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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(209): Show TCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	270	0.0037	216	c.451 others(233): Show c.451-2705_451-2704insGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950658	T T	TCCCTCGC others(209): Show TCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGATCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACC	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	270	0.0037	216	c.451 others(233): Show c.451-2705_451-2704insGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC		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(209): Show ACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA18966.hp2 HG01361.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0124 a0001c0001t0001g0033 a0001c0001t0001g0124	2	270	0.0074	216	c.451 others(233): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TBXAS1_chr7_139824264_140025293	139950691	C C	CTCCATCT others(209): Show CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	270	0.0037	216	c.451 others(233): Show c.451-2558_451-2557insCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCTTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC		TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF12_chr15_56913644_57294853	57075835	T T	TTTTCTTT others(209): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	330	0.0030	216	c.222 others(235): Show c.222+12040_222+12041insTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC		TCF12	ENSG00000140262.18	transcript	ENST00000333725.10	protein_coding	4/20					INFO_REALIGN_3_PRIME	chr15	TogoVar
TDRD12_chr19_32714767_32834580	32746440	G G	GAGAGGGG others(209): Show GAGAGGGGGAGAGAGACTGGCTGATGTGGTTATTCTGTGTGTGACAGAGA GGGGGAGAGAGACTGGCTGATGTGGTTATTCTGTGTGTGACAGAGACGGG GAGAGAGACTGGCTGATGTGGTTATTCTGTGTGTGTGAGAGAAAGAGTCT GGCTGATGTGGTTATTCTGTGTGTGTGAGAGAGAGAGTCTGGCTGATGTG GTTATTCTGTGTGTGAC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0004 a0001c0019t0004	a0001c0019t0004g0138 a0001c0019t0004g0138	1	380	0.0026	216	c.441 others(233): Show c.441-1895_441-1894insAAGAGTCTGGCTGATGTGGTTATTCTGT GTGTGTGAGAGAGAGAGTCTGGCTGATGTGGTTATTCTGTGTGTGACAGA GGGGGAGAGAGACTGGCTGATGTGGTTATTCTGTGTGTGACAGAGAGGGG GAGAGAGACTGGCTGATGTGGTTATTCTGTGTGTGACAGAGACGGGGAGA GAGACTGGCTGATGTGGTTATTCTGTGTGTGTGAGAGA		TDRD12	ENSG00000173809.18	transcript	ENST00000639142.2	protein_coding	4/32					INFO_REALIGN_3_PRIME	chr19	TogoVar
THEG_chr19_356747_381026	377335	T T	TCCCCCTC others(209): Show TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCTGTG CCCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0056 a0001c0001t0027g0056	1	370	0.0027	216	c.-13 others(227): Show c.-1366_-1365insGAGAGGCTGGGTGGGGGCACAGGGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGG GGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGA GGGGGAGAGGCTGGGTGGGGGCACAGAGGGGG		THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding					1310		chr19	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(209): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	216	c.26 others(227): Show c.2653_*2654insGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGG GACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGG GACAGGGGTCTGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGG GTCCTGGGGACAGGGGTCCTGGGGACAGGGGT		TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding					2349		chr11	TogoVar
TMEM185A_chrX_149591556_149636792	149605471	T T	TTGTCACT others(209): Show TTGTCACTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCA CTTTCTATGGCCTCCCATGTCACTTTCTATGGCCTCCCATGTCACTTTCT ATAGCCTCCCATGTCACTTTCTATAGCCTCCCATGTCACTTTCTATGGCC TCCCATGTCACTATAGCCTCCCATGTCACTTTCTATGGCCTCCCTTGTCA CTTTCTATGGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0053 a0001c0001t0013g0053	1	259	0.0039	216	c.424 others(233): Show c.424-1402_424-1401insTGGGAGGCCATAGAAAGTGACAAGGGAG GCCATAGAAAGTGACATGGGAGGCTATAGTGACATGGGAGGCCATAGAAA GTGACATGGGAGGCTATAGAAAGTGACATGGGAGGCTATAGAAAGTGACA TGGGAGGCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACATGGGAG GCCATAGAAAGTGACATGGGAGGCCATAGAAAGTGACA		TMEM185A	ENSG00000269556.9	transcript	ENST00000600449.8	protein_coding	3/6						chrX	TogoVar
TMEM232_chr5_110414496_110731671	110610240	A A	AAGGAAGG others(209): Show AAGGAAGGGAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGAAGG GAGGAAGGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0004 a0010c0018t0004	a0010c0018t0004g0043 a0010c0018t0004g0043	1	250	0.0040	216	c.903 others(233): Show c.903-3954_903-3953insCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCC CTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTTCCTTC CTTCCTCCCTTCCTTCCTTCCTCCCTTCCTCCCTTCCT		TMEM232	ENSG00000186952.15	transcript	ENST00000455884.7	protein_coding	8/13						chr5	TogoVar
