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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⚠️ 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
TNNT3_chr11_1914703_1943702	1942138	T T	TGGGAGGG others(97): Show TGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAG GGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGGGGGGGG AGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	125	0.0080	104	c.36 others(115): Show c.3646_*3647insGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGG GGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGG AAGGTGGGGGGGGGGAGGGG	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		3437		chr11	TogoVar
TNNT3_chr11_1914703_1943702	1942138	T T	TGGGAGGG others(97): Show TGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAG GGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGGGGGGGG GAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG02129.hp2 HG00280.hp1 HG00558.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0046	3	125	0.0240	104	c.36 others(115): Show c.3646_*3647insGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGG GGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGG AAGGTGGGGGGGGGGGAGGG	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		3437		chr11	TogoVar
TNNT3_chr11_1914703_1943702	1942146	A A	AGGGGGGA others(97): Show AGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGG GAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGGGGGGGAGGGGGGGA GGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0016 a0001c0002t0001g0016	1	125	0.0080	104	c.36 others(115): Show c.3654_*3655insGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAG GTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGG GGGGGGAGGGGGGGAGGGAG	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		3445		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGTTAG others(97): Show GGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	466	0.0022	104	c.50 others(115): Show c.5048_*5049insAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCT AACCCCGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(97): Show CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG TTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAG GGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0026 a0002c0002t0002g0026	1	466	0.0022	104	c.49 others(115): Show c.4971_*4972insCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(97): Show CTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG TTAGGGAGGCTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGTTAG GGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	104	c.49 others(115): Show c.4971_*4972insCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCT TCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAA CCCCAGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930709	C C	CTGGGGTT others(97): Show CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAG GGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0076 a0001c0001t0020g0076	1	466	0.0022	104	c.48 others(115): Show c.4881_*4882insCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTC CCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4660		chr11	TogoVar
TP73_chr1_3647516_3741201	3694168	C C	CCCCCTCC others(97): Show CCCCCTCCTCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAA TCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGC CTCAG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0000 a0000	a0000c0023 a0000c0023	a0000c0023t0055 a0000c0023t0055	a0000c0023t0055g0326 a0000c0023t0055g0326	1	358	0.0028	104	c.186 others(123): Show c.186+10998_186+10999insGCAATCCCAGCCATGCAGCCTCAGCC CCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATC CCAGCCATGCAGCCTCAGCCCCTCCTCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694168	C C	CCCCTCCT others(97): Show CCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCACAA TCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGC CTCAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA19081.hp2 NA18989.