Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EHD2_chr19_47708422_47748134	47724981	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG03195.hp2 HG03209.hp2 others(1): Show HG02165.hp1 HG03195.hp2 HG03209.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0299 a0001c0001t0010g0345 a0001c0001t0010g0351 others(1): Show a0001c0001t0010g0299 a0001c0001t0010g0345 a0001c0001t0010g0351 a0001c0002t0002g0171	4	398	0.0101	-18	c.503 others(33): Show c.503-810_503-793delAAAAAAAAAAAAAAAAAA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD4_chr15_41890933_41977557	41907824	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0024 a0001c0001t0002g0029	2	360	0.0056	-18	c.108 others(37): Show c.1089+1857_1089+1874delCACACACACACACACACA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	5/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41907856	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0048 a0001c0002t0048	a0001c0002t0048g0034 a0001c0002t0048g0034	1	360	0.0028	-18	c.108 others(37): Show c.1089+1825_1089+1842delTATACACACACACACACA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	5/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41949016	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02559.hp1 others(4): Show HG01884.hp1 HG02055.hp2 HG02559.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 others(3): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0002t0038 a0001c0002t0041 a0001c0004t0006	a0001c0002t0004g0041 a0001c0002t0005g0042 a0001c0002t0013g0038 others(4): Show a0001c0002t0004g0041 a0001c0002t0005g0042 a0001c0002t0013g0038 a0001c0002t0013g0040 a0001c0002t0038g0039 a0001c0002t0041g0044 a0001c0004t0006g0037	7	360	0.0194	-18	c.413 others(35): Show c.413+4730_413+4747delTATATATATATATATATA	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding	2/5			chr15	TogoVar
EHD4_chr15_41890933_41977557	41976018	TGTGTTCT others(11): Show TGTGTTCTGTATCCATGGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	360	0.0028	-18	c.-35 others(29): Show c.-3542_-3525delTCCATGGATACAGAACAC	EHD4	ENSG00000103966.11	transcript	ENST00000220325.9	protein_coding		3462		chr15	TogoVar
EHMT1_chr9_137614005_137841127	137780380	ATGACGCT others(11): Show ATGACGCTGGGATGTGTGG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0150 a0001c0008t0001g0150	1	170	0.0059	-18	c.227 others(35): Show c.2275+667_2275+684delCGCTGGGATGTGTGGTGA	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EI24_chr11_125564477_125589684	125584229	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0070 a0001c0002t0031g0070	1	362	0.0028	-18	c.56 others(27): Show c.562_*579delAAAAAAAAAAAAAAAAAA	EI24	ENSG00000149547.15	transcript	ENST00000278903.11	protein_coding	11/11	562	INFO_REALIGN_3_PRIME	chr11	TogoVar
EIF2AK2_chr2_37094210_37161980	37145742	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03516.hp2 HG02976.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0076 a0001c0003t0015 a0001c0001t0076 a0001c0003t0015	a0001c0001t0076g0307 a0001c0003t0015g0021 a0001c0001t0076g0307 a0001c0003t0015g0021	2	326	0.0061	-18	c.240 others(35): Show c.240+1093_240+1110delAAAAAAAAAAAAAAAAAA	EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding	4/16			chr2	TogoVar
EIF2AK3_chr2_88551741_88632464	88559510	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	366	0.0027	-18	c.308 others(35): Show c.3088-549_3088-532delCACACACACACACACACA	EIF2AK3	ENSG00000172071.15	transcript	ENST00000303236.9	protein_coding	15/16			chr2	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	CTATATAT others(11): Show CTATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(17): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00741.hp1 HG01255.hp2 HG01496.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02615.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03516.hp1 NA18992.hp2 NA18995.hp1 NA19075.hp2 NA19081.