TMEM239_chr20_2811364_2823062	2823022	C C	CCCTCTCC others(209): Show CCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCT CCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	400	0.0025	216	c.60 others(227): Show c.6009_*6010insCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCG TCTCCCTCTCCCTCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCT		TMEM239	ENSG00000198326.10	transcript	ENST00000380585.2	protein_coding					4961		chr20	TogoVar
TMEM255B_chr13_113754226_113821995	113760693	A A	ATTATGGT others(209): Show ATTATGGTCTTTCTGCTTTGGGGTATCTGGGGGTGGATTATGGTCTTTCT GCTTTGGTGTGTCTGGGGGTGGATTATGGTCTTTCTGCTTTGGGGTATCT GGGGGTGGGTTATGGTCTTTCTGCTTTGGGGTATCTGGGGGTGGGTTATG GTCTTTCTGCTTTGGGGTATCTGGGGGTGGGTTATGGTCTTTCTGCTTTG GGGTATCTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01109.hp1 HG00741.hp2 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0111 a0001c0001t0024 a0001c0001t0111	a0001c0001t0024g0230 a0001c0001t0111g0229 a0001c0001t0024g0230 a0001c0001t0111g0229	2	260	0.0077	216	c.46+ others(231): Show c.46+1476_46+1477insTGGGGGTGGGTTATGGTCTTTCTGCTTTGG GGTATCTGGGGGTGGGTTATGGTCTTTCTGCTTTGGGGTATCTGGGGGTG GGTTATGGTCTTTCTGCTTTGGGGTATCTGGGGGTGGGTTATGGTCTTTC TGCTTTGGGGTATCTGGGGGTGGATTATGGTCTTTCTGCTTTGGTGTGTC TGGGGGTGGATTATGGTCTTTCTGCTTTGGGGTATC		TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM44_chr3_194582678_194638419	194630435	A A	ACCTGCCT others(209): Show ACCTGCCTCCCGAAGGGGCTGGCTGTTTCCATCGGCGTCACTGATAGGGC CCCTGAAATAATACGCTGTCGTACTGCCTCCCGAAGGGGCTGGCTGTTTC CATCGGCGTCACTGATAGGGCCCCTGAAATAGTATGCTGTCGTACCTGCC TCCAGAAGGGGCTGGCTGTTTCCATCGGTGTCACTGATAGGGTCCCTGAA ATAATACGCTGTCGTGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp1 HG02559.hp1 others(10): Show HG01255.hp1 HG01934.hp1 HG02559.hp1 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0002c0023 a0009c0015	a0001c0001t0016 a0001c0007t0005 a0002c0003t0001 others(4): Show a0001c0001t0016 a0001c0007t0005 a0002c0003t0001 a0002c0003t0006 a0002c0003t0015 a0002c0023t0028 a0009c0015t0016	a0001c0001t0016g0015 a0001c0007t0005g0014 a0001c0007t0005g0016 others(10): Show a0001c0001t0016g0015 a0001c0007t0005g0014 a0001c0007t0005g0016 a0002c0003t0001g0064 a0002c0003t0001g0065 a0002c0003t0001g0066 a0002c0003t0001g0067 a0002c0003t0006g0068 a0002c0003t0015g0070 a0002c0003t0015g0071 a0002c0003t0015g0072 a0002c0023t0028g0069 a0009c0015t0016g0013	13	404	0.0322	216	c.138 others(233): Show c.138-1927_138-1926insGCACGACAGCGTATTATTTCAGGGACCC TATCAGTGACACCGATGGAAACAGCCAGCCCCTTCTGGAGGCAGGTACGA CAGCATACTATTTCAGGGGCCCTATCAGTGACGCCGATGGAAACAGCCAG CCCCTTCGGGAGGCAGTACGACAGCGTATTATTTCAGGGGCCCTATCAGT GACGCCGATGGAAACAGCCAGCCCCTTCGGGAGGCAGG		TMEM44	ENSG00000145014.18	transcript	ENST00000347147.9	protein_coding	1/9						chr3	TogoVar
TMPRSS9_chr19_2355265_2431261	2418966	T T	TTCCCTCC others(209): Show TTCCCTCCCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCC TCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCC TCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTC CTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTC CCTTCCCTCCCGCCCTC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0010 a0010	a0010c0025 a0010c0025	a0010c0025t0002 a0010c0025t0002	a0010c0025t0002g0020 a0010c0025t0002g0020	1	114	0.0088	216	c.215 others(233): Show c.2154+828_2154+829insTCCCTCCCTCTGTTTCCTTTCCTCTCTC CCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCCCTC TCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCT TCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCC TTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTC		TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18						chr19	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693513	T T	TCCACCAC others(209): Show TCCACCACCTCCACCACCTCCACCACCACCACCTCCACCTCCACCACCTC CACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCT CCACCACCTCCACCTCCACCACCACCACCACCACCTCCACCACCACCACC ACCTCCACCTCCACCACCACCACCACCTCCACCTTCACCACCACCACCAC CACCTCCACCTTCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	33	0.0303	216	c.-32 others(227): Show c.-3255_-3254insCCACCACCTCCACCACCTCCACCACCACCACCTC CACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCT CCACCTCCACCACCTCCACCACCTCCACCTCCACCACCACCACCACCACC TCCACCACCACCACCACCTCCACCTCCACCACCACCACCACCTCCACCTT CACCACCACCACCACCACCTCCACCTTCACCA		TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding					3138		chr20	TogoVar
