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
TMPRSS2_chr21_41459305_41513158	41474494	A A	AGTGAGGA others(293): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG G	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0281 a0002c0005t0001g0281	1	382	0.0026	300	c.728 others(315): Show c.728-999_728-998insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMTC2_chr12_82681906_83139866	82876075	A A	ATGATGGT others(293): Show ATGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTAT TAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTAT TAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG GTGATGGTGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTAT TAGTAATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATG G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	96	0.0104	300	c.654 others(319): Show c.654+18575_654+18576insGGTGGTGGTGGTGGTGATGGTGATGG TGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGG TGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAAT GGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGATGG TGATTAGTATTCATAATGGTGGTGGTGGTGGTGGTGGTGGTATTAGTAAT GGTGGTGGTGGTGGTGGTGGTGGT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNPO3_chr7_128949185_129060111	129059138	T T	TATTTTTA others(293): Show TATTTTTAAAAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0182 a0001c0003t0002g0182	1	338	0.0030	300	c.-43 others(311): Show c.-4369_-4368insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAGAACTTTTAAAAAT	TNPO3	ENSG00000064419.14	transcript	ENST00000265388.10	protein_coding		4028		chr7	TogoVar
TNS1_chr2_217794791_218007995	217809548	G G	GATGGATG others(293): Show GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGA TGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGATGCATG CATGGATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGA TGGATGGATGGATGGATGCATGGATGGATGGATGGATAGGTGCATGGATG GATGCATGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGA TGGATGGATGGATGGGTGCATGGATGGATGGATGGACGGATGGATGGGTG C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG03041.hp2 HG02258.hp2 HG02486.hp2 HG03041.hp2	a0006 a0017 a0006 a0017	a0006c0099 a0017c0026 a0006c0099 a0017c0026	a0006c0099t0113 a0017c0026t0031 a0006c0099t0113 a0017c0026t0031	a0006c0099t0113g0243 a0017c0026t0031g0218 a0017c0026t0031g0219 a0006c0099t0113g0243 a0017c0026t0031g0218 a0017c0026t0031g0219	3	244	0.0123	300	c.527 others(317): Show c.5273+274_5273+275insGCACCCATCCATCCGTCCATCCATCCAT CCATGCACCCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCC ATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCCATCC ATGCACCTATCCATCCATCCATGCATGCATCCATCCATCCATCCATCCAT GCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCACCTATCCATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TNS1_chr2_217794791_218007995	217809552	G G	GATGGATA others(293): Show GATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGATGGA TAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGATGCATGCATG GATGGATGGATAGGTGCATGGATGGATGCATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGCATGGATGGATGGATGGATAGGTGCATGGATG GATGCATGGATGGATGGATGGATGGATGGATGGATAGGTGCATGGATGGA TGGATGGATGGATGGGTGCATGGATGGATGGATGGACGGATGGATGGGTG C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0040 a0040	a0040c0104 a0040c0104	a0040c0104t0012 a0040c0104t0012	a0040c0104t0012g0159 a0040c0104t0012g0159	1	244	0.0041	300	c.527 others(317): Show c.5273+270_5273+271insGCACCCATCCATCCGTCCATCCATCCAT CCATGCACCCATCCATCCATCCATCCATCCATGCACCTATCCATCCATCC ATCCATCCATCCATCCATGCATCCATCCATGCACCTATCCATCCATCCAT CCATGCATCCATCCATCCATCCATCCATCCATCCATCCATCCATGCATCC ATCCATGCACCTATCCATCCATCCATGCATGCATCCATCCATCCATCCAT CCATGCATCCATCCATGCACCTATCCATCCATCCATCCATCCATCCATGC ATCCATCCATGCACCTATCCAT	TNS1	ENSG00000079308.21	transcript	ENST00000682258.1	protein_coding	30/32			chr2	TogoVar
TPO_chr2_1408463_1548673	1489999	C C	CAGTGTAA others(293): Show CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA TAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA T	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02004.hp1 HG01975.