Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPAAR_chr9_35904490_35916686	35906586	T T	TCCACCAC others(185): Show TCCACCACCACCACCACCACCACCCCCACCGCCACCATCCCCCTCACCAC CACCACCACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA CCACCACCACCACCACCACCACCGCCACCATCCCCCTCACCACCACCACC ACCACCACCACCACCACCCCCACCACACCCCTCACCACCTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	305	0.0033	192	c.-32 others(203): Show c.-3286_-3285insCCACCACCACCACCACCACCACCCCCACCGCCAC CATCCCCCTCACCACCACCACCACCACCACCACCACCACCCCCACCACAC CCCTCACCACCTCCACCACCACCACCACCACCACCACCGCCACCATCCCC CTCACCACCACCACCACCACCACCACCACCACCCCCACCACACCCCTCAC CACCTCCA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2903		chr9	TogoVar
SRXN1_chr20_641615_658200	642068	G G	GGGGGGGG others(185): Show GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	400	0.0025	192	c.66 others(203): Show c.6645_*6646insGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACA GGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGG GCACCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGG GCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4546		chr20	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77016220	A A	ATCTCCTC others(185): Show ATCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTAT CTCCTCCCCCTCCTCCTCCTGTGTCTCCTCCCCCTCATCCTCCTGTGTCT CCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCTGTATCTCC TCCCCCTCATCCTCCTGTGTCTCCTCCCCCTCATCCTCCTGTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0191 a0002c0006t0010g0192 a0002c0006t0010g0191 a0002c0006t0010g0192	2	196	0.0102	192	c.262 others(211): Show c.262-27923_262-27922insCTCCTCCTGTGTCTCCTCCCCCTCAT CCTCCTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCC TCCTGTATCTCCTCCCCCTCATCCTCCTGTGTCTCCTCCCCCTCATCCTC CTGTGTCTCCTCCCCCTCCTCCTCCTGTATCTCCTCCCCCTCCTCCTCCT GTATCTCCTCCCCCTC	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
STK32C_chr10_132202492_132312950	132250313	A A	AGAGAGGG others(185): Show AGAGAGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAGG AGAGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAGGAG AGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAGGAGAG GGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01952.hp2 HG02886.hp1 others(3): Show HG01261.hp2 HG01952.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0024 a0001c0001 a0001c0003 a0001c0024	a0001c0001t0001 a0001c0003t0002 a0001c0024t0001 a0001c0001t0001 a0001c0003t0002 a0001c0024t0001	a0001c0001t0001g0037 a0001c0001t0001g0129 a0001c0001t0001g0130 others(3): Show a0001c0001t0001g0037 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0003t0002g0255 a0001c0024t0001g0358	6	216	0.0278	192	c.263 others(209): Show c.263-4550_263-4359dupCTCTCTGCAGTGACCTGTCCCGTGCGCC TCACACACACCTGCCCTCTCCTCTCTGCAGTGACCTGTCCCGTGCGCCTC ACACACACCTGCCCTCTCCTCTCTGCAGTGACCTGTCCCGTGCGCCTCAC ACACACCTGCCCTCTCCTCTCTGCAGTGACCTGTCCCGTGCGCCTCACAC ACACCTGCCCTCTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(185): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGGCCCCTGCCCG CTCCGAGCTCCGCCCTGGCCCCGCCCCCGCCCAGTGCCCCGCCCCCTGAC TGCTGCTAGCCCTGCCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCC CCGGCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	41	0.0244	192	c.483 others(205): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGGGGCGGGGGCAG GGCTAGCAGCAGTCAGGGGGCGGGGCACTGGGCGGGGGCGGGGCCAGGGC GGAGCTCGGAGCGGGCAGGGGCCGGGGCGGAGCTCGGAGCGGGCAGGGGC CGGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