TNFRSF6B_chr20_63691652_63703684	63693708	A A	ACCACCAC others(209): Show ACCACCACCTCCACCACCACCTCCACCACCTCCACCACCTCCACCACCAC CACCTCCACCTCCACCTCCACCTCCACCACCACCTCCACCACCTCCACCA CCACCACCACCACCTCCACCTCCACCTCCACCTCCACCTCCACCACCTCC ACCTCCACCACCTCCACCACCTCCACCACCACCTCCACCACCTCCACCAC CACCTCCACCACCACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	33	0.0303	216	c.-30 others(227): Show c.-3060_-3059insCCACCACCTCCACCACCACCTCCACCACCTCCAC CACCTCCACCACCACCACCTCCACCTCCACCTCCACCTCCACCACCACCT CCACCACCTCCACCACCACCACCACCACCTCCACCTCCACCTCCACCTCC ACCTCCACCACCTCCACCTCCACCACCTCCACCACCTCCACCACCACCTC CACCACCTCCACCACCACCTCCACCACCACCT		TNFRSF6B	ENSG00000243509.6	transcript	ENST00000369996.3	protein_coding					2943		chr20	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(209): Show GTATATATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATATGTATATATGTATATATACGTAT CTACATGTATACATGTATATATGTATACATGTGTATACATGTATGTATGT GTATATATGTATACATGTATGTGTATATATGTATACATGTATATATGTAT ACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0261 a0001c0001t0062g0261	1	388	0.0026	216	c.-23 others(233): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CATGTATACATATATACACATACATGTATACATATATACACATACATACA TGTATACACATGTATACATATATACATGTATACATGTAGATACGTATATA TACATATATACATATATATACGTGTATACACGTATATATACATATATACA TGTATATATACGTGTATACACGTATATATACATATATA		TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6						chr11	TogoVar
TSNARE1_chr8_142207080_142408182	142390612	C C	CGTAACAG others(209): Show CGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACAC TGCGGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGACTCCGTAACA GACGCTGTACACTGCGGGGACTCCGTAACAGACGCTGTACACTGCTGGGG ACTCCGTAACAGACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGT ACACTGCGGGGGACTCT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18971.hp2 HG02074.hp2 NA18971.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0133 a0003c0003t0002g0112 a0003c0003t0001g0133 a0003c0003t0002g0112	2	238	0.0084	216	c.-40 others(235): Show c.-40+12491_-40+12492insAGAGTCCCCCGCAGTGTACAGCGTCT GTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAG TGTACAGCGTCTGTTACGGAGTCCCCGCAGTGTACAGCGTCTGTTACGGA GTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCCGCAGTGTACAGC GTCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTAC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390643	T T	CGTAACAG others(209): Show CGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACAC TGCTGGGGACTCCGTAACAGACGCTGTACACTGCGGGGACTCCGTAACAG ACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGG ACTCCGTAACAGACGCTGTACACTGCGGGGGACTCTGTAACAGACGCTGT ACACTGCGGGGGACTCT	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA18963.hp2 NA18967.hp2 others(2): Show HG02080.hp2 NA18963.hp2 NA18967.hp2 NA18973.hp2 NA19004.hp2	a0003 a0009 a0003 a0009	a0003c0003 a0009c0019 a0003c0003 a0009c0019	a0003c0003t0001 a0003c0003t0002 a0009c0019t0002 a0003c0003t0001 a0003c0003t0002 a0009c0019t0002	a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 others(2): Show a0003c0003t0001g0113 a0003c0003t0001g0114 a0003c0003t0001g0115 a0003c0003t0002g0118 a0009c0019t0002g0116	5	238	0.0210	216	c.-40 others(235): Show c.-40+12461_-40+12462insGAGTCCCCCGCAGTGTACAGCGTCTG TTACAGAGTCCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGT GTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGA GTCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCG TCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACG		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390643	T T	CGTAACAG others(209): Show CGTAACAGACGCTGTACACTGCGGGGGACTCCGTAACAGACGCTGTACAC TGCTGGGGACTCCGTAACAGACGCTGTACACTGCGGGGACTCCGTAACAG ACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGG ACTCTGTAACAGACGCTGTACACTGCGGGGGACTCTGTAACAGACGCTGT ACACTGCGGGGGACTCT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA19091.hp1 NA18975.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0003 a0003c0003t0002 a0003c0003t0003	a0003c0003t0002g0100 a0003c0003t0003g0101 a0003c0003t0002g0100 a0003c0003t0003g0101	2	238	0.0084	216	c.-40 others(235): Show c.-40+12461_-40+12462insGAGTCCCCCGCAGTGTACAGCGTCTG TTACAGAGTCCCCCGCAGTGTACAGCGTCTGTTACAGAGTCCCCAGCAGT GTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTACGGA GTCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCG TCTGTTACGGAGTCCCCCGCAGTGTACAGCGTCTGTTACG		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390674	C C	CGTAACAG others(209): Show CGTAACAGACGCTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACAC TGCGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGACTCCGTAACAG ACGCTGTACACTGCTGGGGACTCTGTAACAGACGCTGTACACTGCGGGGG ACTCTGTAACAGACGCTGTACACTGCGGGGGACTCTGTAACAGACGCTGT ACACTGCGGGGGACTCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18612.hp2 NA18947.hp2 others(2): Show HG00597.hp2 NA18612.hp2 NA18947.hp2 NA18949.hp2 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003	a0003c0003t0001g0109 a0003c0003t0002g0097 a0003c0003t0002g0098 others(2): Show a0003c0003t0001g0109 a0003c0003t0002g0097 a0003c0003t0002g0098 a0003c0003t0003g0099 a0003c0003t0003g0110	5	238	0.0210	216	c.