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
TC2N_chr14_91774746_91872536	91780905	T T	TAAAACAT others(311): Show TAAAACATTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18906.hp2 NA21309.hp1 NA18906.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0020 a0001c0001t0013g0022 a0001c0001t0013g0020 a0001c0001t0013g0022	2	344	0.0058	318	c.21 others(329): Show c.2194_*2195insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCTAAATGTTTT	TC2N	ENSG00000165929.13	transcript	ENST00000435962.7	protein_coding	12/12	2194		chr14	TogoVar
TERF2_chr16_69350567_69391007	69361931	T T	TTCCACTA others(311): Show TTCCACTAGCCTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCTCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	340	0.0029	318	c.134 others(335): Show c.1341-443_1341-442insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGAGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAGAGGCTAGTGGA	TERF2	ENSG00000132604.11	transcript	ENST00000254942.8	protein_coding	7/9			chr16	TogoVar
TES_chr7_116205539_116263783	116225172	T T	TAAAAACA others(311): Show TAAAAACACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCA GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0101 a0001c0002t0006g0101	1	386	0.0026	318	c.28- others(333): Show c.28-9353_28-9352insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACT	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
THEG_chr19_356747_381026	376976	C C	CTCTGTGC others(311): Show CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0297 a0003c0004t0004g0297	1	370	0.0027	318	c.-10 others(329): Show c.-1007_-1006insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		951		chr19	TogoVar
THEG_chr19_356747_381026	377293	G G	GCCCCACC others(311): Show GCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	370	0.0027	318	c.-13 others(329): Show c.-1324_-1323insGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAG GGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGG GGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1268		chr19	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(311): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	314	0.0032	318	c.189 others(333): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(311): Show CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGT CTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0137 a0001c0001t0059g0137	1	314	0.0032	318	c.189 others(333): Show c.189-754_189-753insTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747753	G G	GCTGGGGT others(311): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCG GGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCAC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGGCA	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0082 a0001c0001t0082	a0001c0001t0082g0073 a0001c0001t0082g0073	1	314	0.0032	318	c.189 others(333): Show c.189-560_189-559insTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGG AGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTG GGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM131_chr2_97751336_98000948	97880138	A A	AAAAAACT others(311): Show AAAAAACTATCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTC CGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGG GACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0005 a0005c0006t0005	a0005c0006t0005g0143 a0005c0006t0005g0143	1	284	0.0035	318	c.359 others(335): Show c.359+7913_359+7914insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAAT ACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGATAGTTTTT	TMEM131	ENSG00000075568.17	transcript	ENST00000186436.10	protein_coding	4/40			chr2	TogoVar
TMEM170B_chr6_11532749_11588524	11550515	T T	TATGATTC others(311): Show TATGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0082 a0001c0001t0045g0082	1	352	0.0028	318	c.97+ others(335): Show c.97+12150_97+12151insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCTGCCTCCCGGATTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCATGATTCTT	TMEM170B	ENSG00000205269.6	transcript	ENST00000379426.