Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ECHDC3_chr10_11737382_11769070	11742341	A A	AGGGGCGT others(18): Show AGGGGCGTGTCGGGGCGGGGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0012 a0002c0008t0003g0012	1	420	0.0024	25	c.-23 others(34): Show c.-236_-235insGGGGCGTGTCGGGGCGGGGCGGGGC	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		40		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0056 a0003c0004t0002g0056	1	400	0.0025	25	c.-28 others(42): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAAAAA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECM2_chr9_92490315_92540990	92533328	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0325 a0002c0007t0001g0325	1	400	0.0025	25	c.-28 others(42): Show c.-28+2604_-28+2605insATATATATATATATATATATATTTT	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
EDARADD_chr1_236389286_236489930	236393391	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02145.hp1 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0028 a0002c0002t0002 a0002c0002t0028	a0002c0002t0002g0283 a0002c0002t0028g0275 a0002c0002t0002g0283 a0002c0002t0028g0275	2	294	0.0068	25	c.-10 others(36): Show c.-1054_-1053insTTTTTTTTTTTTTTTTTTTTTTTTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding		894		chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405790	T T	TTTCTTTC others(18): Show TTTCTTTCTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp2 HG04228.hp1 others(1): Show HG02451.hp2 HG02965.hp2 HG04228.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0028	a0001c0001t0001g0166 a0002c0002t0001g0273 a0002c0002t0002g0274 others(1): Show a0001c0001t0001g0166 a0002c0002t0001g0273 a0002c0002t0002g0274 a0002c0002t0028g0275	4	294	0.0136	25	c.62- others(40): Show c.62-3424_62-3423insCTTTCTTTTTCTTTCTTTCTTTCTT	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDARADD_chr1_236389286_236489930	236405874	C C	CTTCCTTC others(18): Show CTTCCTTCCTTCTTCTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	294	0.0034	25	c.62- others(40): Show c.62-3339_62-3338insCTTCCTTCTTCTTCTTCTTTCTTTC	EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
EDIL3_chr5_83935554_84389880	84132298	A A	ATATATAA others(18): Show ATATATAATATATATTATATATATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0001 a0001c0002t0011g0001	1	158	0.0063	25	c.469 others(42): Show c.469+4918_469+4942dupAAATATATATAATATATATTATATA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	5/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84160744	T T	TCTTTCCT others(18): Show TCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03195.hp1 HG01884.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0142 a0001c0007t0001g0126 a0001c0001t0001g0142 a0001c0007t0001g0126	2	158	0.0127	25	c.355 others(44): Show c.355+19624_355+19648dupGAAAGGAAAGGAAAGGAAAGGAAAG	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00741.hp2 others(4): Show HG00438.hp1 HG00438.hp2 HG00741.hp2 HG02080.hp1 HG02615.hp2 NA18984.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0002g0048 others(4): Show a0001c0001t0001g0056 a0001c0001t0001g0081 a0001c0001t0002g0048 a0001c0001t0004g0079 a0001c0001t0012g0002 a0001c0002t0001g0129 a0001c0003t0001g0058	7	158	0.0443	25	c.196 others(42): Show c.196+1566_196+1590dupTTTTTTTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA19062.hp1 HG02683.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0070 a0001c0001t0002g0132 a0001c0001t0001g0070 a0001c0001t0002g0132	2	158	0.0127	25	c.68- others(40): Show c.68-8472_68-8448dupAAAAAAAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92922959	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG02976.hp1 others(2): Show HG02572.hp2 HG02922.hp1 HG02976.hp1 HG03486.hp1 HG03579.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0010 a0002c0004t0018 a0002c0004t0041 a0002c0004t0010 a0002c0004t0018 a0002c0004t0041	a0002c0004t0010g0229 a0002c0004t0010g0230 a0002c0004t0010g0235 others(2): Show a0002c0004t0010g0229 a0002c0004t0010g0230 a0002c0004t0010g0235 a0002c0004t0018g0202 a0002c0004t0041g0201	5	244	0.0205	25	c.24+ others(40): Show c.24+6059_24+6083dupATTTTATTTTATTTTATTTTATTTT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28			chr12	TogoVar
