Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
SART1_chr11_65956734_65985137	65971059	A A	AGCTGCTG others(243): Show AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCT GAGGAGGGGGATGGTGGGATTCAGGAGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC T	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0255 a0001c0002t0003g0255	1	384	0.0026	250	c.157 others(269): Show c.1572+3242_1572+3243insCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCA TGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SART1_chr11_65956734_65985137	65971268	A A	AGCTGAGG others(243): Show AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGC T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0069 a0001c0004t0007g0069	1	384	0.0026	250	c.157 others(269): Show c.1572+3505_1572+3506insTGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBNO2_chr19_1102638_1179268	1164809	G G	GAGGAGGA others(243): Show GAGGAGGAGGAAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGTTTA GGACACTGTGGGGACGTCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGA GGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGG AGGAGGAGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAG GAGGAGGAGGAGGAAAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	203	0.0049	250	c.-12 others(269): Show c.-127+9362_-127+9363insGTTCCTCCTCCTCCTCCTGTTCCTCC TCCTCCTCCTTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCGTCCTCC TGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCG GCATCTGGACGTCCCCACAGTGTCCTAAACACCTGTTTCTCCTCCTCCTC CTCCTCCTGCTCCTTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(243): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGG GGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGG GGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGG G	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0122 a0002c0003t0002g0122	1	290	0.0035	250	c.464 others(263): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGG GTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGGGG GGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGG TGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEMA3A_chr7_83950777_84199789	84086468	T T	TATATTAT others(243): Show TATATTATTATATTATATTTACATATAATATATTATTATATTATATTTAC ATATAATATATTATTATATTATATTTACATATAATATATTATTATATTAT ATTTACATATAATATATTATTATATTATATTTACATATAATATATTATTA TATTATATTTACATATAATATATTATTATATTATATTTACATATAATATA TTATTATATTATATTTACATATAATATATTATTATATTATATTTACATAT A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0069 a0001c0003t0008g0069	1	276	0.0036	250	c.453 others(269): Show c.453+24001_453+24002insTATATGTAAATATAATATAATAATAT ATTATATGTAAATATAATATAATAATATATTATATGTAAATATAATATAA TAATATATTATATGTAAATATAATATAATAATATATTATATGTAAATATA ATATAATAATATATTATATGTAAATATAATATAATAATATATTATATGTA AATATAATATAATAATATATTATATGTAAATATAATATAATAATATATTA TATGTAAATATAATATAATAATAT	SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16			chr7	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(243): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG A	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18940.hp2 NA18993.hp2 HG00408.hp2 NA18940.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0017 a0001c0003t0007 a0001c0001t0017 a0001c0003t0007	a0001c0001t0017g0238 a0001c0001t0017g0258 a0001c0003t0007g0241 a0001c0001t0017g0238 a0001c0001t0017g0258 a0001c0003t0007g0241	3	370	0.0081	250	c.-30 others(269): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAATAG others(243): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0026 a0026	a0026c0049 a0026c0049	a0026c0049t0001 a0026c0049t0001	a0026c0049t0001g0002 a0026c0049t0001g0002	1	256	0.0039	250	c.165 others(267): Show c.165+5450_165+5451insGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SIGIRR_chr11_400716_419999	401378	C C	CCCCGGCC others(243): Show CCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGGCCCCCGCTCACACCCGACCCGCTCACCCCCG GCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCAC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	242	0.0041	250	c.45 others(261): Show c.4517_*4518insTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGT GAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAG CGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGGCC GGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4337		chr11	TogoVar
SLC22A12_chr11_64586220_64607344	64595930	G G	GATGGGTG others(243): Show GATGGGTGGATGTGATGGATGGGGTTGGATGGTGGTTTGGAGGTTGGATG GTTGGTTGGATGGATGGATGGGATGGATTGGATGGATGGATGGGATTGAT GGATGGATGGATGAGATGGGTTGGATGGTTGGATGGTTGGTGGATGGGAT GGATGGATGGATTGATGGATGATGGGTTGGTGGTGGTGTGGTTGATTGAT GGATAGTTGGAATAGATGGAATGGATGGATGGATGGATGGTCGAATGGAT A	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0120 a0006c0011t0003g0120	1	390	0.0026	250	c.830 others(267): Show c.830+2127_830+2128insATGGGTGGATGTGATGGATGGGGTTGGA TGGTGGTTTGGAGGTTGGATGGTTGGTTGGATGGATGGATGGGATGGATT GGATGGATGGATGGGATTGATGGATGGATGGATGAGATGGGTTGGATGGT TGGATGGTTGGTGGATGGGATGGATGGATGGATTGATGGATGATGGGTTG GTGGTGGTGTGGTTGATTGATGGATAGTTGGAATAGATGGAATGGATGGA TGGATGGATGGTCGAATGGATA	SLC22A12	ENSG00000197891.12	transcript	ENST00000377574.6	protein_coding	4/9			chr11	TogoVar