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM185A_chrX_149591556_149636792	149605458	T T	TCTATAGC others(311): Show TCTATAGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTATGGCCT CCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATAGCCTCCCATG TCACTTTCTATGGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTT TCTATAGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTATGGCCT CCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATAGCCTCCCATG TCACTTTCTATAGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTT TCTATGGCCTCCCATGTCA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0029 a0001c0001t0017g0029	1	259	0.0039	318	c.424 others(335): Show c.424-1389_424-1388insTGACATGGGAGGCCATAGAAAGTGACAT GGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACATGGGAGG CTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCCATAG TGACATGGGAGGCCATAGAAAGTGACATGGGAGGCTATAGAAAGTGACAT GGGAGGCTATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAGG CTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCCATAG TGACATGGGAGGCCATAGAAAGTGACATGGGAGGCTATAG	TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6			chrX	TogoVar
TMEM18_chr2_658877_682406	671372	T T	TGTGAAGG others(311): Show TGTGAAGGCGCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACTGAA CCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGGACT GAACCATGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCTGGG ACTGAACCACGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCTCCT GGGACTGAACCACGTGAAGGCCCTGCATCCGGGAGGAGAGGCAGGGTCCT CCTGGGACTGAACCACGTGAAGGCCCTGCATCCGGAAGGAGAGGCAGGGT CCTCCTGGGACTGAACCAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0103 a0001c0001t0051g0103	1	442	0.0023	318	c.233 others(335): Show c.233+1435_233+1436insGTGGTTCAGTCCCAGGAGGACCCTGCCT CTCCTTCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACCCTG CCTCTCCTCCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGGACC CTGCCTCTCCTCCCGGATGCAGGGCCTTCACGTGGTTCAGTCCCAGGAGG ACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCCAGG AGGACCCTGCCTCTCCTCCCGGATGCAGGGCCTTCACATGGTTCAGTCCC AGGAGGACCCTGCCTCTCCTCCCGGATGCAGCGCCTTCAC	TMEM18	ENSG00000151353.15	transcript	ENST00000281017.8	protein_coding	3/4			chr2	TogoVar
TMEM239_chr20_2811364_2823062	2823000	G G	GTCTCCCT others(311): Show GTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCC CTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTC CCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTC CCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCT CCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	318	c.59 others(329): Show c.5987_*5988insTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTC TCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGT CTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCT CTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC	TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding		4939		chr20	TogoVar
TMEM41B_chr11_9275654_9319593	9309513	C C	CAGAGCTT others(311): Show CAGAGCTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	370	0.0027	318	c.121 others(335): Show c.121+4807_121+4808insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGGAAGCTCT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	1/6			chr11	TogoVar
TMPRSS6_chr22_37060436_37114713	37097782	A A	AGAGGGCC others(311): Show AGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGCCACTGTCCTGTA ACGGAGGGGGAAGAGCGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGG GCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCA CCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGGAGGG GCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCACCGTC CTGTAACGGAGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0104 a0004c0003t0001g0104	1	348	0.0029	318	c.336 others(333): Show c.336+633_336+634insCCCTCCCCCTCCGTTACAGGACGGTGGCCC GCTCCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTAC AGGACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCC TGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGA CGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCC CCTCCGTTACAGGACGGTGGCCCGCTCTTCCCCCTCCGTTACAGGACAGT GGCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCTC	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TNR_chr1_175310194_175748595	175651084	C C	CCCCCACC others(311): Show CCCCCACCTCATTACTACCCCTCCCCATCTCATTACTCCTCCTCCCCCAT CTCATTACTACCTGTCCCCCACCTCCTTACTACCCCTCCCCCACCTCATT ACTACCCATCTCCCACCTCATTCCTCCTCCTCCCCACCTCATTACTACCC CTCTCCCACCTCATTACTACCCCTCCCCACCTCATTACTACTCCTCCCCA TCTCATTACTACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTA CTCCTCCCCATCTCATTACTACCCCTCCCCACCTCATTATTCCACCTTCC CCACCTCATTACTACCCCT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0117	1	132	0.0076	318	c.