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0237 a0001c0001t0013g0056 a0001c0001t0002g0237 a0001c0001t0013g0056	2	358	0.0056	104	c.186 others(123): Show c.186+10991_186+10992insTCCTCCCGCAATCCCAGCCATGCAGC CTCAGCCCCTCCTCCCACAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCATGCAGCCTCAGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694168	C C	CCCCTCCT others(97): Show CCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAA TCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGC CTCAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00673.hp1 HG01069.hp1 others(10): Show HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01169.hp1 HG01256.hp1 HG01258.hp2 HG02080.hp2 HG02135.hp1 HG03831.hp2 HG03927.hp1 NA18612.hp2 NA18948.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0022 a0001c0001 a0001c0002 a0001c0022	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0048 a0001c0002t0001 a0001c0002t0002 a0001c0002t0025 a0001c0022t0002	a0001c0001t0002g0062 a0001c0001t0002g0267 a0001c0001t0002g0268 others(10): Show a0001c0001t0002g0062 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0287 a0001c0001t0004g0104 a0001c0001t0004g0298 a0001c0001t0007g0311 a0001c0001t0048g0327 a0001c0002t0001g0280 a0001c0002t0001g0294 a0001c0002t0002g0129 a0001c0002t0025g0277 a0001c0022t0002g0100	13	358	0.0363	104	c.186 others(123): Show c.186+10991_186+10992insTCCTCCCGCAATCCCAGCCATGCAGC CTCAGCCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCAGCCATGCAGCCTCAGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694168	C C	CCCCTCCT others(97): Show CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGC CTCCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0236 a0001c0001t0002g0236	1	358	0.0028	104	c.186 others(123): Show c.186+10991_186+10992insTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCC CGCAATCCCACCCATGCAGCCTCCGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694168	C C	CCCCTCCT others(97): Show CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCCTGCAA TCCCAGCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCATGCAGC CTCCG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0322	1	358	0.0028	104	c.186 others(123): Show c.186+10991_186+10992insTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCCGCCCCTCCTCC CGCAATCCCACCCATGCAGCCTCCGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694310	C C	CCCCTCCT others(97): Show CCCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCTCCTCCTCCCGCAA TCCCAGCCCTGCAGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGC CTCAG	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0155 a0001c0003t0006g0155	1	358	0.0028	104	c.186 others(123): Show c.186+11133_186+11134insTCCTCCCGCAATCCCAGCCCTGCAGC CTCAGCTCCTCCTCCCGCAATCCCAGCCCTGCAGCCTCAGCCCCTCCTCC CGCAATCCCACCCATGCAGCCTCAGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3694519	A A	AGCCCTCC others(97): Show AGCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCCGCA ATCCCACCCATGCAGCCTCCGCCCCTCCTCCCGCAATCCCACCCATGCAG CCTCC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0329 a0001c0001t0002g0329	1	358	0.0028	104	c.186 others(123): Show c.186+11343_186+11344insTCCTCCTGCAATCCCAGCCATGCAGC CTCAGCCCCTCCTCCCGCAATCCCACCCATGCAGCCTCCGCCCCTCCTCC CGCAATCCCACCCATGCAGCCTCCGCCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPO_chr2_1408463_1548673	1537763	C C	CTCTGTGC others(97): Show CTCTGTGCAGCCTCCCAAAATCCCAACTCTGCGCAAACTCCGCCTATCCC CCCCAGTGTGCAACCCCCCAAATCCAACACTGTGCAACCTCCCCAAATCC CATTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18962.hp2 NA19088.hp1 HG02602.hp2 NA18962.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0006 a0002c0002t0003 a0002c0002t0006	a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027 a0002c0002t0003g0074 a0002c0002t0003g0095 a0002c0002t0006g0027	3	130	0.0231	104	c.261 others(123): Show c.2619-2830_2619-2829insCTGTGCAGCCTCCCAAAATCCCAACT CTGCGCAAACTCCGCCTATCCCCCCCAGTGTGCAACCCCCCAAATCCAAC ACTGTGCAACCTCCCCAAATCCCATTGT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPR_chr1_186306652_186380253	186327266	A A	ATATATTT others(97): Show ATATATTTATATATATAATATATAAAAATATATAATATATATTTATATAT ATAATATATATAAATATATAATATATATATTTATATATAATATATATAAA TATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG03927.hp2 NA18747.hp2 others(1): Show HG02027.hp2 HG03927.hp2 NA18747.hp2 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0075 a0001c0001t0002g0122 a0001c0001t0002g0037 a0001c0001t0002g0075 a0001c0001t0002g0122	4	408	0.0098	104	c.588 others(121): Show c.5889+193_5889+194insATATATTTATATATATTATATATAAATA TATATATTATATATTTATATATATTATATATATAAATATATATTATATAT TTTTATATATTATATATATAAATATA	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TPR_chr1_186306652_186380253	186327266	A A	ATATTTAT others(97): Show ATATTTATATATATAATATATATAAATATATAATATATATATTTATATAT AAATATATATAAATATATTATATATTTATATATAAATATATATATATAAA TATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	408	0.0025	104	c.588 others(121): Show c.5889+193_5889+194insATATATTTATATATATATATTTATATAT AAATATATAATATATTTATATATATTTATATATAAATATATATATTATAT ATTTATATATATTATATATATAAATA	TPR	ENSG00000047410.14	transcript	ENST00000367478.9	protein_coding	40/50			chr1	TogoVar