SYK_chr9_90796819_90903549	90884217	G G	GCATACAC others(185): Show GCATACACATACGTGTATATATACACGCATACACATACGTGTATATATAC ACGCATACACATACGTGTATATATACACGCATACACATACGTGTATATAT ACACGCATACACATACGTGTATATATACACGCATATACACATACACATAC GTGTATATATACACATACACATACACATACGTGTATATACACA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03486.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0037 a0001c0008t0039 a0001c0008t0037 a0001c0008t0039	a0001c0008t0037g0067 a0001c0008t0039g0062 a0001c0008t0037g0067 a0001c0008t0039g0062	2	291	0.0069	192	c.158 others(211): Show c.1582-3528_1582-3527insCACATACGTGTATATATACACGCATA CACATACGTGTATATATACACGCATACACATACGTGTATATATACACGCA TACACATACGTGTATATATACACGCATACACATACGTGTATATATACACG CATATACACATACACATACGTGTATATATACACATACACATACACATACG TGTATATACACACATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYNPR_chr3_63273308_63621924	63313772	T T	TATATATA others(185): Show TATATATATATCCATATATATATATCCATATATATATATCCATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATCCATATATATATATCCATATATATATCCATATATATATCCATATATA TATCCATATATATATATCCATATATATATCGATATATATATCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0102 a0001c0001t0008g0102	1	192	0.0052	192	c.84+ others(209): Show c.84+35066_84+35067insATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATCCATATATATATCCATATATATAT ATCCATATATATATCCATATATATATCCATATATATATCCATATATATAT ATCCATATATATATCGATATATATATCCATATATATATCCATATATATAT ATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63314006	C C	CATATATA others(185): Show CATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATCCATATATATATATATCCATATATATATCCATA TATATATATATCCATATATATATCCATATATATATATATCCAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0111 a0001c0001t0017g0111	1	158	0.0063	192	c.84+ others(209): Show c.84+35288_84+35289insCCATATATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATCCATATATATATATATCCATATATATATCCATATAT ATATATATCCATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(185): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	111	0.0090	192	c.-23 others(211): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCT AATTTTTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TARBP1_chr1_234386313_234484179	234397780	C C	CAGGGGAA others(185): Show CAGGGGAAGAGGGGGAGAAGGGGAGGGGGAGGAGGTGGGGGAAGAGGGGG AGGGGGGAGGGGGAAGGGGGAGGAGGGGGAGGGGGAAGAGGGGAAGAAGG GGGAGGGGAAGGAGGGGGAAAGAGGGTGAAGAGGGAGGGGAGGGGAGGAG GGAGGGGAGGGGGTAGAGGGAGGGGATGGGAGGAGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0191 a0007c0008t0001g0191	1	265	0.0038	192	c.424 others(209): Show c.4243+601_4243+602insTCCCCTCCCTCCTCCCATCCCCTCCCTC TACCCCCTCCCCTCCCTCCTCCCCTCCCCTCCCTCTTCACCCTCTTTCCC CCTCCTTCCCCTCCCCCTTCTTCCCCTCTTCCCCCTCCCCCTCCTCCCCC TTCCCCCTCCCCCCTCCCCCTCTTCCCCCACCTCCTCCCCCTCCCCTTCT CCCCCTCTTCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TARBP1_chr1_234386313_234484179	234397802	G G	GAGGGGAG others(185): Show GAGGGGAGGAGGTGGGGGAAGAGGGGGAGGGGGGAGGGGGAAGGGGAGGA GGGGGAGGGGGAAGAGGGGAAGAAGGGGGAGGGGAAGGAGGGGGAAAGAG GGTGAAGAGGGAGGGGAGGGGAGGAGGGAGGGGAGGGGGTAGAGGGAGGG GATGGGAGGAGGGAGGGGAGGGGGAAGAGGGGGAGGAGGTGGA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0127 a0001c0007t0001g0127	1	148	0.0068	192	c.424 others(209): Show c.4243+579_4243+580insTCCACCTCCTCCCCCTCTTCCCCCTCCC CTCCCTCCTCCCATCCCCTCCCTCTACCCCCTCCCCTCCCTCCTCCCCTC CCCTCCCTCTTCACCCTCTTTCCCCCTCCTTCCCCTCCCCCTTCTTCCCC TCTTCCCCCTCCCCCTCCTCCCCTTCCCCCTCCCCCCTCCCCCTCTTCCC CCACCTCCTCCCCT	TARBP1	ENSG00000059588.10	transcript	ENST00000040877.2	protein_coding	26/29			chr1	TogoVar
TBC1D16_chr17_79927343_80040872	79929984	C C	CCCTCTCC others(185): Show CCCTCTCCTCCCCTCCCTCCTCCCCTCTCCTCCCCTCCCCTCTCCTCTCC TCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCTCCTCTCCTCCCCTCCCC TCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0107 a0001c0001t0034g0107	1	110	0.0091	192	c.10 others(205): Show c.10874_*10875insAGAGGGGAGAGGAGGGGAGGAGAGGGGAGAGG AGGGGAGAGGAGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGAG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGAGGGG AGGGGAGGGGAGGAGAGGAGAGGGGAGGGGAGGAGAGGGGAGGAGGGAGG GGAGGAGAGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2358		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992851	C C	CCCCCCCC others(185): Show CCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCA CTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCCACTCCCCCCCACTC CCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCC CCCCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0172 a0001c0001t0004g0172	1	249	0.0040	192	c.53 others(203): Show