Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TCF3_chr19_1604292_1657615	1628333	C C	CGGGAAGG others(27): Show CGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0131 a0001c0005t0002g0131	1	352	0.0028	34	c.299 others(49): Show c.299-908_299-907insACCTCACCCCCGTGAGCTCTGCTGTCCCCT TCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628402	G G	GGGAAGGG others(27): Show GGGAAGGGGACAGCAGAACTCACGGGGGTGGGGCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0007 a0001c0003t0009g0007	1	352	0.0028	34	c.299 others(49): Show c.299-977_299-976insTGCCCCACCCCCGTGAGTTCTGCTGTCCCC TTCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628468	A A	AGGCGGAA others(27): Show AGGCGGAAAGGGGACAGCAGAGCTCACGGGGGTGG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0034 a0002c0001t0034	a0002c0001t0034g0309 a0002c0001t0034g0309	1	352	0.0028	34	c.299 others(51): Show c.299-1043_299-1042insCCACCCCCGTGAGCTCTGCTGTCCCCTT TCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628529	C C	CGGGGTGA others(27): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0024 a0001c0005t0024	a0001c0005t0024g0002 a0001c0005t0024g0003 a0001c0005t0024g0002 a0001c0005t0024g0003	2	352	0.0057	34	c.299 others(51): Show c.299-1104_299-1103insTGTGAGTTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628529	C C	CGGGGTGA others(27): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0011 a0001c0005t0004g0011	1	352	0.0028	34	c.299 others(51): Show c.299-1104_299-1103insTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628563	C C	CGGGGTGA others(27): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0338 a0001c0003t0005g0338	1	352	0.0028	34	c.299 others(51): Show c.299-1138_299-1137insTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628563	C C	CGGGGTGA others(27): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0034 a0002c0001t0034	a0002c0001t0034g0309 a0002c0001t0034g0309	1	352	0.0028	34	c.299 others(51): Show c.299-1138_299-1137insCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628563	C C	CGGGGTGA others(27): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0021 a0001c0005t0009g0021	1	352	0.0028	34	c.299 others(51): Show c.299-1138_299-1137insTGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628598	A A	AGGGGGTG others(27): Show AGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCAT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0007	a0002c0001t0007g0062 a0002c0001t0007g0062	1	352	0.0028	34	c.299 others(51): Show c.299-1173_299-1172insATGAGCTCTGCTGTCCCCTTCCCGCCTC ACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628603	G G	GTGAGGCG others(27): Show GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0257 a0001c0004t0002g0257	1	352	0.0028	34	c.299 others(51): Show c.299-1178_299-1177insACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628632	C C	CGGGGTGA others(27): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0103 a0001c0004t0008g0103	1	352	0.0028	34	c.299 others(51): Show c.299-1207_299-1206insCGTGAGCTCTGCTGTCCCCTTCCCACCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628715	G G	GAAGGGGA others(27): Show GAAGGGGACAGCAGAGCTCACAGGGGTGAGGCGGA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19068.hp2 NA18977.hp2 NA19068.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0012 a0001c0007t0002 a0001c0007t0012	a0001c0007t0002g0278 a0001c0007t0012g0335 a0001c0007t0002g0278 a0001c0007t0012g0335	2	352	0.0057	34	c.299 others(51): Show c.299-1290_299-1289insTCCGCCTCACCCCTGTGAGCTCTGCTGT CCCCTT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628726	C C	CAGAGCTC others(27): Show CAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0013 a0001c0005t0009g0013	1	352	0.0028	34	c.299 others(51): Show c.299-1301_299-1300insACTGTCCCCTTCCCGCCTCACCCCCGTG AGCTCT	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628737	G G	GGGGGTGA others(27): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACA	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0120 a0003c0006t0002g0120	1	352	0.0028	34	c.299 others(51): Show c.299-1345_299-1312dupTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628744	A A	AGGCGGAA others(27): Show AGGCGGAAAGGGGACAGCAGAGCTCACGGGGGTGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0069 