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
E2F6_chr2_11439375_11471161	11468851	A A	AATTATAT others(16): Show AATTATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA18940.hp1 HG01243.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0071 a0001c0001t0001g0074	2	305	0.0066	23	c.-29 others(34): Show c.-2973_-2972insATATATATATATATATATATAAT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2691		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0121 a0001c0001t0002g0121	1	117	0.0085	23	c.-29 others(34): Show c.-2977_-2976insATATATATATATTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp2 NA18960.hp2 NA18986.hp2 NA18941.hp2 NA18960.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0044 a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0044	3	119	0.0252	23	c.-29 others(34): Show c.-2977_-2976insATATATATATATATTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG03834.hp2 HG01943.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0158 a0001c0001t0002g0003 a0001c0001t0002g0158	2	118	0.0169	23	c.-29 others(34): Show c.-2977_-2976insATATATATATATATATTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	117	0.0085	23	c.-29 others(34): Show c.-2977_-2976insATATATATATATATATATTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF2_chr8_25836725_26050413	25911066	G G	GCTCAGGG others(16): Show GCTCAGGGTCTTGATACAAACCTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp2 NA19065.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0001 a0001c0001t0006 a0001c0002t0001	a0001c0001t0006g0191 a0001c0002t0001g0089 a0001c0001t0006g0191 a0001c0002t0001g0089	2	218	0.0092	23	c.552 others(40): Show c.552-2512_552-2511insAAGGTTTGTATCAAGACCCTGAG	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EBF3_chr10_129830233_129969274	129917651	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03130.hp2 NA19240.hp2 HG02145.hp1 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0042 a0001c0001t0001 a0001c0001t0019 a0001c0001t0042	a0001c0001t0001g0257 a0001c0001t0019g0111 a0001c0001t0042g0077 a0001c0001t0001g0257 a0001c0001t0019g0111 a0001c0001t0042g0077	3	51	0.0588	23	c.554 others(42): Show c.554+39584_554+39606dupTTTTTTTTTTTTTTTTTTTTTTT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EBI3_chr19_4224523_4242528	4236518	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01256.hp1 HG01175.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0172 a0001c0001t0001g0174	2	7	0.2857	23	c.538 others(38): Show c.538-415_538-393dupAAAAAAAAAAAAAAAAAAAAAAA	EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG03831.hp1 HG02698.hp2 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0002 a0001c0001t0001 a0003c0004t0002	a0001c0001t0001g0068 a0003c0004t0002g0066 a0001c0001t0001g0068 a0003c0004t0002g0066	2	250	0.0080	23	c.-28 others(40): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECRG4_chr2_106060688_106083155	106071322	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	33	0.0303	23	c.80- others(36): Show c.80-514_80-492dupAAAAAAAAAAAAAAAAAAAAAAA	ECRG4	ENSG00000119147.10	transcript	ENST00000238044.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
ECT2L_chr6_138791087_138909070	138864002	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0005 a0014c0021t0001g0005	1	46	0.0217	23	c.129 others(40): Show c.1292-989_1292-967dupAAAAAAAAAAAAAAAAAAAAAAA	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	11/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2L_chr6_138791087_138909070	138907313	A A	AAGTGTGT others(16): Show AAGTGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0320 a0002c0003t0007g0320	1	67	0.0149	23	c.46 others(34): Show c.4686_*4687insAGTGTGTGTGTGTGTGTGTGTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding		3244		chr6	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(16): Show CTTCCTTCCTTCCTTCCTTCTTCT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0078	1	140	0.0071	23	c.62- others(38): Show c.62-3339_62-3338insCTTCCTTCCTTCCTTCTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405877	C C	CCTTCTTT others(16): Show CCTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0149 a0001c0001t0029g0149	1	291	0.0034	23	c.62- others(38): Show c.62-3339_62-3338insCTTCTTTCTTTCTTTCTTTCTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5			chr1	TogoVar