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0001g0080 a0001c0001t0001g0094	2	130	0.0154	300	c.176 others(319): Show c.1768+2048_1768+2049insACGACACAATAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAATAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490033	G G	GGGAGTCA others(293): Show GGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02273.hp2 HG01934.hp1 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0078 a0001c0001t0002g0039 a0001c0001t0002g0078	2	130	0.0154	300	c.176 others(319): Show c.1768+2048_1768+2049insACGACACAATAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGAGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGTGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAGCAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGGGGAGTCACGACACAATAGTGTAAGAGCCGCCA CGAGGGTCCCACACAGGAGGAGTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490040	G G	GCGACACA others(293): Show GCGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTC ACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTC A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	130	0.0077	300	c.176 others(319): Show c.1768+2176_1768+2177insAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGTGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490083	G G	GGGAGTCA others(293): Show GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG AGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG GGGAGTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGG A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0007 a0007	a0007c0021 a0007c0021	a0007c0021t0004 a0007c0021t0004	a0007c0021t0004g0031 a0007c0021t0004g0031	1	130	0.0077	300	c.176 others(319): Show c.1768+2176_1768+2177insAGGGTCCCACACAGGGGGAGTCACGA CACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGA CACAGCAGTGTAAGAGCCGCCACG	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1490399	C C	CAGTGTAA others(293): Show CAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGAGTCATGACACAG CAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGAGTCATGACACAG CAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGAGTCATGACACAG CAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA TAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0005 a0019c0024t0005	a0019c0024t0005g0009 a0019c0024t0005g0009	1	130	0.0077	300	c.176 others(319): Show c.1768+2419_1768+2420insTGCCACGAGGGTCCCACACAGGGGGA GTCATGACACAGCAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGA GTCATGACACAGCAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGA GTCATGACACAGCAGTGTAAGAGCTGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAATAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAATAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF7_chr16_2150782_2183129	2160538	A A	AGGCGGTG others(293): Show AGGCGGTGTGGATGGGCGGGCGGTGTGGGTGGGCGGGCGGTGTGGGTGGG CGGGCGGTGTGGGTGGGCGGGAGGTGCTCGGGCAGGCGGTGTGGATGGGC GGGCGGTGTGGATGGGCGGGCGGTGTGGGTGGGCGGGCGGTGTGGGTGGG CGGGCGGTGTGGGTGGGCGGGAGGTGCTCGGGCAGGCGGTGTGGATGGGC GGGCGGTGTGGATGGGCAGGCGGTGTGGATGGGCGGGCGGTGTGGGTGGG CGGGCGGTGTGGGTGGGCGGGAGGTGCTCGGGCAGGCGGTGTGGATGGGC G	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	320	0.0031	300	c.-38 others(317): Show c.-38-3304_-38-3303insTGGGTGGGCGGGCGGTGTGGGTGGGCGG GAGGTGCTCGGGCAGGCGGTGTGGATGGGCGGGCGGTGTGGATGGGCGGG CGGTGTGGGTGGGCGGGCGGTGTGGGTGGGCGGGCGGTGTGGGTGGGCGG GAGGTGCTCGGGCAGGCGGTGTGGATGGGCGGGCGGTGTGGATGGGCAGG CGGTGTGGATGGGCGGGCGGTGTGGGTGGGCGGGCGGTGTGGGTGGGCGG GAGGTGCTCGGGCAGGCGGTGTGGATGGGCGGGCGGTGTGGATGGGCGGG CGGTGTGGGTGGGCGGGCGGTG	TRAF7	ENSG00000131653.14	transcript	ENST00000326181.11	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
TRIM58_chr1_247852187_247885138	247870342	G G	GCCCAGAA others(293): Show GCCCAGAAGAACAAGGATTAGTATATTCATGAGCAGTATCAGAGTCATGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC ACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01993.hp2 HG02004.hp1 others(2): Show HG01255.hp2 HG01993.hp2 HG02004.hp1 HG02273.hp2 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0063 a0002c0003t0006g0273 a0002c0003t0006g0277 others(1): Show a0002c0003t0006g0063 a0002c0003t0006g0273 a0002c0003t0006g0277 a0002c0003t0006g0280	5	454	0.0110	300	c.871 others(317): Show c.871+2290_871+2291insAAGGATTAGTATATTCATGAGCAGTATC AGAGTCATGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAG GATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCT GCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATC AGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAG GATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCT GCACCACCACACCCAGAAGAAC	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870376	A A	AGTATCAG others(293): Show AGTATCAGAGTCATGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCATGGCCACCCATA GAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGC C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0052 a0001c0008t0052	a0001c0008t0052g0137 a0001c0008t0052g0137	1	454	0.0022	300	c.871 others(317): Show c.871+2325_871+2326insTGGCCACCCATAGAGCCTGCACCACCAT GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCATGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870389	C C	TGGCCACC others(293): Show TGGCCACCCATAGAGCCTGCACCACCATGCCCAGAAGAACGAGGATTAGT ATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCAC CACACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCA CGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGT ATATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCAC CACACCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCA C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0012 a0012	a0012c0035 a0012c0035	a0012c0035t0008 a0012c0035t0008	a0012c0035t0008g0036 a0012c0035t0008g0036	1	454	0.0022	300	c.871 others(317): Show c.871+2325_871+2326insTGGCCACCCATAGAGCCTGCACCACCAT GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATA TTCATGAGCCGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5			chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870416	C C	TGCCCAGA others(293): Show TGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACG GCCACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTAT ATTCATGAGCCGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCA CACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACG GCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTAT ATTCATGAGCAGTATCAGAGTCACAGCCACCCACAGAGCCTGCACCACCA C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01123.hp1 HG00140.hp2 HG01123.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0048 a0003c0002t0002 a0003c0002t0048	a0003c0002t0002g0113 a0003c0002t0048g0150 a0003c0002t0002g0113 a0003c0002t0048g0150	2	454	0.0044	300	c.871 others(317): Show c.871+2352_871+2353insTGCCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACAC CCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCC ACCCATAGAGCCTGCACCACCACACCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACAGCC ACCCACAGAGCCTGCACCACCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5			chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870751	A A	AGTATCAG others(293): Show AGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0013 a0002c0015t0013	a0002c0015t0013g0199 a0002c0015t0013g0199	1	454	0.0022	300	c.871 others(317): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870773	G G	GTAGAGCC others(293): Show GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCC A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02572.hp2 HG02809.hp1 others(3): Show HG00741.hp1 HG02572.hp2 HG02809.hp1 HG03195.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0017 a0002c0015 a0001c0017 a0002c0015	a0001c0017t0013 a0002c0015t0013 a0001c0017t0013 a0002c0015t0013	a0001c0017t0013g0049 a0001c0017t0013g0197 a0001c0017t0013g0200 others(2): Show a0001c0017t0013g0049 a0001c0017t0013g0197 a0001c0017t0013g0200 a0002c0015t0013g0198 a0002c0015t0013g0205	6	454	0.0132	300	c.871 others(317): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCGGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870773	G G	GTAGAGCC others(293): Show GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGGCCACCC GTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATG AGCGGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCACGCCCAG AAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACCC A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03098.hp1 HG02717.hp1 HG03098.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0040 a0001c0008t0008 a0001c0008t0040	a0001c0008t0008g0036 a0001c0008t0040g0228 a0001c0008t0008g0036 a0001c0008t0040g0228	2	454	0.0044	300	c.871 others(317): Show c.871+2775_871+2776insCGGCCACCCGTAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCGGTATCAGAGTCACGG CCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCGGTATCAGAGTCACGGCCACCCATAGAGCCTGCACCACCAC GCCCAGAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGG CCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATA TTCATGAGCAGTATCAGAGTCA	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870901	C C	CGTATCAG others(293): Show CGTATCAGAGTCACGACCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02559.hp1 HG02970.hp2 others(1): Show HG00733.hp2 HG02559.hp1 HG02970.hp2 HG02976.hp1	a0004 a0009 a0004 a0009	a0004c0004 a0009c0020 a0004c0004 a0009c0020	a0004c0004t0003 a0009c0020t0003 a0004c0004t0003 a0009c0020t0003	a0004c0004t0003g0016 a0004c0004t0003g0131 a0009c0020t0003g0016 a0004c0004t0003g0016 a0004c0004t0003g0131 a0009c0020t0003g0016	4	454	0.0088	300	c.871 others(317): Show c.871+2852_871+2853insACCACCCGTAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCC ACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATT CATGAGCCGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGC CCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCC ACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATT CATGAGCAGTATCAGAGTCACG	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM58_chr1_247852187_247885138	247870922	C C	CGTAGAGC others(293): Show CGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCAT GAGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCA GAAGAACGAGGATTAGTATATTCATGAGCCGTATCAGAGTCACGGCCACC CGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCAT GAGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCA GAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACC T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG01943.hp1 others(12): Show HG00099.hp2 HG00323.hp1 HG01943.hp1 HG02027.hp1 HG02109.hp2 HG03491.hp2 HG03492.hp1 HG03831.hp2 HG06807.hp1 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA18993.hp1 NA19003.