a0002c0001t0069	a0002c0001t0069g0082 a0002c0001t0069g0082	1	352	0.0028	34	c.299 others(51): Show c.299-1319_299-1318insCCACCCCCGTGAGCTCTGCTGTCCCCTT TCCGCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628747	C C	CGGGAAGG others(27): Show CGGGAAGGGGACAGCAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0107 a0001c0007t0003g0107	1	352	0.0028	34	c.299 others(51): Show c.299-1322_299-1321insACCCCATCCCCATGAGCTCTGCTGTCCC CTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628776	A A	ATGAGGCG others(27): Show ATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0044 a0001c0005t0044	a0001c0005t0044g0041 a0001c0005t0044g0041	1	352	0.0028	34	c.299 others(51): Show c.299-1351_299-1350insCCCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCA	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628833	G G	GCTCACGG others(27): Show GCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0068 a0002c0001t0006g0068	1	352	0.0028	34	c.299 others(51): Show c.299-1408_299-1407insTTCTGCTGTCCCCTTCCCGCCCCACCCC CGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628838	C C	CGGGGTGA others(27): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0216 a0001c0002t0001g0216	1	352	0.0028	34	c.299 others(51): Show c.299-1446_299-1413dupCGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628871	C C	CGGGGTGA others(27): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA19000.hp1 NA19004.hp1 others(1): Show HG00408.hp1 NA19000.hp1 NA19004.hp1 NA19063.hp1	a0002 a0013 a0002 a0013	a0002c0001 a0013c0022 a0002c0001 a0013c0022	a0002c0001t0006 a0002c0001t0019 a0002c0001t0073 others(1): Show a0002c0001t0006 a0002c0001t0019 a0002c0001t0073 a0013c0022t0007	a0002c0001t0006g0076 a0002c0001t0019g0084 a0002c0001t0073g0079 others(1): Show a0002c0001t0006g0076 a0002c0001t0019g0084 a0002c0001t0073g0079 a0013c0022t0007g0066	4	352	0.0114	34	c.299 others(51): Show c.299-1446_299-1445insCATGAGCTCTGCTGTCCCCTTCCCACCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628904	C C	CGGGGTGA others(27): Show CGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCATG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0015 a0015	a0015c0024 a0015c0024	a0015c0024t0072 a0015c0024t0072	a0015c0024t0072g0179 a0015c0024t0072g0179	1	352	0.0028	34	c.299 others(51): Show c.299-1479_299-1478insCATGAGCTCTGCTGTCCCCTTCCCACCT CACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628932	G G	GCTCATGG others(27): Show GCTCATGGGGGTGAGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0068 a0002c0001t0006g0068	1	352	0.0028	34	c.299 others(51): Show c.299-1507_299-1506insTTCTGCTGTCCCCTTCCCGCCTCACCCC CATGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628944	A A	AGGTGGGA others(27): Show AGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA19065.hp2 NA18990.hp1 NA19065.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0007 a0002c0001t0084 a0002c0001t0007 a0002c0001t0084	a0002c0001t0007g0071 a0002c0001t0084g0290 a0002c0001t0007g0071 a0002c0001t0084g0290	2	352	0.0057	34	c.299 others(51): Show c.299-1519_299-1518insCCACCCCCGTGAGCTCTGCTGTCCCCTT CCCACC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1654962	A A	ACCTTCTT others(27): Show ACCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0023 a0010c0023	a0010c0023t0051 a0010c0023t0051	a0010c0023t0051g0140 a0010c0023t0051g0140	1	352	0.0028	34	c.-27 others(45): Show c.-2703_-2702insAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding		2348		chr19	TogoVar
TCF4_chr18_55217185_55593192	55303230	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02280.hp2 HG00323.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0037 a0001c0002t0036 a0001c0002t0037	a0001c0002t0036g0003 a0001c0002t0037g0007 a0001c0002t0036g0003 a0001c0002t0037g0007	2	122	0.0164	34	c.550 others(53): Show c.550-23575_550-23574insAGGGGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	8/19			chr18	TogoVar
TCF4_chr18_55217185_55593192	55303254	C C	CACACACA others(27): Show CACACACACACCCCTACACACACACACACACCCCT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0070 a0001c0001t0005g0070	1	122	0.0082	34	c.550 others(53): Show c.550-23599_550-23598insAGGGGTGTGTGTGTGTGTGTAGGGGT GTGTGTGT	TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	8/19			chr18	TogoVar
