JoGo: Joint Open Genome and Omics Platform

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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
DYRK1A_chr21_37361773_37531358	37479612	G G	GTTTTTGT others(23): Show GTTTTTGTTTTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0037 a0001c0001t0006g0037	1	350	0.0029	30	c.301 others(47): Show c.301-1021_301-1020insGTTTTTGTTTTTTTTTTTTTTTTTTTTT TT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK1A_chr21_37361773_37531358	37519743	T T	TTTTTGTT others(23): Show TTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01081.hp1 others(10): Show HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp2 HG02080.hp1 HG02559.hp1 HG02818.hp1 HG02970.hp2 HG03453.hp2 HG03516.hp2 NA18981.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 others(4): Show a0001c0001t0020 a0001c0001t0021 a0001c0001t0027 a0001c0001t0077 a0001c0001t0137 a0001c0001t0172 a0001c0002t0028	a0001c0001t0020g0196 a0001c0001t0020g0198 a0001c0001t0020g0229 others(10): Show a0001c0001t0020g0196 a0001c0001t0020g0198 a0001c0001t0020g0229 a0001c0001t0021g0243 a0001c0001t0021g0245 a0001c0001t0021g0246 a0001c0001t0027g0331 a0001c0001t0027g0343 a0001c0001t0077g0342 a0001c0001t0137g0247 a0001c0001t0172g0244 a0001c0002t0028g0328 a0001c0002t0028g0329	13	350	0.0371	30	c.72 others(41): Show c.7216_*7217insGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT	DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	12/12	7217	INFO_REALIGN_3_PRIME	chr21	TogoVar
DYRK4_chr12_4557208_4618875	4575298	A A	ATTGTGTG others(23): Show ATTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03453.hp1 NA19009.hp1 HG01243.hp2 HG03453.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0029 a0001c0001 a0001c0002 a0001c0029	a0001c0001t0001 a0001c0002t0001 a0001c0029t0001 a0001c0001t0001 a0001c0002t0001 a0001c0029t0001	a0001c0001t0001g0077 a0001c0002t0001g0238 a0001c0029t0001g0344 a0001c0001t0001g0077 a0001c0002t0001g0238 a0001c0029t0001g0344	3	414	0.0073	30	c.132 others(47): Show c.132+7250_132+7251insTTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	DYRK4	ENSG00000010219.14	transcript	ENST00000543431.6	protein_coding	2/14			chr12	TogoVar
DYSF_chr2_71448561_71691763	71560417	G G	GCCCCAGC others(23): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02109.hp1 HG02165.hp1 others(13): Show HG01099.hp1 HG02109.hp1 HG02165.hp1 HG02258.hp1 HG02280.hp1 HG02630.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 NA18906.hp2 NA20129.hp1 NA20805.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0007 a0015 a0018	a0001c0004 a0001c0005 a0001c0018 others(10): Show a0001c0004 a0001c0005 a0001c0018 a0001c0019 a0001c0031 a0001c0034 a0001c0047 a0001c0073 a0003c0082 a0004c0008 a0007c0028 a0015c0033 a0018c0059	a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 others(12): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0018t0001 a0001c0019t0002 a0001c0031t0001 a0001c0034t0001 a0001c0047t0002 a0001c0073t0001 a0003c0082t0003 a0004c0008t0001 a0007c0028t0004 a0015c0033t0001 a0018c0059t0001	a0001c0004t0001g0149 a0001c0004t0002g0024 a0001c0004t0003g0065 others(13): Show a0001c0004t0001g0149 a0001c0004t0002g0024 a0001c0004t0003g0065 a0001c0004t0003g0084 a0001c0005t0001g0056 a0001c0018t0001g0004 a0001c0019t0002g0165 a0001c0031t0001g0186 a0001c0034t0001g0092 a0001c0047t0002g0183 a0001c0073t0001g0005 a0003c0082t0003g0185 a0004c0008t0001g0032 a0007c0028t0004g0047 a0015c0033t0001g0064 a0018c0059t0001g0093	16	192	0.0833	30	c.216 others(49): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCC	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71448561_71691763	71560421	C C	CAGCACAG others(23): Show CAGCACAGGGCTCCGGCCCAGGCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03041.hp1 others(4): Show HG02615.hp2 HG02717.hp1 HG03041.hp1 HG03225.hp2 HG03453.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0007 a0001c0019 a0003c0062 others(1): Show a0001c0007 a0001c0019 a0003c0062 a0005c0060	a0001c0007t0001 a0001c0007t0002 a0001c0019t0001 others(2): Show a0001c0007t0001 a0001c0007t0002 a0001c0019t0001 a0003c0062t0001 a0005c0060t0002	a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 others(4): Show a0001c0007t0001g0063 a0001c0007t0002g0014 a0001c0007t0002g0016 a0001c0007t0002g0142 a0001c0019t0001g0044 a0003c0062t0001g0102 a0005c0060t0002g0143	7	192	0.0365	30	c.216 others(49): Show c.2163-1331_2163-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCT	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	22/54			chr2	TogoVar