-16 others(339): Show c.-165+92141_-165+92142insAGGGGTAGTAATGAGGTGGGGAAG GTGGAATAATGAGGTGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTA ATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGATGGGG AGGAGTAGTAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGAGAGGGGTA GTAATGAGGTGGGGAGGAGGAGGAATGAGGTGGGAGATGGGTAGTAATGA GGTGGGGGAGGGGTAGTAAGGAGGTGGGGGACAGGTAGTAATGAGATGGG GGAGGAGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TNS3_chr7_47270154_47587111	47552027	A A	AAAGGGGC others(311): Show AAAGGGGCGGCATTCTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp2 HG03098.hp1 others(5): Show HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0002c0008 a0003c0053	a0001c0001t0003 a0001c0002t0026 a0001c0003t0001 others(3): Show a0001c0001t0003 a0001c0002t0026 a0001c0003t0001 a0001c0004t0046 a0002c0008t0010 a0003c0053t0001	a0001c0001t0003g0018 a0001c0001t0003g0035 a0001c0001t0003g0036 others(5): Show a0001c0001t0003g0018 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0002t0026g0175 a0001c0003t0001g0174 a0001c0004t0046g0107 a0002c0008t0010g0033 a0003c0053t0001g0034	8	196	0.0408	318	c.-26 others(339): Show c.-264-22881_-264-22880insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAATGCCGCCCCTT	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	1/30			chr7	TogoVar
TOM1_chr22_35294894_35352973	35310261	T T	TTAAAAGT others(311): Show TTAAAAGTATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp2 HG02630.hp2 others(1): Show HG02280.hp2 HG02572.hp2 HG02630.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0030 others(1): Show a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0002t0001g0030 a0001c0002t0001g0033	4	358	0.0112	318	c.53- others(333): Show c.53-7604_53-7603insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAATAAAAGTATTCA	TOM1	ENSG00000100284.22	transcript	ENST00000449058.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
TOMM7_chr7_22807974_22827849	22813858	T T	TAAAAATG others(311): Show TAAAAATGTAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	420	0.0024	318	c.153 others(333): Show c.153-674_153-673insTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGGGCTACATTTTT	TOMM7	ENSG00000196683.12	transcript	ENST00000358435.9	protein_coding	2/2			chr7	TogoVar
TOP2B_chr3_25592984_25669907	25627414	A A	AGTGATCA others(311): Show AGTGATCAATCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01123.hp1 HG01175.hp2 HG01099.hp1 HG01123.hp1 HG01175.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0005 a0005c0008t0005	a0005c0008t0005g0156 a0005c0008t0005g0157 a0005c0008t0005g0158 a0005c0008t0005g0156 a0005c0008t0005g0157 a0005c0008t0005g0158	3	310	0.0097	318	c.190 others(335): Show c.1907-119_1907-118insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGATTGATCAC	TOP2B	ENSG00000077097.17	transcript	ENST00000264331.9	protein_coding	15/35			chr3	TogoVar
TOR4A_chr9_137272726_137287641	137273459	A A	AGTTGACT others(311): Show AGTTGACTGCTTCAGGGGTGAAGGGGCAGCTTTTGATTTTAGCTTTTTTA GATTTTTTTGTTTTGTTTTATTGAAATTTGATTTTTGGTTTGCTTGGAGG TGAGTTGTGTTTGTTCCTTGTTTTCGTTTTACAATTTAGATTTATTTTTA CCTAGTTTTTCATAGTTTTTTTTTCTAAATTTTTTTATTACATTATGATT TTTTTATTTTAATTTTCTTACCCCTTTTTTTTTTGTTGGTTTTTAGTATT AGTAGTTTTTTCTTTATTTAGTTTTTTTTTTTTTGCATATTGGGACTGTT GTTGTGTATTTGTTTGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	318	c.-44 others(329): Show c.-4486_-4485insGTTGACTGCTTCAGGGGTGAAGGGGCAGCTTTTG ATTTTAGCTTTTTTAGATTTTTTTGTTTTGTTTTATTGAAATTTGATTTT TGGTTTGCTTGGAGGTGAGTTGTGTTTGTTCCTTGTTTTCGTTTTACAAT TTAGATTTATTTTTACCTAGTTTTTCATAGTTTTTTTTTCTAAATTTTTT TATTACATTATGATTTTTTTATTTTAATTTTCTTACCCCTTTTTTTTTTG TTGGTTTTTAGTATTAGTAGTTTTTTCTTTATTTAGTTTTTTTTTTTTTG CATATTGGGACTGTTGTTGTGTATTTGTTTGGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		4266		chr9	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(311): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGC CCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCC TGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCCCCTCC CCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTCCACCC TCAGCCCCCTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0001 a0001c0001t0051g0001	1	270	0.0037	318	c.31 others(327): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC ACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTGGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258679	C C	CTGAGCCC others(311): Show CTGAGCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCCCTGC TCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGC CCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCATCC TGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCCTCC CCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCTTGAGT CCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTCCACCC TCAGCCCCCTCCCCTTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02723.hp1 HG02976.hp2 others(2): Show HG02630.hp2 HG02723.hp1 HG02976.hp2 HG03130.hp2 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0081 a0003c0003t0012 a0002c0002t0081 a0003c0003t0012	a0002c0002t0081g0013 a0003c0003t0012g0003 a0002c0002t0081g0013 a0003c0003t0012g0003	5	270	0.0185	318	c.31 others(327): Show c.311_*312insCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCC CCTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCT TGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCC CATCCTGGGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCC CCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTTTCT TGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCCTCCTC CACCCTCAGCCCCCTCCCCTTTCTTGAGCCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPSD1_chr16_1251069_1264008	1258684	C C	CCCCCCTC others(311): Show CCCCCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGCCACTGCTCCA TCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTCTTGAGCCCCT CATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCCCCACCCTGAG CCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCCCCTTCCCCTT TCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCTTGAGCCCTTC CTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCCCACCCTGAGC CCCTTCCCCTTTCTTGAGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0017 a0001c0001t0047g0017	1	270	0.0037	318	c.31 others(327): Show c.311_*312insCCTCCCCCACCCTGAGCCCCCTCCCCTGTCTTGAGC CACTGCTCCATCCTGAGTCCCCTCCCCCACACTGAGCCCCCTCCCCTTTC TTGAGCCCCTCATCCATCCTGAGCCCCTCCTCCATCCTGAGCCCCCTCCC CCACCCTGAGCCCCCTCCCCTTTCTTGAGCCCCCTCCCCCACCCTGAGCC CCTTCCCCTTTCTTGAGTCCCTCCTCCATCCTGAGCCCCCTCCCCTTTCT TGAGCCCTTCCTCCACCCTCAGCCCCCTCCCCTTTCTTGAGCCCCTCCCC CACCCTGAGCCCCTTCCCCTTTCTTGAGTCCC	TPSD1	ENSG00000095917.15	transcript	ENST00000211076.5	protein_coding	5/5	312	INFO_REALIGN_3_PRIME	chr16	TogoVar
TPTE_chr21_10516583_10610716	10545236	T T	TAAAATTC others(311): Show TAAAATTCATTCACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0097 a0001c0001t0006g0097	1	209	0.0048	318	c.173 others(335): Show c.173+1869_173+1870insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTCATTCACAA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TPTE_chr21_10516583_10610716	10545236	T T	TAAAATTC others(311): Show TAAAATTCATTCACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0099 a0001c0001t0006g0099	1	209	0.0048	318	c.173 others(335): Show c.173+1869_173+1870insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATT GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTGGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAATTCATTCACAA	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	7/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
TRAPPC12_chr2_3374694_3484565	3437834	C C	CATCACCC others(311): Show CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCACCA CCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC AGGATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCCCTGGAT TAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATC CCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCC CATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCA CCCCTGGATTAATCCCCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA19030.hp1 HG02896.hp2 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0021 a0001c0011 a0002c0021	a0001c0011t0001 a0002c0021t0002 a0001c0011t0001 a0002c0021t0002	a0001c0011t0001g0044 a0002c0021t0002g0087 a0001c0011t0001g0044 a0002c0021t0002g0087	2	344	0.0058	318	c.141 others(337): Show c.1418-5928_1418-5927insACCCCATCACCCCTGGATTAATCCCC CCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCAT CACCCCAGGATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCC CTGGATTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAA TCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCC CCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAAT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC3L_chr6_116489989_116550684	116522977	T T	TAAAATGT others(311): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGCAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	360	0.0028	318	c.240 others(337): Show c.240+17385_240+17386insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTGC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGCAATCCACATTTT	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding	3/4			chr6	TogoVar