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0007	a0002c0003 a0003c0021 a0004c0004 others(2): Show a0002c0003 a0003c0021 a0004c0004 a0004c0030 a0007c0024	a0002c0003t0031 a0003c0021t0001 a0004c0004t0003 others(3): Show a0002c0003t0031 a0003c0021t0001 a0004c0004t0003 a0004c0004t0005 a0004c0030t0071 a0007c0024t0070	a0002c0003t0031g0307 a0003c0021t0001g0095 a0004c0004t0003g0030 others(9): Show a0002c0003t0031g0307 a0003c0021t0001g0095 a0004c0004t0003g0030 a0004c0004t0003g0033 a0004c0004t0003g0041 a0004c0004t0003g0062 a0004c0004t0003g0089 a0004c0004t0003g0161 a0004c0004t0003g0269 a0004c0004t0005g0156 a0004c0030t0071g0030 a0007c0024t0070g0287	15	454	0.0330	300	c.871 others(317): Show c.871+2859_871+2860insGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC CGTATCAGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAG AACGAGGATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTA GAGCCTGCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGC AGTATCAGAGTCACGGCCACCT	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5			chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028975	C C	CCCCACAC others(293): Show CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCATCCTGAAG A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02055.hp2 HG01255.hp1 HG02055.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0011 a0002c0002 a0013c0011	a0002c0002t0002 a0013c0011t0002 a0002c0002t0002 a0013c0011t0002	a0002c0002t0002g0136 a0013c0011t0002g0057 a0002c0002t0002g0136 a0013c0011t0002g0057	2	224	0.0089	300	c.225 others(319): Show c.2251+1454_2251+1455insTCTTCAGGATGGTGTGATGGGGTCTT TACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGG GTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTT CAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TTN_chr2_178520989_178812423	178757146	A A	ATGCTTTA others(293): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG02809.hp1 HG01071.hp2 HG02809.hp1	a0126 a0128 a0126 a0128	a0126c0051 a0128c0144 a0126c0051 a0128c0144	a0126c0051t0002 a0128c0144t0001 a0126c0051t0002 a0128c0144t0001	a0126c0051t0002g0123 a0128c0144t0001g0095 a0126c0051t0002g0123 a0128c0144t0001g0095	2	242	0.0083	300	c.106 others(319): Show c.10679-350_10679-349insAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTA CTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACA GTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAA AGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTA CTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACA GTATTACTTACTGTACTTAAAGCA	TTN	ENSG00000155657.29	transcript	ENST00000589042.5	protein_coding	45/362			chr2	TogoVar
TTN_chr2_178739405_178812423	178757146	A A	ATGCTTTA others(293): Show ATGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC TTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGT AATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTACTTGCTTTAAG TACAGTAAGTAATACTGTACTTGCTTTAAGTACAGTAAGTAATACTGTAC T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01243.hp1 HG01256.hp1 others(6): Show HG01071.hp1 HG01243.hp1 HG01256.hp1 HG01891.hp1 HG02129.hp1 HG02809.hp2 HG06807.hp2 NA18963.hp1 NA19086.hp1	a0001 a0004 a0054 others(2): Show a0001 a0004 a0054 a0058 a0059	a0001c0002 a0001c0003 a0004c0011 others(3): Show a0001c0002 a0001c0003 a0004c0011 a0054c0038 a0058c0040 a0059c0071	a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0004c0011t0001 a0054c0038t0001 a0058c0040t0001 a0059c0071t0001	a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0196 others(6): Show a0001c0002t0001g0164 a0001c0002t0001g0177 a0001c0002t0001g0196 a0001c0002t0002g0187 a0001c0003t0004g0289 a0004c0011t0001g0136 a0054c0038t0001g0174 a0058c0040t0001g0181 a0059c0071t0001g0137	9	370	0.0243	300	c.103 others(321): Show c.10303+1837_10303+1838insAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTT AAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTACAGTATTACT TACTGTACTTAAAGCAAGTACAGTATTACTTACTGTACTTAAAGCAAGTA CAGTATTACTTACTGTACTTAAAGCA	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TTN_chr2_178739405_178812423	178757187	A A	ACAGTAAG others(293): Show ACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTAATACTGTACT TACTTTAAGTACAGTAAGTAATACTGTACTTACTTTAAGTACAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT GCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACT TACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGTGCAGTAAGTA ATACTGTACTTACTTTAAGTGCAGTAAGTAATACTGTACTTACTTTAAGT G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0031 a0031	a0031c0092 a0031c0092	a0031c0092t0003 a0031c0092t0003	a0031c0092t0003g0110 a0031c0092t0003g0110	1	370	0.0027	300	c.103 others(321): Show c.10303+1796_10303+1797insCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGT ACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTACTTACTGCACT TAAAGTAAGTACAGTATTACTTACTGCACTTAAAGTAAGTACAGTATTAC TTACTGCACTTAAAGTAAGTACAGTATTACTTACTGTACTTAAAGTAAGT ACAGTATTACTTACTGTACTTAAAGTAAGTACAGTATTACTTACTGTACT TAAAGTAAGTACAGTATTACTTACTG	TTN	ENSG00000155657.29	transcript	ENST00000360870.10	protein_coding	44/45			chr2	TogoVar