TCF7L1_chr2_85128392_85315387	85299860	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18906.hp1 NA18951.hp1 others(2): Show HG06807.hp1 NA18906.hp1 NA18951.hp1 NA18953.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0101 a0001c0001t0001g0216 a0001c0001t0002g0127 others(2): Show a0001c0001t0001g0101 a0001c0001t0001g0216 a0001c0001t0002g0127 a0002c0002t0001g0010 a0002c0002t0002g0008	5	236	0.0212	34	c.526 others(51): Show c.526-2613_526-2580dupACACACACACACACACACACACACACAC ACACAC	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L1_chr2_85128392_85315387	85308457	C C	CTTTCTCT others(27): Show CTTTCTCTTTCCCTCCCTTTCTCTTTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	236	0.0042	34	c.133 others(51): Show c.1334-571_1334-570insTTCTCTTTCCCTCCCTTTCTCTTTCCCT CCCTTT	TCF7L1	ENSG00000152284.5	transcript	ENST00000282111.4	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TCF7L2_chr10_112945247_113172678	112964809	T T	TGATGGTG others(27): Show TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01099.hp1 HG02132.hp1 others(4): Show HG00408.hp2 HG01099.hp1 HG02132.hp1 HG03704.hp2 NA19007.hp2 NA19010.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0002c0002t0001	a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0196 a0001c0001t0003g0170 a0001c0001t0007g0020 a0002c0002t0001g0021	7	200	0.0350	34	c.450 others(49): Show c.450+186_450+187insATGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGG	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112966184	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp2 HG02723.hp1 HG01109.hp2 HG02258.hp2 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0042 a0001c0004t0013 a0001c0001t0002 a0001c0001t0042 a0001c0004t0013	a0001c0001t0002g0095 a0001c0001t0042g0177 a0001c0004t0013g0147 a0001c0001t0002g0095 a0001c0001t0042g0177 a0001c0004t0013g0147	3	200	0.0150	34	c.450 others(51): Show c.450+1587_450+1588insATATATATATATATATATATATATATAT ATATAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCF7L2_chr10_112945247_113172678	112966184	T T	TTATATAT others(27): Show TTATATATATTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0166 a0001c0001t0039g0166	1	200	0.0050	34	c.450 others(51): Show c.450+1569_450+1570insTTATATATATATATATATATATATATAT ATATAT	TCF7L2	ENSG00000148737.18	transcript	ENST00000355995.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
TCHHL1_chr1_152079141_152094064	152082756	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00609.hp1 HG01071.hp1 others(44): Show HG00099.hp2 HG00609.hp1 HG01071.hp1 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01975.hp2 HG01978.hp2 HG02074.hp1 HG02132.hp2 HG02300.hp1 HG02717.hp2 HG02809.hp2 HG02896.hp2 HG02976.hp1 HG03139.hp1 HG03579.hp2 HG03654.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18949.hp1 NA18951.hp2 NA18984.hp1 NA18988.hp1 NA18990.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp2 NA19010.hp1 NA19011.hp2 NA19055.hp2 NA19058.hp1 NA19062.hp1 NA19062.hp2 NA19068.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0010c0016	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0010c0016t0001	a0001c0001t0001g0001 a0002c0002t0001g0002 a0003c0003t0001g0004 others(1): Show a0001c0001t0001g0001 a0002c0002t0001g0002 a0003c0003t0001g0004 a0010c0016t0001g0022	47	376	0.1250	34	c.22 others(45): Show c.2210_*2211insATATATATATATATATATATATATATATATATAT	TCHHL1	ENSG00000182898.4	transcript	ENST00000368806.2	protein_coding		1384		chr1	TogoVar
TCN2_chr22_30602174_30632271	30623803	T T	TATATATG others(27): Show TATATATGTATACATATATACACACATATATACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0260 a0002c0002t0001g0260	1	466	0.0022	34	c.122 others(51): Show c.1222+721_1222+722insTATATGTATACATATATACACACATATA TACACA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCTN3_chr10_95658401_95698927	95672160	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01081.hp2 others(14): Show HG00280.hp1 HG00639.hp1 HG01081.hp2 HG01123.hp2 HG01496.hp2 HG01515.hp2 HG01952.hp1 HG02717.hp2 HG02970.hp1 HG02976.hp2 NA18522.hp2 NA18953.hp1 NA19003.hp1 NA19043.hp2 NA19060.hp2 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0142 others(13): Show a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0142 a0001c0001t0001g0269 a0001c0001t0003g0022 a0001c0002t0001g0040 a0001c0002t0001g0052 a0001c0002t0001g0063 a0001c0002t0002g0087 a0001c0002t0002g0093 a0001c0002t0002g0098 a0001c0002t0002g0101 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0110 a0001c0007t0002g0039	17	400	0.0425	34	c.159 others(53): Show c.1591-7861_1591-7860insCACACACACACACACACACACACACA CACACACA	TCTN3	ENSG00000119977.22	transcript	ENST00000371217.10	protein_coding	13/13			chr10	TogoVar