SLC45A4_chr8_141202174_141313288	141203172	G G	GAGAGGGA others(243): Show GAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGGGAGGAGGGAGGACCGTG GAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGAGGGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGGAGAGGGA GACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGAGA GAGGGAGAGAGGGAGAGAGAGAGAGAGAGACCGTGGAGAGAGAGAGAGAG A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0099 a0001c0004t0006g0099	1	188	0.0053	250	c.83 others(261): Show c.8399_*8400insTCTCTCTCTCTCTCTCCACGGTCTCTCTCTCTCT CTCTCCCTCTCTCCCTCTCTCCTCTCCCTCTCCCTCTCTCTCTCTCTCTC TCTCTCTCTCCACGGTCTCCCTCTCCCCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCTCCACGGTCTCCCT CTCCCTCTCCCTCTCTCCACGGTCCTCCCTCCTCCCTCTCTCTCTCCACG GTCTCCCTCTCCCTCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		4001		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203237	G G	GGGAGAGG others(243): Show GGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGACCG TGGAGAGAGGGAGAGGGAGAGGGAGACCGTGGAGAGAGAGAGAGGGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGACCG TGGAGAGAGAGAGAGAGAGGGAGAGGGAGAGAGGGAGAGAGAGAGAGAGA GAGAGAGAGAGACCGTGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGACCG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0012 a0002c0001t0001g0012	1	188	0.0053	250	c.83 others(261): Show c.8334_*8335insACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC CACGGTCTCTCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCCTCTCCCT CTCTCTCTCTCTCTCCACGGTCTCCCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCTCCCTCTCTCTCTCTCCACGGTCTCCCTCT CCCTCTCCCTCTCTCCACGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCTC CACGGTCTCCCTCTCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3936		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79952592	A A	AAGTGTGA others(243): Show AAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGGTGAGGGG TGAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGA GTGAGGGGAGCGTGGGTGAGGGGTGAGGGGAGCGCGGGTGAAGAGTGAGG GGAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCG CGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	352	0.0028	250	c.-11 others(261): Show c.-1112_-1111insCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCAC CCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCA CACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCTCCCCTCACCCCTC ACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCCT CACCCGCGCGCCCCTCACCCCTCACCCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACACT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		940		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952592	A A	AAGTGTGA others(243): Show AAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGCGCGCGGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGAGTGAAGA GTGAGGGGAGCGTGGGTGAGGGGTGAGGGGAGCGCGGGTGAAGAGTGAGG GGAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCG CGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0203 a0001c0001t0005g0203	1	352	0.0028	250	c.-11 others(261): Show c.-1112_-1111insCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCAC CCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCA CACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCTCCCCTCACCCCTC ACCCACGCTCCCCTCACTCTTCACTCGCGCGCCCCTCACCCCTCACCCCT CACCCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACACT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		940		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952592	A A	AAGTGTGA others(243): Show AAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGAGTGAAGAG TGAGGGGAGCGTGGGTGAGGGGTGAGGGGAGCGCGGGTGAAGAGTGAGGG GAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGC GGGTGAGGGGTGAGGGGTGAGGGTGCGCGCGGGTGAAGAGTGAGGGGAGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0193 a0001c0001t0008g0193	1	352	0.0028	250	c.-11 others(261): Show c.-1112_-1111insCGCTCCCCTCACTCTTCACCCGCGCGCACCCTCA CCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTC ACACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCTCCCCTCACCCCT CACCCACGCTCCCCTCACTCTTCACTCGCGCGCCCCTCACCCCTCACCCC TCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACACT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		940		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952592	A A	AAGTGTGA others(243): Show AAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAG TGAGGGGAGCGTGGGTGAGGGGTGAGGGGAGCGCGGGTGAAGAGTGAGGG GAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGGCGCG CGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0172 a0001c0001t0007g0172	1	352	0.0028	250	c.