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
EFCAB6_chr22_43523778_43817305	43675453	T T	TATATGAT others(22): Show TATATGATATAATATATAATATAATATGTA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0241 a0002c0002t0001g0241	1	288	0.0035	29	c.141 others(48): Show c.1419+2514_1419+2542dupTACATATTATATTATATATTATATCA TAT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	13/31			chr22	TogoVar
EFHB_chr3_19874472_19939217	19908562	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02970.hp2 HG00408.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0107 a0002c0002t0001g0084 a0002c0002t0001g0107	2	215	0.0093	29	c.128 others(48): Show c.1289-2814_1289-2813insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908601	A A	AGAGAGAG others(22): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0019 a0005c0006t0001g0019	1	340	0.0029	29	c.128 others(48): Show c.1289-2853_1289-2852insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHD1_chr2_232628604_232687776	232650564	T T	TGCAGGCG others(22): Show TGCAGGCGTGAGCCACCATGCCCAGCTGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0039	1	380	0.0026	29	c.303 others(48): Show c.303-12238_303-12237insGCAGGCGTGAGCCACCATGCCCAGCT GCC	EFHD1	ENSG00000115468.13	transcript	ENST00000264059.8	protein_coding	1/3			chr2	TogoVar
EFNB3_chr17_7700202_7716372	7714166	T T	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	426	0.0023	29	c.45 others(40): Show c.4590_*4591insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding		2795		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0059 a0001c0003t0003g0059	1	28	0.0357	29	c.72 others(40): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0088 a0001c0001t0003g0088	1	356	0.0028	29	c.128 others(46): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA A	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGF_chr4_109907883_110018766	109932377	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0007 a0001c0019t0007	a0001c0019t0007g0140 a0001c0019t0007g0140	1	377	0.0027	29	c.128 others(46): Show c.128-8569_128-8568insTATATATATATATATATATATATATATA T	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHBP1_chr2_62700713_63051487	62870734	A A	ATACATAC others(22): Show ATACATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0197 a0004c0009t0001g0197	1	192	0.0052	29	c.999 others(46): Show c.999-3612_999-3611insTACATACATATATATATATATATATATA T	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	9/22			chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAATTATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	282	0.0035	29	c.915 others(46): Show c.915+5056_915+5057insAAAAAAAAAAAAAATTATATATATATAT A	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHMT1_chr9_137614005_137841127	137716161	G G	GTGGTGTC others(22): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	83	0.0120	29	c.86- others(42): Show c.86-437_86-436insTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716248	G G	GTGGTGTC others(22): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0001 a0007c0026t0001	a0007c0026t0001g0167 a0007c0026t0001g0167	1	87	0.0115	29	c.86- others(42): Show c.86-350_86-349insTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716360	T T	TGTGGTGT others(22): Show TGTGGTGTCATGGTGGGGGAGGAAGTTGTG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0092	1	127	0.0079	29	c.86- others(42): Show c.86-265_86-237dupGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716390	T T	TTGGTGTC others(22): Show TTGGTGTCATGGTGGGGGAGGAAGTTGTGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0001 a0003c0023t0001	a0003c0023t0001g0075 a0003c0023t0001g0075	1	136	0.0074	29	c.86- others(42): Show c.86-208_86-207insGTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716506	G G	GTGGTGTC others(22): Show GTGGTGTCATGGTGGGGGAGGAAGTTGTGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	132	0.0076	29	c.86- others(40): Show c.86-92_86-91insTTGGTGTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137716531	T T	TGTGGTGG others(22): Show TGTGGTGGTGTCATGGTGGGGGAGGAAGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19079.hp2 NA18943.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0099 a0001c0002t0001g0033 a0001c0001t0001g0099 a0001c0002t0001g0033	2	166	0.0120	29	c.86- others(40): Show c.86-85_86-57dupTCATGGTGGGGGAGGAAGTGGTGGTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045742	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0001 a0012c0013t0001	a0012c0013t0001g0289 a0012c0013t0001g0289	1	416	0.0024	29	c.630 others(44): Show c.630+328_630+329insTATATATATATATATATATATATATATAT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	129	0.0078	29	c.119 others(46): Show c.119-1910_119-1909insATATATATATATATTTTTTTTTTTTTTT T	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02615.hp1 others(6): Show HG01070.hp1 HG01071.hp2 HG02615.hp1 NA18747.hp1 NA18971.hp1 NA18993.hp2 NA19057.hp1 NA19082.