TUBGCP5_chr15_22994177_23044569	23042106	C C	CTGGGGGT others(293): Show CTGGGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGCCGGGGGGGATT TCATAACCCCACCTGGCCAGGGGTGCTGGGGGGACATCATAACCTCACCT GGCCAGAGGTGCTGGGGGGTATCACAATCTGACCTGGCCAGAGATGCTGG GGGGACATCATAACCCCACCTGGCCAGAGGTGCTGTGGGGCCATCATAAC CCCAGCTGGCCGGAGGTGCTGGGGGCTGGGGGAACTTCTTAACCCCACCT GGCCAGAGGTGCTGAGGGTGACTTCATAAATGTCACCTGGCCAGAGGTGC T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG02015.hp1 others(18): Show HG00423.hp1 HG00558.hp1 HG02015.hp1 HG02027.hp2 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 NA18612.hp2 NA18952.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA19005.hp2 NA19064.hp2 NA19065.hp1 NA19067.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0012 a0001c0002 a0005c0012	a0001c0002t0002 a0005c0012t0002 a0001c0002t0002 a0005c0012t0002	a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 others(16): Show a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0074 a0001c0002t0002g0080 a0001c0002t0002g0091 a0001c0002t0002g0094 a0001c0002t0002g0099 a0001c0002t0002g0103 a0001c0002t0002g0107 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0005c0012t0002g0102	21	351	0.0598	300	c.-25 others(311): Show c.-2564_-2563insAGCACCTCTGGCCAGGTGACATTTATGAAGTCAC CCTCAGCACCTCTGGCCAGGTGGGGTTAAGAAGTTCCCCCAGCCCCCAGC ACCTCCGGCCAGCTGGGGTTATGATGGCCCCACAGCACCTCTGGCCAGGT GGGGTTATGATGTCCCCCCAGCATCTCTGGCCAGGTCAGATTGTGATACC CCCCAGCACCTCTGGCCAGGTGAGGTTATGATGTCCCCCCAGCACCCCTG GCCAGGTGGGGTTATGAAATCCCCCCCGGCACCTCTGGCCAGGTGACATT TATGAAGTCACCCCCA	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		2538		chr15	TogoVar
TWIST2_chr2_238843085_238915534	238870859	T T	TACACCCC others(293): Show TACACCCCCCACACACCACACCCCACACACCATACACACCACACACCCCA CACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCA CACACACCACACACCCCACACACACCACACACCCCACACACACCACACAA ACCACACACCCCACACACACCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACACACACATCACATACCACACACACATCACATACCACACACAAACCACA C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	338	0.0030	300	c.35 others(319): Show c.35+22128_*35+22129insACCCCCCACACACCACACCCCACACA CCATACACACCACACACCCCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACAAACCACACACCCCACACACACCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACACACACATCACATACCACACACACATC ACATACCACACACAAACCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0114	1	320	0.0031	300	c.-38 others(311): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	320	0.0031	300	c.-38 others(311): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(293): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 NA18612.hp2 HG02615.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0231 a0001c0001t0001g0205 a0001c0001t0001g0231	2	320	0.0063	300	c.-38 others(311): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(293): Show TATATACACACGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TATACACAAGTGTGTATATACGTATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	320	0.0031	300	c.-38 others(311): Show c.-3848_-3847insATATACACACGTGTGTATATACGTATATACACAA GTGTGTATATACGTATATACACAAGTGTGTATATACGTATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGGTTCG others(293): Show CGGGTTCGGCTTGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTTGGAGGC TGTGGGATGGGGGTCGGGTGGGGCTTGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	344	0.0029	300	c.218 others(317): Show c.2182+106_2182+107insGGTTCGGCTTGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTTGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTTGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGATGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5B_chr10_71207570_71307864	71296762	C C	CATATTCC others(293): Show CATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA GATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCA G	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	368	0.0027	300	c.249 others(315): Show c.2490+40_2490+41insGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGCAG ATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296833	