-40 others(235): Show c.-40+12429_-40+12430insAGAGTCCCCCGCAGTGTACAGCGTCT GTTACAGAGTCCCCCGCAGTGTACAGCGTCTGTTACAGAGTCCCCCGCAG TGTACAGCGTCTGTTACAGAGTCCCCAGCAGTGTACAGCGTCTGTTACGG AGTCCCCAGCAGTGTACAGCGTCTGTTACGGAGTCCCCGCAGTGTACAGC GTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTAC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TSNARE1_chr8_142207080_142408182	142390696	G G	GGGGGACT others(209): Show GGGGGACTCCGTAACAGACGCTGTACACTGCGGGGACTCCGTAACAGACG CTGTACACTGCTGGGGACTCCGTAACAGACGCTGTACACTGCTGGGGACT CTGTAACAGACGCTGTACACTGCGGGGGACTCTGTAACAGACGCTGTACA CTGCGGGGGACTCTGTAACAGACGCTGTACACTGCGGGGGACTCTGTAAC AGACGCTGTACACTGCT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0134 a0003c0003t0003g0135	2	238	0.0084	216	c.-40 others(235): Show c.-40+12407_-40+12408insAGCAGTGTACAGCGTCTGTTACAGAG TCCCCCGCAGTGTACAGCGTCTGTTACAGAGTCCCCCGCAGTGTACAGCG TCTGTTACAGAGTCCCCCGCAGTGTACAGCGTCTGTTACAGAGTCCCCAG CAGTGTACAGCGTCTGTTACGGAGTCCCCAGCAGTGTACAGCGTCTGTTA CGGAGTCCCCGCAGTGTACAGCGTCTGTTACGGAGTCCCC		TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13						chr8	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0004 a0003c0006t0004	a0003c0006t0004g0250 a0003c0006t0004g0250	1	382	0.0026	216	c.126 others(233): Show c.1261-259_1261-258insAGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCAGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG01346.hp2 others(10): Show HG00609.hp1 HG01175.hp2 HG01346.hp2 HG02886.hp2 HG04199.hp2 NA18944.hp2 NA18991.hp2 NA19007.hp2 NA19043.hp1 NA19057.hp2 NA19068.hp1 NA20300.hp1 NA20805.hp1	a0003 a0004 a0005 others(1): Show a0003 a0004 a0005 a0006	a0003c0005 a0003c0058 a0004c0023 others(2): Show a0003c0005 a0003c0058 a0004c0023 a0005c0015 a0006c0009	a0003c0005t0001 a0003c0058t0004 a0004c0023t0001 others(2): Show a0003c0005t0001 a0003c0058t0004 a0004c0023t0001 a0005c0015t0001 a0006c0009t0001	a0003c0005t0001g0005 a0003c0005t0001g0237 a0003c0005t0001g0243 others(6): Show a0003c0005t0001g0005 a0003c0005t0001g0237 a0003c0005t0001g0243 a0003c0058t0004g0093 a0004c0023t0001g0016 a0005c0015t0001g0262 a0006c0009t0001g0005 a0006c0009t0001g0242 a0006c0009t0001g0244	13	382	0.0340	216	c.126 others(233): Show c.1261-259_1261-258insAGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGG GATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01433.hp1 HG02895.hp1 HG03654.hp1 HG01433.hp1 HG02895.hp1 HG03654.hp1	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0002 a0006c0009 a0013c0028 a0001c0002 a0006c0009 a0013c0028	a0001c0002t0001 a0006c0009t0001 a0013c0028t0010 a0001c0002t0001 a0006c0009t0001 a0013c0028t0010	a0001c0002t0001g0287 a0006c0009t0001g0129 a0013c0028t0010g0052 a0001c0002t0001g0287 a0006c0009t0001g0129 a0013c0028t0010g0052	3	382	0.0079	216	c.126 others(229): Show c.1261-204_1272dupCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA CCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCA CCGTGTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCT CTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTC TCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAG	p.Lys others(229): Show p.Lys424_Lys425insProSerArgLeuGlyGlyCysSerLeuGlyAs pProArgGluAspArgProSerGlyGlnSerGlySerGlnSerProGlyT hrValCysProGlnPheMetGlnLysProSerArgLeuGlyGlyCysSer LeuGlyAspProArgGluAspArgProSerGlyGlnSerGlySerGlnSe rProGlyThrValCysProGlnPheMetGlnLys	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16	1450/2288	1273/2022	425/673		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC TCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0062 a0004c0004t0005g0062	1	382	0.0026	216	c.126 others(233): Show c.1261-115_1261-114insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGATCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp1 HG00733.hp1 others(14): Show HG00408.hp2 HG00558.hp1 HG00733.hp1 HG02698.hp2 NA18944.hp1 NA18948.hp2 NA18950.hp1 NA18954.hp2 NA18962.hp2 NA18990.hp2 NA19000.hp2 NA19009.hp2 NA19055.hp1 NA19060.hp1 NA19081.hp1 NA19090.hp1 NA20752.