c.5308_*5309insAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGG GGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGG GAGTGGGGGGAGTGGGGGGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTG GGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAG TGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2133		chr15	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(185): Show TCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	221	0.0045	192	c.451 others(209): Show c.451-2705_451-2704insGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(185): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG03688.hp1 others(1): Show HG01168.hp1 HG01169.hp2 HG03688.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0077	4	130	0.0308	192	c.451 others(209): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(185): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTC CATCTACAGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	127	0.0079	192	c.451 others(209): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCTACAGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(185): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	127	0.0079	192	c.451 others(209): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950664	A A	ACCCTCCA others(185): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCCCCTCGC CCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGATCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	127	0.0079	192	c.451 others(209): Show c.451-2664_451-2663insTCCCCTCGCCCTCCATCTACGGGATCCC CTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950667	C C	CTCCATCT others(185): Show CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 HG02735.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0001g0220 a0001c0001t0001g0230	2	256	0.0078	192	c.451 others(209): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950801	C C	CCCCCTCG others(185): Show CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACAGGATCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACAGGACCCCCT CGCCCTCCATCTACAGGACCCCCTCGCCCTCCATCTACGGGAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	268	0.0037	192	c.451 others(209): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACAGGATCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACAGGACCCCCTCGCCCTCCATCTACAGGACCCCCTCGCCCTCCATCTAC GGGATCCCCTCGCC	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TERT_chr5_1248167_1300068	1272940	C C	CACGACCG others(185): Show CACGACCGCCATCCACAGTCACATCAGACCCCACAACCGCCATCCACAGT CACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02273.hp2 HG01169.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0284 a0001c0003t0001g0342 a0001c0003t0001g0284 a0001c0003t0001g0342	2	107	0.0187	192	c.228 others(209): Show c.2287-661_2287-660insTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTG TGGGGGTCTGATGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGACTG TGGATGGCGGTCGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX30_chr13_102760888_102778786	102776099	A A	ACATATAT others(185): Show ACATATATATGATATGTATGTATATACATATATATGTATATGTATATACA TATATATGATATGTATGTATATACATATATATGTATATGTATATACATAT ATATGTATGTATATACATATATATGTATATGTAGATACATACATATGATA TGTATGTATATACATATATATGTATATGTATATACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	227	0.0088	192	c.-24 others(203): Show c.-2479_-2478insATATATATGTATATACATATACATATATATGTAT ATACATACATATCATATGTATGTATCTACATATACATATATATGTATATA CATACATATATATGTATATACATATACATATATATGTATATACATACATA TCATATATATGTATATACATATACATATATATGTATATACATACATATCA TATATATG	TEX30	ENSG00000151287.17	transcript	ENST00000376032.9	protein_coding		2314		chr13	TogoVar