-11 others(261): Show c.-1112_-1111insCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCAC CCCTCACCCCTCACCCGCGCGCCCCCTCACCCCTCACCCGCGCTCCCCTC ACACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCTCCCCTCACCCCT CACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCC TCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACACT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		940		chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79952592	A A	AAGTGTGA others(243): Show AAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGT GAGGGGCGCGCGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAG TGAGGGGAGCGTGGGTGAGGGGTGAGGGGGAGCGCGGGTGAAGAGTGAGG GGAGCGCGGGTGAAGTGTGAGGGGAGCGCGGGTGAGGGGTGAGGGGCGCG CGGGTGAGGGGTGAGGGGTGAGGGGCGCGCGGGTGAAGAGTGAGGGGAGC G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0261 a0001c0001t0028g0261	1	352	0.0028	250	c.-11 others(261): Show c.-1112_-1111insCGCTCCCCTCACTCTTCACCCGCGCGCCCCTCAC CCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCCGCGCTCCCCTCA CACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGCTCCCCCTCACCCCT CACCCACGCTCCCCTCACTCTTCACCCGCGCGCCCCTCACCCCTCACCCC TCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACCC GCGCTCCCCTCACACT	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		940		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(243): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATTATATATATTATATATATTATG TATAATATATATTATATATATTATATATTATGTATAATATATATTTTATA TATTATATATATTATGTATAATATATATTATATATTATATATATTATGTA TAATATATATTATATATTATATATATTATGTATAATATATATTATATATT A	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0278 a0001c0001t0005g0278	1	310	0.0032	250	c.784 others(265): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAATATATATTATACATAATATATATAATATATAATATATA TTATACATAATATATATAATATATAAAATATATATTATACATAATATATA ATATATATAATATATATTATACATAATATATATAATATATATAATATATT ATACATAATATATATAATATATATATAATATATAATATATATTATACATA ATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SNTG2_chr2_945849_1372613	1221591	T T	TCTCTGCC others(243): Show TCTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTC TCTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTC TGCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTC TCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTC TCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTC C	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19043.hp2 HG02109.hp1 NA19043.hp2	a0007 a0007	a0007c0016 a0007c0017 a0007c0016 a0007c0017	a0007c0016t0001 a0007c0017t0001 a0007c0016t0001 a0007c0017t0001	a0007c0016t0001g0033 a0007c0017t0001g0118 a0007c0016t0001g0033 a0007c0017t0001g0118	2	190	0.0105	250	c.719 others(269): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS7_chr17_38346844_38410593	38387650	A A	ATATATTG others(243): Show ATATATTGTATATTATATATACTATATATTGTATATATACTATATATTGT ATATTATATATACTATATAGTATAATACAGTATAATATATATACTATATA CTGTATATTATATATACAATATACAGTATATTATATATACAATATATAGT ATATATAATATACAGTATATAGTATATATAATATACAGTATATAGTATAT ATAATATACTATATATAGTATATATACAATATACTATATATGTTTATACT G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02280.hp1 HG02145.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0008 a0001c0002t0018g0009 a0001c0002t0018g0008 a0001c0002t0018g0009	2	289	0.0069	250	c.168 others(269): Show c.1682-7647_1682-7646insTATATATACTATATATTGTATATATA CTATATATTGTATATTATATATACTATATAGTATAATACAGTATAATATA TATACTATATACTGTATATTATATATACAATATACAGTATATTATATATA CAATATATAGTATATATAATATACAGTATATAGTATATATAATATACAGT ATATAGTATATATAATATACTATATATAGTATATATACAATATACTATAT ATGTTTATACTGTATATTGTATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORBS2_chr4_185580523_185817194	185796447	C C	CCATGCCT others(243): Show CCATGCCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGTGAGGCTGG GCATGCCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGTGAGGCTGG GCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGTAGGGCTGG GCATGGCTGGGCGCTGTGGCCACGCTGTTCCCTGGTCACGGTGAGGCTGG GCATGCCTGGGCTCTGTGGCCACGCTGTTCCCTGGTCACAGTAGGGCTGG G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG01515.hp2 others(3): Show HG01074.hp1 HG01106.hp1 HG01515.hp2 HG02602.hp1 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 others(3): Show a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0037t0030	a0001c0001t0008g0097 a0001c0001t0011g0171 a0001c0001t0012g0081 others(3): Show a0001c0001t0008g0097 a0001c0001t0011g0171 a0001c0001t0012g0081 a0001c0001t0013g0200 a0001c0001t0015g0080 a0001c0037t0030g0088	6	312	0.0192	250	c.-23 others(271): Show c.-237+15216_-237+15217insCCCAGCCCTACTGTGACCAGGGAA CAGCGTGGCCACAGAGCCCAGGCATGCCCAGCCTCACCGTGACCAGGGAA CAGCGTGGCCACAGCGCCCAGCCATGCCCAGCCCTACTGTGACCAGGGAA CAGCGTGGCCACAGAGCCCAGGCATGCCCAGCCTCACCGTGACCAGGGAA CAGCGTGGCCACAGCGCCCAGGCATGCCCAGCCTCACCGTGACCAGGGAA CAGCGTGGCCACAGCGCCCAGGCATG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26			chr4	TogoVar