DYSF_chr2_71461699_71691763	71560417	G G	GCCCCAGC others(23): Show GCCCCAGCACAGGGCTCCGGCCCAGGCCCCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01261.hp2 HG02109.hp1 others(17): Show HG01099.hp1 HG01261.hp2 HG02109.hp1 HG02165.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp1 HG03669.hp1 NA18906.hp1 NA20129.hp2 NA20805.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0009 a0016 a0020 a0027	a0001c0004 a0001c0005 a0001c0019 others(13): Show a0001c0004 a0001c0005 a0001c0019 a0001c0032 a0001c0037 a0001c0048 a0001c0060 a0001c0074 a0001c0078 a0003c0088 a0004c0011 a0005c0034 a0009c0029 a0016c0036 a0020c0062 a0027c0059	a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 others(14): Show a0001c0004t0001 a0001c0004t0003 a0001c0005t0001 a0001c0019t0002 a0001c0032t0002 a0001c0037t0001 a0001c0048t0002 a0001c0060t0001 a0001c0074t0001 a0001c0078t0001 a0003c0088t0006 a0004c0011t0001 a0005c0034t0002 a0009c0029t0005 a0016c0036t0001 a0020c0062t0001 a0027c0059t0005	a0001c0004t0001g0032 a0001c0004t0003g0112 a0001c0004t0003g0113 others(17): Show a0001c0004t0001g0032 a0001c0004t0003g0112 a0001c0004t0003g0113 a0001c0004t0003g0134 a0001c0005t0001g0062 a0001c0005t0001g0087 a0001c0019t0002g0171 a0001c0032t0002g0193 a0001c0037t0001g0044 a0001c0048t0002g0190 a0001c0060t0001g0197 a0001c0074t0001g0094 a0001c0078t0001g0199 a0003c0088t0006g0192 a0004c0011t0001g0081 a0005c0034t0002g0153 a0009c0029t0005g0084 a0016c0036t0001g0115 a0020c0062t0001g0045 a0027c0059t0005g0117	20	208	0.0962	30	c.221 others(49): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCC	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71560421	C C	CAGCACAG others(23): Show CAGCACAGGGCTCCGGCCCAGGCCCCCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02717.hp1 HG03041.hp2 others(4): Show HG02615.hp2 HG02717.hp1 HG03041.hp2 HG03225.hp1 HG03453.hp2 NA18906.hp2 NA20300.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0007 a0001c0019 a0003c0065 others(1): Show a0001c0007 a0001c0019 a0003c0065 a0006c0063	a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 others(3): Show a0001c0007t0001 a0001c0007t0002 a0001c0007t0004 a0001c0019t0002 a0003c0065t0001 a0006c0063t0001	a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 others(4): Show a0001c0007t0001g0139 a0001c0007t0002g0148 a0001c0007t0004g0020 a0001c0007t0004g0022 a0001c0019t0002g0187 a0003c0065t0001g0110 a0006c0063t0001g0140	7	208	0.0337	30	c.221 others(49): Show c.2217-1331_2217-1330insAGCACAGGGCTCCGGCCCAGGCCCCC CCCT	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	22/55			chr2	TogoVar
DZIP3_chr3_108584722_108699840	108622880	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTCTGTGTG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0223 a0001c0002t0001g0223	1	318	0.0031	30	c.376 others(47): Show c.376-1563_376-1562insCTCTCTCTCTCTCTCTCTCTCTCTGTGT GT	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACACACACTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACACACATACACTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0262 a0001c0002t0001g0262	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACACACATACACTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACACTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACATACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0248 a0001c0002t0001g0248	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACATACACTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACACTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACACATACACTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04199.hp1 