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
ACAP3_chr1_1287391_1312930	1288451	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	295	0.0034	38	c.51 others(49): Show c.5112_*5113insGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3939		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288525	T T	TCCGTCCC others(31): Show TCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	295	0.0034	38	c.50 others(49): Show c.5038_*5039insGGCAGAGACACGGGACGGAGCAGGGACACGGGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3865		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288578	T T	TCTGCCCC others(31): Show TCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	295	0.0034	38	c.49 others(49): Show c.4985_*4986insGGACACGGGACGGGGCAGAGACACGGGGGACGGG GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3812		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288621	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	295	0.0034	38	c.49 others(49): Show c.4942_*4943insGGCAGAGACACGGGGGACGGAGCAGAGACACGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3769		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288733	T T	TCCGTCCC others(31): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	295	0.0034	38	c.48 others(49): Show c.4830_*4831insGGCAGAGACACGGGGGACGGGGCAGAGACACGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3657		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289040	A A	AGTCTCTG others(31): Show AGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	295	0.0034	38	c.45 others(49): Show c.4523_*4524insACGGGACGGAGCAGAGACACGGGGGACGGAGCAG AGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3350		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289062	T T	TCTGCTCC others(31): Show TCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	295	0.0034	38	c.45 others(49): Show c.4501_*4502insGGACACGGGGGACGGAGCAGAGACACGGGACGGA GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3328		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289147	T T	TCCCCCGT others(31): Show TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	295	0.0034	38	c.44 others(49): Show c.4416_*4417insGGACGGAGCAGGGACACGGGACGGAGCAGACACG GGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3243		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289187	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0107 a0001c0003t0002g0107	1	295	0.0034	38	c.43 others(49): Show c.4376_*4377insACGGAGCAGAGACACGGGGGACGGAGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3203		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289205	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	295	0.0034	38	c.43 others(49): Show c.4358_*4359insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3185		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289409	T T	TCCGTCCC others(31): Show TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0140 a0006c0014t0002g0140	1	295	0.0034	38	c.41 others(49): Show c.4154_*4155insGGCAGAGACACGGGACGGAGCAGAGACACGGGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2981		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289471	C C	CCCCGTGT others(31): Show CCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	295	0.0034	38	c.40 others(49): Show c.4092_*4093insACGGAGCAGAGACACGGGGGACGGGGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2919		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289516	T T	TCCCTGCT others(31): Show TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	295	0.0034	38	c.40 others(49): Show c.4047_*4048insGGACACGGGACGGAGCAGAGACACGGGACGGAGC AGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2874		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289566	T T	TGTCTCTG others(31): Show TGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	295	0.0034	38	c.39 others(49): Show c.3997_*3998insTCGGGGGACGGAGCAGGGACACGGGACGGAGCAG AGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2824		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289570	C C	CCTGCTCC others(31): Show CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	295	0.0034	38	c.39 others(49): Show c.3993_*3994insAGACACGGGGGACGGAGCAGAGACACGGGACGGA GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2820		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289579	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	295	0.0034	38	c.39 others(49): Show c.3984_*3985insGGACGGAGCAGACACGGGGGACGGAGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2811		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289647	T T	TCCGTCCC others(31): Show TCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	295	0.0034	38	c.39 others(49): Show c.3916_*3917insGGCAGAGACACGGGACGGGGCAGAGACACGGGGG ACGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2743		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289660	C C	CCTGCTCC others(31): Show CCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	295	0.0034	38	c.39 others(49): Show c.3903_*3904insAGACACGGGGGACGGAGCAGGGACACGGGACGGA GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2730		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289707	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	295	0.0034	38	c.38 others(49): Show c.3856_*3857insGGACGGAGCAGAGACACGGGACGGGGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2683		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289803	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	295	0.0034	38	c.37 others(49): Show c.3760_*3761insGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2587		