EEF1A1_chr6_73510750_73526032	73524789	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0016 a0001c0003t0016	a0001c0003t0016g0020 a0001c0003t0016g0020	1	424	0.0024	25	c.-38 others(36): Show c.-3821_-3820insTATATATATATATATATATATATAT	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3758		chr6	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02723.hp2 others(7): Show HG02257.hp1 HG02559.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp1 HG02897.hp2 HG03453.hp1 NA18522.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0309 a0001c0001t0004g0311 a0001c0001t0004g0312 others(7): Show a0001c0001t0004g0309 a0001c0001t0004g0311 a0001c0001t0004g0312 a0001c0001t0004g0313 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0320 a0001c0001t0004g0323 a0001c0001t0004g0324	10	358	0.0279	25	c.400 others(42): Show c.400-3626_400-3625insATATATATTTTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF2K_chr16_22201278_22293738	22226517	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0007 a0003c0004t0005g0007	1	290	0.0035	25	c.246 others(40): Show c.246+557_246+558insTTTTTTTTTTTTTTTTTTTTTTTTT	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
EEF2K_chr16_22201278_22293738	22289395	T T	TAAATAAA others(18): Show TAAATAAATAAATAAATAAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0262 a0002c0003t0003g0262	1	290	0.0035	25	c.53 others(36): Show c.5399_*5400insAAATAAATAAATAAATAAATAAATA	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding		658		chr16	TogoVar
EEFSEC_chr3_128148481_128413646	128150928	A A	AATATATT others(18): Show AATATATTCTATATATTATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	272	0.0037	25	c.-25 others(36): Show c.-2580_-2579insATATATTCTATATATTATATATATT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		2552		chr3	TogoVar
EEIG2_chr1_108555100_108644322	108579796	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0121 a0001c0001t0006g0121	1	272	0.0037	25	c.137 others(44): Show c.137+19231_137+19232insGAGAGAGAGAGAGAGAGAGAGAGAG	EEIG2	ENSG00000162636.16	transcript	ENST00000370035.8	protein_coding	1/10			chr1	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 NA20129.hp1 NA21309.hp2 HG01074.hp1 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0010 a0001c0001 a0001c0004 a0001c0010	a0001c0001t0067 a0001c0004t0012 a0001c0010t0025 a0001c0001t0067 a0001c0004t0012 a0001c0010t0025	a0001c0001t0067g0306 a0001c0004t0012g0324 a0001c0010t0025g0060 a0001c0001t0067g0306 a0001c0004t0012g0324 a0001c0010t0025g0060	3	346	0.0087	25	c.-20 others(36): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EEPD1_chr7_36148254_36306538	36235111	C C	CACAGCCT others(18): Show CACAGCCTCCAGCCCAGGCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02572.hp2 NA20129.hp1 HG01255.hp2 HG02572.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0010 a0001c0001t0039 a0001c0010t0025 a0001c0001t0010 a0001c0001t0039 a0001c0010t0025	a0001c0001t0010g0105 a0001c0001t0039g0002 a0001c0010t0025g0060 a0001c0001t0010g0105 a0001c0001t0039g0002 a0001c0010t0025g0060	3	346	0.0087	25	c.879 others(42): Show c.879-3836_879-3812dupCCAGGCCTCCCCTACAGCCTCCAGC	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	428	0.0023	25	c.107 others(40): Show c.107-670_107-669insATATATATATATATATATATATATT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB11_chr14_89789669_89959730	89929031	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02809.hp1 HG02896.hp1 others(2): Show HG01891.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0007 a0001c0002 a0001c0009 a0002c0007	a0001c0002t0001 a0001c0002t0002 a0001c0002t0027 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0027 a0001c0009t0002 a0002c0007t0009	a0001c0002t0001g0169 a0001c0002t0002g0168 a0001c0002t0027g0170 others(2): Show a0001c0002t0001g0169 a0001c0002t0002g0168 a0001c0002t0027g0170 a0001c0009t0002g0273 a0002c0007t0009g0255	5	284	0.0176	25	c.410 others(42): Show c.410+2509_410+2510insAAATATATATATATATATATATATA	EFCAB11	ENSG00000140025.16	transcript	ENST00000316738.12	protein_coding	5/5			chr14	TogoVar