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0010	a0001c0001 a0001c0005 a0002c0002 others(5): Show a0001c0001 a0001c0005 a0002c0002 a0002c0004 a0002c0013 a0004c0007 a0006c0035 a0010c0017	a0001c0001t0002 a0001c0005t0001 a0001c0005t0005 others(10): Show a0001c0001t0002 a0001c0005t0001 a0001c0005t0005 a0002c0002t0001 a0002c0004t0001 a0002c0004t0002 a0002c0004t0004 a0002c0004t0005 a0002c0013t0001 a0004c0007t0001 a0004c0007t0002 a0006c0035t0005 a0010c0017t0005	a0001c0001t0002g0128 a0001c0005t0001g0125 a0001c0005t0005g0108 others(17): Show a0001c0001t0002g0128 a0001c0005t0001g0125 a0001c0005t0005g0108 a0001c0005t0005g0123 a0001c0005t0005g0124 a0001c0005t0005g0154 a0002c0002t0001g0284 a0002c0004t0001g0258 a0002c0004t0002g0315 a0002c0004t0004g0331 a0002c0004t0005g0238 a0002c0013t0001g0283 a0004c0007t0001g0213 a0004c0007t0001g0214 a0004c0007t0001g0217 a0004c0007t0001g0228 a0004c0007t0002g0215 a0006c0035t0005g0122 a0010c0017t0005g0239 a0010c0017t0005g0241	20	368	0.0544	-18	c.406 others(35): Show c.4065+295_4065+312delATATATATATATATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B1_chr12_123615406_123638686	123620580	TTATATAT others(11): Show TTATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0055 a0001c0001t0039g0055	1	322	0.0031	-18	c.11 others(29): Show c.1158_*1175delTATATATATATATATATA	EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding	9/9	1158		chr12	TogoVar
EIF2B3_chr1_44845522_44991595	44917755	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG01884.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0281 a0001c0002t0001g0240 a0001c0001t0001g0281 a0001c0002t0001g0240	2	322	0.0062	-18	c.566 others(35): Show c.566+8855_566+8872delAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	5/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44943368	CTATCTAT others(11): Show CTATCTATATCTATATCTA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02258.hp1 HG01516.hp1 HG01517.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0254 a0001c0001t0001g0309 a0001c0001t0001g0317	3	322	0.0093	-18	c.295 others(35): Show c.295-1721_295-1704delTAGATATAGATATAGATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504456	GATATATA others(11): Show GATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0011 a0006c0007t0011	a0006c0007t0011g0000 a0006c0007t0011g0000	1	422	0.0024	-18	c.-14 others(29): Show c.-1446_-1429delATATATATATATATATAT	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1433		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119066505	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03041.hp2 HG03195.hp1 others(1): Show HG02976.hp1 HG03041.hp2 HG03195.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0005 a0001c0006t0007 a0001c0002t0005 a0001c0006t0007	a0001c0002t0005g0316 a0001c0006t0007g0305 a0001c0006t0007g0306 others(1): Show a0001c0002t0005g0316 a0001c0006t0007g0305 a0001c0006t0007g0306 a0001c0006t0007g0307	4	350	0.0114	-18	c.951 others(33): Show c.951-953_951-936delTTTTTTTTTTTTTTTTTT	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	6/21			chr10	TogoVar
EIF3B_chr7_2349827_2385745	2355610	CCCCTTTT others(11): Show CCCCTTTTCTTTCCTGAAA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0020 a0004c0006t0001g0021 a0004c0006t0001g0020 a0004c0006t0001g0021	2	384	0.0052	-18	c.499 others(33): Show c.499+191_499+208delCCCTTTTCTTTCCTGAAA	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	1/18			chr7	TogoVar
EIF3B_chr7_2349827_2385745	2369765	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0360 a0001c0001t0004g0360	1	384	0.0026	-18	c.161 others(34): Show c.1614+96_1614+113delTTTTTTTTTTTTTTTTTT	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF3E_chr8_108196216_108253717	108204764	GAGAGAGA others(11): Show GAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02976.hp1 HG03139.hp2 NA19030.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011	a0001c0001t0004g0021 a0001c0001t0004g0167 a0001c0001t0004g0170 others(5): Show a0001c0001t0004g0021 a0001c0001t0004g0167 a0001c0001t0004g0170 a0001c0001t0004g0173 a0001c0001t0007g0168 a0001c0001t0007g0169 a0001c0001t0007g0172 a0001c0001t0011g0171	8	348	0.0230	-18	c.106 others(37): Show c.1062-1279_1062-1262delGTCTCTCTCTCTCTCTCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3G_chr19_10110014_10124899	10115859	ACTGCCCA others(11): Show ACTGCCCAGCCCTCGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02132.hp2 HG02257.hp1 others(6): Show HG00140.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02976.hp1 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0008 a0001c0002 a0001c0004 a0002c0008	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0002c0008t0001	a0001c0002t0001g0014 a0001c0002t0002g0036 a0001c0004t0001g0046 others(1): Show a0001c0002t0001g0014 a0001c0002t0002g0036 a0001c0004t0001g0046 a0002c0008t0001g0061	9	458	0.0197	-18	c.704 others(31): Show c.704-57_704-40delCACACGAGGGCTGGGCAG	EIF3G	ENSG00000130811.12	transcript	ENST00000253108.9	protein_coding	8/10			chr19	TogoVar