TFDP1_chr13_113579753_113646473	113625062	T T	TGTCTCTC others(185): Show TGTCTCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACTTGTCCTC AGCTGTTTCTCAGGTGTCTCTCACATGTCCCCAGGTGTCTCTCAGGGTAT CTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCAGGTGTTTCTCAGG TGTCTCTCACGTGTCCTCAGGTGTCTCTCACTTGTCCTCAGGC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02572.hp1 others(8): Show HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02647.hp1 HG02965.hp1 HG03130.hp1 NA18522.hp2 NA18957.hp1 NA18980.hp1 NA19060.hp1 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0036 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0049	11	346	0.0318	192	c.186 others(209): Show c.186+1784_186+1785insGGTGTCTCTCACGTGTCCTCAGGTGTCT CTCACTTGTCCTCAGCTGTTTCTCAGGTGTCTCTCACATGTCCCCAGGTG TCTCTCAGGGTATCTCTCACATGTCCTCAGGTGTCTCTCACGTGTCCTCA GGTGTTTCTCAGGTGTCTCTCACGTGTCCTCAGGTGTCTCTCACTTGTCC TCAGGCGTCTCTCA	TFDP1	ENSG00000198176.13	transcript	ENST00000375370.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
THEG_chr19_356747_381026	360563	A A	AGCTGGTT others(185): Show AGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCC TCAGCAGGAGCATCAGCTGGTTTGACTGTGGCTGTCATTCTGACTCTGAT GGTCCCGTGGGCTCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTC ATTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 NA19030.hp1 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0031 a0001c0001t0026 a0001c0001t0031	a0001c0001t0026g0122 a0001c0001t0031g0251 a0001c0001t0026g0122 a0001c0001t0031g0251	2	338	0.0059	192	c.16 others(203): Show c.1636_*1637insCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGG AGTCGGAATGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGAGCC CACGGGACCATCAGAGTCAGAATGACAGCCACAGTCAAACCAGCTGATGC TCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTC AAACCAGC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1183		chr19	TogoVar
THEG_chr19_356747_381026	360585	G G	GTTCCAAC others(185): Show GTTCCAACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTT TGACTGTGGCTGTCATTCTGACTCTGATGGTCCCGTGGGCTCTCAGCAGG AGCGTCGGCTGGTTTGACTGTGGCTGTCATTCCGACTCCGACGGTCCCGT GGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0110 a0001c0001t0007g0110	1	365	0.0027	192	c.16 others(203): Show c.1614_*1615insCGACAGCCACAGTCAAACCAGCCGACGCTCCTGC TGAGGGGCCACGGGACCGTCGGAGTCGGAATGACAGCCACAGTCAAACCA GCCGACGCTCCTGCTGAGAGCCCACGGGACCATCAGAGTCAGAATGACAG CCACAGTCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGGACCGTCGG AGTTGGAA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1161		chr19	TogoVar
THEG_chr19_356747_381026	360846	T T	TACTCCGA others(185): Show TACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCATCGGCTGGTTTGACT GTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGGCTCTCAGGAGGAGCGT CGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCC CTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	325	0.0031	192	c.13 others(203): Show c.1353_*1354insCGGAACGACAGCCACAGTCAAAGCAGCCGACGCT CCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCA AACCAGCCGACGCTCCTCCTGAGAGCCCACGGGACCGTCGGAGTCGGAAC GACAGCCACAGTCAAACCAGCCGATGCTCCTGCTGAGGGGCCACGGGACC GTCGGAGT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		900		chr19	TogoVar
THEG_chr19_356747_381026	360944	G G	GTCGGCTG others(185): Show GTCGGCTGGTTTGACTGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGC CCCTCAGCAAGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCC GACGGTCCCGTGGGCTCTCAGGAGGAGCGTCGGCTGGTTTGACTGTGGCT GTCGTTCCTACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG02300.hp1 NA18906.hp2 HG00738.hp1 HG02300.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0167 a0001c0001t0001g0177 a0001c0001t0001g0013 a0001c0001t0001g0167 a0001c0001t0001g0177	3	340	0.0088	192	c.12 others(203): Show c.1255_*1256insTGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGT AGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTCCTGAGAGCCCAC GGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCGATGCTCT TGCTGAGGGGCCACGGGACCGTCGGAGTAGGAACGACAGCCACAGTCAAA CCAGCCGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		802		chr19	TogoVar
THEG_chr19_356747_381026	361070	G G	GCGTCGGC others(185): Show GCGTCGGCTGCTTTGACTGTGGCTGTCGTTCCGACTCTGACGGTCCCGTG GCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTCCGACT CTGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGG CTGTCGTTCCGACTCTGACGGTCCCGTGGGCTCTCAGCAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0251 a0001c0001t0031g0251	1	368	0.0027	192	c.11 others(203): Show c.1129_*1130insTTCCTGCTGAGAGCCCACGGGACCGTCAGAGTCG GAACGACAGCCACAGTCAAAGCAGCCGACGCTCCTGCTGAGGGGCCACGG GACCGTCAGAGTCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTG CTGAGGGGCCACGGGACCGTCAGAGTCGGAACGACAGCCACAGTCAAAGC AGCCGACG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		676		chr19	TogoVar