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0035 others(4): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0035 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0138	9	137	0.0657	29	c.119 others(46): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTTTTT T	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01106.hp2 others(12): Show HG00140.hp1 HG00323.hp1 HG01106.hp2 HG01361.hp1 HG01993.hp2 HG02273.hp2 HG03491.hp2 HG03942.hp1 NA18952.hp1 NA18953.hp1 NA18962.hp2 NA18980.hp1 NA18992.hp1 NA19066.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0025 a0001c0001t0002 a0001c0001t0018 a0001c0001t0025	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0028 others(9): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0137 a0001c0001t0018g0102 a0001c0001t0025g0098	15	143	0.1049	29	c.119 others(46): Show c.119-1910_119-1909insATATATATATATATATATTTTTTTTTTT T	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19074.hp2 NA19088.hp2 NA19004.hp2 NA19074.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0024 a0001c0001t0002g0078 a0001c0001t0002g0079	3	131	0.0229	29	c.119 others(46): Show c.119-1910_119-1909insATATATATATATATATATATTTTTTTTT T	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0079 a0001c0001t0008g0079	1	25	0.0400	29	c.434 others(42): Show c.434-47_434-46insATATATATATATATATATATATATTTTTT	EIF2B2	ENSG00000119718.11	transcript	ENST00000266126.10	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	111	0.0090	29	c.295 others(44): Show c.295-753_295-752insAAAAAAATATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	100	0.0100	29	c.295 others(48): Show c.295-10290_295-10289insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02257.hp2 HG03139.hp1 others(8): Show HG01071.hp1 HG02257.hp2 HG03139.hp1 HG03927.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18975.hp1 NA18990.hp1 NA19005.hp1 NA19010.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0002 a0005c0004t0002 a0001c0001t0002 a0005c0004t0002	a0001c0001t0002g0003 a0001c0001t0002g0052 a0001c0001t0002g0053 others(8): Show a0001c0001t0002g0003 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0005c0004t0002g0058	11	35	0.3143	29	c.-10 others(46): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2S3_chrX_24049956_24083810	24056181	A A	AAGTTAAA others(22): Show AAGTTAAAAAGTAAGACTAGTTTTTAACCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	289	0.0035	29	c.133 others(44): Show c.133+521_133+549dupAGTTTTTAACCTAGTTAAAAAGTAAGACT	EIF2S3	ENSG00000130741.11	transcript	ENST00000253039.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EIF3H_chr8_116637130_116760823	116666753	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0322 a0001c0001t0007g0322	1	65	0.0154	29	c.290 others(46): Show c.290-7774_290-7773insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38637325	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	308	0.0032	29	c.40 others(38): Show c.405_*406insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding		372		chr19	TogoVar
EIF3L_chr22_37844419_37894407	37868634	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	57	0.0175	29	c.580 others(46): Show c.580-1517_580-1516insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EIF3L	ENSG00000100129.18	transcript	ENST00000652021.1	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01934.hp2 HG02074.hp2 others(1): Show HG01496.hp1 HG01934.hp2 HG02074.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0138 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0065 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0253	4	33	0.1212	29	c.979 others(46): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0039 a0006c0012t0001g0039	1	195	0.0051	29	c.299 others(44): Show c.299-733_299-732insATATATATATATATTTTTTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	195	0.0051	29	c.299 others(44): Show c.299-733_299-732insATATATATATATATATATTTTTTTTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0326 a0001c0003t0001g0335 a0001c0003t0001g0326 a0001c0003t0001g0335	2	196	0.0102	29	c.299 others(44): Show c.299-733_299-732insATATATATATATATATATATATATTTTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIPR1_chr2_3183970_3382818	3199060	G G	GCCCCCCC others(22): Show GCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	93	0.0108	29	c.517 others(46): Show c.517-2044_517-2043insGGGGGGGGGGGGGGGGGGGGGGGGGGGG G	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	5/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3240941	T T	TCAAGAAA others(22): Show TCAAGAAAAGCCAGCAGACTCTTCCTAAAG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	33	0.0303	29	c.416 others(48): Show c.416+16357_416+16358insCTTTAGGAAGAGTCTGCTGGCTTTTC TTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3240966	T T	TCAAGAAA others(22): Show TCAAGAAAAGCCAGCAGACTCTTCCTAAAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	248	0.0040	29	c.416 others(48): Show c.416+16332_416+16333insCTTTAGGAAGAGTCTGCTGGCTTTTC TTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELAC2_chr17_12986612_13023027	13022550	C C	CTTCCTTC others(22): Show CTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01943.hp2 HG02257.hp1 others(4): Show HG01928.hp2 HG01943.