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289982	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0177 a0001c0001t0001g0013 a0001c0001t0001g0177	2	295	0.0068	38	c.35 others(49): Show c.3581_*3582insGGACGGAGCAGAGACACGGGACGGAGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2408		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289987	T T	TGTCTCTG others(31): Show TGTCTCTGCTCTGTCCCGTGTCCCTGCTCCGTCCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0138 a0001c0001t0002g0138	1	295	0.0034	38	c.35 others(49): Show c.3576_*3577insTCGGGGGACGGAGCAGGGACACGGGACAGAGCAG AGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2403		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290027	T T	TCTGCTCC others(31): Show TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	295	0.0034	38	c.35 others(49): Show c.3536_*3537insGGACACGGGACGGAGCAGAGACACGGGGGACGGA GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2363		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290045	C C	CCTGCTCC others(31): Show CCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	295	0.0034	38	c.35 others(49): Show c.3518_*3519insAGACACGGGACGGAGCAGAGACTCGGGGGACGGA GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2345		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290077	T T	TGTCCCTG others(31): Show TGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02451.hp2 HG03579.hp1 others(1): Show HG02257.hp2 HG02451.hp2 HG03579.hp1 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0008 a0001c0001 a0008c0008	a0001c0001t0001 a0008c0008t0001 a0001c0001t0001 a0008c0008t0001	a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0067 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0066 a0001c0001t0001g0067 a0008c0008t0001g0035	4	295	0.0136	38	c.34 others(49): Show c.3486_*3487insTCGGGGGACGGAGCAGGGACACGGGACGGAGCAG GGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2313		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290108	T T	TCCCGTGT others(31): Show TCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	295	0.0034	38	c.34 others(49): Show c.3455_*3456insGGACGGGGCAGAGACACGGGACGGGGCAGAGACA CGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2282		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290173	C C	CCTGCTCC others(31): Show CCTGCTCCCTCCCGTGTCTCTGCCCCGTCCCCCGTGTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0168 a0001c0011t0001g0168	1	295	0.0034	38	c.33 others(49): Show c.3390_*3391insAGACACGGGGGACGGGGCAGAGACACGGGAGGGA GCAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2217		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18961.hp2 NA18966.hp1 HG04199.hp2 NA18961.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144	3	386	0.0078	38	c.73- others(51): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp1 HG02970.hp2 others(3): Show HG01109.hp1 HG01496.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG06807.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0162 a0002c0003t0001g0009 a0002c0003t0001g0162	6	438	0.0137	38	c.489 others(51): Show c.489+94_489+95insCTTTCTTCCTTTCTCTTTCTTTCTTTCTTTCT TTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074750	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0180 a0002c0003t0001g0180	1	438	0.0023	38	c.489 others(51): Show c.489+94_489+95insCTTTCTTTCTTTCTCTTTCTTTCTTTCTTTCT TTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACCS_chr11_44061270_44089237	44074754	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0278 a0002c0003t0001g0278	1	438	0.0023	38	c.489 others(51): Show c.489+94_489+95insCTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTTT	ACCS	ENSG00000110455.14	transcript	ENST00000263776.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACER1_chr19_6301142_6338612	6329356	T T	TAGAATAG others(31): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0343 a0001c0001t0005g0343	1	396	0.0025	38	c.93+ others(53): Show c.93+4102_93+4103insTCTATTCTATTCTATTCTATTCTATTCTAT TCTATTCT	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACE_chr17_63472061_63503373	63474872	G G	GAAGCTGG others(31): Show GAAGCTGGGGGATTTAACAAGCCATTCTAATAAAGCGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0002 a0001c0013t0002g0002	1	374	0.0027	38	c.-22 others(49): Show c.-2223_-2222insAAGCTGGGGGATTTAACAAGCCATTCTAATAAAG CGTT	ACE	ENSG00000159640.17	transcript	ENST00000290866.10	protein_coding		2188		chr17	TogoVar
ACMSD_chr2_134833616_134907034	134840193	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	382	0.0026	38	c.57+ others(53): Show c.57+1454_57+1455insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAACC	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	1/9			chr2	TogoVar
ACOXL_chr2_110727573_111123548	110950810	G G	GGAGAGAG others(31): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01496.hp2 NA18950.hp1 others(2): Show HG01168.hp2 HG01496.hp2 NA18950.hp1 NA18998.hp1 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0075 a0001c0003t0001g0087 a0001c0003t0001g0089 others(2): Show a0001c0003t0001g0075 a0001c0003t0001g0087 a0001c0003t0001g0089 a0001c0003t0002g0043 a0001c0003t0002g0083	5	150	0.0333	38	c.105 others(59): Show c.1059+17193_1059+17194insAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAG	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACP3_chr3_132312407_132363841	132325595	A A	AACACACA others(31): Show AACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02965.hp1 HG02738.