TRAPPC3L_chr6_116489989_116550684	116522977	T T	TAAAATGT others(311): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	360	0.0028	318	c.240 others(337): Show c.240+17385_240+17386insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGCAATCCACATTTT	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding	3/4			chr6	TogoVar
TRAPPC3L_chr6_116489989_116550684	116522977	T T	TAAAATGT others(311): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01071.hp2 HG01346.hp1 others(28): Show HG00597.hp2 HG01071.hp2 HG01346.hp1 HG01496.hp1 HG02027.hp2 HG02080.hp1 HG02148.hp2 HG02165.hp2 HG03669.hp2 HG03688.hp1 NA18612.hp1 NA18943.hp1 NA18946.hp1 NA18953.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18989.hp2 NA18993.hp2 NA19006.hp2 NA19011.hp1 NA19057.hp1 NA19070.hp1 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp1 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0028 others(26): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0002g0034 a0003c0004t0001g0033	31	360	0.0861	318	c.240 others(337): Show c.240+17385_240+17386insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCAGCAATCCACATTTT	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding	3/4			chr6	TogoVar
TRAPPC9_chr8_139722725_140462744	140037951	G G	GAAAGCTG others(311): Show GAAAGCTGTATTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp2 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0005 a0001c0026 a0001c0005 a0001c0026	a0001c0005t0009 a0001c0026t0002 a0001c0005t0009 a0001c0026t0002	a0001c0005t0009g0057 a0001c0026t0002g0048 a0001c0005t0009g0057 a0001c0026t0002g0048	2	98	0.0204	318	c.255 others(339): Show c.2557-13873_2557-13872insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCAACAATACAGCTTT	TRAPPC9	ENSG00000167632.18	transcript	ENST00000438773.4	protein_coding	17/22			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273453	A A	AAAATTAT others(311): Show AAAATTATATATATATTATATATATATAAAAATTATATATATATATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATA ATATATATATAAAAATTATATATATATTATATATATATATAAATTATATA TATATTATATATATATATAAATTATATATAAATTATATATATATTATATA TATATATAAATTATATATATATTATATATATATATAAATTATATATATAT TATATATATATATAAATTATATATATATTATATATATATATAAATTATAT ATATATTATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0000 a0000	a0000c0005 a0000c0005	a0000c0005t0004 a0000c0005t0004	a0000c0005t0004g0056 a0000c0005t0004g0056	1	272	0.0037	318	c.30 others(329): Show c.3018_*3019insAAATTATATATATATTATATATATATAAAAATTA TATATATATATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATAATATATATATAAAAATTATATATATATTATATATA TATATAAATTATATATATATTATATATATATATAAATTATATATAAATTA TATATATATTATATATATATATAAATTATATATATATTATATATATATAT AAATTATATATATATTATATATATATATAAATTATATATATATTATATAT ATATATAAATTATATATATATTATATATATATAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2340		chr11	TogoVar
TRMT2A_chr22_20106875_20122226	20122034	G G	GTCGTCTA others(311): Show GTCGTCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT CAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02717.hp2 HG01257.hp1 HG01258.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	3	442	0.0068	318	c.-51 others(329): Show c.-5129_-5128insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTGAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAAAAAAAATTAGACGA	TRMT2A	ENSG00000099899.16	transcript	ENST00000252136.12	protein_coding		4809		chr22	TogoVar