EFCAB13_chr17_47318955_47446312	47390914	G G	GTCTTATC others(18): Show GTCTTATCTATCTGTCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 NA18906.hp1 others(3): Show HG00408.hp1 HG00423.hp2 NA18906.hp1 NA18963.hp1 NA18965.hp2 NA19065.hp1	a0006 a0008 a0006 a0008	a0006c0007 a0008c0011 a0006c0007 a0008c0011	a0006c0007t0001 a0008c0011t0001 a0006c0007t0001 a0008c0011t0001	a0006c0007t0001g0059 a0006c0007t0001g0062 a0006c0007t0001g0339 others(3): Show a0006c0007t0001g0059 a0006c0007t0001g0062 a0006c0007t0001g0339 a0006c0007t0001g0340 a0006c0007t0001g0341 a0008c0011t0001g0273	6	356	0.0169	25	c.158 others(42): Show c.1583-520_1583-519insTATCTATCTGTCTATCTATCTATCT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp1 HG00642.hp2 others(1): Show HG00323.hp2 HG00642.hp1 HG00642.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 others(1): Show a0001c0001t0001 a0001c0006t0002 a0001c0006t0003 a0002c0002t0003	a0001c0001t0001g0159 a0001c0006t0002g0092 a0001c0006t0003g0096 others(1): Show a0001c0001t0001g0159 a0001c0006t0002g0092 a0001c0006t0003g0096 a0002c0002t0003g0315	4	356	0.0112	25	c.249 others(44): Show c.2495-4942_2495-4918dupTTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0261 a0002c0002t0001g0261	1	284	0.0035	25	c.209 others(40): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32939152	T T	TTTCTTTC others(18): Show TTTCTTTCTTTCTTTCTTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0025 a0002c0002t0002g0025	1	284	0.0035	25	c.279 others(44): Show c.2791-4463_2791-4462insCTTCTTCTTTCTTTCTTTCTTTCTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHB_chr3_19874472_19939217	19892855	C C	CTAAAATA others(18): Show CTAAAATAAAATAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02486.hp1 HG01243.hp1 HG02486.hp1	a0002 a0006 a0002 a0006	a0002c0010 a0006c0027 a0002c0010 a0006c0027	a0002c0010t0002 a0006c0027t0002 a0002c0010t0002 a0006c0027t0002	a0002c0010t0002g0188 a0006c0027t0002g0314 a0002c0010t0002g0188 a0006c0027t0002g0314	2	344	0.0058	25	c.172 others(44): Show c.1725+3807_1725+3831dupTTTTATTTTATTTTATTTTATTTTA	EFHB	ENSG00000163576.18	transcript	ENST00000295824.14	protein_coding	9/12			chr3	TogoVar
EFHC2_chrX_44142872_44348672	44342618	T T	TGTAATCC others(18): Show TGTAATCCCAGCACTTTGGGAGACCG	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0003 a0001c0001t0015g0003	1	221	0.0045	25	c.42+ others(38): Show c.42+904_42+928dupCGGTCTCCCAAAGTGCTGGGATTAC	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	1/14			chrX	TogoVar
EFNA5_chr5_107371894_107675937	107399318	C C	CGGAAAGG others(18): Show CGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18957.hp2 NA18978.hp1 others(1): Show HG03195.hp2 NA18957.hp2 NA18978.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0030 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0030 a0001c0001t0060	a0001c0001t0003g0032 a0001c0001t0004g0153 a0001c0001t0030g0159 others(1): Show a0001c0001t0003g0032 a0001c0001t0004g0153 a0001c0001t0030g0159 a0001c0001t0060g0088	4	190	0.0211	25	c.419 others(44): Show c.419-11572_419-11548dupTTTCCTTTCCTTTCCTTTCCTTTCC	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591926	A A	AATATATA others(18): Show AATATATAATATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0047 a0001c0001t0007g0047	1	190	0.0053	25	c.125 others(44): Show c.125+78562_125+78563insAATATATATTATATATATTATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591951	A A	AATATATA others(18): Show AATATATAATATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00609.hp2 others(20): Show HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG01981.hp2 HG02273.hp1 HG02300.hp2 HG03239.hp1 HG04199.hp1 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18957.hp1 NA18982.hp2 NA18983.hp1 NA18994.