TRAPPC9_chr8_139722725_140462744	140156951	A A	AAAGCCTC others(97): Show AAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTC CCTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	98	0.0102	104	c.255 others(125): Show c.2556+64507_2556+64508insCTGAATGGAAAAGGGAGGCTTTTG AATGGAAAAGGGAGGCTTTTGAATGGAAAGGGAGGCTTTTGAATGGAAAA GGGAGGCTTTTGAATGGAAAAGGGAGGCTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRAPPC9_chr8_139722725_140462744	140157075	A A	AAAGCCTC others(97): Show AAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTCCATTCAAAAGCCTCC CTTTTCCATTCAAAAGCCTCCCTTTTCCATTCAAAAGCCTCCCTTTTCCA TTCAG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0024 a0001c0006t0006g0024	1	98	0.0102	104	c.255 others(125): Show c.2556+64383_2556+64384insCTGAATGGAAAAGGGAGGCTTTTG AATGGAAAAGGGAGGCTTTTGAATGGAAAAGGGAGGCTTTTGAATGGAAA GGGAGGCTTTTGAATGGAAAAGGGAGGCTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRERF1_chr6_42219931_42456926	42277905	G G	GAGGAAGA others(97): Show GAGGAAGAGGAAGAGGAAGAGGAAGAAGAGGAAGAAGAGGAAGAAGAAGA AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01255.hp1 HG02895.hp1 HG00741.hp1 HG01255.hp1 HG02895.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0039 a0001c0001 a0004c0039	a0001c0001t0001 a0001c0001t0004 a0004c0039t0022 a0001c0001t0001 a0001c0001t0004 a0004c0039t0022	a0001c0001t0001g0141 a0001c0001t0004g0162 a0004c0039t0022g0088 a0001c0001t0001g0141 a0001c0001t0004g0162 a0004c0039t0022g0088	3	180	0.0167	104	c.-25 others(123): Show c.-258-8058_-258-8057insTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCCTCTTCTTCC TCTTCTTCCTCTTCCTCTTCCTCTTCCT	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	4/17			chr6	TogoVar
TRIM13_chr13_49992042_50023467	49996929	G G	GGGAGGGG others(97): Show GGGAGGGGGAGGGGAAAGGGAGGGGGAGGGGAGGGGAAAGGGAGGGGGAG GGGAGGGAAAGGGAGGGGAGGGGGAAGGGACGGGAGGGGAGGGGGAAGGA CGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0325 a0001c0001t0325	a0001c0001t0325g0053 a0001c0001t0325g0053	1	390	0.0026	104	c.-84 others(113): Show c.-841_-840insGGAGGGGGAGGGGAAAGGGAGGGGGAGGGGAGGGGA AAGGGAGGGGGAGGGGAGGGAAAGGGAGGGGAGGGGGAAGGGACGGGAGG GGAGGGGGAAGGACGGGA	TRIM13	ENSG00000204977.10	transcript	ENST00000378182.4	protein_coding		112		chr13	TogoVar
TRIM48_chr11_55257155_55276114	55273206	A A	ATATATAT others(97): Show ATATATATAAAAATTATATATATATTATATATATATAAATTATATATATA TTATATATATATATAAATTATATATATATTATATATATAAAAATTATATA TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	272	0.0037	104	c.27 others(115): Show c.2771_*2772insTATATATAAAAATTATATATATATTATATATATA TAAATTATATATATATTATATATATATATAAATTATATATATATTATATA TATAAAAATTATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2093		chr11	TogoVar
TRPC1_chr3_142719034_142812888	142784320	T T	TTAATACT others(97): Show TTAATACTTATAGTTAATATAAGTATTATATTATATATATATATATATAA CTTATAACTATAAGTTAATATAGTTAATATAATAGTTAATACTTATAATA CTCTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01109.hp1 others(24): Show HG00642.hp1 HG00735.hp2 HG01109.hp1 HG01175.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG06807.hp1 NA18906.hp1 NA19009.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0006 a0001c0003t0001 a0001c0003t0006	a0001c0003t0001g0240 a0001c0003t0001g0242 a0001c0003t0001g0254 others(22): Show a0001c0003t0001g0240 a0001c0003t0001g0242 a0001c0003t0001g0254 a0001c0003t0001g0257 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0003t0001g0261 a0001c0003t0001g0262 a0001c0003t0001g0263 a0001c0003t0006g0014 a0001c0003t0006g0015 a0001c0003t0006g0237 a0001c0003t0006g0238 a0001c0003t0006g0239 a0001c0003t0006g0243 a0001c0003t0006g0245 a0001c0003t0006g0246 a0001c0003t0006g0247 a0001c0003t0006g0248 a0001c0003t0006g0249 a0001c0003t0006g0250 a0001c0003t0006g0253 a0001c0003t0006g0255 a0001c0003t0006g0256	27	340	0.0794	104	c.961 others(119): Show c.961-372_961-371insTTAATATAAGTATTATATTATATATATATA TATATAACTTATAACTATAAGTTAATATAGTTAATATAATAGTTAATACT TATAATACTCTATAATACTTATAG	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRPC4AP_chr20_34997404_35097807	35097473	A A	ACATATAC others(97): Show ACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 NA20752.hp2 HG01346.