGAGAAAGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4515		chr17	TogoVar
ELAC2_chr17_12986612_13023027	13022545	TTTCTCTC others(12): Show TTTCTCTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0234 a0001c0001t0032g0234	1	398	0.0025	-19	c.-46 others(30): Show c.-4617_-4599delGAAAGAAAGAAAGAGAGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4519		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp2 HG02559.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0350 a0001c0001t0001g0105 a0001c0001t0001g0350	2	33	0.0606	-19	c.713 others(36): Show c.713+1548_713+1566delAAAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01070.hp2 HG01361.hp1 others(23): Show HG00558.hp1 HG01070.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01934.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02257.hp1 HG02559.hp2 HG02922.hp1 HG03688.hp1 HG03834.hp1 HG04199.hp1 NA18522.hp1 NA18941.hp2 NA18950.hp2 NA18954.hp2 NA18964.hp1 NA18966.hp2 NA18990.hp2 NA19058.hp2 NA19060.hp2 NA19072.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0015 a0001c0001t0020	a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 others(23): Show a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0001t0001g0254 a0001c0001t0001g0261 a0001c0001t0001g0306 a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0003g0096 a0001c0001t0003g0249 a0001c0001t0003g0341 a0001c0001t0004g0049 a0001c0001t0004g0083 a0001c0001t0004g0146 a0001c0001t0004g0172 a0001c0001t0015g0246 a0001c0001t0020g0097	26	27	0.9630	-19	c.-15 others(38): Show c.-15-17749_-15-17731delTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23786188	TTTAAAAA others(12): Show TTTAAAAAGTAACATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	350	0.0029	-19	c.-15 others(38): Show c.-15-23958_-15-23940delTTTCTATGTTACTTTTTAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELF1_chr13_40926924_41024316	41012689	GTGTGACA others(12): Show GTGTGACACCACACCTGGCT	G G	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	360	0.0028	-19	c.-22 others(38): Show c.-229+6520_-229+6538delAGCCAGGTGTGGTGTCACA	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139092395	AACATAAC others(12): Show AACATAACATAACATAACAT	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	340	0.0029	-19	c.239 others(38): Show c.239-18847_239-18829delATGTTATGTTATGTTATGT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151029	AAAAAAAG others(12): Show AAAAAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	338	0.0030	-19	c.-25 others(40): Show c.-251-11551_-251-11533delCTTTCTTTCTTTCTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139151033	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	301	0.0033	-19	c.-25 others(40): Show c.-251-11555_-251-11537delCTTTCTTTCTTTCTTTCTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139156119	GACACTGA others(12): Show GACACTGAGTTATCCAGTTA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	340	0.0029	-19	c.-25 others(40): Show c.-251-16641_-251-16623delTAACTGGATAACTCAGTGT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELFN2_chr22_37362960_37432479	37365942	TTGAGCAC others(12): Show TTGAGCACTTACGAATAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03209.hp2 NA20129.hp2 HG02055.hp2 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0041 a0001c0003t0043 a0001c0006t0047 a0001c0003t0041 a0001c0003t0043 a0001c0006t0047	a0001c0003t0041g0164 a0001c0003t0043g0231 a0001c0006t0047g0204 a0001c0003t0041g0164 a0001c0003t0043g0231 a0001c0006t0047g0204	3	332	0.0090	-19	c.71 others(30): Show c.7111_*7129delGTTTATTCGTAAGTGCTCA	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding		2017		chr22	TogoVar
ELL_chr19_18437663_18527070	18445535	CGTGGGGG others(12): Show CGTGGGGGGGTGGGGAGGGG	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	242	0.0041	-19	c.170 others(36): Show c.1705-286_1705-268delCCCCTCCCCACCCCCCCAC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	10/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp2 HG01516.hp1 others(13): Show HG01109.hp1 HG01167.hp2 HG01516.hp1 HG02622.hp1 HG02647.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 NA18906.hp2 NA19043.hp1 NA19063.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 a0001c0001 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0018 a0001c0004t0006 a0001c0005t0007	a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0157 others(13): Show a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0157 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0004g0152 a0001c0001t0017g0189 a0001c0001t0018g0196 a0001c0004t0006g0170 a0001c0004t0006g0171 a0001c0004t0006g0172 a0001c0005t0007g0174 a0001c0005t0007g0175 a0001c0005t0007g0176	16	69	0.2319	-19	c.136 others(38): Show c.136-18386_136-18368delAAAAAAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELN_chr7_74023173_74074907	74032165	GATTCTAA others(12): Show GATTCTAAGATGCAAGAGAC	G G	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0327 a0001c0001t0005g0327	1	366	0.0027	-19	c.83- others(34): Show c.83-3197_83-3179delTTCTAAGATGCAAGAGACA	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOA_chr1_23738471_23767059	23758247	ATTTATTT others(12): Show ATTTATTTATTTATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0014 a0003c0004t0014	a0003c0004t0014g0060 a0003c0004t0014g0060	1	381	0.0026	-19	c.225 others(38): Show c.2257+1126_2257+1144delATTTATTTATTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(12): Show ATTTATTTATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA20805.hp2 HG00438.