TDO2_chr4_155898696_155925406	155909912	C C	CCTCCCCT others(27): Show CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03130.hp2 HG03516.hp1 others(1): Show HG02886.hp2 HG03130.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185	4	377	0.0106	34	c.432 others(47): Show c.432-88_432-87insCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TC	TDO2	ENSG00000151790.9	transcript	ENST00000536354.3	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TDP2_chr6_24644979_24671899	24648659	G G	GAAAAAAA others(27): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	418	0.0024	34	c.21 others(45): Show c.2128_*2129insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	TDP2	ENSG00000111802.14	transcript	ENST00000378198.9	protein_coding		1319		chr6	TogoVar
TDRD5_chr1_179586832_179696272	179691101	A A	AAAACAAT others(27): Show AAAACAATCAAAACAACAACAAACAAAACAAAACC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0044 a0003c0003t0005g0044	1	382	0.0026	34	c.15 others(43): Show c.158_*159insAAACAATCAAAACAACAACAAACAAAACAAAACC	TDRD5	ENSG00000162782.16	transcript	ENST00000444136.6	protein_coding	18/18	159		chr1	TogoVar
TDRD9_chr14_103923456_104057667	103944171	C C	CACATTAT others(27): Show CACATTATCCCTCCTTCAAGGCCCTCTGCAGTCTA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp2 others(16): Show HG00423.hp1 HG00558.hp1 HG00609.hp2 HG00621.hp2 HG01069.hp2 HG01074.hp2 HG01167.hp1 HG01168.hp2 HG01978.hp1 HG02523.hp1 NA18612.hp2 NA18955.hp1 NA18964.hp1 NA18965.hp2 NA19000.hp1 NA19011.hp2 NA19066.hp2 NA19070.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0026 a0001c0001 a0001c0003 a0001c0026	a0001c0001t0004 a0001c0003t0001 a0001c0003t0004 others(2): Show a0001c0001t0004 a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0026t0004	a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0328 others(16): Show a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0328 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0004g0013 a0001c0003t0004g0017 a0001c0003t0004g0019 a0001c0003t0004g0020 a0001c0003t0004g0021 a0001c0003t0004g0025 a0001c0003t0004g0116 a0001c0003t0004g0117 a0001c0003t0007g0022 a0001c0003t0007g0023 a0001c0003t0007g0024 a0001c0003t0007g0118 a0001c0026t0004g0018	19	372	0.0511	34	c.216 others(53): Show c.216-11467_216-11466insGCAGTCTAACATTATCCCTCCTTCAA GGCCCTCT	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDRD9_chr14_103923456_104057667	103968795	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03225.hp1 HG03491.hp2 others(5): Show HG01358.hp2 HG03225.hp1 HG03491.hp2 NA18966.hp1 NA18995.hp2 NA19056.hp1 NA19063.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0160 others(5): Show a0001c0001t0001g0152 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0173 a0001c0001t0001g0285 a0001c0001t0001g0314 a0001c0001t0001g0315	8	372	0.0215	34	c.766 others(51): Show c.766-1737_766-1736insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	TDRD9	ENSG00000156414.20	transcript	ENST00000409874.9	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr14	TogoVar