EIF3H_chr8_116637130_116760823	116743793	TATATAAA others(11): Show TATATAAACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	336	0.0030	-18	c.132 others(37): Show c.132+11855_132+11872delGTGTGTGTGTGTTTATAT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3J_chr15_44532147_44567803	44540251	ATATATAT others(11): Show ATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG02965.hp1 HG03209.hp2 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0222 others(1): Show a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0002g0222 a0001c0001t0002g0224	4	292	0.0137	-18	c.147 others(35): Show c.147+2826_147+2843delATATATATATATATATTT	EIF3J	ENSG00000104131.13	transcript	ENST00000261868.10	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(11): Show TTATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG02273.hp1 HG02300.hp1 others(3): Show HG01496.hp2 HG02273.hp1 HG02300.hp1 HG03490.hp2 NA18989.hp1 NA18999.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0003g0036 a0001c0002t0001g0002 a0001c0002t0001g0021 a0001c0002t0003g0036	6	436	0.0138	-18	c.-10 others(28): Show c.-1004_-987delTATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571892	TATATATA others(11): Show TATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02615.hp2 NA18960.hp2 others(2): Show HG01123.hp1 HG02615.hp2 NA18960.hp2 NA18977.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0003 a0001c0002t0001 a0001c0003t0002 a0001c0001t0003 a0001c0002t0001 a0001c0003t0002	a0001c0001t0003g0006 a0001c0002t0001g0002 a0001c0003t0002g0003 others(1): Show a0001c0001t0003g0006 a0001c0002t0001g0002 a0001c0003t0002g0003 a0001c0003t0002g0012	5	436	0.0115	-18	c.-94 others(27): Show c.-949_-932delATATATATATATATATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		932		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571894	TATATATA others(11): Show TATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	436	0.0046	-18	c.-94 others(27): Show c.-947_-930delATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		930		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80146992	CGCCGCTG others(11): Show CGCCGCTGCCGACCTCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02300.hp2 HG02922.hp1 HG02300.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0061 a0001c0001t0060 a0001c0001t0061	a0001c0001t0060g0189 a0001c0001t0061g0190 a0001c0001t0060g0189 a0001c0001t0061g0190	2	420	0.0048	-18	c.-49 others(25): Show c.-49_-32delAGCGAGGTCGGCAGCGGC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	32		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147029	GTGCCGCT others(11): Show GTGCCGCTGCCGACCTCGC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00621.hp1 HG01167.hp1 HG01169.hp1 others(2): Show HG00621.hp1 HG01167.hp1 HG01169.hp1 HG02683.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0033 a0001c0001t0055 a0001c0001t0029 a0001c0001t0033 a0001c0001t0055	a0001c0001t0029g0047 a0001c0001t0033g0161 a0001c0001t0033g0162 others(1): Show a0001c0001t0029g0047 a0001c0001t0033g0161 a0001c0001t0033g0162 a0001c0001t0055g0160	5	420	0.0119	-18	c.-86 others(25): Show c.-86_-69delGCGAGGTCGGCAGCGGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	69		chr17	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31450844	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02615.hp2 HG02647.hp2 others(2): Show HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02818.hp2 HG03540.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0011 a0001c0005 a0003c0011	a0001c0005t0001 a0003c0011t0001 a0001c0005t0001 a0003c0011t0001	a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0147 others(2): Show a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0147 a0001c0005t0001g0148 a0003c0011t0001g0146	5	366	0.0137	-18	c.151 others(35): Show c.1513-502_1513-485delGTGTGTGTGTGTGTGTGT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	10/18			chr22	TogoVar
EIF4E_chr4_98874276_98934133	98917119	CACACACA others(11): Show CACACACACACACACAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG03139.hp2 HG03225.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0075 a0001c0001t0004g0173 a0001c0001t0004g0186 others(5): Show a0001c0001t0001g0075 a0001c0001t0004g0173 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191	8	300	0.0267	-18	c.18+ others(35): Show c.18+11958_18+11975delTTTTGTGTGTGTGTGTGT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4G1_chr3_184309606_184340353	184319449	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01175.hp2 others(14): Show HG00738.hp1 HG01071.hp1 HG01175.hp2 HG01261.hp1 HG01433.hp2 HG01978.hp2 HG02572.