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0118 a0001c0002t0003g0173 a0001c0001t0001g0118 a0001c0002t0003g0173	2	368	0.0054	38	c.121 others(55): Show c.121-2648_121-2647insACACACACACACACACACACACACACAC ACACACACAC	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0210 a0001c0005t0010g0210	1	402	0.0025	38	c.122 others(55): Show c.122-5285_122-5284insTTCTTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACP7_chr19_39079368_39116493	39093172	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00642.hp1 HG00735.hp2 others(22): Show HG00140.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp2 HG02055.hp1 HG02615.hp1 HG02683.hp2 HG02735.hp2 HG03834.hp1 HG04204.hp1 NA19005.hp2 NA19007.hp2 NA19077.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0011 a0003c0013	a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0014 a0001c0002t0005 a0001c0004t0004 a0001c0007t0006 a0002c0011t0004 a0003c0013t0006	a0001c0001t0001g0225 a0001c0001t0001g0333 a0001c0001t0001g0334 others(22): Show a0001c0001t0001g0225 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0378 a0001c0001t0001g0379 a0001c0001t0001g0380 a0001c0001t0001g0381 a0001c0001t0001g0383 a0001c0001t0001g0384 a0001c0001t0006g0136 a0001c0001t0014g0137 a0001c0002t0005g0332 a0001c0004t0004g0347 a0001c0007t0006g0104 a0001c0007t0006g0109 a0002c0011t0004g0047 a0002c0011t0004g0072 a0003c0013t0006g0108	25	402	0.0622	38	c.122 others(55): Show c.122-5285_122-5284insTTCTTTCTTTCTTTCCTTCCTTCCTTCC TTCCTTCCTT	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02735.hp2 HG02965.hp1 HG00733.hp1 HG02735.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0189 a0001c0001t0001g0299 a0001c0001t0001g0070 a0001c0001t0001g0189 a0001c0001t0001g0299	3	364	0.0082	38	c.159 others(55): Show c.1593+779_1593+780insTATATATATATATATATATATATATATA TATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSM2B_chr16_20531226_20581367	20566718	G G	GTATATAT others(31): Show GTATATATATACTATATATACTATATATAGTATATACTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19081.hp2 NA18990.hp2 NA19081.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0306 a0001c0006t0001g0307 a0001c0006t0001g0306 a0001c0006t0001g0307	2	388	0.0052	38	c.-8- others(53): Show c.-8-1866_-8-1865insTAGTATATACTATATATAGTATATATAGTA TATATATA	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTC1_chr15_34785230_34800549	34787758	G G	GTCTATTA others(31): Show GTCTATTACTTTTTTTCTTTTTCTTATATATTTTTTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	496	0.0020	38	c.26 others(49): Show c.2653_*2654insGACAAAAAATATATAAGAAAAAGAAAAAAAGTAA TAGA	ACTC1	ENSG00000159251.9	transcript	ENST00000290378.6	protein_coding		2471		chr15	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(31): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	284	0.0035	38	c.195 others(55): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp2 HG02015.hp2 others(9): Show HG00639.hp1 HG01943.hp2 HG02015.hp2 HG02080.hp1 HG02738.hp1 HG02738.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 NA18955.hp1 NA18989.hp1 NA19077.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0023 a0001c0001 a0007c0023	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0007c0023t0001	a0001c0001t0001g0042 a0001c0001t0001g0253 a0001c0001t0001g0260 others(9): Show a0001c0001t0001g0042 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0321 a0001c0001t0003g0020 a0001c0001t0003g0149 a0001c0001t0003g0207 a0001c0001t0003g0272 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0025g0010 a0007c0023t0001g0332	12	344	0.0349	38	c.876 others(51): Show c.876+83_876+84insTATATATATATATATATATATATATATATATA TATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737297	G G	GTATGTAT others(31): Show GTATGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0140 a0001c0001t0003g0140	1	344	0.0029	38	c.876 others(51): Show c.876+83_876+84insTATGTATATATATATATATATATATATATATA TATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN2_chr1_236681499_236769631	236737298	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG04184.hp1 HG02683.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0301 a0001c0001t0002g0156 a0001c0001t0001g0301 a0001c0001t0002g0156	2	344	0.0058	38	c.876 others(53): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATAT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ADA2_chr22_17173790_17224435	17184983	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0069 a0001c0010t0002g0069	1	408	0.0025	38	c.108 others(57): Show c.1082-2223_1082-2222insATATATATATATATATATATATATAT ATATATATATAT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	7/9			chr22	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0165 a0002c0002t0009g0165	1	408	0.0025	38	c.973 others(53): Show c.973-422_973-421insATATATATATATATATATATATATATATTT TTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar
ADAM10_chr15_58583809_58754707	58688766	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0099 a0001c0001t0032g0099	1	342	0.0029	38	c.207 others(55): Show c.207-6453_207-6452insTATATATATATATATATATATATATATA TATATATATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	2/15			chr15	TogoVar
ADAM12_chr10_126007391_126393477	126086680	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0103 a0002c0005t0009g0103	1	252	0.0040	38	c.114 others(57): Show c.1145+7304_1145+7305insATATATATATATATATATATATTTTT TTTTTTTTTTTT	ADAM12	ENSG00000148848.15	transcript	ENST00000448723.2	protein_coding	11/22			chr10	TogoVar
ADAM17_chr2_9483486_9560830	9520964	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	234	0.0043	38	c.957 others(53): Show c.957+238_957+239insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	8/18			chr2	TogoVar

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