THEG_chr19_356747_381026	361080	G G	GTTTGACT others(185): Show GTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGC AGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTCC CGTGGCCCCTCAGCAGGAGCGTCGGCTGCTTTGACTGTGGCTGTCGTTCC GACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0168 a0001c0001t0039g0168	1	358	0.0028	192	c.11 others(203): Show c.1119_*1120insGCAGCCGACGCTCCTGCTGAGGGGCCACGGGACC GTCGGAGTCGGAACGACAGCCACAGTCAAAGCAGCCGACGCTCCTGCTGA GGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCC GATGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGGAACGACAGCCA CAGTCAAA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		666		chr19	TogoVar
THEG_chr19_356747_381026	361129	C C	CAGGAGCA others(185): Show CAGGAGCATCGGCTGGTTTGACTGTGGCTGTCGTTCCGACTCCGACGGTC CCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCGTTC CGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCTGGTTTGAC TGTGGCTGTCGTTCCTACTCCGACGGTCCCGTGGGCCCTCAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 NA18522.hp2 HG02622.hp2 NA18522.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0014 a0004c0005t0018 a0001c0001t0014 a0004c0005t0018	a0001c0001t0014g0012 a0004c0005t0018g0041 a0001c0001t0014g0012 a0004c0005t0018g0041	2	353	0.0057	192	c.10 others(203): Show c.1070_*1071insCCTGAGGGCCCACGGGACCGTCGGAGTAGGAACG ACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCG TCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCGACGCTCCTGCTGAG GGGCCACGGGACCGTCGGAGTCGGAACGACAGCCACAGTCAAACCAGCCG ATGCTCCT	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		617		chr19	TogoVar
THEG_chr19_356747_381026	361747	C C	CGACGGTC others(185): Show CGACGGTCCCGTGGCCCCTCAGCAGGAGCATCAGCTGGTTTGACTGTGGC TGTCGTTCCGACTCCGACGGTCCCGTGGCCCCTCAGCAGGAGCGTCGGCT GGTTTGACTGTGGCTATCGTTCCGACTCTGACGGTCCCGTGGCCCCTCAG CAGGAGCGTCGGCTGGTTTGACTGTGGCTGTCATTCCGACTCT	splice_region_variant splice_region_variant	LOW	HG02486.hp1 HG02717.hp2 HG03225.hp1 HG02486.hp1 HG02717.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0024 a0001c0001t0007 a0001c0001t0024	a0001c0001t0007g0090 a0001c0001t0007g0110 a0001c0001t0024g0116 a0001c0001t0007g0090 a0001c0001t0007g0110 a0001c0001t0024g0116	3	341	0.0088	192	c.45 others(201): Show c.452_*453insAGAGTCGGAATGACAGCCACAGTCAAACCAGCCGAC GCTCCTGCTGAGGGGCCACGGGACCGTCAGAGTCGGAACGATAGCCACAG TCAAACCAGCCGACGCTCCTGCTGAGGGGCCACGGGACCGTCGGAGTCGG AACGACAGCCACAGTCAAACCAGCTGATGCTCCTGCTGAGGGGCCACGGG ACCGTC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding	8/8			chr19	TogoVar
THEG_chr19_356747_381026	376951	C C	CCCCCGTG others(185): Show CCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGC CTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	221	0.0045	192	c.-98 others(201): Show c.-982_-981insAGGGGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGG GGGAGAGGCTGGGTGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		926		chr19	TogoVar
THEMIS_chr6_127703200_127906058	127746921	A A	ATTATTAT others(185): Show ATTATTATATAATTATATTATATATAATTATATATTATTATATAATTATA TTATATATAATTATATATTATTATATAATTATATTATATATAATTATATA TTATTATATAATTATATTATATATAATTATATATTATTATATAATTATAT TATATATAATTATATATTATTATATAATTATATTATATATAAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	211	0.0047	192	c.175 others(213): Show c.1759-27099_1759-27098insATTATATATAATATAATTATATAA TAATATATAATTATATATAATATAATTATATAATAATATATAATTATATA TAATATAATTATATAATAATATATAATTATATATAATATAATTATATAAT AATATATAATTATATATAATATAATTATATAATAATATATAATTATATAT AATATAATTATATAATAA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