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19070.hp2 NA19081.hp1 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0021 a0001c0001t0026 a0001c0001t0070 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0100	a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0136 others(20): Show a0001c0001t0001g0078 a0001c0001t0001g0104 a0001c0001t0001g0136 a0001c0001t0002g0081 a0001c0001t0002g0120 a0001c0001t0002g0162 a0001c0001t0003g0019 a0001c0001t0005g0051 a0001c0001t0005g0065 a0001c0001t0016g0053 a0001c0001t0021g0160 a0001c0001t0026g0161 a0001c0001t0070g0021 a0001c0001t0074g0031 a0001c0001t0076g0020 a0001c0001t0077g0063 a0001c0001t0084g0163 a0001c0001t0085g0055 a0001c0001t0086g0054 a0001c0001t0093g0058 a0001c0001t0095g0044 a0001c0001t0096g0062 a0001c0001t0100g0190	23	190	0.1211	25	c.125 others(44): Show c.125+78537_125+78538insAATATATATTATATATATTATATAT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG01175.hp1 HG01192.hp2 others(20): Show HG00673.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp1 HG02074.hp1 HG02717.hp2 HG02809.hp1 HG02976.hp2 HG03453.hp2 HG03688.hp1 HG04115.hp1 NA18947.hp2 NA18963.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18978.hp2 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0006	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0004c0006t0002	a0001c0001t0001g0184 a0001c0003t0003g0045 a0001c0003t0003g0047 others(20): Show a0001c0001t0001g0184 a0001c0003t0003g0045 a0001c0003t0003g0047 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0058 a0001c0003t0003g0059 a0001c0003t0003g0067 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0075 a0001c0003t0003g0077 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0085 a0002c0002t0002g0295 a0004c0006t0002g0022 a0004c0006t0002g0374	23	412	0.0558	25	c.72 others(36): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03492.hp2 HG03831.hp1 HG02735.hp1 HG03492.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0102	3	306	0.0098	25	c.7+4 others(38): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTTTTTTTT	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(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0197 a0001c0001t0028g0197	1	306	0.0033	25	c.8-1 others(40): Show c.8-11038_8-11014dupTTTTTTTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EGF_chr4_109907883_110018766	109932376	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	388	0.0026	25	c.128 others(42): Show c.128-8569_128-8568insTATATATATATATATATATATATAA	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(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03540.hp2 HG00738.hp1 HG03540.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0030 a0001c0001 a0024c0030	a0001c0001t0004 a0024c0030t0016 a0001c0001t0004 a0024c0030t0016	a0001c0001t0004g0298 a0024c0030t0016g0310 a0001c0001t0004g0298 a0024c0030t0016g0310	2	388	0.0052	25	c.128 others(42): Show c.128-8569_128-8568insTATATATATATATATATATATATAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGF_chr4_109907883_110018766	109932380	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0033 a0003c0003t0005g0033	1	388	0.0026	25	c.128 others(42): Show c.128-8566_128-8565insATATATATATATATATATATATATA	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	1/23			chr4	TogoVar
EGF_chr4_109907883_110018766	109951146	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	388	0.0026	25	c.940 others(42): Show c.940+5902_940+5926dupAAAATAAAATAAAATAAAATAAAAT	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EHBP1_chr2_62700713_63051487	63019892	G G	GAAGGAAG others(18): Show GAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	198	0.0051	25	c.310 others(46): Show c.3104-17641_3104-17640insGGAAGGAAGGAAGGAAGGAAGGAA A	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	398	0.0025	25	c.915 others(42): Show c.915+5056_915+5057insATATATATATATATATATATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHHADH_chr3_185185624_185259049	185213119	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02630.hp1 HG02896.hp2 others(1): Show HG01175.hp1 HG02630.hp1 HG02896.