TRNAU1AP_chr1_28548085_28583545	28571782	C C	CAAAAAAA others(311): Show CAAAAAAAATAAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0195 a0001c0002t0002g0195	1	296	0.0034	318	c.694 others(331): Show c.694-68_694-67insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAATA	TRNAU1AP	ENSG00000180098.9	transcript	ENST00000373830.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRNAU1AP_chr1_28548085_28583545	28571786	A A	AAAAATAA others(311): Show AAAAATAAAAAATAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0180 a0001c0002t0002g0180	1	296	0.0034	318	c.694 others(331): Show c.694-68_694-67insGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTGCTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAATAAAATAAAAAATA	TRNAU1AP	ENSG00000180098.9	transcript	ENST00000373830.4	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRPC1_chr3_142719034_142812888	142741181	T T	TATAACTA others(311): Show TATAACTATGTATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTATTTT TAGTAGAGACACGGTTTCACCGCGTTAACCAGGATGGTCTAGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0205 a0003c0007t0001g0205	1	340	0.0029	318	c.328 others(335): Show c.328-2288_328-2287insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGT ATTTTTAGTAGAGACACGGTTTCACCGCGTTAACCAGGATGGTCTAGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCATAACTATGTATTTTT	TRPC1	ENSG00000144935.17	transcript	ENST00000476941.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRPM3_chr9_70524060_71126621	70917553	A A	ACAGTGTT others(311): Show ACAGTGTTAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02559.hp2 HG02976.hp1 others(6): Show HG01515.hp2 HG02559.hp2 HG02976.hp1 HG03041.hp1 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0005 a0003c0022 others(1): Show a0001c0002 a0002c0005 a0003c0022 a0004c0012	a0001c0002t0001 a0001c0002t0002 a0002c0005t0025 others(3): Show a0001c0002t0001 a0001c0002t0002 a0002c0005t0025 a0002c0005t0027 a0003c0022t0037 a0004c0012t0010	a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0002g0175 others(6): Show a0001c0002t0001g0097 a0001c0002t0001g0098 a0001c0002t0002g0175 a0001c0002t0002g0176 a0002c0005t0025g0112 a0002c0005t0025g0113 a0002c0005t0027g0104 a0003c0022t0037g0109 a0004c0012t0010g0150	9	214	0.0421	318	c.178 others(337): Show c.178-53043_178-53042insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACTTAACACTG	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	1/25			chr9	TogoVar
TSHZ2_chr20_52967358_53500330	52991417	G G	GTGTGAAA others(311): Show GTGTGAAAGCTTTTCTGATGCATGATTTTGTGTGGATTATGTATGTTGTG GGTATCAGTGTGTGTTGTGGGGGGAGAGAGTGTGAAAGCTTTTCTGATGC ATGATTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGTGTGTTGTGGG GGGACAGAATGTGAAAGCTTTTCTGATGCATGATTTTGTGTGGATTATGT ATGTTGTGGGTATTAGTGTGTGTGTTGTAGGAGAAGAGAGTGTGAAAGCT TTTCTGATGTATGATTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGT GTGTTGTGGGGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0015 a0003c0006t0015	a0003c0006t0015g0008 a0003c0006t0015g0008	1	174	0.0058	318	c.40+ others(335): Show c.40+18138_40+18139insCAGTGTGTGTTGTGGGGGGAGAGAGTGT GAAAGCTTTTCTGATGCATGATTTTGTGTGGATTATGTATGTTGTGGGTA TTAGTGTGTGTTGTGGGGGGACAGAATGTGAAAGCTTTTCTGATGCATGA TTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGTGTGTGTTGTAGGAG AAGAGAGTGTGAAAGCTTTTCTGATGTATGATTTTGTGTGGATTATGTAT GTTGTGGGTATTAGTGTGTGTTGTGGGGGGAGAGAATGTGAAAGCTTTTC TGATGCATGATTTTGTGTGGATTATGTATGTTGTGGGTAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSHZ2_chr20_52967358_53500330	52991417	G G	GTGTGAAA others(311): Show GTGTGAAAGCTTTTCTGATGCATGATTTTGTGTGGATTATGTATGTTGTG GGTATTAGTGTGTGTTGTGGGGGGAGAGAATGTGAAAGCTTTTCTGATGC ATGATTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGTGTGTGTTGTA GGAGAAGAGAGTGTGAAAGCTTTTCTGATGTATGATTTTGTGTGGATTAT GTATGTTGTGGGTATTAGTGTGTGTTGTGGGGAGAGAGAGTGTGAAAGCT TTTCTGATGCATGATTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGT GTGTTGTGGGGGGAGAGAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG04115.hp2 NA20805.hp2 HG01074.hp1 HG04115.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0021 a0001c0001t0001 a0001c0001t0004 a0001c0002t0021	a0001c0001t0001g0055 a0001c0001t0004g0075 a0001c0002t0021g0049 a0001c0001t0001g0055 a0001c0001t0004g0075 a0001c0002t0021g0049	3	174	0.0172	318	c.40+ others(335): Show c.40+18148_40+18149insTGTGGGGGGAGAGAATGTGAAAGCTTTT CTGATGCATGATTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGTGTG TGTTGTAGGAGAAGAGAGTGTGAAAGCTTTTCTGATGTATGATTTTGTGT GGATTATGTATGTTGTGGGTATTAGTGTGTGTTGTGGGGAGAGAGAGTGT GAAAGCTTTTCTGATGCATGATTTTGTGTGGATTATGTATGTTGTGGGTA TTAGTGTGTGTTGTGGGGGGAGAGAATGTGAAAGCTTTTCTGATGCATGA TTTTGTGTGGATTATGTATGTTGTGGGTATTAGTGTGTGT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TSPAN11_chr12_30921748_31001599	30967795	T T	TGGCCTAG others(311): Show TGGCCTAGAATCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 NA18522.hp2 others(1): Show HG01884.hp1 HG02257.hp2 NA18522.