HG04184.hp2 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0270 a0001c0002t0001g0249 a0001c0002t0001g0270	2	318	0.0063	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACACATACACTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACATACACTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0306 a0001c0001t0003g0306	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACATACACTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACACACTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02300.hp1 HG02559.hp2 others(2): Show HG02148.hp1 HG02300.hp1 HG02559.hp2 NA18956.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0202	5	318	0.0157	30	c.696 others(47): Show c.696+1880_696+1881insACACACACACACTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACACTCTCTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACAC others(23): Show ACACACACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACACTCTCTCTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACGC others(23): Show ACACACGCACACATACACTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0247	1	318	0.0031	30	c.696 others(47): Show c.696+1880_696+1881insACACGCACACATACACTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
DZIP3_chr3_108584722_108699840	108631055	A A	ACACACTC others(23): Show ACACACTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18906.hp1 HG03225.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0199 a0001c0001t0001g0200	2	318	0.0063	30	c.696 others(47): Show c.696+1880_696+1881insACACTCTCTCTCTCTCTCTCTCTCTCTC TC	DZIP3	ENSG00000198919.13	transcript	ENST00000361582.8	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
E2F1_chr20_33670477_33691385	33689719	G G	GTGCTAGG others(23): Show GTGCTAGGTGCTGGGGACACAGTTATAAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	382	0.0026	30	c.-34 others(41): Show c.-3456_-3455insTACTTATAACTGTGTCCCCAGCACCTAGCA	E2F1	ENSG00000101412.13	transcript	ENST00000343380.6	protein_coding		3335		chr20	TogoVar
E2F5_chr8_85172154_85219518	85180511	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0197 a0001c0002t0001g0197	1	336	0.0030	30	c.234 others(47): Show c.234+2872_234+2901dupATATATATATATATATATATATATATAT AT	E2F5	ENSG00000133740.11	transcript	ENST00000416274.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
E2F6_chr2_11439375_11471161	11468855	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0057 a0001c0001t0008g0057	1	366	0.0027	30	c.-29 others(41): Show c.-2977_-2976insATATATATATATTTTTTTTTTTTTTTTTTT	E2F6	ENSG00000169016.17	transcript	ENST00000381525.8	protein_coding		2695		chr2	TogoVar
EBF2_chr8_25836725_26050413	26005453	T T	TATTTTAT others(23): Show TATTTTATAAAATATAATATTATTTATAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	220	0.0046	30	c.551 others(49): Show c.551+27631_551+27632insTTTTATAAATAATATTATATTTTATA AAAT	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
ECD_chr10_73128668_73173008	73169951	T T	TTATTAAT others(23): Show TTATTAATTAAATATTAACTATAAATAAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(102): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG01074.hp1 HG01081.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01978.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02647.hp1 HG02698.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp2 HG03516.hp1 HG03579.hp2 HG03688.hp2 HG03704.hp1 HG03834.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp2 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19006.hp2 NA19009.