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026	4	348	0.0115	25	c.568 others(42): Show c.568+4992_568+5016dupTTTTTTTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	5/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137721151	A A	ACCCCTCC others(18): Show ACCCCTCCCAGACTTCTCACACTCAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02970.hp1 HG02970.hp2 others(2): Show HG02280.hp1 HG02970.hp1 HG02970.hp2 HG03209.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0004 a0001c0006 a0001c0008 others(1): Show a0001c0004 a0001c0006 a0001c0008 a0008c0026	a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 others(1): Show a0001c0004t0001 a0001c0006t0001 a0001c0008t0001 a0008c0026t0001	a0001c0004t0001g0157 a0001c0006t0001g0154 a0001c0006t0001g0159 others(2): Show a0001c0004t0001g0157 a0001c0006t0001g0154 a0001c0006t0001g0159 a0001c0008t0001g0156 a0008c0026t0001g0167	5	170	0.0294	25	c.642 others(42): Show c.642+3998_642+4022dupCTCCCAGACTTCTCACACTCACCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137721200	A A	ACCCCTCC others(18): Show ACCCCTCCCAGACTTCTCACACTCGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	170	0.0059	25	c.642 others(42): Show c.642+4041_642+4042insGCCCCCTCCCAGACTTCTCACACTC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137841076	T T	TCGTATCG others(18): Show TCGTATCGTCCACACCACCTTCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	170	0.0059	25	c.61 others(36): Show c.6123_*6124insCGTATCGTCCACACCACCTTCCCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding		4950		chr9	TogoVar
EIF2AK1_chr7_6017247_6064175	6045753	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19075.hp1 NA20129.hp2 NA19066.hp1 NA19075.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0009 a0002c0003t0001 a0002c0003t0009	a0002c0003t0001g0234 a0002c0003t0001g0273 a0002c0003t0009g0237 a0002c0003t0001g0234 a0002c0003t0001g0273 a0002c0003t0009g0237	3	418	0.0072	25	c.630 others(40): Show c.630+317_630+318insATATATATATATATATATATATATA	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	6/14			chr7	TogoVar
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0147 a0001c0002t0009g0175 a0001c0002t0009g0147 a0001c0002t0009g0175	2	418	0.0048	25	c.119 others(42): Show c.119-1910_119-1909insATATATATATATATATTTTTTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2B2_chr14_74997921_75017366	75004689	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0067 a0001c0001t0010g0067	1	326	0.0031	25	c.434 others(38): Show c.434-47_434-46insATATATATATATATATATATTTTTT	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(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0187 a0001c0002t0001g0187	1	322	0.0031	25	c.295 others(40): Show c.295-753_295-752insAAATATATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44942417	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	322	0.0031	25	c.295 others(40): Show c.295-753_295-752insAAAAAAATATATATATATATATATA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44951954	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02738.hp2 others(9): Show HG00735.hp2 HG01243.hp1 HG02738.hp2 HG03492.hp2 HG03834.hp2 NA18942.hp2 NA18986.hp1 NA18989.hp2 NA19004.hp1 NA19063.hp2 NA19067.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0044 others(9): Show a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0072 a0001c0001t0002g0077 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0089 a0001c0001t0002g0113 a0001c0002t0001g0229	12	322	0.0373	25	c.295 others(44): Show c.295-10314_295-10290dupAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03492.hp2 HG04204.hp2 others(2): Show HG02895.hp2 HG03492.hp2 HG04204.hp2 NA18939.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(2): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0124	5	322	0.0155	25	c.-10 others(42): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar

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