SPAAR_chr9_35904490_35916686	35914018	G G	GTGTGTGT others(243): Show GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGT GAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02486.hp2 NA20129.hp1 HG02055.hp2 HG02486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0002 a0001c0001t0007g0002	3	420	0.0071	250	c.33 others(261): Show c.3327_*3328insTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAG TTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2333		chr9	TogoVar
SRXN1_chr20_641615_658200	642007	G G	GGGGGGTC others(243): Show GGGGGGTCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGGGTTGCCTGGGGG GGCGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGAGGCC CAGCGGGGGTGGGGTTGCCTGGGGGGGTGCCCAGCGGGGGTGGAGTTGCC T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0048 a0001c0002t0005g0048	1	422	0.0024	250	c.67 others(261): Show c.6706_*6707insAGGCAACTCCACCCCCGCTGGGCACCCCCCCAGG CAACCCCACCCCCGCTGGGCCTCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACCC CACCCCCGCTGGGCGCCCCCCCAGGCAACCCCACCCCCGCTGGGCCTCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCA CCCCCGCTGGACCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4607		chr20	TogoVar
SRXN1_chr20_641615_658200	642134	G G	GGGGGGCC others(243): Show GGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGC GGGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTG T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	250	c.65 others(261): Show c.6579_*6580insACAGGCAACTCCACCCCCGCTGGGCCCCCCACCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCA CCCCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4480		chr20	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(243): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCACCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCCGGCCCCGCCCCGGCCCAGTGCCCCGC CCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGA GCTCCGCCCCGGCCTCGCCCCGGCCCCTGCCCGCTCCGAGCTTCGCCCCG G	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	388	0.0026	250	c.483 others(263): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGAGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCCGGGGCGGGGCCGGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAGGGCAAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGTGGAGCTCGGAGCGG GCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(243): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCC GCCCAGTGCCCCGCCCCCTGCCTGCTGCTAGCCCTGCCCCCGCCCCGGCC CCTGCCCGCTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGC CCCCTGCCTGCTGCTTGCCCTGCCCCCTCCCCGGCCCCTGCCCGCTCCGA GCTCCGCCCCGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTTCGCCCCG G	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA19066.hp1 HG04184.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0018 a0001c0001t0011 a0001c0001t0018	a0001c0001t0011g0049 a0001c0001t0018g0248 a0001c0001t0011g0049 a0001c0001t0018g0248	2	388	0.0052	250	c.483 others(263): Show c.483+92_483+93insCCGGGGCGAAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGAGGGGGCAG GGCAAGCAGCAGGCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAGGGCTAGCAGCAGGC AGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGCGGAGCTCGGAGCGG GCAGGGGCCGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SVEP1_chr9_110360248_110584741	110390341	T T	TTATATAT others(243): Show TTATATATACTTATATAAGTATGTGTATATATACTTATATATATACTTAT ATAAGTATATATATACGTATATATATAAGTATGTATATACTTGTATATAT ACTTATATAAGTATGTATGTATATATACTTATATAAGTATGTATGTGTAT ATATACGTGTATATATATATACTTATATATACGTGTATATATACTTATAT ATATATACACACACACACACACACACACGTATATACTTATATATACGTAT A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0080 a0080	a0080c0103 a0080c0103	a0080c0103t0005 a0080c0103t0005	a0080c0103t0005g0074 a0080c0103t0005g0074	1	362	0.0028	250	c.982 others(267): Show c.9823-755_9823-754insTATACGTATATATAAGTATATACGTGTG TGTGTGTGTGTGTGTGTATATATATATAAGTATATATACACGTATATATA AGTATATATATATACACGTATATATACACATACATACTTATATAAGTATA TATACATACATACTTATATAAGTATATATACAAGTATATACATACTTATA TATATACGTATATATATACTTATATAAGTATATATATAAGTATATATACA CATACTTATATAAGTATATATA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