EDA_chrX_69611113_70044472	69888978	T T	TTATATAT others(16): Show TTATATATATATATATAATATATA	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0096 a0001c0001t0003g0096	1	19	0.0526	23	c.397 others(42): Show c.397-68033_397-68032insATATATATATATATATATATATA	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDEM3_chr1_184685237_184759858	184720509	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 NA18906.hp2 HG01099.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0086 a0001c0003t0009g0090 a0001c0003t0009g0086 a0001c0003t0009g0090	2	188	0.0106	23	c.951 others(38): Show c.951+779_951+780insAAAAAAAAAAAAAAAAAAAAAAA	EDEM3	ENSG00000116406.20	transcript	ENST00000318130.13	protein_coding	9/19			chr1	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02071.hp1 HG03669.hp2 others(6): Show HG00323.hp2 HG02071.hp1 HG03669.hp2 HG03831.hp2 HG03927.hp1 HG04184.hp1 NA18747.hp2 NA18984.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0003	a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0065 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0002g0095 a0001c0001t0002g0131 a0001c0001t0002g0141 a0001c0001t0003g0077 a0001c0001t0003g0138 a0001c0002t0003g0084	9	26	0.3462	23	c.196 others(40): Show c.196+1568_196+1590dupTTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG03492.hp1 HG00423.hp2 HG01070.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0068 a0001c0001t0002g0126 a0001c0002t0001g0064 a0001c0001t0001g0068 a0001c0001t0002g0126 a0001c0002t0001g0064	3	4	0.7500	23	c.68- others(38): Show c.68-8470_68-8448dupAAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	214	0.0047	23	c.365 others(40): Show c.365+4875_365+4897dupAAAAAAAAAAAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EEF1A2_chr20_63483014_63504083	63490068	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0069 a0003c0014t0001g0069	1	361	0.0028	23	c.102 others(40): Show c.1029+410_1029+411insGAAAAAAAAAAAAAAAAAAAAAA	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	6/7			chr20	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	184	0.0054	23	c.400 others(40): Show c.400-3626_400-3625insATATATTTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	80	0.0125	23	c.291 others(38): Show c.291+332_291+333insTATATATATATATATATATATAT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02559.hp1 others(2): Show HG01167.hp1 HG01891.hp2 HG02559.hp1 HG02559.hp2 HG03195.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 others(1): Show a0003c0004t0005g0002 a0003c0004t0005g0005 a0003c0004t0005g0006 a0003c0004t0005g0014	5	105	0.0476	23	c.246 others(38): Show c.246+557_246+558insTTTTTTTTTTTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128150907	A A	AATATTCT others(16): Show AATATTCTATATTATATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	269	0.0037	23	c.-26 others(34): Show c.-2601_-2600insATATTCTATATTATATATATAAT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2573		chr3	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00609.hp2 others(10): Show HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00741.hp1 HG02027.hp2 HG02135.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp2 HG03471.hp2 NA18946.hp1 NA18994.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0005 a0001c0001 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0014 a0001c0001t0052 a0001c0001t0063 a0002c0003t0061 a0002c0005t0016	a0001c0001t0001g0092 a0001c0001t0001g0144 a0001c0001t0001g0150 others(10): Show a0001c0001t0001g0092 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0184 a0001c0001t0001g0266 a0001c0001t0001g0279 a0001c0001t0003g0291 a0001c0001t0006g0336 a0001c0001t0014g0308 a0001c0001t0052g0261 a0001c0001t0063g0253 a0002c0003t0061g0069 a0002c0005t0016g0286	13	69	0.1884	23	c.