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0003 a0002c0001 a0005c0010 a0001c0003 a0002c0001 a0005c0010	a0001c0003t0003 a0001c0003t0005 a0002c0001t0002 others(1): Show a0001c0003t0003 a0001c0003t0005 a0002c0001t0002 a0005c0010t0004	a0001c0003t0003g0034 a0001c0003t0003g0078 a0001c0003t0003g0090 others(12): Show a0001c0003t0003g0034 a0001c0003t0003g0078 a0001c0003t0003g0090 a0001c0003t0003g0092 a0001c0003t0003g0170 a0001c0003t0005g0258 a0002c0001t0002g0027 a0002c0001t0002g0109 a0002c0001t0002g0195 a0002c0001t0002g0196 a0002c0001t0002g0225 a0002c0001t0002g0269 a0002c0001t0002g0270 a0005c0010t0004g0256 a0005c0010t0004g0257	17	382	0.0445	216	c.126 others(233): Show c.1261-173_1261-172insTCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATG CAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGA		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC CCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01978.hp2 HG01993.hp1 others(3): Show HG01243.hp2 HG01978.hp2 HG01993.hp1 HG02486.hp2 HG04184.hp2 NA20905.hp2	a0001 a0007 a0016 a0001 a0007 a0016	a0001c0003 a0001c0024 a0007c0007 others(1): Show a0001c0003 a0001c0024 a0007c0007 a0016c0034	a0001c0003t0004 a0001c0024t0007 a0007c0007t0005 others(1): Show a0001c0003t0004 a0001c0024t0007 a0007c0007t0005 a0016c0034t0004	a0001c0003t0004g0091 a0001c0003t0004g0118 a0001c0003t0004g0220 others(3): Show a0001c0003t0004g0091 a0001c0003t0004g0118 a0001c0003t0004g0220 a0001c0024t0007g0073 a0007c0007t0005g0042 a0016c0034t0004g0279	6	382	0.0157	216	c.126 others(233): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184655	G G	GGCCTTCT others(209): Show GGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGG CCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTT CATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTG AGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC TCCCAGTTCATGCAGAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0032 a0032	a0032c0026 a0032c0026	a0032c0026t0005 a0032c0026t0005	a0032c0026t0005g0043 a0032c0026t0005g0043	1	382	0.0026	216	c.126 others(233): Show c.1261-223_1261-222insTCCCAGTTCATGCAGAAGCCTTCTAGGT TAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCTCCGGACAG TCTGGGAGCCAGTCTCCAGGCACCGTGTGCTCCCAGTTCATGCAGAAGCC TTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACAGGCCCT CCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	12/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1184927	G G	GGACAGTC others(209): Show GGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAGTTCATGCA GAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCGTGAGGACA GGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGTGTGCCCCCAG TTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCCCG TGAGGACAGGCCCTCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00609.hp2 HG01123.hp1 HG01169.hp2 others(18): Show HG00609.hp2 HG01123.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02083.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02965.hp1 HG04199.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp2 NA18950.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0006 others(1): Show a0001c0002 a0002c0001 a0003c0006 a0003c0041	a0001c0002t0001 a0002c0001t0002 a0003c0006t0003 others(1): Show a0001c0002t0001 a0002c0001t0002 a0003c0006t0003 a0003c0041t0003	a0001c0002t0001g0107 a0002c0001t0002g0009 a0002c0001t0002g0026 others(15): Show a0001c0002t0001g0107 a0002c0001t0002g0009 a0002c0001t0002g0026 a0002c0001t0002g0167 a0002c0001t0002g0173 a0002c0001t0002g0174 a0002c0001t0002g0179 a0002c0001t0002g0180 a0002c0001t0002g0181 a0002c0001t0002g0182 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0001t0002g0185 a0002c0001t0002g0186 a0002c0001t0002g0187 a0002c0001t0002g0227 a0003c0006t0003g0249 a0003c0041t0003g0247	21	382	0.0550	216	c.127 others(225): Show c.1272_1273insCCTTCTAGGTTAGGGGGATGTTCTCTTGGGGACCCC CGTGAGGACAGGCCCTCCGGACAGTCTGGGAGCCAGTCTCCAGGCACCGT GTGCCCCCAGTTCATGCAGAAGCCTTCTAGGTTAGGGGGATGTTCTCTTG GGGACCCCCGTGAGGACAGGCCCTCCAGACAGTCTGGGAGCCAGTCTCCA GGCACCGTGTGCCCCCAGTTCATGCAGAAG	p.Lys others(229): Show p.Lys424_Lys425insProSerArgLeuGlyGlyCysSerLeuGlyAs pProArgGluAspArgProSerGlyGlnSerGlySerGlnSerProGlyT hrValCysProGlnPheMetGlnLysProSerArgLeuGlyGlyCysSer LeuGlyAspProArgGluAspArgProSerArgGlnSerGlySerGlnSe rProGlyThrValCysProGlnPheMetGlnLys	TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding	13/16	1450/2288	1273/2022	425/673		INFO_REALIGN_3_PRIME	chr1	TogoVar
TTLL10_chr1_1168880_1202936	1202022	G G	GAGCCCAG others(209): Show GAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACC CAGCCCCCAGCCCAGTACCCAGCCCGGAGCCCAGTACCCAGCCCCGAGCC CAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCC CCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCGGAG CCCAGTACCCAGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0088 a0005c0010t0004g0088	1	382	0.0026	216	c.41 others(227): Show c.4175_*4176insAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCCCCAGCCCAGTACCCAGCCCGGAGCCCAGT ACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGA GCCCAGTACCCAGCCCCCAGCCCCGAGCCCAGTACCCAGCCCCCAGCCCA GTACCCAGCCCGGAGCCCAGTACCCAGCCCCC		TTLL10	ENSG00000162571.14	transcript	ENST00000379289.6	protein_coding					4087		chr1	TogoVar