TBCD_chr17_82747065_82950914	82765169	C C	CTGTGCTC others(243): Show CTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCT TTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTAC AAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGG GTGTCTGTCTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGT G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01993.hp2 HG02735.hp2 HG01256.hp1 HG01993.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0017 a0001c0002t0001 a0001c0002t0017	a0001c0002t0001g0260 a0001c0002t0017g0259 a0001c0002t0017g0261 a0001c0002t0001g0260 a0001c0002t0017g0259 a0001c0002t0017g0261	3	318	0.0094	250	c.334 others(267): Show c.334-1096_334-1095insTGCTCATAGTCTGCTTTTCTTACAAGCT TGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTC TGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCT CATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGC TTTTCTTACAAGCTTGCGGGTGTCTGTCTGCTCATAGTCTGCTTTTCTTA CAAGCTTGCGGGTGTCTGTGTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TERT_chr5_1248167_1300068	1273640	G G	GACCGCCA others(243): Show GACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATC AGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCG CCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCACA GTCACCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATC A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp1 HG02559.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0342 a0001c0001t0001g0223 a0001c0001t0001g0342	2	392	0.0051	250	c.228 others(269): Show c.2287-1361_2287-1360insTGATGTGTGGTGACTGTGGATGGCGG TTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGTGATCGGTCACAGGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMCO3_chr13_113486021_113555229	113509188	C C	CCCTGGCG others(243): Show CCCTGGCGTTGCCTGTGTGTGTTGGGACTGGCGGGCTTGGTGGGTGGGTC CCCCCTGGAGCTGCCTGTGTATGTTGGGACTGGTGGGCTTGGTGGGTGGG TCCCCTGGAGCTGCCTGTCTATGTTGGGACTGGCGGGCTTGGTGGGTGGG TCTCCTGGAGCTGCCTGTCTATGTTGGGACTGGCGGGCTTGGTGGGTGGG TCCCCTGGAGCTGCCTGTGTATGTTGGGACTGGTGGGCTTGGTGGGTGGG T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00597.hp2 others(74): Show HG00423.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02132.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18906.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp2 NA18953.hp1 NA18955.hp1 NA18966.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp2 NA19001.hp2 NA19002.hp2 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA19064.hp1 NA19075.hp2 NA19080.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp1	a0003 a0005 a0007 others(1): Show a0003 a0005 a0007 a0010	a0003c0002 a0003c0016 a0003c0023 others(3): Show a0003c0002 a0003c0016 a0003c0023 a0005c0010 a0007c0021 a0010c0015	a0003c0002t0002 a0003c0016t0002 a0003c0023t0002 others(3): Show a0003c0002t0002 a0003c0016t0002 a0003c0023t0002 a0005c0010t0002 a0007c0021t0002 a0010c0015t0002	a0003c0002t0002g0006 a0003c0002t0002g0008 a0003c0002t0002g0009 others(69): Show a0003c0002t0002g0006 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0022 a0003c0002t0002g0024 a0003c0002t0002g0025 a0003c0002t0002g0026 a0003c0002t0002g0027 a0003c0002t0002g0028 a0003c0002t0002g0029 a0003c0002t0002g0030 a0003c0002t0002g0031 a0003c0002t0002g0032 a0003c0002t0002g0033 a0003c0002t0002g0034 a0003c0002t0002g0035 a0003c0002t0002g0036 a0003c0002t0002g0037 a0003c0002t0002g0038 a0003c0002t0002g0039 a0003c0002t0002g0040 a0003c0002t0002g0041 a0003c0002t0002g0042 a0003c0002t0002g0043 a0003c0002t0002g0044 a0003c0002t0002g0045 a0003c0002t0002g0046 a0003c0002t0002g0047 a0003c0002t0002g0048 a0003c0002t0002g0049 a0003c0002t0002g0051 a0003c0002t0002g0052 a0003c0002t0002g0055 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0002g0058 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0061 a0003c0002t0002g0062 a0003c0002t0002g0063 a0003c0002t0002g0064 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0069 a0003c0002t0002g0070 a0003c0002t0002g0072 a0003c0002t0002g0073 a0003c0002t0002g0074 a0003c0002t0002g0076 a0003c0002t0002g0077 a0003c0002t0002g0078 a0003c0002t0002g0079 a0003c0002t0002g0080 a0003c0002t0002g0081 a0003c0002t0002g0082 a0003c0002t0002g0083 a0003c0002t0002g0084 a0003c0002t0002g0085 a0003c0002t0002g0086 a0003c0002t0002g0087 a0003c0002t0002g0301 a0003c0002t0002g0302 a0003c0016t0002g0075 a0003c0023t0002g0023 a0005c0010t0002g0050 a0005c0010t0002g0053 a0007c0021t0002g0054 a0010c0015t0002g0071	77	368	0.2092	250	c.103 others(269): Show c.1039-1048_1039-1047insTGGCGTTGCCTGTGTGTGTTGGGACT GGCGGGCTTGGTGGGTGGGTCCCCCCTGGAGCTGCCTGTGTATGTTGGGA CTGGTGGGCTTGGTGGGTGGGTCCCCTGGAGCTGCCTGTCTATGTTGGGA CTGGCGGGCTTGGTGGGTGGGTCTCCTGGAGCTGCCTGTCTATGTTGGGA CTGGCGGGCTTGGTGGGTGGGTCCCCTGGAGCTGCCTGTGTATGTTGGGA CTGGTGGGCTTGGTGGGTGGGTCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120A_chr7_75981831_75999595	75988980	G G	GGGGTGGA others(243): Show GGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGAGGG GGTGTGGAGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGTGGGG TGGGGGGTGGAGGGGAAGGCCGGGTGGGGGGGTGGAGGGGAAGGCCGGGT GGGGGGGTGGAGGGGAAGGCGGGGAGGGGGTGTGGAGGGGAAGGCGGGGA GGGGGTGTGGAGGGGAAGGCGGGGAGGGGGGTGTGGAGGGGAAGGCCGGG T	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	368	0.0027	250	c.377 others(265): Show c.377+184_377+185insACCCGGCCTTCCCCTCCACACCCCCCTCCC CGCCTTCCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCTCCC CGCCTTCCCCTCCACCCCCCCACCCGGCCTTCCCCTCCACCCCCCCACCC GGCCTTCCCCTCCACCCCCCACCCCACCCGGCCTTCCCCTCCACCCCCCC ACCCGGCCTTCCCTCCACACCCCCTCCCCGCCTTCCCCTCCACACCCCCT CCCCGCCTTCCCCTCCACCC	TMEM120A	ENSG00000189077.11	transcript	ENST00000493111.7	protein_coding	4/11			chr7	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(243): Show TTATATATAAATATATATTTTTATATATTTATATATAAATATATATTTTT ATATATTTATATATAAATATATATTCTTTTATATATTTATATATATATTT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATAAATATACTTTTATATATTTATATATAAATATAT ATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTTATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG06807.hp1 HG01175.