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0233 a0001c0001t0003g0235 a0001c0001t0003g0233 a0001c0001t0003g0235	2	334	0.0060	104	c.-46 others(115): Show c.-4693_-4692insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATG	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4667		chr20	TogoVar
TRPC6_chr11_101446564_101589007	101558204	T T	TGTATACA others(97): Show TGTATACATGTATACATGTATATATGTATACATGTATATGGGTATACATG TATATATGTATACATGTATATGGGTATACATGTATATATGTATACATGTA TATGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19043.hp1 HG01346.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0002 a0001c0013t0014 a0001c0002t0002 a0001c0013t0014	a0001c0002t0002g0007 a0001c0013t0014g0104 a0001c0002t0002g0007 a0001c0013t0014g0104	2	252	0.0079	104	c.170 others(123): Show c.170+25129_170+25130insCCATATACATGTATACATATATACAT GTATACCCATATACATGTATACATATATACATGTATACCCATATACATGT ATACATATATACATGTATACATGTATAC	TRPC6	ENSG00000137672.13	transcript	ENST00000344327.8	protein_coding	1/12			chr11	TogoVar
TSNARE1_chr8_142207080_142408182	142227040	G G	GTGACAGC others(97): Show GTGACAGCCAGGACCTCCACTGTGCCCACACCCCAGTGACAGTGAGGACC TCCACTGCATCCACAACCCTAGTGACAGCCAGGCCCTACATCCTGCCCAC AATCA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0092 a0004c0004t0001g0092	1	238	0.0042	104	c.11 others(121): Show c.11+2432_*11+2433insTGATTGTGGGCAGGATGTAGGGCCTGGC TGTCACTAGGGTTGTGGATGCAGTGGAGGTCCTCACTGTCACTGGGGTGT GGGCACAGTGGAGGTCCTGGCTGTCA	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	13/13			chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(97): Show CACCACACCCTACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA20129.hp1 HG03471.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0235 a0001c0001t0002g0232 a0001c0001t0001g0235 a0001c0001t0002g0232	2	338	0.0059	104	c.35 others(123): Show c.35+21583_*35+21584insACCACACCCTACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACCCCACACACACCACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870545	A A	ACACACAC others(97): Show ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCCA CACACACCACACCCCACACACACCACACCCCATACACACCACACCCCACA CACAC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	338	0.0030	104	c.35 others(123): Show c.35+21817_*35+21818insACCACACCCCATACACACCACACCCC ACACACACCACACCCCCACACACACCACACCCCACACACACCACACCCCA TACACACCACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870635	C C	CCACACAC others(97): Show CCACACACACCACACACACCACACACCCCACACACACCACACCCATACAC ACCACACCCCACACACACCACACACCCCACACACACCACACACACACATC ACATA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	338	0.0030	104	c.35 others(123): Show c.35+21903_*35+21904insACACACACCACACACACCACACACCC CACACACACCACACCCATACACACCACACCCCACACACACCACACACCCC ACACACACCACACACACACATCACATAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBC_chr12_124906646_124919650	124907752	A A	AATATATG others(97): Show AATATATGAATATATATATGAATATATATATATGAATATATGAATATATA TATATGAATATATGAATATATATATGAATATATATATATGAATATATGAA TATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0005 a0001c0005t0002g0005	1	446	0.0022	104	c.39 others(115): Show c.3961_*3962insATATATTCATATATTCATATATATATATTCATAT ATATATTCATATATTCATATATATATATTCATATATTCATATATATATAT TCATATATATATTCATATAT	UBC	ENSG00000150991.16	transcript	ENST00000339647.6	protein_coding		3893		chr12	TogoVar
UBE2B_chr5_134366569_134397108	134376352	T T	TATATATA others(97): Show TATATATATGTATATATATATATATATATATGTATATATATATATATATA TATATATATACATATATATATATATATACATATATATATATATATATATA TATAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	282	0.0036	104	c.126 others(119): Show c.126-309_126-308insGTATATATATATATATATATATGTATATAT ATATATATATATATATATATACATATATATATATATATACATATATATAT ATATATATATATATACATATATAT	UBE2B	ENSG00000119048.9	transcript	ENST00000265339.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