-20 others(34): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36249015	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02896.hp2 HG02897.hp1 HG02109.hp2 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0028 a0002c0003t0060 a0002c0003t0028 a0002c0003t0060	a0002c0003t0028g0007 a0002c0003t0028g0008 a0002c0003t0060g0103 a0002c0003t0028g0007 a0002c0003t0028g0008 a0002c0003t0060g0103	3	344	0.0087	23	c.930 others(41): Show c.930+9999_930+10000insCACCACACACACACACACACACA	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	243	0.0041	23	c.107 others(38): Show c.107-670_107-669insATATATATATATATATATTTTTT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89929031	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03453.hp1 HG02257.hp1 HG03453.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0014 a0001c0009t0001 a0001c0009t0014	a0001c0009t0001g0269 a0001c0009t0014g0270 a0001c0009t0001g0269 a0001c0009t0014g0270	2	219	0.0091	23	c.410 others(40): Show c.410+2509_410+2510insAAATATATATATATATATATATA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01891.hp2 others(5): Show HG01168.hp1 HG01169.hp1 HG01891.hp2 HG02148.hp1 HG02572.hp2 HG03130.hp2 NA18977.hp2 NA18985.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0008 a0005c0005	a0001c0001t0001 a0001c0006t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0001c0006t0001 a0002c0002t0003 a0003c0008t0003 a0005c0005t0001	a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0006t0001g0093 others(5): Show a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0006t0001g0093 a0001c0006t0001g0094 a0002c0002t0003g0335 a0003c0008t0003g0276 a0005c0005t0001g0007 a0005c0005t0001g0212	8	50	0.1600	23	c.249 others(42): Show c.2495-4940_2495-4918dupTTTTTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB2_chr1_244964682_245092837	244970641	G G	GCCCCGCC others(16): Show GCCCCGCCCCGCCCCGCCTCTCTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00642.hp1 others(29): Show HG00140.hp2 HG00280.hp2 HG00642.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp1 HG01433.hp1 HG01978.hp1 HG01981.hp1 HG02055.hp1 HG02148.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp1 HG03490.hp1 HG03516.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(29): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0277 a0001c0002t0002g0273 a0001c0002t0002g0275 a0001c0002t0002g0276	32	285	0.1123	23	c.25+ others(36): Show c.25+225_25+247dupCGCCCCGCCCCGCCTCTCTCCCC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244970646	G G	GCCCCGCC others(16): Show GCCCCGCCCCGCCCCGCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03486.hp2 HG02258.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0124 a0001c0001t0001g0125	2	288	0.0069	23	c.25+ others(36): Show c.25+215_25+216insCCGCCTCTCTCCCCCGCCCCGCC	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244970690	C C	CCGCCCCG others(16): Show CCGCCCCGCCCCGCCTCTCTCCCG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0008 a0001c0001t0003g0008	1	170	0.0059	23	c.25+ others(36): Show c.25+247_25+248insCGCCCCGCCCCGCCTCTCTCCCG	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7			chr1	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02257.hp2 HG01123.hp1 HG02257.hp2	a0004 a0020 a0004 a0020	a0004c0004 a0020c0025 a0004c0004 a0020c0025	a0004c0004t0003 a0020c0025t0001 a0004c0004t0003 a0020c0025t0001	a0004c0004t0003g0087 a0020c0025t0001g0195 a0004c0004t0003g0087 a0020c0025t0001g0195	2	190	0.0105	23	c.209 others(38): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939203	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0034 a0005c0034	a0005c0034t0002 a0005c0034t0002	a0005c0034t0002g0033 a0005c0034t0002g0033	1	231	0.0043	23	c.279 others(42): Show c.2791-4433_2791-4432insTTTCTTTCTTTCTTTCTTTCTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26			chr20	TogoVar