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0289 a0001c0001t0002g0218 a0001c0001t0002g0289	2	348	0.0058	250	c.11 others(263): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGTATA TTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATAAA AGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAATATATATTTATATATAAATATATAAA AATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMPRSS2_chr21_41459305_41513158	41474609	G G	GGTGGGTG others(243): Show GGTGGGTGAGGGGTGGGTGAGGGGATGAGGGAGTGATTCAGAGGGTGAAG GGGTGAGTGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAGTGA GGGGGTGACTGAGGGGTGAAGGGGGGAGTGAGGAGGAGAGTGAGGGGGGT GAAGGCATGAGTGAGGGGGTGAATGGGTGAGAGACGGGGTGAGTGAGGGG TGAAGGGATGAATGAGGGGGTAAGTAAGGGGTTGAGGGGGTGAGGGGGTG A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0197 a0001c0004t0001g0197	1	382	0.0026	250	c.728 others(267): Show c.728-1114_728-1113insTCACCCCCTCACCCCCTCAACCCCTTAC TTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCA TTCACCCCCTCACTCATGCCTTCACCCCCCTCACTCTCCTCCTCACTCCC CCCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCA TGCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATC CCCTCACCCACCCCTCACCCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMTC2_chr12_82681906_83139866	82997352	A A	ATATATAT others(243): Show ATATATATATATATGTGTATATATATATGTGTATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATAT ATATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGT ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATATGTGTATATATATATATGT G	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0008 a0001c0001t0024g0008	1	96	0.0104	250	c.207 others(271): Show c.2070+11333_2070+11334insGTGTATATATATATGTGTGTATAT ATATATATGTGTATATATATATGTGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATATGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATATGTGTATATATATATATGTGT ATATATATATATGTGTATATATATAT	TMTC2	ENSG00000179104.9	transcript	ENST00000321196.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(243): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAG AGGGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGAGGGGA GGGGAGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGA G	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	320	0.0031	250	c.612 others(265): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCTCTTCTCTCCTCCCCTCCCC TTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCC TCCCCTCCCCTCCCCTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTC TCCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCC TCCCCTCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(243): Show AGGGGAGGGGAGAAGGAGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGGA GGGCAGAAGACGGGAGGGAGAAGAGGGGAGGAGAGGGGATGGAATAATAG GGGAGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAG GGGAGGGGAGGGGAGGAAAGGGGAGGGGAGGGAGAGAAGAGGGAGGGGAG GGGAGGGAAAGGGGAGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGA G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	320	0.0031	250	c.612 others(265): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCCTCCCCTCCCCTCCCTCTTCTCTCCCTCCCCTCC CCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCT CCTCCCCTCCCCTCCCCTCCCCTATTATTCCATCCCCTCTCCTCCCCTCT TCTCCCTCCCGTCTTCTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTC CTCCTCCTTCTCCCCTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930488	A A	AGGAGGCC others(243): Show AGGAGGCCGGGGGTTAGGGAGGCCTAGGGTTAAGGAGGCCGGGGGTAGGG AGGCTGGGGGTTAGGAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGG CCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGGTTAGGAAGGCCG GGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTA G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02896.hp2 HG02895.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	2	466	0.0043	250	c.51 others(261): Show c.5102_*5103insCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAA CCCCGGCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCC CCTGGCCTCCCTAACCCCGGCCTTCCTAACCCCCAGCCTCCCTAACCCCG GCCTCCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCC TTCCTAACCCCCAGCCTCCCTACCCCCGGCCTCCTTAACCCTAGGCCTCC CTAACCCCCGGCCTCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4881		chr11	TogoVar