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0006 a0002c0002t0026 a0002c0002t0005 a0002c0002t0006 a0002c0002t0026	a0002c0002t0005g0005 a0002c0002t0005g0100 a0002c0002t0005g0102 others(4): Show a0002c0002t0005g0005 a0002c0002t0005g0100 a0002c0002t0005g0102 a0002c0002t0005g0103 a0002c0002t0006g0019 a0002c0002t0006g0020 a0002c0002t0026g0092	7	227	0.0308	29	c.-46 others(40): Show c.-4604_-4603insAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding		4524		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG03471.hp1 NA19077.hp2 HG01943.hp2 HG03471.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0006g0122 a0001c0001t0001g0191 a0001c0001t0001g0204 a0001c0001t0006g0122	3	41	0.0732	29	c.230 others(46): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELF2_chr4_139052265_139182218	139086787	T T	TATACAGT others(22): Show TATACAGTGGGTATAATTACCACCCAAGGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	340	0.0029	29	c.239 others(48): Show c.239-13249_239-13221dupTCCTTGGGTGGTAATTATACCCACTG TAT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(22): Show TCCAGTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG01081.hp2 others(2): Show HG00408.hp2 HG00558.hp1 HG01081.hp2 HG01099.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0299 others(2): Show a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0299 a0001c0001t0001g0322 a0001c0001t0001g0323	5	73	0.0685	29	c.238 others(48): Show c.238+10602_238+10603insTGTGTGTGTGTGTGTGTGTGTGAGAC TGG	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9			chr4	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0017 a0001c0003t0007g0017	1	147	0.0068	29	c.482 others(44): Show c.482-515_482-514insAAAAAAAAATATATATATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 NA18906.hp2 HG02622.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0049 a0001c0005t0010g0050 a0001c0005t0010g0049 a0001c0005t0010g0050	2	148	0.0135	29	c.482 others(44): Show c.482-515_482-514insAAAAAAAAAAAAAAAAATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18437880	G G	GGCTGACG others(22): Show GGCTGACGCGCGTCGTCCGGGTACTCGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0133 a0002c0002t0001g0133	1	242	0.0041	29	c.68 others(40): Show c.6871_*6872insATACGAGTACCCGGACGACGCGCGTCAGC	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding		4782		chr19	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(22): Show GGGCGGGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 NA18966.hp1 HG01168.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0061 a0001c0001t0004g0219 a0001c0001t0003g0061 a0001c0001t0004g0219	2	73	0.0274	29	c.-47 others(40): Show c.-4772_-4771insACACACACACACACACACACACACCCGCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(22): Show GGGGGCGGGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	72	0.0139	29	c.-47 others(40): Show c.-4772_-4771insACACACACACACACACACACACCCGCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGC others(22): Show GGGGGGGCGGGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA19007.hp2 NA18972.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0121 a0001c0001t0004g0226 a0001c0001t0001g0121 a0001c0001t0004g0226	2	73	0.0274	29	c.-47 others(40): Show c.-4772_-4771insACACACACACACACACACACCCGCCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMOD3_chr2_85349769_85396748	85364825	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	225	0.0044	29	c.199 others(46): Show c.199+1660_199+1661insATATATATATATATATATTTTTTTTTTT T	ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
ELOVL2_chr6_10975759_11049305	10978304	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0032 a0001c0001t0010g0032	1	339	0.0029	29	c.54 others(40): Show c.5476_*5477insTATATATATATATATATATATATATATAT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding		2454		chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084084	G G	GATATATA others(22): Show GATATATAACATATATATGATATATATGAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01975.hp2 HG02723.hp1 others(4): Show HG00738.hp1 HG01975.hp2 HG02723.hp1 HG02895.hp1 HG02896.hp2 HG03486.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 others(1): Show a0001c0001t0006 a0001c0001t0008 a0001c0001t0028 a0001c0001t0074	a0001c0001t0006g0257 a0001c0001t0008g0019 a0001c0001t0008g0021 others(4): Show a0001c0001t0006g0257 a0001c0001t0008g0019 a0001c0001t0008g0021 a0001c0001t0008g0023 a0001c0001t0028g0048 a0001c0001t0028g0247 a0001c0001t0074g0056	7	255	0.0275	29	c.221 others(48): Show c.221+21384_221+21412dupATCATATATATCATATATATGTTATA TAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084135	A A	ATGATATA others(22): Show ATGATATATATGATATATATAACATATATG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	317	0.0032	29	c.221 others(48): Show c.221+21333_221+21361dupCATATATGTTATATATATCATATATA TCA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar

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