TTLL8_chr22_50013575_50063298	50028819	C C	CCCCATCA others(209): Show CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCA TCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0149 a0002c0002t0001g0149	1	224	0.0045	216	c.225 others(235): Show c.2251+1610_2251+1611insTCTTTACGAGGGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50028908	C C	CCCCATCA others(209): Show CCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCAT CACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACACTCGTAAAGA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0201 a0005c0005t0002g0201	1	224	0.0045	216	c.225 others(235): Show c.2251+1521_2251+1522insTCTTTACGAGTGTGTGTGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGG TGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATG GGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TTLL8_chr22_50013575_50063298	50029406	A A	ACCCCACA others(209): Show ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCAT CACACCGTCCTAAAGAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0117 a0003c0003t0002g0117	1	224	0.0045	216	c.225 others(235): Show c.2251+1023_2251+1024insGTCTTTAGGACGGTGTGATGGGGTCT TTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAG GGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGT GGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCT TCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGG		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TUBGCP5_chr15_22994177_23044569	23042177	A A	ACCGGGGG others(209): Show ACCGGGGGGACATCATAACCACACCTGGCCAGAGGTGCCGGTGGGACTTC ATAACCCCACCTGGCCAGAGGTGCCGGGGGGACTTCATAACCACACCTGG CCAGAGGTGCCGGGGGGACATCATAACCACACCTGGCCAGAGGTGCCGGT GGGACTTCATAACCCCACCTGGCCAGAGGTGCCGGGGGGACTTCATAACC ACACCTGGCCAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0049 a0001c0010t0001g0049	1	351	0.0029	216	c.-26 others(227): Show c.-2635_-2634insCACCTCTGGCCAGGTGTGGTTATGAAGTCCCCCC GGCACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCGGCACCTCTGGCCA GGTGTGGTTATGATGTCCCCCCGGCACCTCTGGCCAGGTGTGGTTATGAA GTCCCCCCGGCACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCGGCACC TCTGGCCAGGTGTGGTTATGATGTCCCCCCGG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2609		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23042344	C C	CCACCTGG others(209): Show CCACCTGGCCAGAGGTGCCGGGGGGACTTCATAACCACACCTGGCCAGAG GTGCCGGGGGGACATCATAACCACACCTGGCCAGAGGTGCCGGGGGGACA ACATAACCACACCTGGCCAGAGGTGCCCGGAGGACTTCATAACCACACCT GGCCAGAGGTGCCGGGAGGACTTCATAACCACACCTGGCCAGAGGTGCCG GGCGGACTTCATAACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02976.hp2 NA18952.hp1 others(2): Show HG02257.hp1 HG02976.hp2 NA18952.hp1 NA19060.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0276 a0001c0001t0003g0278 a0001c0001t0003g0007 a0001c0001t0003g0276 a0001c0001t0003g0278	5	351	0.0143	216	c.-28 others(227): Show c.-2802_-2801insTGGTTATGAAGTCCGCCCGGCACCTCTGGCCAGG TGTGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGGTGTGGTTATGAAGT CCTCCGGGCACCTCTGGCCAGGTGTGGTTATGTTGTCCCCCCGGCACCTC TGGCCAGGTGTGGTTATGATGTCCCCCCGGCACCTCTGGCCAGGTGTGGT TATGAAGTCCCCCCGGCACCTCTGGCCAGGTG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					2776		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043571	A A	ACACCTGG others(209): Show ACACCTGGCCAGAGGTGCTTGGGGACTTCATAACCACAGCTGGCCAGAGG TGCCAGGGGGGACATCATAACCCCACCTGGCCTGAGGTGCCGGGGGGGCC ATCATAACCACACCTGGCCAGAGGTGCCGGGGCGACTTCATAACCACACC TGGCCAGAGGTGCTGGGGTACTTCACAACCGCACCTGGCCAGAGGTGCCG GGAGGACTTCATAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00558.hp1 others(41): Show HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01081.hp1 HG01099.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp1 HG02523.hp1 HG04199.hp2 NA18747.hp1 NA18942.hp1 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18955.hp1 NA18959.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18987.hp2 NA18989.hp2 NA19005.hp2 NA19057.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp1 NA19067.hp1 NA19081.hp1 NA19090.