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19077.hp1 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19085.hp1 NA20129.hp1 NA20129.hp2	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0006 a0007	a0002c0002 a0002c0003 a0002c0008 others(5): Show a0002c0002 a0002c0003 a0002c0008 a0003c0004 a0003c0005 a0005c0015 a0006c0010 a0007c0009	a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 others(7): Show a0002c0002t0002 a0002c0002t0003 a0002c0003t0002 a0002c0003t0004 a0002c0008t0002 a0003c0004t0003 a0003c0005t0003 a0005c0015t0002 a0006c0010t0003 a0007c0009t0002	a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 others(87): Show a0002c0002t0002g0009 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0019 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0075 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0003g0014 a0002c0002t0003g0040 a0002c0002t0003g0041 a0002c0002t0003g0042 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0093 a0002c0003t0002g0008 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0053 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0076 a0002c0003t0002g0079 a0002c0003t0002g0084 a0002c0003t0002g0087 a0002c0003t0002g0090 a0002c0003t0002g0091 a0002c0003t0004g0012 a0002c0003t0004g0034 a0002c0003t0004g0035 a0002c0003t0004g0036 a0002c0003t0004g0037 a0002c0008t0002g0070 a0003c0004t0003g0022 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0099 a0003c0004t0003g0100 a0003c0004t0003g0101 a0003c0004t0003g0102 a0003c0004t0003g0104 a0003c0004t0003g0105 a0003c0004t0003g0106 a0003c0004t0003g0107 a0003c0004t0003g0109 a0003c0005t0003g0020 a0003c0005t0003g0021 a0003c0005t0003g0094 a0003c0005t0003g0097 a0003c0005t0003g0098 a0005c0015t0002g0089 a0006c0010t0003g0092 a0007c0009t0002g0069	105	272	0.3860	30	c.-21 others(41): Show c.-2100_-2099insCATTTATTTATAGTTAATATTTAATTAATA	ECD	ENSG00000122882.11	transcript	ENST00000372979.9	protein_coding		1944		chr10	TogoVar
ECE1_chr1_21212250_21295463	21289051	A A	AAGAGGCG others(23): Show AAGAGGCGTATCTGAGTGGAGTGGGCCTGGC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0019 a0001c0003t0002g0019	1	304	0.0033	30	c.138 others(46): Show c.138+989_138+1018dupGCCAGGCCCACTCCACTCAGATACGCCTC T	ECE1	ENSG00000117298.16	transcript	ENST00000374893.11	protein_coding	2/18			chr1	TogoVar
ECHDC3_chr10_11737382_11769070	11742330	C C	CCGGGGCG others(23): Show CCGGGGCGGGGCGGGGCGGGGCGTGCCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0013 a0013	a0013c0025 a0013c0025	a0013c0025t0001 a0013c0025t0001	a0013c0025t0001g0197 a0013c0025t0001g0197	1	420	0.0024	30	c.-24 others(39): Show c.-247_-246insCGGGGCGGGGCGGGGCGGGGCGTGCCGGGG	ECHDC3	ENSG00000134463.15	transcript	ENST00000379215.9	protein_coding		51		chr10	TogoVar
ECM2_chr9_92490315_92540990	92532015	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0055 a0003c0004t0002g0055	1	400	0.0025	30	c.-28 others(47): Show c.-28+3917_-28+3918insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9			chr9	TogoVar
ECPAS_chr9_111355685_111489383	111468689	C C	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp2 HG01346.hp1 others(8): Show HG00597.hp1 HG00621.hp2 HG01346.hp1 HG02056.hp1 NA18949.hp2 NA18983.hp2 NA18992.hp1 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA20805.hp1	a0002 a0003 a0009 a0002 a0003 a0009	a0002c0003 a0003c0005 a0009c0016 a0002c0003 a0003c0005 a0009c0016	a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 others(1): Show a0002c0003t0001 a0002c0003t0003 a0003c0005t0002 a0009c0016t0002	a0002c0003t0001g0269 a0002c0003t0001g0272 a0002c0003t0003g0278 others(8): Show a0002c0003t0001g0269 a0002c0003t0001g0272 a0002c0003t0003g0278 a0003c0005t0002g0255 a0003c0005t0002g0257 a0003c0005t0002g0259 a0003c0005t0002g0260 a0003c0005t0002g0262 a0003c0005t0002g0274 a0003c0005t0002g0275 a0009c0016t0002g0250	11	354	0.0311	30	c.22+ others(45): Show c.22+4207_22+4208insACACACACACACACACACACACACACACAC	ECPAS	ENSG00000136813.15	transcript	ENST00000684092.1	protein_coding	2/49			chr9	TogoVar
