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
DCUN1D4_chr4_51838153_51921837	51897576	T T	TAAAAATA others(301): Show TAAAAATAACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0111 a0001c0001t0010g0111	1	256	0.0039	308	c.507 others(325): Show c.507-1682_507-1681insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAATAACCAA	DCUN1D4	ENSG00000109184.15	transcript	ENST00000334635.10	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
DDX51_chr12_132131594_132149319	132148957	A A	ACTCACAC others(301): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0002 a0003c0003t0001g0002	1	260	0.0038	308	c.-46 others(319): Show c.-4662_-4661insCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGT GTGGTGTGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTG TGAGCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTG AGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGG CGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGCGAGGCGGCGGCAC TCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGGCGGCGGCACTCACCG AGGGGATTAGGGGTGTGGTGTGAG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4639		chr12	TogoVar
DDX51_chr12_132131594_132149319	132148992	C C	CGCCGCCT others(301): Show CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0072 a0002c0002t0009g0072	1	320	0.0031	308	c.-46 others(319): Show c.-4697_-4696insCGCACTCACCGAGGGGATTAGGGGTGTGGTGTGA GCGAGGCGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGAGTGAGG CGGCGGCACTCACCGAGGGGATTAGGGGTGTGGTGTGAGTGAGGCGGCGG CACTCACCGAGGGGATTAGGGGTGTGGTATGAGTGAGGCGGCGGCACTCA CCGAGGGGATTAGGGGTGTGGTGTGAGCGAGGCGGCGGCACTCACCGAGG GGATTAGGGGTGTGGTGTGAGTGAGGCGGCCGCACTCACCGAGGGGATTA GGGGTGTGGTGTGAGCGAGGCGGC	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4674		chr12	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(301): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTG AGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGG GGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	164	0.0061	308	c.-42 others(319): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGTGTGGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG GGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DENND1A_chr9_123374658_123935126	123577672	A A	AAAGAAAT others(301): Show AAAGAAATAGGTTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	160	0.0063	308	c.867 others(325): Show c.867+5496_867+5497insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGC CCGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAG CCGGGATGGTCTCGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAAACCTATTTCTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	12/23			chr9	TogoVar
DHTKD1_chr10_12063954_12128221	12076056	T T	TAGAACTG others(301): Show TAGAACTGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGC GGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	372	0.0027	308	c.155 others(325): Show c.155-5403_155-5402insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACGACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCAGAACTGATTCTT	DHTKD1	ENSG00000181192.12	transcript	ENST00000263035.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
DIDO1_chr20_62872743_62931505	62875245	C C	CCCCCACC others(301): Show CCCCCACCCCACCCGCACCCGCACCCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCCCACCCCACCCCACCCCCACCCCCACCCTCACCCCCA CCCCCACCCCACCCCCACCCCCACCCGCACCGGCACCCCCCACCCGCACC GGCACCCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCCCAC CCCCACCCGCACCCCCACCCCCCACCCCCACCCCCACCCGCACCCCCACC CCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCACCCC CCACCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0026 a0003c0003t0001g0026	1	318	0.0031	308	c.39 others(319): Show c.3987_*3988insTGCGGGTGGGGGGTGGGGGTGGGGGTGCGGGTGG GGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GTGGGGGGTGGGGGTGCGGGTGGGGGTGGGGGGGTGGGGGTGCGGGTGGG GGTGGGGGTGGGGGTGGGGGGTGCCGGTGCGGGTGGGGGGTGCCGGTGCG GGTGGGGGTGGGGGTGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGT GGGGTGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGG GGTGCGGGTGCGGGTGGGGTGGGG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2497		chr20	TogoVar