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0034 a0001c0001t0049 others(1): Show a0001c0001t0004 a0001c0001t0034 a0001c0001t0049 a0002c0002t0038	a0001c0001t0004g0011 a0001c0001t0034g0008 a0001c0001t0049g0010 others(1): Show a0001c0001t0004g0011 a0001c0001t0034g0008 a0001c0001t0049g0010 a0002c0002t0038g0194	4	394	0.0102	318	c.276 others(335): Show c.276+3799_276+3800insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTAGAATCTGCTTTCTTT	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN11_chr12_30921748_31001599	30967795	T T	TGGCCTAG others(311): Show TGGCCTAGAATCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01123.hp1 HG01934.hp2 others(15): Show HG01074.hp1 HG01123.hp1 HG01934.hp2 HG02071.hp1 HG02145.hp2 HG02280.hp1 HG02630.hp2 HG02717.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03704.hp1 HG03710.hp2 HG03942.hp1 NA18984.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0009 a0012	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0009c0015 a0012c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0071 a0002c0002t0004 a0002c0002t0026 a0002c0005t0004 a0003c0003t0052 a0009c0015t0019 a0012c0014t0019	a0001c0001t0001g0288 a0001c0001t0002g0296 a0001c0001t0005g0301 others(15): Show a0001c0001t0001g0288 a0001c0001t0002g0296 a0001c0001t0005g0301 a0001c0001t0010g0029 a0001c0001t0010g0294 a0001c0001t0010g0319 a0001c0001t0010g0324 a0001c0001t0017g0302 a0001c0001t0071g0297 a0002c0002t0004g0021 a0002c0002t0004g0373 a0002c0002t0026g0299 a0002c0005t0004g0004 a0002c0005t0004g0361 a0002c0005t0004g0362 a0003c0003t0052g0349 a0009c0015t0019g0004 a0012c0014t0019g0125	18	394	0.0457	318	c.276 others(335): Show c.276+3799_276+3800insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTAGAATCTGCTTTCTTT	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN12_chr7_120782320_120863144	120827122	T T	TAATAGCT others(311): Show TAATAGCTGTCAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	294	0.0034	318	c.286 others(337): Show c.286-11320_286-11319insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATTT TTTGTAGTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGTTGACAGCTATT	TSPAN12	ENSG00000106025.9	transcript	ENST00000222747.8	protein_coding	4/7			chr7	TogoVar
TTC28_chr22_27973014_28684840	28380049	C C	CAAAACGT others(311): Show CAAAACGTTAACATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCGCGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0076 a0001c0001t0006g0076	1	196	0.0051	318	c.382 others(337): Show c.382-73407_382-73406insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGCGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAATGTTAACGTTTT	TTC28	ENSG00000100154.15	transcript	ENST00000397906.7	protein_coding	2/22			chr22	TogoVar
TTC7B_chr14_90519564_90821430	90718835	C C	CAAAATTG others(311): Show CAAAATTGACCAAAATGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp2 HG02056.hp1 others(11): Show HG00099.hp1 HG01074.hp2 HG02056.hp1 HG02970.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp2 HG04184.hp1 NA18944.hp2 NA18967.hp1 NA18998.hp1 NA19009.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0015	a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 others(10): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0104 a0001c0002t0002 a0001c0002t0004 a0001c0002t0024 a0001c0002t0058 a0001c0004t0012 a0001c0004t0078 a0001c0004t0079 a0001c0005t0001 a0001c0015t0111	a0001c0001t0008g0181 a0001c0001t0009g0192 a0001c0001t0011g0117 others(11): Show a0001c0001t0008g0181 a0001c0001t0009g0192 a0001c0001t0011g0117 a0001c0001t0104g0028 a0001c0002t0002g0044 a0001c0002t0004g0130 a0001c0002t0024g0196 a0001c0002t0058g0134 a0001c0004t0012g0141 a0001c0004t0078g0071 a0001c0004t0079g0080 a0001c0005t0001g0025 a0001c0005t0001g0057 a0001c0015t0111g0146	14	200	0.0700	318	c.698 others(337): Show c.698+11239_698+11240insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCATTTTGGTCAATTTT	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	5/19			chr14	TogoVar