THOC1_chr18_209520_273047	219172	C C	CAAAAATA others(185): Show CAAAAATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATA AAGTGGTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACAAA ATAACCAGTGAGGATGGCATATACTCTTAATAATAAATACTCATAAAGTG GTGGCAGGACAAGATTGTGGGCATGTGTTCCCTGAGCGGTACA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp2 HG02559.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	23	0.0870	192	c.137 others(209): Show c.1371-204_1371-203insTGTACCGCTCAGGGAACACATGCCCACA ATCTTGTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCC ATCCTCACTGGTTATTTTGTACCGCTCAGGGAACACATGCCCACAATCTT GTCCTGCCACCACTTTATGAGTATTTATTATTAAGAGTATATGCCATCCT CACTGGTTATTTTT	THOC1	ENSG00000079134.13	transcript	ENST00000261600.11	protein_coding	17/20			chr18	TogoVar
THSD7B_chr2_136760545_137682718	137303660	G G	GTTTATAT others(185): Show GTTTATATATATATTTATTTCTATATATATTTCTATATATATTTATATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATTT ATATATATTTATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0006 a0003c0002t0006	a0003c0002t0006g0066 a0003c0002t0006g0066	1	87	0.0115	192	c.250 others(213): Show c.2500+27645_2500+27646insATTTATTTCTATATATATTTCTAT ATATATTTATATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATTTATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATAT	THSD7B	ENSG00000144229.13	transcript	ENST00000409968.6	protein_coding	12/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
TIMM22_chr17_992129_1008671	993519	C C	CCCTCACG others(185): Show CCCTCACGTAATCCACCCTCACGTAATCCACCTCACATAATCCACCCACC CTCACATAATCCACCTCACATAATCCACCTCACATAATCCACCCTCACAT AATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCCAC CTCACATAATCCACCCTCACATAATCCACCCTCACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0011 a0001c0001t0010g0011	1	267	0.0037	192	c.-36 others(203): Show c.-3624_-3623insCCTCACGTAATCCACCCTCACGTAATCCACCTCA CATAATCCACCCACCCTCACATAATCCACCTCACATAATCCACCTCACAT AATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCA CCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTCAC ATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3609		chr17	TogoVar
TMEM117_chr12_43831081_44394758	44027186	T T	TTTATTTT others(185): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTATTTTATTTTATT TTATTTTATTTTATTTTATATTTTATTTTATTTTTTATTTTATTTTATTT TATTTTTTATTTTATTTTATTTTATTTTATTTTATTTTTTATGTTATGTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02965.hp2 HG03209.hp1 others(1): Show HG01192.hp2 HG02965.hp2 HG03209.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0002g0015 a0001c0001t0002g0055 others(1): Show a0001c0001t0001g0012 a0001c0001t0002g0015 a0001c0001t0002g0055 a0001c0001t0002g0056	4	82	0.0488	192	c.410 others(211): Show c.410+82857_410+82858insTTTTATTTTATTTTATTTTATTTATT TTATTTTATTTTATTTTATTTTATTTTATATTTTATTTTATTTTTTATTT TATTTTATTTTATTTTTTATTTTATTTTATTTTATTTTATTTTATTTTTT ATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTT ATGTTATTTTATTTTA	TMEM117	ENSG00000139173.10	transcript	ENST00000266534.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125494565	A A	AAATGGCT others(185): Show AAATGGCTGCATCCCTCCTCCCCCTCCTCCCTGGAAATGGCCACGCCCCT CCTCCCCCTCCTCACTGGAAAAGGATGCGTCCCTCCGCCCCCTCCTCCCT GGAAATGGGCACCTCCCTCCTCCCCTAAAATGGATGCATGCCTCCTCCCC CTTCTCCCTGGAAATGGGCGCGTCCCTTCTCCCCCTCCTCCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0070 a0001c0004t0005g0070	1	128	0.0078	192	c.110 others(213): Show c.1107-24873_1107-24872insATGGCTGCATCCCTCCTCCCCCTC CTCCCTGGAAATGGCCACGCCCCTCCTCCCCCTCCTCACTGGAAAAGGAT GCGTCCCTCCGCCCCCTCCTCCCTGGAAATGGGCACCTCCCTCCTCCCCT AAAATGGATGCATGCCTCCTCCCCCTTCTCCCTGGAAATGGGCGCGTCCC TTCTCCCCCTCCTCCCCA	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134608965	G G	GACAGACC others(185): Show GACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCAAGAACTGT GCTGGTGAAAAGGAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCAAGAACTGTG CTGGTGAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	207	0.0048	192	c.323 others(211): Show c.323-56875_323-56874insTTTCACCAGCACAGTTCTCGGGGTCT GTCCTCCTTTTCACCAGCACAGTTCTTGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTG TCCTCCTTTTCACCAGCACAGTTCTTGGGGTCTGTCCTTTTCACCAGCAC AGTTCTCGGGGTCTGT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM207_chr3_190423655_190454901	190439033	C C	CGGGCGCG others(185): Show CGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTG TGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAGCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0062 a0002c0002t0007g0062	1	463	0.0022	192	c.304 others(209): Show c.304+1210_304+1211insAGCTAATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCACAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCC	TMEM207	ENSG00000198398.3	transcript	ENST00000354905.3	protein_coding	4/4			chr3	TogoVar