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0002 a0004c0013 others(1): Show a0001c0001 a0001c0002 a0004c0013 a0005c0012	a0001c0001t0001 a0001c0002t0002 a0004c0013t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0004c0013t0002 a0005c0012t0002	a0001c0001t0001g0010 a0001c0001t0001g0181 a0001c0001t0001g0244 others(36): Show a0001c0001t0001g0010 a0001c0001t0001g0181 a0001c0001t0001g0244 a0001c0002t0002g0003 a0001c0002t0002g0008 a0001c0002t0002g0009 a0001c0002t0002g0017 a0001c0002t0002g0028 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0084 a0001c0002t0002g0085 a0001c0002t0002g0087 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0097 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0103 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0122 a0001c0002t0002g0127 a0004c0013t0002g0090 a0005c0012t0002g0102	44	351	0.1254	216	c.-40 others(227): Show c.-4029_-4028insGGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGG TGCGGTTGTGAAGTACCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTC GCCCCGGCACCTCTGGCCAGGTGTGGTTATGATGGCCCCCCCGGCACCTC AGGCCAGGTGGGGTTATGATGTCCCCCCTGGCACCTCTGGCCAGCTGTGG TTATGAAGTCCCCAAGCACCTCTGGCCAGGTG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					4003		chr15	TogoVar
TUBGCP5_chr15_22994177_23044569	23043571	A A	ACACCTGG others(209): Show ACACCTGGCCAGAGGTGCTTGGGGACTTCATAACCACAGCTGGCCAGAGG TGCCAGGGGGGACATCATAACCCCACCTGGCTAGAGGTGCCGGGGGGGCC ATCATAACCACACCTGGCCAGAGGTGCCGGGGCGACTTCATAACCACACC TGGCCAGAGGTGCTGGGGTACTTCACAACCGCACCTGGCCAGAGGTGCCG GGAGGACTTCATAACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	351	0.0029	216	c.-40 others(227): Show c.-4029_-4028insGGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGG TGCGGTTGTGAAGTACCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTC GCCCCGGCACCTCTGGCCAGGTGTGGTTATGATGGCCCCCCCGGCACCTC TAGCCAGGTGGGGTTATGATGTCCCCCCTGGCACCTCTGGCCAGCTGTGG TTATGAAGTCCCCAAGCACCTCTGGCCAGGTG		TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding					4003		chr15	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(209): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	320	0.0031	216	c.-38 others(227): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					3731		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(209): Show TATATACACAAGTGTGTATATACGTATATACACACGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTG TGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACATA TATGTGTGTGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	320	0.0031	216	c.-38 others(227): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAC GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTAT ACGCATACACACATATATGTGTGTGTATACGC		UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding					3731		chr11	TogoVar
UMAD1_chr7_7635752_7884223	7678637	G G	GATAAATA others(209): Show GATAAATATATATTTATATACTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATTTATATATTTAGTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00597.hp1 others(10): Show HG00140.hp2 HG00438.hp2 HG00597.hp1 HG02145.hp1 HG02922.hp2 HG03225.hp1 HG03516.hp2 HG04199.hp1 NA18952.hp1 NA18960.hp2 NA18986.hp2 NA18988.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0065 a0001c0001t0068 a0001c0001t0070	a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0117 others(10): Show a0001c0001t0001g0017 a0001c0001t0001g0060 a0001c0001t0001g0117 a0001c0001t0002g0027 a0001c0001t0002g0061 a0001c0001t0002g0167 a0001c0001t0008g0053 a0001c0001t0011g0044 a0001c0001t0012g0087 a0001c0001t0014g0015 a0001c0001t0065g0214 a0001c0001t0068g0141 a0001c0001t0070g0074	13	250	0.0520	216	c.82+ others(231): Show c.82+5203_82+5204insCTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAAT ATTTATATATTTAGTTTATAAATATATATTTATATA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UMAD1_chr7_7635752_7884223	7678637	G G	GATAAATA others(209): Show GATAAATATATATTTATATACTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTTATAAATATAT ATTTATATATTTAGTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0194 a0001c0001t0009g0194	1	250	0.0040	216	c.82+ others(231): Show c.82+5203_82+5204insCTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAGTTTATAAATATATATTTATGTATTTAGTTTATAAATATAT ATTTATGTATTTAGTTTATAAATATTTATATATTTAGTTTATAAATATAT ATTTATATATTTAGTTTATAAATATATATTTATATA		UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr7	TogoVar