G G	GCTGGCGG others(293): Show GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0263 a0001c0001t0007g0263	1	368	0.0027	300	c.249 others(317): Show c.2490+140_2490+141insACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCACACTGGCGGAGGTGAGGGAAGGGTGGGGC AGATATTCCAGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95196786	A A	ATATATAT others(293): Show ATATATATTATATTTATGTAATATATAATATATATATTATATTTATGTAA TATATAATATATATATTATATTTATGTAATATATAATATATATTTATATA TTATATTTATGTAATATATAATATATATTTATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTATA TATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGTA ATATATAATATATATTTATATATTATATTTATGTAATATATAATATATAT T	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0065 a0001c0003t0027g0065	1	204	0.0049	300	c.213 others(319): Show c.2136+5944_2136+5945insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAATATATATTATATATTACATA AATATAATATATAAATATATATTATATATTACATAAATATAATATAAATA TATATTATATATTACATAAATATAATATATAAATATATATTATATATTAC ATAAATATAATATATATATTATATATTACATAAATATAATATATATATTA TATATTACATAAATATAATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15			chr4	TogoVar
VCX2_chrX_8164944_8176267	8169830	C C	CCCTCCCC others(293): Show CCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCT T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	115	0.0087	300	c.20 others(309): Show c.201_*202insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGG GGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGTGTGGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		113		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(293): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT C	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	408	0.0025	300	c.53+ others(315): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(293): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02630.hp1 HG02976.hp2 HG02109.hp2 HG02630.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0293 a0001c0001t0001g0316 a0001c0001t0001g0317	3	408	0.0074	300	c.53+ others(315): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATAGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS53_chr17_503668_719839	510318	A A	ATATCAAA others(293): Show ATATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC GTATCAAATCCTGGCCGACCCCTTACTAGTCCCATATGAAATCCTGGCTC ACCCCTCACTAGTCACATATCAAATCCTGGCTTGTCCCCTTGCTAGTCAC G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03491.hp2 NA18612.hp1 HG03491.hp2 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0085 a0002c0003t0090 a0002c0003t0085 a0002c0003t0090	a0002c0003t0085g0184 a0002c0003t0090g0171 a0002c0003t0085g0184 a0002c0003t0090g0171	2	232	0.0086	300	c.88 others(311): Show c.8809_*8810insCGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT CGGCCAGGATTTGATACGTGACTAGCAAGGGGACAAGCCAGGATTTGATA TGTGACTAGTGAGGGGTGAGCCAGGATTTCATATGGGACTAGTAAGGGGT CGGCCAGGATTTGATA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	22/22	8809		chr17	TogoVar
WDR72_chr15_53508741_53764663	53638668	T T	TAAAATAT others(293): Show TAAAATATCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCGGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03225.hp1 HG02258.hp2 HG03225.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0016c0021 a0001c0002 a0016c0021	a0001c0002t0049 a0016c0021t0063 a0001c0002t0049 a0016c0021t0063	a0001c0002t0049g0179 a0016c0021t0063g0175 a0001c0002t0049g0179 a0016c0021t0063g0175	2	316	0.0063	300	c.196 others(321): Show c.1963-22426_1963-22425insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGC CGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGATATTTT	WDR72	ENSG00000166415.15	transcript	ENST00000360509.10	protein_coding	14/19			chr15	TogoVar
XG_chrX_2747040_2821500	2773486	G G	GGAAGGAA others(293): Show GGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGG AAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAA GGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGG AAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAA GGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGG AGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAG A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0288 a0001c0001t0005g0288	1	322	0.0031	300	c.104 others(317): Show c.104-1220_104-1219insGAGAAGGAAGGAAGGAGAGAAGGAAGGA AGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGA AGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG GAAGGAAGGAGAGAAGGAAGGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(293): Show GATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00423.hp1 others(70): Show HG00140.hp2 HG00280.hp1 HG00423.hp1 HG00438.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02698.hp1 HG02809.hp1 HG03453.hp1 HG03490.hp1 HG03669.hp2 HG03942.hp2 HG04184.hp2 NA18949.