TMEM65_chr8_124301189_124377701	124302436	T T	TATATATA others(185): Show TATATATATATAAATATATATTCTTTTATATATATATAAATATATATTCT TTTATATATATATAAATATATATTCTTTTATATATATATAAATATATATT CTTTTATATATATATAAATATATATTCTTTTATATATATAAATATATATT CTTTTATATATATATAAATATATATTCTTTTATATATATATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02723.hp1 HG03516.hp2 others(1): Show HG01109.hp2 HG02723.hp1 HG03516.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0021 a0001c0001t0019 a0001c0001t0021	a0001c0001t0019g0155 a0001c0001t0019g0156 a0001c0001t0019g0157 others(1): Show a0001c0001t0019g0155 a0001c0001t0019g0156 a0001c0001t0019g0157 a0001c0001t0021g0219	4	312	0.0128	192	c.11 others(205): Show c.11523_*11524insTTATATATATATAAAAGAATATATATTTATAT ATATATAAAAGAATATATATTTATATATATAAAAGAATATATATTTATAT ATATATAAAAGAATATATATTTATATATATATAAAAGAATATATATTTAT ATATATATAAAAGAATATATATTTATATATATATAAAAGAATATATATTT ATATATATAT	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3752		chr8	TogoVar
TNNI3_chr19_55146767_55162732	55147410	G G	GGCTGGGG others(185): Show GGCTGGGGCCTGGACTTCTGGGTCTGAGGGAGGAGGGACTGGGGTCCTGA ACTCCTGGATCTGAGGGAGGAGGGGCTGGGGGCCGGATTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGGTGTGTGGGAGGGTGGGTGTGGACTCCTGAGA CTGAGATGGGTTGTCCTGGACACCTGGGTCTGAGGGAGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	386	0.0026	192	c.44 others(203): Show c.4423_*4424insTCCTCCTCCCTCAGACCCAGGTGTCCAGGACAAC CCATCTCAGTCTCAGGAGTCCACACCCACCCTCCCACACACCCCCCAGCC CCTCCTCCCTCAGACCCAGGAATCCGGCCCCCAGCCCCTCCTCCCTCAGA TCCAGGAGTTCAGGACCCCAGTCCCTCCTCCCTCAGACCCAGAAGTCCAG GCCCCAGC	TNNI3	ENSG00000129991.13	transcript	ENST00000344887.10	protein_coding		4356		chr19	TogoVar
TNNT1_chr19_55127698_55154206	55147410	G G	GGCTGGGG others(185): Show GGCTGGGGCCTGGACTTCTGGGTCTGAGGGAGGAGGGACTGGGGTCCTGA ACTCCTGGATCTGAGGGAGGAGGGGCTGGGGGCCGGATTCCTGGGTCTGA GGGAGGAGGGGCTGGGGGGTGTGTGGGAGGGTGGGTGTGGACTCCTGAGA CTGAGATGGGTTGTCCTGGACACCTGGGTCTGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0077 a0002c0002t0001g0077	1	318	0.0031	192	c.-11 others(207): Show c.-11-243_-11-242insTCCTCCTCCCTCAGACCCAGGTGTCCAGGA CAACCCATCTCAGTCTCAGGAGTCCACACCCACCCTCCCACACACCCCCC AGCCCCTCCTCCCTCAGACCCAGGAATCCGGCCCCCAGCCCCTCCTCCCT CAGATCCAGGAGTTCAGGACCCCAGTCCCTCCTCCCTCAGACCCAGAAGT CCAGGCCCCAGC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	1/13			chr19	TogoVar
TPCN2_chr11_69043932_69095597	69069079	C C	CGCAGTGG others(185): Show CGCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCACTGGGAG CAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACCGTCT GAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTGTCTGAGTCCTAGGA AGTGACCGCAGTGGGAGCAGGACTCTCTGAGTCCTAGGAAGTG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0019 a0004c0024t0019	a0004c0024t0019g0261 a0004c0024t0019g0261	1	386	0.0026	192	c.830 others(209): Show c.830-1351_830-1350insGCAGTGGGAGCAGGACCGTCTGAGTCCT AGGAAGTGACCGCACTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACC GCAGTGGGAGCAGGACCGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGC AGGACTGTCTGAGTCCTAGGAAGTGACCGCAGTGGGAGCAGGACTCTCTG AGTCCTAGGAAGTG	TPCN2	ENSG00000162341.18	transcript	ENST00000294309.8	protein_coding	8/24			chr11	TogoVar