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0003 a0002c0003t0001g0113 a0001c0001t0001g0003 a0002c0003t0001g0113	2	306	0.0065	-19	c.225 others(38): Show c.2257+1130_2257+1148delATTTATTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00408.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0067 a0001c0001t0020g0026 a0001c0001t0001g0067 a0001c0001t0020g0026	2	8	0.2500	-19	c.56 others(30): Show c.5634_*5652delTTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOVL5_chr6_53262404_53353950	53302080	TGAATTCG others(12): Show TGAATTCGAGAGAAAGACTG	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	318	0.0031	-19	c.-8- others(34): Show c.-8-6392_-8-6374delCAGTCTTTCTCTCGAATTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp2 HG01243.hp1 others(7): Show HG01069.hp2 HG01081.hp2 HG01243.hp1 HG02257.hp2 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02976.hp1 NA18987.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0061 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0054 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0143	10	19	0.5263	-19	c.-8- others(36): Show c.-8-23582_-8-23564delTTTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084024	TGCCATAT others(12): Show TGCCATATATGGTATATAAC	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG02300.hp1 HG00735.hp1 HG01934.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0034 a0001c0001t0002 a0001c0001t0007 a0001c0001t0034	a0001c0001t0002g0184 a0001c0001t0007g0082 a0001c0001t0034g0329 a0001c0001t0002g0184 a0001c0001t0007g0082 a0001c0001t0034g0329	3	335	0.0090	-19	c.221 others(38): Show c.221+21454_221+21472delGTTATATACCATATATGGC	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELP1_chr9_108862517_108939124	108872803	TGAAAAAA others(12): Show TGAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0008 a0006c0006t0008	a0006c0006t0008g0357 a0006c0006t0008g0357	1	268	0.0037	-19	c.393 others(38): Show c.3931+2073_3931+2091delTTTTTTTTTTTTTTTTTTC	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36			chr9	TogoVar
ELP1_chr9_108862517_108939124	108900875	CCACACAC others(12): Show CCACACACACATACACGCCA	C C	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0018 a0002c0003t0018	a0002c0003t0018g0113 a0002c0003t0018g0113	1	393	0.0025	-19	c.201 others(36): Show c.2015-519_2015-501delTGGCGTGTATGTGTGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELP3_chr8_28088139_28196153	28188356	CAAGGGGC others(12): Show CAAGGGGCATCTTTTGTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(78): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp2 HG02004.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp2 HG02738.hp2 HG02809.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18954.hp2 NA18961.hp2 NA18970.hp1 NA18977.hp1 NA18999.hp2 NA19055.hp2 NA19084.hp2 NA19086.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020	a0001c0001t0001g0034 a0001c0001t0003g0005 a0001c0001t0003g0011 others(67): Show a0001c0001t0001g0034 a0001c0001t0003g0005 a0001c0001t0003g0011 a0001c0001t0003g0028 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0173 a0001c0001t0003g0176 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0198 a0001c0001t0003g0202 a0001c0001t0003g0215 a0001c0001t0003g0219 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0287 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0295 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0319 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0012g0325 a0001c0001t0013g0329 a0001c0001t0015g0309 a0001c0001t0017g0041 a0001c0001t0020g0137	81	396	0.2045	-19	c.156 others(38): Show c.1568-1290_1568-1272delGGGGCATCTTTTGTTCTAA	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31794404	AACACACA others(12): Show AACACACACACACACACCAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01261.hp1 HG00642.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0145 a0001c0001t0003g0209 a0001c0001t0001g0145 a0001c0001t0003g0209	2	264	0.0076	-19	c.10 others(32): Show c.10881_*10899delACACACACACACACACCAC	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4081		chr11	TogoVar
ELP5_chr17_7247215_7264937	7251141	TGTCCCCA others(12): Show TGTCCCCAACACCGCCAGAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02630.hp2 HG02976.hp1 others(2): Show HG02257.hp2 HG02630.hp2 HG02976.hp1 HG03209.hp1 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0054 a0002c0002t0001g0009 a0002c0002t0001g0054	5	410	0.0122	-19	c.-14 others(30): Show c.-1409_-1391delGTCCCCAACACCGCCAGAC	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding		1073		chr17	TogoVar
ELSPBP1_chr19_47989632_48030154	48016513	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTCC	T T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	386	0.0026	-19	c.355 others(34): Show c.355+478_355+496delTTTCTTTCTTTCTTCCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar

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