DIRAS1_chr19_2709567_2726372	2713254	A A	ACCTCACT others(301): Show ACCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCA CTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCGTCACTGTCT ACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCC ACCACCTCCTCCACCCTTAATGCCATCTCTCACTTCCTACACCCATCACC TCCTCCACCCTTCATCCCATCCATCACTGTCTACACCCATCACCTCCTCC ACCCTTCATCCCATCCCTCACTTCCTCCACGCACCACCCCCTCCACCCTT CATCCCATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	344	0.0029	308	c.39 others(319): Show c.3955_*3956insGATGGGATGAAGGGTGGAGGGGGTGGTGCGTGGA GGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGACAGT GATGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGAGA TGGCATTAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGAT GAAGGGTGGAGGAGGTGATCGGTGTAGACAGTGACGGATGGGATGAAGGG TGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGG AGGTGGTGGGTGTAGGAAGTGAGG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1312		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713405	T T	TCACCTCC others(301): Show TCACCTCCTCCACCCTTCACCCCATACCTCACTTCCTACACCCACCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCATCCTTC ATCCCATCCCTCACTTCCTACACCCATCGCCTCCTCCACCCTTCACCCCA TACCTCACTTCCTACACCCATCACCTCCTCCACCCTTCACCCCATACCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATTCCTCACTTCC TACACCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0014 a0001c0001t0011g0014	1	366	0.0027	308	c.38 others(319): Show c.3804_*3805insGTGGGTGTAGGAAGTGAGGAATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAGGA GGTGATGGGTGTAGGAAGTGAGGTATGGGGTGAAGGGTGGAGGAGGCGAT GGGTGTAGGAAGTGAGGGATGGGATGAAGGATGGAGGAGGTGGTGGGTGT AGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGT ATGGGGTGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		1161		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(301): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTCACT TCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0029 a0001c0003t0002g0029	1	73	0.0137	308	c.36 others(319): Show c.3631_*3632insGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713578	G G	GCACCACC others(301): Show GCACCACCCCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCA CCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCT CCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCC TTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATC CCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCC CTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATTCCTCACT TCCTACACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00738.hp1 others(17): Show HG00438.hp2 HG00544.hp2 HG00738.hp1 HG01069.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp1 HG03490.hp2 HG03492.hp1 HG03831.hp2 NA18943.hp2 NA18960.hp2 NA19005.hp2 NA19065.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0005g0007 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0037 a0001c0001t0005g0007 a0001c0001t0005g0087	20	92	0.2174	308	c.36 others(319): Show c.3631_*3632insGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGA GGAGGTGACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGT GGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGG TGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGG AAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGA GGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATG GGATGAAGGGTGGAGGGGGTGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		988		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713669	C C	CCACCTCC others(301): Show CCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCC TACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0007 a0001c0001t0005g0007	1	369	0.0027	308	c.35 others(319): Show c.3540_*3541insACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGT AGGAAGTGAGGGATGGGGTGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGG ATGGGATGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		897		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713757	C C	CCACCTCC others(301): Show CCACCTCCTCCACCCTTCACCCCATCCCTCACTTCCTACACCCGTCACCT CCTCCACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTC ATCCCATCCCTCACTTCCTACACCCACCACCTCCTCCACCCTTCATCCCA TCCCTCACTTCCTACACCCGTCACCTCCTCCACCCTTCATCCCATCCCTC ACTTCCTACACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTTCC TACACCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	378	0.0026	308	c.34 others(319): Show