UNC5C_chr4_95157504_95553973	95196757	A A	ATATATTT others(209): Show ATATATTTATATATTATATTTATGTAATATATAATATATATTTATATATT ATATTTATGTAATATATAATATATATTTATATATTATATTTATGTAATAT ATAATATATATTTATATATTATATTTATGTAATATATAATATATATTTAT ATATTATATTTATGTAATATATAATATATATTTATATATTATATTTATGT AATATATAATATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG02976.hp1 others(2): Show HG01884.hp1 HG02647.hp1 HG02976.hp1 HG03486.hp2 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0006 a0001c0028 a0001c0004 a0001c0006 a0001c0028	a0001c0004t0003 a0001c0006t0003 a0001c0028t0033 a0001c0004t0003 a0001c0006t0003 a0001c0028t0033	a0001c0004t0003g0014 a0001c0004t0003g0169 a0001c0004t0003g0178 others(2): Show a0001c0004t0003g0014 a0001c0004t0003g0169 a0001c0004t0003g0178 a0001c0006t0003g0200 a0001c0028t0033g0080	5	204	0.0245	216	c.213 others(235): Show c.2136+5973_2136+5974insAATATATATTATATATTACATAAATA TAATATATAAATATATATTATATATTACATAAATATAATATATAAATATA TATTATATATTACATAAATATAATATATAAATATATATTATATATTACAT AAATATAATATATAAATATATATTATATATTACATAAATATAATATATAA ATATATATTATATATTACATAAATATAATATATAAATATA		UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	12/15						chr4	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(209): Show TTATATATAGTATATATGTAATATATATACTATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAATA TATACTATATATAGTATATATGTAATATATATACTATATATAGTATATAT GTAATATATATATACTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	188	0.0053	216	c.458 others(235): Show c.4582-1204_4582-1203insCTATATATACTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAC TATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAAT ATATATATACTATATATATAGTATATATGTAATATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(209): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATATACTATATATAGTATATATGTAATA TATACTATATATAGTATATATGTAATATATATACTATATATAGTATATAT GTAATATATATATACTA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 NA18991.hp1 others(1): Show HG01175.hp2 HG01981.hp1 NA18991.hp1 NA19003.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0024 a0001c0003 a0001c0004 a0001c0024	a0001c0003t0002 a0001c0004t0001 a0001c0024t0001 a0001c0003t0002 a0001c0004t0001 a0001c0024t0001	a0001c0003t0002g0086 a0001c0004t0001g0014 a0001c0004t0001g0088 others(1): Show a0001c0003t0002g0086 a0001c0004t0001g0014 a0001c0004t0001g0088 a0001c0024t0001g0081	4	188	0.0213	216	c.458 others(235): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATAGTATATATGTAATATATATACTATATATA GTATATATGTAATATATATATACTATATATAGTATATATGTAATATATAC TATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAAT ATATATATACTATATATATAGTATATATGTAATATATATA		UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64					INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8467034	G G	GGGGAGGG others(209): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GCGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02809.hp1 HG01106.hp1 HG02809.hp1	a0013 a0049 a0013 a0049	a0013c0012 a0049c0048 a0013c0012 a0049c0048	a0013c0012t0003 a0049c0048t0003 a0013c0012t0003 a0049c0048t0003	a0013c0012t0003g0010 a0049c0048t0003g0010 a0013c0012t0003g0010 a0049c0048t0003g0010	2	271	0.0074	216	c.65 others(225): Show c.651_*652insGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGCGGTGGTGTGTGGGGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					525		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8467154	G G	GGGGAGGG others(209): Show GGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGA AGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG TGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAA GCGGTGGTGTGTGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0013 a0013	a0013c0012 a0013c0012	a0013c0012t0003 a0013c0012t0003	a0013c0012t0003g0010 a0013c0012t0003g0010	1	271	0.0037	216	c.77 others(225): Show c.771_*772insGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGG GAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGGAGGAAGCGGTGGTGTGTGGGGA		VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding					645		chrX	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(209): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0047 a0001c0002t0001g0047	1	408	0.0025	216	c.53+ others(231): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(209): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0051 a0001c0002t0001g0051	1	408	0.0025	216	c.53+ others(231): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGAT		VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS8_chr3_184807166_185057604	184895628	C C	CCCCCCCT others(209): Show CCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCC CCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTC CCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCT CCTCCCCCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0093 a0002c0002t0004g0093	1	274	0.0037	216	c.200 others(233): Show c.2004+709_2004+710insTCCTCCTCCCCCCCTCCTCCTCCCCCCC TCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCTCCTCC TCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCCTC CTCCTCCCCCCTCCTCCTCCCCCCCTCCTCCTCCCCCC		VPS8	ENSG00000156931.16	transcript	ENST00000625842.3	protein_coding	23/47					INFO_REALIGN_3_PRIME	chr3	TogoVar

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