EFHB_chr3_19874472_19939217	19892883	A A	AAATAAAA others(16): Show AAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01109.hp2 HG01123.hp1 others(13): Show HG00140.hp2 HG01109.hp2 HG01123.hp1 HG01891.hp1 HG02004.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02735.hp2 HG02886.hp1 HG03195.hp1 HG03471.hp1 NA18906.hp2	a0002 a0006 a0013 a0002 a0006 a0013	a0002c0003 a0002c0009 a0002c0010 others(2): Show a0002c0003 a0002c0009 a0002c0010 a0006c0007 a0013c0016	a0002c0003t0001 a0002c0009t0002 a0002c0010t0001 others(2): Show a0002c0003t0001 a0002c0009t0002 a0002c0010t0001 a0006c0007t0002 a0013c0016t0001	a0002c0003t0001g0057 a0002c0003t0001g0062 a0002c0003t0001g0064 others(8): Show a0002c0003t0001g0057 a0002c0003t0001g0062 a0002c0003t0001g0064 a0002c0003t0001g0072 a0002c0009t0002g0006 a0002c0009t0002g0011 a0002c0009t0002g0274 a0002c0009t0002g0278 a0002c0010t0001g0075 a0006c0007t0002g0190 a0013c0016t0001g0076	16	216	0.0741	23	c.172 others(42): Show c.1725+3803_1725+3804insATTTTATTTTATTTTATTTTATT	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHB_chr3_19874472_19939217	19908613	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0251 a0002c0002t0002g0251	1	342	0.0029	23	c.128 others(42): Show c.1289-2865_1289-2864insCTCTCTCTCTCTCTCTCTCTCTC	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	5/12			chr3	TogoVar
EFHC1_chr6_52415342_52502198	52493385	T T	TATATATA others(16): Show TATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0072 a0006c0006t0072	a0006c0006t0072g0194 a0006c0006t0072g0194	1	393	0.0025	23	c.10 others(34): Show c.1044_*1045insATATATATATATATATATATATA	EFHC1	ENSG00000096093.16	transcript	ENST00000371068.11	protein_coding	11/11	1045		chr6	TogoVar
EFHC2_chrX_44142872_44348672	44310247	A A	AGGGTTTC others(16): Show AGGGTTTCCTCTCAGCAGCGGCTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp1 HG00741.hp2 others(47): Show HG00438.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp1 HG01981.hp2 HG02055.hp1 HG02074.hp1 HG02148.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG04204.hp1 HG06807.hp1 NA18939.hp2 NA18943.hp1 NA18970.hp1 NA18981.hp2 NA18994.hp1 NA19005.hp1 NA19080.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0009	a0001c0001 a0001c0006 a0002c0002 others(4): Show a0001c0001 a0001c0006 a0002c0002 a0002c0008 a0003c0003 a0006c0007 a0009c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0006t0001 a0001c0006t0006 a0002c0002t0002 a0002c0002t0004 a0002c0002t0007 a0002c0008t0004 a0003c0003t0002 a0006c0007t0002 a0009c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 others(47): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0073 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0003g0013 a0001c0001t0003g0165 a0001c0001t0005g0087 a0001c0001t0005g0212 a0001c0001t0006g0002 a0001c0001t0007g0111 a0001c0001t0008g0199 a0001c0001t0008g0202 a0001c0001t0009g0157 a0001c0001t0009g0180 a0001c0001t0009g0198 a0001c0006t0001g0016 a0001c0006t0001g0022 a0001c0006t0001g0023 a0001c0006t0006g0103 a0002c0002t0002g0164 a0002c0002t0002g0201 a0002c0002t0004g0125 a0002c0002t0004g0207 a0002c0002t0007g0154 a0002c0002t0007g0187 a0002c0002t0007g0217 a0002c0002t0007g0218 a0002c0008t0004g0052 a0002c0008t0004g0124 a0003c0003t0002g0018 a0003c0003t0002g0050 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0057 a0003c0003t0002g0058 a0003c0003t0002g0097 a0003c0003t0002g0106 a0003c0003t0002g0115 a0003c0003t0002g0188 a0003c0003t0002g0189 a0006c0007t0002g0024 a0006c0007t0002g0025 a0006c0007t0002g0203 a0009c0011t0001g0068	50	219	0.2283	23	c.231 others(40): Show c.231+2298_231+2320dupGAGCCGCTGCTGAGAGGAAACCC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFNA3_chr1_155073837_155092538	155083320	C C	CCCCTGGC others(16): Show CCCCTGGCTCTCTGGGGGTGGTGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	332	0.0030	23	c.129 others(40): Show c.129-1768_129-1767insTGGCTCTCTGGGGGTGGTGGCCC	EFNA3	ENSG00000143590.14	transcript	ENST00000368408.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFNA5_chr5_107371894_107675937	107591959	A A	ATATATAT others(16): Show ATATATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	176	0.0057	23	c.125 others(42): Show c.125+78529_125+78530insATATATAATATATATTATATATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB3_chr17_7700202_7716372	7714166	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0023	23	c.45 others(34): Show c.4590_*4591insGTGTGTGTGTGTGTGTGTGTGTG	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding		2795		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp1 others(33): Show HG00099.hp1 HG00438.hp1 HG00558.hp1 HG00597.hp2 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01884.hp1 HG01943.hp1 HG02040.hp1 HG02055.hp2 HG02738.hp1 HG02896.hp2 HG03041.hp1 HG03225.hp1 HG03492.hp2 HG03654.hp1 HG06807.hp1 NA18946.hp1 NA18947.hp1 NA18950.hp2 NA18952.hp2 NA18975.hp2 NA19001.