c.3452_*3453insACGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGT GGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGA GGTGACGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGT GGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACGGGTGT AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAGGAAG TGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTGAGGG ATGGGGTGAAGGGTGGAGGAGGTG	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		809		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713915	C C	CGTCACTG others(301): Show CGTCACTGTCTACACCGATCACCTCCTCCACCCTTCATCCCATCCCTCAC TTCCTACACCCACCACCTCCTCCACCCTTCATCCCATCCCTCACTTCCTA CACCCACCACCTCCTCCACCTTTCACGCCATCCCTCACTTCCTCCACCCA CCACCTCCTCCACCCTCCATCCCATCCCTCACTTCCTCCACCCATCACCT CCTCCACCCTTCATCCCATCCCTCACTTCCTACACCTGTCACCTCCTCCA CCCTTCATCCCATCCCTCACTTCCTCCACCCACCACCTCCTCCACCCTTC ATGCCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0023 a0001c0001t0014g0023	1	410	0.0024	308	c.32 others(319): Show c.3294_*3295insAGATGGCATGAAGGGTGGAGGAGGTGGTGGGTGG AGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGACAGGTGTAGGAAG TGAGGGATGGGATGAAGGGTGGAGGAGGTGATGGGTGGAGGAAGTGAGGG ATGGGATGGAGGGTGGAGGAGGTGGTGGGTGGAGGAAGTGAGGGATGGCG TGAAAGGTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGG GTGGAGGAGGTGGTGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAG GAGGTGATCGGTGTAGACAGTGAC	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		651		chr19	TogoVar
DIRAS1_chr19_2709567_2726372	2713937	C C	CTCCTCCA others(301): Show CTCCTCCACCCTTCATCCCATCCCTCACTTCCTACACCCGTCACCTCCTC CACCCTTCATCCCATTCCTCACTTCCTACACCCACCACCTCCTCCACCCT TCATCCCATTCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCC CATCCCTCACTTCCTACACCCATCACCTCCTCCACCCTTCATCCCATCCC TCACTTCCTCCACCCACCACCTCCTCCACCCTTCACCCCATCCCTCACTT CCTACACCCATCACCTCCTCCACCCTTCACACCATCCCTCACTTCCTACA CCCACCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	410	0.0024	308	c.32 others(319): Show c.3272_*3273insAGTGGTGGGTGTAGGAAGTGAGGGATGGTGTGAA GGGTGGAGGAGGTGATGGGTGTAGGAAGTGAGGGATGGGGTGAAGGGTGG AGGAGGTGGTGGGTGGAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGG TGATGGGTGTAGGAAGTGAGGGATGGGATGAAGGGTGGAGGAGGTGATGG GTGTAGGAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGGTGGGTGTAG GAAGTGAGGAATGGGATGAAGGGTGGAGGAGGTGACGGGTGTAGGAAGTG AGGGATGGGATGAAGGGTGGAGGA	DIRAS1	ENSG00000176490.5	transcript	ENST00000323469.5	protein_coding		629		chr19	TogoVar
DISP3_chr1_11474155_11542551	11522629	G G	GCCCAGCC others(301): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGC CAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACC CAGCCAGGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0115 a0001c0005t0005g0115	1	214	0.0047	308	c.236 others(327): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGACC CAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGACCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK8_chr9_209865_470255	262448	T T	TAAAAAAA others(301): Show TAAAAAAAACCATGTTTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01069.hp1 HG02145.hp2 others(7): Show HG00639.hp2 HG01069.hp1 HG02145.hp2 HG02257.hp1 HG02809.hp2 HG03130.hp2 HG03209.hp1 HG03516.hp2 HG06807.hp1 NA19043.hp1	a0003 a0005 a0020 others(5): Show a0003 a0005 a0020 a0024 a0028 a0036 a0046 a0056	a0003c0135 a0005c0145 a0005c0155 others(7): Show a0003c0135 a0005c0145 a0005c0155 a0020c0150 a0020c0152 a0024c0147 a0028c0151 a0036c0139 a0046c0153 a0056c0130	a0003c0135t0001 a0005c0145t0001 a0005c0155t0001 others(7): Show a0003c0135t0001 a0005c0145t0001 a0005c0155t0001 a0020c0150t0001 a0020c0152t0001 a0024c0147t0002 a0028c0151t0003 a0036c0139t0003 a0046c0153t0001 a0056c0130t0001	a0003c0135t0001g0173 a0005c0145t0001g0172 a0005c0155t0001g0176 others(7): Show a0003c0135t0001g0173 a0005c0145t0001g0172 a0005c0155t0001g0176 a0020c0150t0001g0179 a0020c0152t0001g0175 a0024c0147t0002g0178 a0028c0151t0003g0174 a0036c0139t0003g0177 a0046c0153t0001g0171 a0056c0130t0001g0169	10	157	0.0637	308	c.54- others(323): Show c.54-9164_54-9163insTGGCCGGGCGCGGTGGCTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAACCATGTT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOP1B_chr21_36151824_36299274	36285426	A A	ACTACGTG others(301): Show ACTACGTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGTTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0002 a0001c0025t0002	a0001c0025t0002g0057 a0001c0025t0002g0057	1	290	0.0034	308	c.616 others(327): Show c.6161-2576_6161-2575insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTACGTGTTTTT	DOP1B	ENSG00000142197.13	transcript	ENST00000691173.1	protein_coding	32/36		INFO_REALIGN_3_PRIME	chr21	TogoVar