ECSCR_chr5_139443560_139467743	139446460	C C	CTTTTCTT others(23): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	369	0.0027	30	c.24 others(41): Show c.2439_*2440insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2099		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446471	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 NA19082.hp2 HG04228.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0081 a0001c0001t0001g0001 a0001c0001t0001g0081	2	369	0.0054	30	c.24 others(41): Show c.2428_*2429insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2088		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446479	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 NA19079.hp1 HG00735.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0001 a0001c0001t0001g0007	2	369	0.0054	30	c.24 others(41): Show c.2420_*2421insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2080		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446487	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 NA18970.hp2 HG03491.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0085 a0001c0001t0001g0001 a0001c0001t0001g0085	2	369	0.0054	30	c.24 others(41): Show c.2412_*2413insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2072		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446491	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG02602.hp2 HG00280.hp1 HG00323.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0001 a0001c0001t0001g0073	3	369	0.0081	30	c.24 others(41): Show c.2408_*2409insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2068		chr5	TogoVar
ECSCR_chr5_139443560_139467743	139446495	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	369	0.0027	30	c.24 others(41): Show c.2404_*2405insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2064		chr5	TogoVar
ECT2L_chr6_138791087_138909070	138873872	C C	CTCTGTGT others(23): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0020 a0001c0018t0020	a0001c0018t0020g0007 a0001c0018t0020g0007	1	326	0.0031	30	c.157 others(49): Show c.1579-2599_1579-2598insCTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ECT2L	ENSG00000203734.13	transcript	ENST00000541398.7	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr6	TogoVar
ECT2_chr3_172745726_172826474	172797018	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0249 a0001c0001t0004g0249	1	318	0.0031	30	c.190 others(49): Show c.1908-5592_1908-5563dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	ECT2	ENSG00000114346.14	transcript	ENST00000392692.8	protein_coding	18/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
EDA_chrX_69611113_70044472	69655762	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01169.hp2 others(14): Show HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01258.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02040.hp1 HG02135.hp1 HG02148.hp2 HG02738.hp1 HG02895.hp1 HG02897.hp1 HG03041.hp1 HG03927.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0072 a0001c0001t0001g0189 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0095 a0001c0001t0003g0023 a0001c0001t0003g0025 a0001c0001t0003g0147 a0001c0001t0004g0142 a0001c0001t0009g0007 a0001c0001t0010g0126 a0001c0001t0010g0127 a0001c0001t0016g0003 a0001c0004t0001g0005	17	226	0.0752	30	c.396 others(49): Show c.396+39083_396+39084insATATATATATATATATATATATATAT ATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
EDA_chrX_69611113_70044472	69888977	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0115 a0001c0001t0003g0115	1	226	0.0044	30	c.397 others(49): Show c.397-68050_397-68049insATATATATATATATATATATATATAT ATAT	EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding	1/7			chrX	TogoVar
EDIL3_chr5_83935554_84389880	83987865	G G	GTGTGTGT others(23): Show GTGTGTGTGTATGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp1 HG03540.hp1 HG01109.hp1 HG03130.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020	a0001c0001t0003g0103 a0001c0001t0005g0148 a0001c0001t0020g0158 a0001c0001t0003g0103 a0001c0001t0005g0148 a0001c0001t0020g0158	3	158	0.0190	30	c.113 others(51): Show c.1138-24506_1138-24505insTATATATATATATATATACATACA CACACA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	9/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	158	0.0063	30	c.196 others(47): Show c.196+1590_196+1591insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84291653	T T	TATATATC others(23): Show TATATATCTATATATATATCTATCTATATAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	158	0.0063	30	c.68- others(47): Show c.68-37471_68-37442dupCTATATAGATAGATATATATATAGATAT AT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EEA1_chr12_92765637_92934295	92831587	A A	AAATATAT others(23): Show AAATATATATTTCATAAATATATAAATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG02257.hp1 HG03209.hp2 HG03225.