UBE3A_chr15_25328728_25444024	25367275	A A	ACATATTT others(97): Show ACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATGTAAATAT TTACATATTTGTAAATATGTAAATATTTACATATTTGTAAATATGTAAAT ATTTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA19030.hp2 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0106 a0001c0001t0002g0108	2	298	0.0067	104	c.160 others(123): Show c.1608+3290_1608+3291insCAAATATTTACATATTTACAAATATG TAAATATTTACATATTTACAAATATGTAAATATTTACATATTTACAAATA TGTAAATATTTACATATTTACAAATATG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	6/12			chr15	TogoVar
UBE4A_chr11_118354600_118404211	118355526	C C	CATGTATA others(97): Show CATGTATATATACACATATGTATATATACACATATACACATATGTATATA TACACATATGTATATATACACATATACACATATGTATATATACACATATA CACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	320	0.0031	104	c.-41 others(115): Show c.-4190_-4189insATGTATATATACACATATGTATATATACACATAT ACACATATGTATATATACACATATGTATATATACACATATACACATATGT ATATATACACATATACACAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		4073		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(97): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18995.hp2 NA19006.hp2 NA18992.hp2 NA18995.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0023 a0001c0001t0001g0184 a0001c0001t0001g0185	3	320	0.0094	104	c.-38 others(115): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(97): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19087.hp2 NA19002.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0196 a0001c0001t0001g0023 a0001c0001t0001g0196	2	320	0.0063	104	c.-38 others(115): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(97): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0133 a0001c0005t0001g0133	1	320	0.0031	104	c.-38 others(115): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
ULK1_chr12_131889622_131928150	131917251	G G	GGAGGCTG others(97): Show GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0004 a0002c0008t0004	a0002c0008t0004g0025 a0002c0008t0004g0025	1	344	0.0029	104	c.218 others(121): Show c.2183-148_2183-147insTGGGGCTCGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917283	G G	GGAGGCTG others(97): Show GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0027 a0002c0004t0004g0027	1	344	0.0029	104	c.218 others(121): Show c.2183-116_2183-115insTGGGGCTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCT GTGGGATGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UMAD1_chr7_7635752_7884223	7678699	T T	TATATTTA others(97): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA AATATATATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTT TATAA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0039 a0001c0001t0007g0039	1	250	0.0040	104	c.82+ others(119): Show c.82+5281_82+5282insGTATTTAGTTTATAAATATATATTTATGTA TTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAATATTTATATA TTTAGTTTATAAATATATATTTAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678753	T T	TATATTTA others(97): Show TATATTTATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATA AATATATATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTT TATAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0080 a0001c0001t0012g0080	1	250	0.0040	104	c.82+ others(119): Show c.82+5329_82+5330insATTTATGTATTTAGTTTATAAATATATATT TATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAATATT TATATATTTAGTTTATAAATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC13A_chr19_17596336_17693354	17631180	T T	TCCCTCCC others(97): Show TCCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCCT CCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCC CTCCC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	320	0.0031	104	c.342 others(121): Show c.3429-431_3429-430insGGGAGGGAGGGAGGGAAGGAGGGAGGGA GGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAAGGGAGGGAGGGAGGGAGGG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UPK3A_chr22_45279949_45300874	45282130	A A	AGAAGGAA others(97): Show AGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGAAGGA AGGTAGAAAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAAGAAAGAGA GGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG02965.hp2 HG03516.hp2 others(4): Show HG01433.hp1 HG02965.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0089 others(2): Show a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091	7	444	0.0158	104	c.-28 others(115): Show c.