DPEP1_chr16_89608642_89643433	89617661	C C	CGCGGCGG others(301): Show CGCGGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGC GGCTCACACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCA CACCTGTAATCCCAGCGCTGTGGGAGGCCGGGCGCGGTGGCTCACACCTG TAATCCCAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCC CAGCACTGTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATCCCAGCGC TGTGGGAGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGG AGGTCGGGT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02818.hp2 others(5): Show HG02280.hp2 HG02622.hp2 HG02818.hp2 HG02976.hp2 HG03195.hp1 NA18522.hp1 NA19043.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0003c0004 a0001c0001 a0003c0003 a0003c0004	a0001c0001t0001 a0003c0003t0002 a0003c0004t0002 a0001c0001t0001 a0003c0003t0002 a0003c0004t0002	a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 others(5): Show a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0003c0003t0002g0127 a0003c0003t0002g0128 a0003c0004t0002g0049	8	211	0.0379	308	c.-10 others(327): Show c.-107+3981_-107+3982insCGGGTGCGGCGGCTCACACCTGTAAT CCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGC GCTGTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGC TGGGCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCG TGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGG CTCACACCTGTAATCCCAGCACTTTGGGAGGT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00609.hp2 others(28): Show HG00280.hp2 HG00423.hp1 HG00609.hp2 HG01496.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG02027.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02257.hp2 HG02273.hp1 HG02896.hp1 HG02897.hp1 HG03239.hp2 HG03471.hp2 HG03927.hp2 HG03942.hp2 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18966.hp2 NA18971.hp1 NA19000.hp2 NA19011.hp1 NA19054.hp1 NA19064.hp2 NA19081.hp2 NA19084.hp2 NA20905.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0008 a0001c0001 a0002c0002 a0006c0008	a0001c0001t0001 a0002c0002t0001 a0006c0008t0001 a0001c0001t0001 a0002c0002t0001 a0006c0008t0001	a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0001g0098 others(28): Show a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0212 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0113 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0121 a0002c0002t0001g0131 a0002c0002t0001g0205 a0006c0008t0001g0101	31	113	0.2743	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCAGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01891.hp1 others(16): Show HG00323.hp2 HG01167.hp1 HG01891.hp1 HG02145.hp1 HG02257.hp1 HG02300.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02897.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0003c0003t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0084 others(16): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0002g0095 a0002c0002t0001g0033 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0003g0051 a0002c0002t0003g0052 a0003c0003t0002g0083	19	101	0.1881	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCAGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0004 a0001c0001t0001g0082	2	84	0.0238	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCAGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCAGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp1 HG03098.hp2 others(1): Show HG02723.hp2 HG02818.hp1 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(1): Show a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042	4	86	0.0465	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCAGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCAGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	83	0.0120	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCAGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTGTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCACGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp2 HG01517.hp2 HG00642.hp2 HG01099.