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0045 a0001c0002t0003 a0001c0002t0045	a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 others(1): Show a0001c0002t0003g0037 a0001c0002t0003g0040 a0001c0002t0003g0041 a0001c0002t0045g0036	4	244	0.0164	30	c.125 others(47): Show c.1254+895_1254+924dupATATATTTATATATTTATGAAATATATA TT	EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	11/28			chr12	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0308 a0001c0001t0004g0308	1	358	0.0028	30	c.400 others(47): Show c.400-3626_400-3625insATATATATATATTTTTTTTTTTTTTTTT TT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02071.hp1 HG01943.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0211 a0001c0001t0003g0019 a0001c0001t0001g0211 a0001c0001t0003g0019	2	358	0.0056	30	c.400 others(47): Show c.400-3626_400-3625insATATATATATATATTTTTTTTTTTTTTT TT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0351 a0001c0009t0002g0351	1	358	0.0028	30	c.400 others(47): Show c.400-3626_400-3625insATATATATATATATATTTTTTTTTTTTT TT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01361.hp2 others(16): Show HG00558.hp2 HG01106.hp1 HG01361.hp2 HG03654.hp2 HG03831.hp1 HG03831.hp2 HG04199.hp2 NA18944.hp2 NA18957.hp1 NA18973.hp1 NA18982.hp1 NA18991.hp2 NA19001.hp2 NA19003.hp1 NA19074.hp1 NA19076.hp1 NA19079.hp2 NA19087.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0002c0002t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 others(16): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0350 a0001c0001t0003g0142 a0001c0001t0009g0141 a0001c0001t0016g0117 a0002c0002t0001g0011	19	358	0.0531	30	c.291 others(45): Show c.291+332_291+333insTATATATATATATATATATATATATATATA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124788710	T T	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02647.hp2 HG02055.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0317 a0001c0001t0004g0318	2	358	0.0056	30	c.291 others(45): Show c.291+332_291+333insTATATATATATATATATATATATATATAAA	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	3/6			chr10	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(23): Show ACGCCCCCCCCCGCCCCCCATCCTACCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00673.hp1 HG01070.hp1 others(38): Show HG00642.hp1 HG00673.hp1 HG01070.hp1 HG01361.hp1 HG01433.hp2 HG01891.hp1 HG01975.hp2 HG01978.hp2 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02965.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp2 HG03579.hp1 HG03834.hp1 NA18944.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp2 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp1 NA19068.hp1 NA19074.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0009 a0003c0004 others(1): Show a0001c0001 a0001c0009 a0003c0004 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0003c0004t0001 a0005c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 others(38): Show a0001c0001t0001g0001 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0009t0001g0040 a0003c0004t0001g0210 a0005c0013t0001g0089	41	272	0.1507	30	c.-61 others(39): Show c.-614_-613insCGCCCCCCCCCGCCCCCCATCCTACCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128152894	A A	ACGCCCCC others(23): Show ACGCCCCCCCCGCCCCCCATCCTACCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00642.hp2 others(9): Show HG00438.hp2 HG00621.hp2 HG00642.hp2 HG00735.hp2 HG02040.hp1 HG02809.hp1 HG03831.hp1 NA18944.hp1 NA18952.hp1 NA18967.hp2 NA18998.hp1 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0106 others(9): Show a0001c0001t0001g0026 a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0199 a0003c0004t0001g0212	12	272	0.0441	30	c.-61 others(39): Show c.-614_-613insCGCCCCCCCCGCCCCCCATCCTACCCCCCC	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		586		chr3	TogoVar

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