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19068.hp2 NA19076.hp1 NA19080.hp1 NA19081.hp2 NA20300.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0011 a0001c0003t0003 a0002c0002t0001 others(2): Show a0001c0001t0011 a0001c0003t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0026	a0001c0001t0011g0220 a0001c0001t0011g0221 a0001c0001t0011g0223 others(33): Show a0001c0001t0011g0220 a0001c0001t0011g0221 a0001c0001t0011g0223 a0001c0003t0003g0048 a0001c0003t0003g0080 a0002c0002t0001g0036 a0002c0002t0002g0003 a0002c0002t0002g0019 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0286 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0305 a0002c0002t0002g0312 a0002c0002t0002g0313 a0002c0002t0002g0314 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0322 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0335 a0002c0002t0002g0336 a0002c0002t0002g0337 a0002c0002t0002g0339 a0002c0002t0002g0346 a0002c0002t0002g0357 a0002c0002t0002g0358 a0002c0002t0002g0360 a0002c0002t0002g0362 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0369 a0002c0002t0002g0382 a0002c0002t0026g0316	36	63	0.5714	23	c.72 others(34): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18999.hp1 NA19010.hp2 others(1): Show NA18990.hp2 NA18999.hp1 NA19010.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0041 others(1): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0041 a0001c0001t0043	a0001c0001t0003g0095 a0001c0001t0008g0098 a0001c0001t0041g0096 others(1): Show a0001c0001t0003g0095 a0001c0001t0008g0098 a0001c0001t0041g0096 a0001c0001t0043g0097	4	55	0.0727	23	c.7+4 others(36): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03579.hp2 HG03942.hp1 others(1): Show HG03491.hp1 HG03579.hp2 HG03942.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0015 a0001c0003t0006 a0001c0001t0001 a0001c0001t0015 a0001c0003t0006	a0001c0001t0001g0155 a0001c0001t0015g0139 a0001c0003t0006g0151 others(1): Show a0001c0001t0001g0155 a0001c0001t0015g0139 a0001c0003t0006g0151 a0001c0003t0006g0152	4	70	0.0571	23	c.8-1 others(38): Show c.8-11036_8-11014dupTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFTUD2_chr17_44844948_44904445	44890214	T T	TTCATCAC others(16): Show TTCATCACGTTGGCCAGACTGGTC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	368	0.0027	23	c.106 others(40): Show c.106-3487_106-3465dupGACCAGTCTGGCCAACGTGATGA	EFTUD2	ENSG00000108883.13	transcript	ENST00000426333.7	protein_coding	2/27			chr17	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0183 a0001c0003t0019g0183	1	20	0.0500	23	c.270 others(42): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109932377	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19063.hp1 HG02615.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0004 a0001c0019t0017 a0001c0001t0004 a0001c0019t0017	a0001c0001t0004g0338 a0001c0019t0017g0141 a0001c0001t0004g0338 a0001c0019t0017g0141	2	378	0.0053	23	c.128 others(40): Show c.128-8569_128-8568insTATATATATATATATATATATAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	188	0.0053	23	c.463 others(40): Show c.463+1174_463+1175insATATATATATATATATATTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0193 a0005c0006t0001g0193	1	188	0.0053	23	c.463 others(40): Show c.463+1174_463+1175insATATATATATATATATATATTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137716276	G G	GGTGTCAT others(16): Show GGTGTCATGGTGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	159	0.0063	23	c.86- others(36): Show c.86-347_86-346insTCATGGTGGGGGAGGAAGTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar

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