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0059 a0001c0001t0001g0204 a0001c0001t0001g0208	3	85	0.0353	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTGTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCACGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCACGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG00733.hp2 others(13): Show HG00099.hp2 HG00673.hp1 HG00733.hp2 HG01099.hp1 HG02129.hp1 HG02698.hp2 HG02717.hp1 HG02896.hp2 HG03130.hp2 HG03453.hp2 HG04184.hp1 HG04204.hp2 NA18980.hp1 NA18999.hp1 NA19054.hp2 NA19067.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0005c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0161 others(13): Show a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0203 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0160 a0002c0002t0001g0201 a0002c0002t0003g0163 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0167 a0002c0002t0005g0162 a0005c0010t0001g0156	16	98	0.1633	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCACGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02735.hp1 NA18612.hp2 HG02027.hp2 HG02735.hp1 NA18612.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0056 a0002c0002t0001g0148 a0002c0002t0004g0149 a0001c0001t0001g0056 a0002c0002t0001g0148 a0002c0002t0004g0149	3	85	0.0353	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCAGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	83	0.0120	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp1 HG01071.hp2 others(39): Show HG00323.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01361.hp1 HG01516.hp2 HG01884.hp1 HG01993.hp1 HG02071.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp2 NA18951.hp2 NA18970.hp1 NA18971.hp2 NA18983.hp2 NA19009.hp2 NA19043.hp1 NA19081.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001 a0003c0004t0002	a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0087 others(39): Show a0001c0001t0001g0006 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0134 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0006t0001g0007 a0002c0002t0001g0133 a0003c0004t0002g0233	42	124	0.3387	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617675	C C	CCTGTAAT others(301): Show CCTGTAATCCCAGCACTTTGGGAGGCCGGGCGCGGCGGCTCACACCTTTA ATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCA GCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTG TGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAG GCTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGG CGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCT GGCTCAGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	83	0.0120	308	c.-10 others(327): Show c.-107+3980_-107+3981insCCGGGCGCGGCGGCTCACACCTTTAA TCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCACACCTGTAATCCCAG CGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTGTAATCCCAGCGCTGT GGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCCCAGCACTTTGGGAGG CTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTGTGGGAGGCTGGGC GCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCTGGGCGTGCTG GCTCAGGGCTGTAATCCCAGCACTTTGGGAGG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89617711	G G	GGCTCACA others(301): Show GGCTCACACCTTTAATCCCAGCACTTTGGGAGGTCGGGTGCGGCGGCTCA CACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGGCGGCTCACACCTG TAATCCCAGCGCTGTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAACCC CAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCAC TGTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATCCCAGCGCTGTGGG AGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCACTTTGGGAGGTCG GGTGCGGCA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	248	0.0040	308	c.-10 others(327): Show c.-107+4002_-107+4003insTTAATCCCAGCACTTTGGGAGGTCGG GTGCGGCGGCTCACACCTGTAATCCCAGCGCTTTGGGAGGTCGGGCGCGG CGGCTCACACCTGTAATCCCAGCGCTGTGGGAGGCCGGGCGCGGTGGCTC ACACCTGTAACCCCAGCACTTTGGGAGGCCGGGCGCGGTGGCTCACACCT GTAATCCCAGCACTGTGGGAGGCTGGGCGCGGCAGCTCACACCTGTAATC CCAGCGCTGTGGGAGGCTGGGCGTGCTGGCTCAGGGCTGTAATCCCAGCA CTTTGGGAGGTCGGGTGCGGCAGCTCACACCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DST_chr6_56452996_56959830	56890108	C C	CAAAAACG others(301): Show CAAAAACGGCTCAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCA GTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAG CACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0011 a0011	a0011c0057 a0011c0057	a0011c0057t0001 a0011c0057t0001	a0011c0057t0001g0015 a0011c0057t0001g0015	1	80	0.0125	308	c.417 others(327): Show c.417+10312_417+10313insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCG CTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGGCTTGAGCCGTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