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18966.hp2 NA18975.hp1 NA18979.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA19000.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19075.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0024 a0001c0002t0025 a0001c0003t0001 a0001c0003t0013	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0027 others(65): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0004g0078 a0001c0001t0004g0224 a0001c0001t0006g0074 a0001c0001t0006g0174 a0001c0001t0012g0108 a0001c0001t0013g0221 a0001c0001t0024g0164 a0001c0002t0025g0184 a0001c0003t0001g0009 a0001c0003t0001g0049 a0001c0003t0001g0065 a0001c0003t0013g0048	73	388	0.1881	300	c.-24 others(317): Show c.-24+5412_-24+5413insTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAA ATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTA CATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAG ATGAAATTTACATCTGTAAAAT	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(293): Show GATTTTTACAGATGAAATTTATATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA A	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	388	0.0026	300	c.-24 others(317): Show c.-24+5370_-24+5371insTATCTGTAAAATTTTTACAGATGAAATT TACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTAC AGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTA AAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATT TACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTAC AGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTA AAATTTTTACAGATGAAATTTA	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB43_chr9_126800040_126843210	126814265	G G	GATTTTTA others(293): Show GATTTTTACAGATGAAGTTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA AATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTT ACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACA GATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAA A	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	388	0.0026	300	c.-24 others(317): Show c.-24+5365_-24+5366insGTTTACATCTGTAAAATTTTTACAGATG AAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATT TTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACAT CTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATG AAATTTACATCTGTAAAATTTTTACAGATGAAATTTACATCTGTAAAATT TTTACAGATGAAATTTACATCTGTAAAATTTTTACAGATGAAATTTACAT CTGTAAAATTTTTACAGATGAA	ZBTB43	ENSG00000169155.10	transcript	ENST00000373464.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB44_chr11_130221677_130319917	130256655	A A	AAAATAAA others(293): Show AAAATAAATAAATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0009 a0001c0003t0012g0009	1	290	0.0035	300	c.101 others(319): Show c.1018+4200_1018+4201insATTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCACCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTATTTATTTATTT	ZBTB44	ENSG00000196323.14	transcript	ENST00000357899.9	protein_coding	2/7			chr11	TogoVar
ZFPM1_chr16_88448280_88542031	88501629	G G	GTGCGTGG others(293): Show GTGCGTGGGCTCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACATG GGTGCGTGGGCTCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACAT GGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGACA TGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAG A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00673.hp1 HG01106.hp2 others(15): Show HG00438.hp2 HG00673.hp1 HG01106.hp2 HG01192.hp1 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02615.hp1 HG02735.hp1 HG03471.hp2 HG03492.hp1 HG03688.hp1 HG04115.hp1 NA18978.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0023	a0000c0031 a0000c0043 a0001c0001 others(13): Show a0000c0031 a0000c0043 a0001c0001 a0001c0005 a0002c0002 a0002c0017 a0002c0036 a0003c0003 a0004c0055 a0005c0007 a0006c0011 a0007c0025 a0007c0026 a0007c0085 a0011c0024 a0023c0074	a0000c0031t0007 a0000c0043t0008 a0001c0001t0004 others(14): Show a0000c0031t0007 a0000c0043t0008 a0001c0001t0004 a0001c0005t0010 a0002c0002t0001 a0002c0002t0040 a0002c0017t0001 a0002c0036t0041 a0003c0003t0003 a0004c0055t0006 a0005c0007t0009 a0006c0011t0063 a0007c0025t0007 a0007c0026t0007 a0007c0085t0007 a0011c0024t0013 a0023c0074t0007	a0000c0031t0007g0104 a0000c0043t0008g0209 a0001c0001t0004g0264 others(15): Show a0000c0031t0007g0104 a0000c0043t0008g0209 a0001c0001t0004g0264 a0001c0005t0010g0141 a0002c0002t0001g0115 a0002c0002t0040g0069 a0002c0017t0001g0068 a0002c0036t0041g0054 a0003c0003t0003g0167 a0004c0055t0006g0009 a0005c0007t0009g0260 a0006c0011t0063g0148 a0007c0025t0007g0067 a0007c0026t0007g0039 a0007c0026t0007g0071 a0007c0085t0007g0047 a0011c0024t0013g0112 a0023c0074t0007g0079	18	318	0.0566	300	c.268 others(319): Show c.268+12476_268+12477insTGCGTGGGCTCTCCCGCAGGTGCTGG TGGTGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCTG GTGGTGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCT GGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGT GCTGGTGATGATGGAGATAGCAGA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZFPM1_chr16_88448280_88542031	88501629	G G	GTGCGTGG others(293): Show GTGCGTGGGCTCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACATG GGTGCGTGGGCTCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACAT GGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGGTGATGGAGATAGCAGACA TGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGAC ATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAGA CATGGGTGCGTGGGCTCTCCCGCAGGTGCTGGTGATGATGGAGATAGCAG A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02148.hp1 HG02004.hp2 HG02148.hp1	a0001 a0025 a0001 a0025	a0001c0001 a0025c0072 a0001c0001 a0025c0072	a0001c0001t0047 a0025c0072t0004 a0001c0001t0047 a0025c0072t0004	a0001c0001t0047g0122 a0025c0072t0004g0203 a0001c0001t0047g0122 a0025c0072t0004g0203	2	318	0.0063	300	c.268 others(319): Show c.268+12476_268+12477insTGCGTGGGCTCTCCCGCAGGTGCTGG TGGTGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCTG GTGGTGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGCT GGTGGTGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTGC TGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGTG CTGGTGATGATGGAGATAGCAGACATGGGTGCGTGGGCTCTCCCGCAGGT GCTGGTGATGATGGAGATAGCAGA	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	3/9			chr16	TogoVar
ZNF365_chr10_62369369_62407450	62370841	C C	CATATATC others(293): Show CATATATCATATACATCACATACATCACATATATGATATATATATCATAT ACATCACATATATGATATATATATCATATATATCACATATATGATATATA TCATATATATCACATATATGATATATATCATATATATCACATATATGATA TATATCATATATATCACATATATGATATATATCATATATCACATATATGA TATATATCATATATCATATGATATATATCATATATATCACATATATGATA TATATCATATGTGATATATATCATATATATCACATATATGATATATATCA T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	350	0.0029	300	c.-36 others(311): Show c.-3631_-3630insATATATCATATACATCACATACATCACATATATG ATATATATATCATATACATCACATATATGATATATATATCATATATATCA CATATATGATATATATCATATATATCACATATATGATATATATCATATAT ATCACATATATGATATATATCATATATATCACATATATGATATATATCAT ATATCACATATATGATATATATCATATATCATATGATATATATCATATAT ATCACATATATGATATATATCATATGTGATATATATCATATATATCACAT ATATGATATATATCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3527		chr10	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(294): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGA GGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGG ATGGGAGGGAGGGAGGGAAGGAAAGGAGGGAGGGAGGGAGGGATGGGAGG GA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0004 a0005c0026t0004	a0005c0026t0004g0195 a0005c0026t0004g0195	1	228	0.0044	301	c.259 others(322): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCCTCCCTCC CTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTC CCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCT TCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCC TTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTCCCAT CCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCCCTCC CTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(294): Show ATATATAGTATATATACTATATATATTTTATATATAGTATATATACTGTA TATACTATATATATTTTATATATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA GTATATATACTGTATATACTATATATATTTTATATATAGTATGTACTCTA TATATTTTATATATAGTATGTACTCTATATATTTTATATATAGTATGTAC TCTATATATTTTATATATAGTATGTACTATATATTTTATATATAGTATGT AC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	182	0.0055	301	c.505 others(320): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATATAGTATATACAGTATATATACTATATATAAAATATATATAGTATA TACAGTATATATACTATATATAAAATATATATAGTATATACAGTATATAT ACTATATATAAAATATATATAGTATATACAGTATATATACTATATATAAA ATATATATAGTATATATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456152	A A	ATATATAG others(294): Show ATATATAGTATATATACTGTATATATTTTATATATAGTATATATACTGTA TATACTATATATATTTTATATATAGTATATATACTGTATATACTATATAT ATTTTATATATAGTATATATACTGTATATACTATATATATTTTATATATA TTTTATATATAGTATGTACTCTATATATTTTATATATAGTATGTACTCTA TATATTTTATATATAGTATGTACTCTATATATTTTATATATAGTATGTAC TCTATATATTTTATATATAGTATGTACTATATATTTTATATATAGTATGT AC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0002 a0001c0001t0011g0002	1	182	0.0055	301	c.505 others(320): Show c.505-41182_505-41181insGTACATACTATATATAAAATATATAG TACATACTATATATAAAATATATAGAGTACATACTATATATAAAATATAT AGAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAAT ATATAGAGTACATACTATATATAAAATATATATAAAATATATATAGTATA TACAGTATATATACTATATATAAAATATATATAGTATATACAGTATATAT ACTATATATAAAATATATATAGTATATACAGTATATATACTATATATAAA ATATATACAGTATATATACTATATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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Search Results (Total: 10000 hits)