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA19000.hp2 NA19011.hp2 NA19074.hp1 NA20129.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0003 a0004c0008 others(2): Show a0001c0001 a0001c0003 a0004c0008 a0004c0029 a0005c0009	a0001c0001t0001 a0001c0003t0001 a0004c0008t0001 others(2): Show a0001c0001t0001 a0001c0003t0001 a0004c0008t0001 a0004c0029t0001 a0005c0009t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0069 others(11): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0069 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0181 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0003t0001g0053 a0001c0003t0001g0184 a0004c0008t0001g0031 a0004c0029t0001g0063 a0005c0009t0001g0031	17	384	0.0443	-18	c.425 others(33): Show c.425-221_425-204delTGTGTGTGTGTGTGTGTT	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20872809	CCCTGCCT others(11): Show CCCTGCCTCAAGCAATTCT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0275 a0001c0001t0011g0275	1	312	0.0032	-18	c.262 others(37): Show c.2622+6496_2622+6513delAGAATTGCTTGAGGCAGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	20/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20943970	TTTTTTGT others(11): Show TTTTTTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02723.hp2 HG03834.hp2 HG02647.hp1 HG02723.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0161 a0001c0001t0002g0089 a0001c0001t0003g0241 a0001c0001t0001g0161 a0001c0001t0002g0089 a0001c0001t0003g0241	3	312	0.0096	-18	c.824 others(35): Show c.824-1658_824-1641delCACACACACACACAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	20959655	CAATAATA others(11): Show CAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01884.hp2 HG02258.hp2 others(10): Show HG01069.hp1 HG01884.hp2 HG02258.hp2 HG02451.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG03139.hp1 HG06807.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0024	a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0001 others(10): Show a0001c0001t0002g0002 a0001c0001t0002g0039 a0001c0001t0007g0001 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0038 a0001c0001t0007g0040 a0001c0001t0007g0041 a0001c0001t0007g0042 a0001c0001t0007g0043 a0001c0001t0007g0044 a0001c0001t0014g0118 a0001c0001t0024g0300	13	312	0.0417	-18	c.715 others(35): Show c.715-9562_715-9545delATTATTATTATTATTATT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	12/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21176575	GCCGCCGC others(11): Show GCCGCCGCCGCCGCCGCCT	G G	intron_variant intron_variant	MODIFIER	HG01981.hp1 NA18948.hp2 HG01981.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0311 a0001c0001t0001g0312	2	312	0.0064	-18	c.-45 others(35): Show c.-456+129_-456+146delAGGCGGCGGCGGCGGCGG	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	1/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG02135.hp1 others(10): Show HG00438.hp1 HG00609.hp1 HG02135.hp1 HG02572.hp1 HG02723.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 NA18955.hp2 NA18998.hp1 NA19043.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0019 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0067 a0001c0001t0001g0107 a0001c0001t0001g0125 a0001c0001t0001g0154 a0001c0001t0001g0224 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0009g0055	13	374	0.0348	-18	c.60- others(31): Show c.60-788_60-771delTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF4H_chr7_74169356_74202096	74201186	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0188 a0001c0001t0004g0188	1	374	0.0027	-18	c.58 others(29): Show c.5879_*5896delTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		4091		chr7	TogoVar
EIF5A_chr17_7302628_7317463	7307649	AGCGGCGG others(11): Show AGCGGCGGCGGCGGTAGAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0019 a0001c0001t0015g0019	1	424	0.0024	-18	c.-11 others(26): Show c.-111_-94delTAGAGGCGGCGGCGGCGG	EIF5A	ENSG00000132507.18	transcript	ENST00000336458.13	protein_coding	1/6	1956	INFO_REALIGN_3_PRIME	chr17	TogoVar