TPCN2_chr11_69043932_69095597	69077269	T T	TCCTGCCC others(243): Show TCCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCC ACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTTC A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0015 a0004c0013t0015	a0004c0013t0015g0209 a0004c0013t0015g0209	1	404	0.0025	250	c.123 others(269): Show c.1231-1199_1231-1198insGTGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTCCACCTGCCCTCCTGCCGTGTCCCTCCACCTGCCCTCCTGCCG TGTCCCTTCACCTGCCCTCCTGCC	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
TPO_chr2_1408463_1548673	1490249	C C	CAGTGTAA others(243): Show CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGAGTCACGACACAG CAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGAGTCACGACACAA T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0015 a0008c0011t0015	a0008c0011t0015g0120 a0008c0011t0015g0120	1	130	0.0077	250	c.176 others(269): Show c.1768+2269_1768+2270insCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGAGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCGCACAGGGGGA GTCACGACACAGCAGTGTAAGAGCCGCCACGAGGGTCCCACACAGGGGGA GTCACGACACAATAGTGTAAGAGC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1527048	A A	AGCAAACT others(243): Show AGCAAACTCCTCAAATCCCCTCACTGTGTGCCACCTCCCCAAATCCCCCC ACTTTCTGCAACCTCCGCAAATCCCCCCACTGTGTGCAACCTCCTCCAAT CCCCCCACTGTGAGCAACCTCCCCAAATCCTCCTACTGTGTGCAACCTCC TCAAATCCCCCACTGTGTGCAACCTCCCCAAATCCTCCTACTGTGTGCAA CCTCCTCAAATCCCCCACTGTGAGCAACCTCCCCAAATCCTCCTACTGTG T	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0004 a0002c0015t0004	a0002c0015t0004g0112 a0002c0015t0004g0112	1	130	0.0077	250	c.261 others(271): Show c.2618+10070_2618+10071insACTCCTCAAATCCCCTCACTGTGT GCCACCTCCCCAAATCCCCCCACTTTCTGCAACCTCCGCAAATCCCCCCA CTGTGTGCAACCTCCTCCAATCCCCCCACTGTGAGCAACCTCCCCAAATC CTCCTACTGTGTGCAACCTCCTCAAATCCCCCACTGTGTGCAACCTCCCC AAATCCTCCTACTGTGTGCAACCTCCTCAAATCCCCCACTGTGAGCAACC TCCCCAAATCCTCCTACTGTGTGCAA	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1537060	C C	CCGCCCCA others(243): Show CCGCCCCAATCTGTGCAACCTCCCACTCTACCCCCCACTGTGTGCAACCC CCCAAAATCCCCCCACTGTGTGCATCCTCCTCAAATCACTATTGTGTGAA ACCTCCCCAAATCCCCCCCACTGTGTGCAACCTCCCCAATTCCCCACCAC TGTGTGCAACCTCCTCAAATCCCCCCACTGTGTGCAACCACCCCAAACCC CCCACAGTTTGAAACCTCCCCAAATCCCTGCCACTGTGTGCAACTTCAAT T	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0000 a0007 a0000 a0007	a0000c0019 a0007c0020 a0000c0019 a0007c0020	a0000c0019t0004 a0007c0020t0004 a0000c0019t0004 a0007c0020t0004	a0000c0019t0004g0007 a0007c0020t0004g0018 a0000c0019t0004g0007 a0007c0020t0004g0018	2	130	0.0154	250	c.261 others(269): Show c.2619-3533_2619-3532insGCCCCAATCTGTGCAACCTCCCACTC TACCCCCCACTGTGTGCAACCCCCCAAAATCCCCCCACTGTGTGCATCCT CCTCAAATCACTATTGTGTGAAACCTCCCCAAATCCCCCCCACTGTGTGC AACCTCCCCAATTCCCCACCACTGTGTGCAACCTCCTCAAATCCCCCCAC TGTGTGCAACCACCCCAAACCCCCCACAGTTTGAAACCTCCCCAAATCCC TGCCACTGTGTGCAACTTCAATTC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTATCTAC others(243): Show GTATCTACATGTGTACACATGTGTATACGTATACATGTGTACACATGTGT ATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACATGT GTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACACAT GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTATGTATGTGTATATATGTAT A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02523.hp2 HG04115.hp1 others(1): Show HG01516.hp2 HG02523.hp2 HG04115.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0037 a0001c0001t0001 a0001c0001t0037	a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(1): Show a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0037g0189	4	388	0.0103	250	c.-23 others(267): Show c.-23+2460_-23+2461insTATACATATATACACATACATACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACACATG TGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACACA TGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATACA CATGTGTACACATGTATACGTATACACATGTGTACACATGTATACGTATA CACATGTGTACACATGTAGATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(243): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA TATACACGTATATATATATATATATATACGTGTATATATACACGTATATA TATATATATACGTGTATATATACACGTATATATATATATATATACGTGTA TATATACACGTATATATATATATATACGTGTATATATATATATATACGTG TATATATACACGTATATATATATATATACGTGTATATATATACGTGTATA T	intron_variant intron_variant	MODIFIER	HG01257.hp1 NA20752.hp2 HG01257.