ECHDC2_chr1_52890910_52926740	52923161	T T	TAAAAAAA others(301): Show TAAAAAAAAAAAAAAGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0036 a0002c0003t0001g0036	2	296	0.0068	308	c.-14 others(319): Show c.-1489_-1488insTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCCCTTTTTTTTTTTTTT	ECHDC2	ENSG00000121310.17	transcript	ENST00000371522.9	protein_coding		1422		chr1	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(301): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCC AAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02630.hp2 HG03239.hp1 others(1): Show HG00280.hp2 HG02630.hp2 HG03239.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	4	379	0.0106	308	c.83+ others(321): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPSTI1_chr13_42881388_42997241	42885377	T T	TAAAAAAA others(301): Show TAAAAAAAAAAAAAAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAA AAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0027 a0001c0001t0018g0027	1	252	0.0040	308	c.31 others(319): Show c.3116_*3117insTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCAGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCTTTTTTTTTTTTTT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding		1010		chr13	TogoVar
EYS_chr6_63714980_65712226	64312983	G G	GGATCACA others(301): Show GGATCACAACTCCTTGCAGCAAGGGAACAAAACTGGATGAACAATGAGTT TGATGAATTGGAAGAAGTAGGCTTCAGAAGGTAGGTAATAACAAACTCCT CTGAGCTAAAGGAGCATGTCCTAACACAATGCAAGGAAGCTAAGAACCTT AAAAACAGGTTAAACGAATTGCTAACTAGAATAACCAGTTTAGAGAAGAA CATAAATGACCTGATGGAGCTGAAAAACACAGCAAGAAAACTTCATGAAG CATACACAAGTTGCAACAGCCAAATCGATCAAGCAGAAGAAAGGATATCA GAGATTGAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02451.hp1 HG02622.hp2 others(3): Show HG01169.hp1 HG02451.hp1 HG02622.hp2 HG02965.hp2 HG02970.hp2 HG03209.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0015 a0020	a0001c0002 a0002c0012 a0004c0024 others(3): Show a0001c0002 a0002c0012 a0004c0024 a0005c0011 a0015c0004 a0020c0020	a0001c0002t0002 a0002c0012t0002 a0004c0024t0001 others(3): Show a0001c0002t0002 a0002c0012t0002 a0004c0024t0001 a0005c0011t0002 a0015c0004t0002 a0020c0020t0002	a0001c0002t0002g0019 a0002c0012t0002g0021 a0004c0024t0001g0001 others(3): Show a0001c0002t0002g0019 a0002c0012t0002g0021 a0004c0024t0001g0001 a0005c0011t0002g0018 a0015c0004t0002g0024 a0020c0020t0002g0022	6	24	0.2500	308	c.607 others(327): Show c.6079-6209_6079-5902dupTTCAATCTCTGATATCCTTTCTTCTG CTTGATCGATTTGGCTGTTGCAACTTGTGTATGCTTCATGAAGTTTTCTT GCTGTGTTTTTCAGCTCCATCAGGTCATTTATGTTCTTCTCTAAACTGGT TATTCTAGTTAGCAATTCGTTTAACCTGTTTTTAAGGTTCTTAGCTTCCT TGCATTGTGTTAGGACATGCTCCTTTAGCTCAGAGGAGTTTGTTATTACC TACCTTCTGAAGCCTACTTCTTCCAATTCATCAAACTCATTGTTCATCCA GTTTTGTTCCCTTGCTGCAAGGAGTTGTGATC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	29/42			chr6	TogoVar
FAM120B_chr6_170301758_170412067	170398809	T T	TCTTAGGA others(301): Show TCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTG AGTGGGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTA GAACTATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCA TAACTCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGG AGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGG AAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACT ATGTCATAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03710.hp1 NA18959.hp2 others(1): Show HG00323.hp2 HG03710.hp1 NA18959.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0001 a0001c0018	a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0018t0006	a0001c0001t0005g0255 a0001c0001t0006g0198 a0001c0001t0014g0210 others(1): Show a0001c0001t0005g0255 a0001c0001t0006g0198 a0001c0001t0014g0210 a0001c0018t0006g0213	4	244	0.0164	308	c.269 others(327): Show c.2692+3515_2692+3516insAGAAAGGTAGAACTATGTCATAACTT AGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTG GGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTG	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