TPK1_chr7_144446941_144841053	144488557	A A	AGAGGCAC others(185): Show AGAGGCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGG AGGCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAG GCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGC ACACACATGGGTGCACCCACATGCACACACACACGTGCACGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 HG03225.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0104 a0001c0001t0001g0036 a0001c0001t0001g0104	2	72	0.0278	192	c.614 others(211): Show c.614-35086_614-34895dupCACGTGCACGTGTGTGTGTGCATGTG GGTGCACCCATGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGG TGCACCCATGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTG CACCCATGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTGCA CCCATGTGTGTGCCTC	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	8/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATACAT others(185): Show GTATACATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT ATCTACATGTATACATGTATATATGTATACATGTGTATACATGTATGTAT GTGTATATATGTATACATGTATGTGTATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03453.hp1 HG03486.hp1 HG02886.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0256 a0001c0001t0005g0037 a0001c0001t0005g0256	3	183	0.0164	192	c.-23 others(209): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATG TATACATATATACACATACATACATGTATACACATGTATACATATATACA TGTATACATGTAGATACGTATATATACATATATACATGTATATATACGTG TATACACGTATATATACATATATACATGTATATATACGTGTATACACGTA TATATACATGTATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(185): Show GTATATATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT ATCTACATGTATACATGTATATATGTATACATGTGTATACATGTATGTAT GTGTATATATGTATACATGTATGTGTATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03688.hp1 NA18612.hp1 others(1): Show HG02970.hp1 HG03688.hp1 NA18612.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0043 a0001c0001t0003 a0001c0001t0043	a0001c0001t0003g0036 a0001c0001t0003g0245 a0001c0001t0043g0269 a0001c0001t0003g0036 a0001c0001t0003g0245 a0001c0001t0043g0269	4	184	0.0217	192	c.-23 others(209): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATG TATACATATATACACATACATACATGTATACACATGTATACATATATACA TGTATACATGTAGATACGTATATATACATATATACATGTATATATACGTG TATACACGTATATATACATATATACATGTATATATACGTGTATACACGTA TATATACATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(185): Show GTATATATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT GTATACATGTATACATGTATATATGTATACATGTGTATACATGTATGTAT GTGTATATATGTATACATGTATGTGTATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0258	1	181	0.0055	192	c.-23 others(209): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATG TATACATATATACACATACATACATGTATACACATGTATACATATATACA TGTATACATGTATACACGTATATATACATATATACATGTATATATACGTG TATACACGTATATATACATATATACATGTATATATACGTGTATACACGTA TATATACATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM28_chr19_58539064_58555715	58539595	T T	TCTCCCCC others(185): Show TCTCCCCCCACACACCCTGCTTCCCTCAGACAGGATTCTCCCCACACACA CTCTGCTTCCCTCCTCAGACAGGATTCTCCCCACACAGAACCTGCTTCCC TCCTCAGACAGGATTCTCCCCACAAACACCCTGCTTCCCTCCTCAGACAG GATTCTCCCCACAGAGACCCTGCTTCCCTCCTCAGACAGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18982.hp2 NA18963.hp1 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0002 a0001c0002t0001g0007	2	397	0.0050	192	c.-51 others(203): Show c.-5163_-5162insCTCCCCCCACACACCCTGCTTCCCTCAGACAGGA TTCTCCCCACACACACTCTGCTTCCCTCCTCAGACAGGATTCTCCCCACA CAGAACCTGCTTCCCTCCTCAGACAGGATTCTCCCCACAAACACCCTGCT TCCCTCCTCAGACAGGATTCTCCCCACAGAGACCCTGCTTCCCTCCTCAG ACAGGATG	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		4468		chr19	TogoVar
TRIM28_chr19_58539064_58555715	58540476	A A	ACAGGATT others(185): Show ACAGGATTCTCCCCACACACACCCTGCTTCCCTCCTCAGACAGGATTTTC CCCGCACACATCCTGCTTCCCTCCTCAGACAGGATTTTCCCCACACAAAC CCTACTGTCCTCCTCAGACAGGATTCTCTCCACACAGACCCTGCTTCCCT CAGACAGGATTCTCCCCACACAGACCCTGCTTCCCTCCTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	400	0.0025	192	c.-42 others(203): Show c.-4282_-4281insCAGGATTCTCCCCACACACACCCTGCTTCCCTCC TCAGACAGGATTTTCCCCGCACACATCCTGCTTCCCTCCTCAGACAGGAT TTTCCCCACACAAACCCTACTGTCCTCCTCAGACAGGATTCTCTCCACAC AGACCCTGCTTCCCTCAGACAGGATTCTCCCCACACAGACCCTGCTTCCC TCCTCAGG	TRIM28	ENSG00000130726.12	transcript	ENST00000253024.10	protein_coding		3587		chr19	TogoVar

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