EIPR1_chr2_3183970_3382818	3320120	GGGGCAAC others(11): Show GGGGCAACACCACCCCTGC	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	250	0.0040	-18	c.259 others(37): Show c.259+17879_259+17896delGCAGGGGTGGTGTTGCCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022554	TTCTTTCT others(11): Show TTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	400	0.0025	-18	c.-46 others(29): Show c.-4625_-4608delGAAAGAAAGAAAGAAAGA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4528		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0122 a0002c0003t0010g0122	1	230	0.0044	-18	c.-76 others(27): Show c.-767_-750delAGAGAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAVL1_chr19_7953573_8010641	8009532	TTTATTAT others(11): Show TTTATTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01261.hp1 HG01358.hp1 others(3): Show HG01168.hp1 HG01261.hp1 HG01358.hp1 HG01928.hp1 NA19012.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0033 a0001c0002t0004	a0001c0001t0001g0115 a0001c0001t0007g0108 a0001c0001t0007g0155 others(3): Show a0001c0001t0001g0115 a0001c0001t0007g0108 a0001c0001t0007g0155 a0001c0001t0007g0156 a0001c0001t0033g0121 a0001c0002t0004g0229	6	276	0.0217	-18	c.-40 others(29): Show c.-4072_-4055delTAATAATAATAATAATAA	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		3892		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23699812	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03041.hp1 HG03139.hp1 others(1): Show HG02717.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0270 a0001c0001t0001g0343 others(1): Show a0001c0001t0001g0119 a0001c0001t0001g0270 a0001c0001t0001g0343 a0001c0001t0001g0344	4	352	0.0114	-18	c.713 others(35): Show c.713+1549_713+1566delAAAAAAAAAAAAAAAAAA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	5/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG00741.hp2 others(18): Show HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01255.hp1 HG01255.hp2 HG01975.hp1 HG02135.hp1 HG02165.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp1 NA18612.hp2 NA18944.hp2 NA18956.hp2 NA18957.hp1 NA18969.hp2 NA19000.hp2 NA19057.hp1 NA19082.hp2 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0077 others(18): Show a0001c0001t0001g0046 a0001c0001t0001g0064 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0107 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0183 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0271 a0001c0001t0001g0328 a0001c0001t0001g0347 a0001c0001t0003g0182 a0001c0001t0004g0088 a0001c0001t0004g0130	21	352	0.0597	-18	c.-15 others(37): Show c.-15-17748_-15-17731delTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119076	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	276	0.0036	-18	c.9+9 others(31): Show c.9+9886_9+9903delGAAAGAAAGAAAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50155440	ACATGGAA others(11): Show ACATGGAATTTTCCTCATC	A A	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0264	1	276	0.0036	-18	c.250 others(37): Show c.250+10244_250+10261delCATGGAATTTTCCTCATC	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	2/6			chr1	TogoVar
ELF1_chr13_40926924_41024316	41016914	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	362	0.0028	-18	c.-22 others(37): Show c.-229+2296_-229+2313delTTTTTTTTTTTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF4_chrX_130058955_130115497	130102878	GAGAGAGA others(11): Show GAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0248 a0001c0001t0029g0248	1	274	0.0037	-18	c.-21 others(37): Show c.-210+7429_-210+7446delTTCTTTCTTTCTCTCTCT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELFN1_chr7_1665277_1752946	1719142	GCCACCAA others(11): Show GCCACCAACAGGGCCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	302	0.0033	-18	c.-29 others(37): Show c.-294+9920_-294+9937delGCCCCGCCCACCAACAGG	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELL2_chr5_95880098_95966851	95950898	GTATGTGT others(11): Show GTATGTGTATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02572.hp2 HG02818.hp2 others(4): Show HG02055.hp2 HG02572.hp2 HG02818.hp2 HG02922.hp2 HG03209.hp2 HG03516.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0008 a0002c0002t0001 a0002c0002t0021 a0001c0003t0008 a0002c0002t0001 a0002c0002t0021	a0001c0003t0008g0013 a0002c0002t0001g0110 a0002c0002t0001g0111 others(4): Show a0001c0003t0008g0013 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0116 a0002c0002t0001g0130 a0002c0002t0021g0131	7	314	0.0223	-18	c.148 others(35): Show c.148-7867_148-7850delTATATATATATACACATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950904	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0228 a0001c0004t0001g0228	1	314	0.0032	-18	c.148 others(35): Show c.148-7873_148-7856delTATATATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950937	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0025 a0001c0001t0014g0025	1	314	0.0032	-18	c.148 others(35): Show c.148-7906_148-7889delTTATATATATATATATAT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar

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