-2884_-2883insGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAA GAAAGGAAGGAAGGAAGGTAGAAAGAAAGAAAGAAAGAAAGAAAGACAAA GAAAGAAGAAAGAGAGGAAG	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2818		chr22	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(97): Show TAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAAGAAAGAGAGGAAGGA AGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGAAGGAAGGAAGGTAGA AAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG01891.hp1 HG02572.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0042 a0001c0007t0002g0042	2	444	0.0045	104	c.-28 others(115): Show c.-2831_-2830insAGAAAGAAAGAAAGAAAGAAAGACAAAGAAAGAA GAAAGAGAGGAAGGAAGGAAGGAGAAAGAAAGAAGGAAGGAAAGAAAGGA AGGAAGGAAGGTAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
USP25_chr21_15724982_15885064	15762129	T T	TAAAAAAG others(97): Show TAAAAAAGATTTCACCAGCATGGCACATGTATACATATGTAACTAACCTG CACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAA AAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18946.hp2 NA18985.hp1 others(2): Show HG00609.hp1 NA18946.hp2 NA18985.hp1 NA19057.hp2 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0073 a0001c0003t0001g0081 a0001c0003t0001g0082 others(2): Show a0001c0003t0001g0073 a0001c0003t0001g0081 a0001c0003t0001g0082 a0001c0003t0001g0084 a0001c0003t0001g0086	5	200	0.0250	104	c.46- others(117): Show c.46-749_46-748insCCAGCATGGCACATGTATACATATGTAACTAA CCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAAAAAAAAAGATTTCA	USP25	ENSG00000155313.16	transcript	ENST00000400183.7	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr21	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(97): Show ATATATATACATATATATATATACATATATATATATATACATATATATAT ATATACATATATATATATATACATATATATATATATATATATATATATAT TTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18952.hp2 NA18962.hp2 others(2): Show NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18985.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0011g0041	5	396	0.0126	104	c.84- others(119): Show c.84-1281_84-1280insATATATACATATATATATATACATATATAT ATATATACATATATATATATATACATATATATATATATACATATATATAT ATATATATATATATATATTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(97): Show ATATATATACATATATATATATACATATATATATATATACATATATATAT ATATACATATATATATATATACATATATATATATATATATATATATATTT TTTTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	396	0.0025	104	c.84- others(119): Show c.84-1281_84-1280insATATATACATATATATATATACATATATAT ATATATACATATATATATATATACATATATATATATATACATATATATAT ATATATATATATATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(97): Show ATATATATACATATATATATATACATATATATATATATACATATATATAT ATATACATATATATATATATACGTATATATATATATATATATATATATAT TTTTT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	396	0.0025	104	c.84- others(119): Show c.84-1281_84-1280insATATATACATATATATATATACATATATAT ATATATACATATATATATATATACATATATATATATATACGTATATATAT ATATATATATATATATATTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(97): Show ATATATATATACATATATATATATACATATATATATATACATATATATAT ATATACATATATATATATATACATATATATATATATATATATATATATTT TTTTT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	396	0.0025	104	c.84- others(119): Show c.84-1281_84-1280insATATATATACATATATATATATACATATAT ATATATACATATATATATATATACATATATATATATATACATATATATAT ATATATATATATATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(97): Show ATATATATATACATATATATATATACATATATATATATATACATATATAT ATATATACATATATATATATACATATATATATATATATATATATATATTT TTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	396	0.0025	104	c.84- others(119): Show c.84-1281_84-1280insATATATATACATATATATATATACATATAT ATATATATACATATATATATATATACATATATATATATACATATATATAT ATATATATATATATATTTTTTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
USP30_chr12_109047576_109093023	109055400	A A	ATATATAT others(97): Show ATATATATATATACATATATATATATACATATATATATATACATATATAT ATATATACATATATATATATACATATATATATATATATATATATATATAT ATTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	396	0.0025	104	c.84- others(119): Show c.84-1281_84-1280insATATATATATACATATATATATATACATAT ATATATATACATATATATATATATACATATATATATATACATATATATAT ATATATATATATATATATATTTTT	USP30	ENSG00000135093.13	transcript	ENST00000257548.10	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar

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