TWIST2_chr2_238843085_238915534	238870595	C C	CACCACAC others(311): Show CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCATACACCCCCCACACACCACACCCCACACACCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACAAACCACACACCCCACACACACCACACACACCACACACCCCACACACA CCACACCCCATACACACCACACCCCACACACACCACACACCCCACACACA CCACACACACACATCACAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG03704.hp2 HG01258.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0275 a0001c0001t0003g0132 a0001c0001t0001g0275 a0001c0001t0003g0132	2	338	0.0059	318	c.35 others(337): Show c.35+21862_*35+21863insACCACACACACACATCACATACCACA CACCCGACACACGCCACACACACACCATACACCCCCCACACACCACACCC CACACACCATACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACACCCCACACACACCACACAAACCACACACCCCACACACACCAC ACACACCACACACCCCACACACACCACACCCCATACACACCACACCCCAC ACACACCACACACCCCACACACACCACACACACACATCACAT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TYW1_chr7_66991833_67244514	67016239	G G	GGGGAGTT others(311): Show GGGGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01993.hp2 others(6): Show HG01109.hp1 HG01168.hp2 HG01993.hp2 HG02559.hp1 HG02717.hp1 HG02886.hp2 HG03453.hp2 NA18522.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0174 a0003c0005t0002g0012 a0003c0005t0002g0195 others(6): Show a0001c0001t0001g0174 a0003c0005t0002g0012 a0003c0005t0002g0195 a0003c0005t0002g0196 a0003c0005t0002g0197 a0003c0005t0002g0198 a0003c0005t0002g0199 a0003c0005t0002g0200 a0003c0005t0002g0204	9	364	0.0247	318	c.571 others(335): Show c.571-1601_571-1600insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGGGAGTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7718904	T T	TAAAGCTT others(311): Show TAAAGCTTCCCAAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02970.hp1 NA18522.hp2 HG01109.hp1 HG02970.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0064 a0001c0001t0066 a0001c0001t0042 a0001c0001t0064 a0001c0001t0066	a0001c0001t0042g0157 a0001c0001t0064g0190 a0001c0001t0066g0115 a0001c0001t0042g0157 a0001c0001t0064g0190 a0001c0001t0066g0115	3	250	0.0120	318	c.82+ others(335): Show c.82+45466_82+45467insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCGGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGTGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAGCTTCCCAAGTG	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC13A_chr19_17596336_17693354	17631180	T T	TCCCTCCC others(311): Show TCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCCT CCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTT CCCTCCCTCCCTCCCTCCCTTCCTTCCCTCCCTCCCTCCCTCCCTTCCCT CCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCC CTCCCTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCTTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0012 a0001c0003t0001g0012	1	320	0.0031	318	c.342 others(335): Show c.3429-431_3429-430insGGGAGGGAGGGAGGGAAGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGG GAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAAGGG AGGGAGGGAGGGAGGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAGGGA GGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGA AGGGAGGGAGGGAGGGAGGGAAGGAGGGAGGGAGGGAGGG	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	28/43			chr19	TogoVar
UNC13C_chr15_53973441_54633605	54156777	C C	CAAAACTA others(311): Show CAAAACTAGACATATTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGT AGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGTGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04228.hp2 HG01358.hp1 HG04228.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0022 a0001c0003 a0008c0022	a0001c0003t0039 a0008c0022t0010 a0001c0003t0039 a0008c0022t0010	a0001c0003t0039g0101 a0008c0022t0010g0061 a0001c0003t0039g0101 a0008c0022t0010g0061	2	158	0.0127	318	c.307 others(339): Show c.3071+13110_3071+13111insGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAGTAGCCGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGCTACACGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGTCGTGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTAGACATATTTG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54508182	T T	TGAAAGTA others(311): Show TGAAAGTATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03471.hp1 NA18522.hp1 others(1): Show HG02976.hp1 HG03471.hp1 NA18522.hp1 NA18906.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0013c0030 a0001c0001 a0001c0002 a0013c0030	a0001c0001t0029 a0001c0001t0037 a0001c0002t0002 others(1): Show a0001c0001t0029 a0001c0001t0037 a0001c0002t0002 a0013c0030t0014	a0001c0001t0029g0090 a0001c0001t0037g0158 a0001c0002t0002g0082 others(1): Show a0001c0001t0029g0090 a0001c0001t0037g0158 a0001c0002t0002g0082 a0013c0030t0014g0083	4	158	0.0253	318	c.537 others(336): Show c.5379+999_5379+1000insGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGTATATT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr15	TogoVar

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