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0005 a0001c0002t0001g0007	2	268	0.0075	250	c.252 others(269): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAT ACGTGTATATATACACGTATATATATATATATACGTGTATATATACACGT ATATATATATATATATACGTGTATATATACACGTATATATATATATATAC GTGTATATATATATATATACGTGTATATATACACGTATATATATATATAT ACGTGTATATATATACGTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TUNAR_chr14_95871832_95930571	95927755	G G	GTCCCTCT others(243): Show GTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC ATCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCTCTCTCCCTCTCCCTCT CCCTCTGTCCCTCTCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCC A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18951.hp1 NA18974.hp1 NA18612.hp1 NA18951.hp1 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0044 a0001c0001t0003 a0002c0002t0044	a0001c0001t0003g0069 a0001c0001t0003g0119 a0002c0002t0044g0215 a0001c0001t0003g0069 a0001c0001t0003g0119 a0002c0002t0044g0215	3	338	0.0089	250	c.47 others(261): Show c.4789_*4790insTCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCATCCCTCTCTCCCTCTCCCTCTCCCTCCGTCCCTC TCTCCCTCTCCCTCTCCCTCTGTCCCTCTCTCCCTCTCCCTCCATCCCTC TCTCCCTCTCCCTCCA	TUNAR	ENSG00000250366.4	transcript	ENST00000503525.3	protein_coding		2185		chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870803	A A	ACACCCCA others(243): Show ACACCCCACACACACCACACCCCACACACCCCACACACACCACACACCCC CACACACACCACACACACCACACACCCCCACACACACCACACACACCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACACCACACCCCACACACACCACACACACCACAGCCCACACA CACCACACACACCACACCCCACACACACCACACACACCACACCCCACACA C	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	338	0.0030	250	c.35 others(269): Show c.35+22070_*35+22071insCACCCCACACACACCACACCCCACAC ACCCCACACACACCACACACCCCCACACACACCACACACACCACACACCC CCACACACACCACACACACCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACACACCACACCCCACACACA CCACACACACCACAGCCCACACACACCACACACACCACACCCCACACACA CCACACACACCACACCCCACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(243): Show TATATACACAAGTGTGTATATACGCATACACACATATATGTGTGTGTATA CGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGTG TGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	320	0.0031	250	c.-38 others(261): Show c.-3848_-3847insATATACACAAGTGTGTATATACGCATACACACAT ATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATAC ACACACATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UMAD1_chr7_7635752_7884223	7679474	T T	TTATATAT others(243): Show TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATA TATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATT TATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTT A	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0233 a0001c0001t0029g0233	1	250	0.0040	250	c.82+ others(265): Show c.82+6026_82+6027insATTTAATTTATAGATAAATATATATTTATA TATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAA TATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAA TTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATAT TTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAG ATAAATATATATTTATATAT	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMODL1_chr21_42066317_42147996	42078347	C C	CGGGCCAG others(243): Show CGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAGCCAGGT GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAACAGAAACCAGGC GGGGCCAGCTGACCCCAGAGCAACACCTCCATCACCAATAGAAACCAGGC G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0062 a0062	a0062c0066 a0062c0066	a0062c0066t0001 a0062c0066t0001	a0062c0066t0001g0182 a0062c0066t0001g0182	1	400	0.0025	250	c.319 others(267): Show c.319+2243_319+2492dupGCCAGGTGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAATAGAAACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAAACCAGGCGGGGCCAGCTGACCCCAGAGC AACACCTCCATCACCAACAGAA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC5B_chr10_71207570_71307864	71296783	A A	ACTGGCGG others(243): Show ACTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC G	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0291 a0001c0003t0002g0291	1	368	0.0027	250	c.249 others(267): Show c.2490+212_2490+213insTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGGTGGGGCAGATATTCCAGCTGCACACCAC GCTGGCGGAGGTGAGGGAAGGG	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UROC1_chr3_126476166_126522773	126516130	C C	CCCCCACC others(243): Show CCCCCACCCCCAGCACCCACCACCTACCCTCCCCCTCATCTGCCCAGCAC CCACCACCTACCCTCTCCCCAACCCCCAGTGCCCACCACCTACCCTCCCC CCACCCCCAGCACCCAACACTTACCCTCCCCCACCCCCAACACCCACCAC CTACCCTCCCTTGTCCCCCAGCACCTGACACCTACCCTCTCCGCCCCCCA ATGTCCACCACCTACCCTCACTGTCTCCAAGTGCCTGTCATCTACCCTCC T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0174 a0001c0001t0002g0174	1	380	0.0026	250	c.126 others(267): Show c.126+1463_126+1464insAGGAGGGTAGATGACAGGCACTTGGAGA CAGTGAGGGTAGGTGGTGGACATTGGGGGGCGGAGAGGGTAGGTGTCAGG TGCTGGGGGACAAGGGAGGGTAGGTGGTGGGTGTTGGGGGTGGGGGAGGG TAAGTGTTGGGTGCTGGGGGTGGGGGGAGGGTAGGTGGTGGGCACTGGGG GTTGGGGAGAGGGTAGGTGGTGGGTGCTGGGCAGATGAGGGGGAGGGTAG GTGGTGGGTGCTGGGGGTGGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
VCX_chrX_7838171_7849143	7844261	G G	GGTGGTGT others(243): Show GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGCGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	341	0.0029	250	c.24 others(259): Show c.245_*246insGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAG GGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAA	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		119		chrX	TogoVar

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