TDRKH_chr1_151768494_151795500	151781326	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03579.hp2 HG04204.hp2 others(5): Show HG00621.hp2 HG03579.hp2 HG04204.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA19070.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0068 others(3): Show a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0125 a0001c0001t0002g0132 a0001c0001t0002g0159	8	418	0.0191	34	c.231 others(49): Show c.231+154_231+155insATATATATATATATATATATATATATATAT ATAT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 NA18956.hp2 others(1): Show HG00738.hp1 HG00741.hp2 NA18956.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0139 a0001c0001t0002g0165 a0001c0001t0002g0046 a0001c0001t0002g0139 a0001c0001t0002g0165	4	418	0.0096	34	c.231 others(49): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATTT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TDRKH_chr1_151768494_151795500	151781328	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp2 HG01167.hp2 others(5): Show HG00323.hp2 HG01099.hp2 HG01167.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 NA19057.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0001c0001t0002 a0003c0005t0002	a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0002g0119 others(1): Show a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0002g0119 a0003c0005t0002g0135	8	418	0.0191	34	c.231 others(49): Show c.231+152_231+153insATATATATATATATATATATATATATATAT ATAT	TDRKH	ENSG00000182134.17	transcript	ENST00000368824.8	protein_coding	3/12			chr1	TogoVar
TEAD1_chr11_12669421_12949737	12719949	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0090 a0001c0001t0032g0090	1	206	0.0049	34	c.-54 others(53): Show c.-54-44218_-54-44185dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	2/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TEAD1_chr11_12669421_12949737	12821961	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0189 a0001c0002t0009g0189	1	206	0.0049	34	c.203 others(53): Show c.203-40269_203-40268insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	TEAD1	ENSG00000187079.20	transcript	ENST00000527636.7	protein_coding	3/12		WARNING_TRANSCRIPT_NO_START_CODON&INFO_REALIGN_3_PRIME	chr11	TogoVar
TECPR2_chr14_102357941_102507477	102385474	A A	AGAACAGC others(27): Show AGAACAGCATCCACAGGCTCTACCAGAGTTTGGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0042 a0005c0006t0004g0043 a0005c0006t0004g0042 a0005c0006t0004g0043	2	334	0.0060	34	c.219 others(51): Show c.219+8566_219+8599dupGTGGAACAGCATCCACAGGCTCTACCAG AGTTTG	TECPR2	ENSG00000196663.16	transcript	ENST00000359520.12	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr14	TogoVar
TEKT1_chr17_6792993_6836729	6793085	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0048 a0003c0004t0001g0048	1	406	0.0025	34	c.69 others(45): Show c.6941_*6942insCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4907		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793183	G G	GAAAGAAG others(27): Show GAAAGAAGAAAAAGAAAGAAAGAAAGAAAGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02040.hp1 HG02155.hp1 others(4): Show HG01255.hp2 HG02040.hp1 HG02155.hp1 HG03491.hp2 HG04228.hp1 NA18959.hp1 NA18977.hp1	a0004 a0004	a0004c0005 a0004c0014 a0004c0005 a0004c0014	a0004c0005t0006 a0004c0014t0006 a0004c0005t0006 a0004c0014t0006	a0004c0005t0006g0071 a0004c0005t0006g0074 a0004c0005t0006g0076 others(4): Show a0004c0005t0006g0071 a0004c0005t0006g0074 a0004c0005t0006g0076 a0004c0005t0006g0077 a0004c0005t0006g0082 a0004c0005t0006g0283 a0004c0014t0006g0115	7	406	0.0172	34	c.68 others(45): Show c.6843_*6844insTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTCTTT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4809		chr17	TogoVar
TEKT1_chr17_6792993_6836729	6793214	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0199 a0001c0002t0007g0199	1	406	0.0025	34	c.68 others(45): Show c.6812_*6813insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TEKT1	ENSG00000167858.13	transcript	ENST00000338694.7	protein_coding		4778		chr17	TogoVar
TEKT5_chr16_10622501_10699930	10683320	G G	GTCAGGGC others(27): Show GTCAGGGCCTAGGTGGAGTCAGGGATTGGGTGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0380 a0002c0021t0001g0380	1	388	0.0026	34	c.720 others(51): Show c.720-1185_720-1184insACCCACCCAATCCCTGACTCCACCTAGG CCCTGA	TEKT5	ENSG00000153060.8	transcript	ENST00000283025.7	protein_coding	3/6			chr16	TogoVar
TENM1_chrX_124370903_125209312	124974888	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	140	0.0071	34	c.-64 others(53): Show c.-64-11072_-64-11071insTATATATATATATATATATATATATA TATATATA	TENM1	ENSG00000009694.14	transcript	ENST00000422452.4	protein_coding	3/34			chrX	TogoVar

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