FAM83D_chr20_38921417_38958106	38955477	A A	AAAAAAAA others(301): Show AAAAAAAAAAAAAGAAGAAGAAGAAAGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAA ATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCAAGAGGCGGAGCTTGC AGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGA CTCCGTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0011 a0011	a0011c0017 a0011c0017	a0011c0017t0003 a0011c0017t0003	a0011c0017t0003g0125 a0011c0017t0003g0125	1	339	0.0029	308	c.29 others(319): Show c.2957_*2958insAAAAAAAAAAAAGAAGAAGAAGAAAGGCCGGGCG CGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACCCC GTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCATGAACCCA AGAGGCGGAGCTTGCAGTGAGCCGGGATAGCGCCACTGCAGTCCAGCTTG GGCGAAAGAGTGAGACTCCGTCTC	FAM83D	ENSG00000101447.15	transcript	ENST00000619850.2	protein_coding		2372		chr20	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(301): Show TTTTTTTTTCTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0008 a0017c0019t0008	a0017c0019t0008g0310 a0017c0019t0008g0310	1	320	0.0031	308	c.170 others(325): Show c.1702-589_1702-588insTTTTTTTTTTTTCTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(301): Show TTTTTTTTTCTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02723.hp1 HG01934.hp2 HG02723.hp1	a0008 a0034 a0008 a0034	a0008c0027 a0034c0043 a0008c0027 a0034c0043	a0008c0027t0018 a0034c0043t0008 a0008c0027t0018 a0034c0043t0008	a0008c0027t0018g0172 a0034c0043t0008g0174 a0008c0027t0018g0172 a0034c0043t0008g0174	2	321	0.0062	308	c.170 others(325): Show c.1702-589_1702-588insTTTTTTTTTTTTTCTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBRSL1_chr12_132485151_132590188	132576199	T T	TTTTTTTT others(301): Show TTTTTTTTTCTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCAGCC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01517.hp2 others(10): Show HG01069.hp2 HG01071.hp1 HG01517.hp2 HG02055.hp1 HG02602.hp2 HG02647.hp2 HG02922.hp2 HG02976.hp2 HG03540.hp2 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18522.hp2	a0001 a0002 a0013 others(3): Show a0001 a0002 a0013 a0017 a0019 a0022	a0001c0005 a0002c0004 a0013c0034 others(3): Show a0001c0005 a0002c0004 a0013c0034 a0017c0019 a0019c0018 a0022c0057	a0001c0005t0005 a0001c0005t0008 a0002c0004t0002 others(4): Show a0001c0005t0005 a0001c0005t0008 a0002c0004t0002 a0013c0034t0005 a0017c0019t0005 a0019c0018t0008 a0022c0057t0008	a0001c0005t0005g0052 a0001c0005t0005g0093 a0001c0005t0005g0096 others(9): Show a0001c0005t0005g0052 a0001c0005t0005g0093 a0001c0005t0005g0096 a0001c0005t0005g0263 a0001c0005t0005g0265 a0001c0005t0005g0292 a0001c0005t0008g0122 a0002c0004t0002g0125 a0013c0034t0005g0097 a0017c0019t0005g0124 a0019c0018t0008g0002 a0022c0057t0008g0067	13	332	0.0392	308	c.170 others(325): Show c.1702-589_1702-588insTTTTTTTTTTTTTTCTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCCTTTTTTTTCTT	FBRSL1	ENSG00000112787.14	transcript	ENST00000680143.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
FBXO8_chr4_174231658_174288667	174273323	T T	TAAAAAAA others(301): Show TAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAGTTAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01167.hp1 HG01257.hp2 others(14): Show HG00639.hp1 HG01167.hp1 HG01257.hp2 HG01433.hp2 HG01952.hp2 HG02622.hp2 HG02735.hp2 HG02886.hp1 HG02896.hp2 HG03239.hp1 HG03471.hp1 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04115.hp2 NA18982.hp2 NA19000.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0004 a0004c0006t0003 a0001c0001t0003 a0001c0001t0004 a0004c0006t0003	a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0071 others(9): Show a0001c0001t0003g0063 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0004g0009 a0001c0001t0004g0028 a0001c0001t0004g0065 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0074 a0004c0006t0003g0066	17	354	0.0480	308	c.-9+ others(325): Show c.-9+10086_-9+10087insTTTTAACTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATTTTTTGTAGT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCCTTTTTTTT	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FHIT_chr3_59742277_61256452	60860339	G G	GATACATC others(301): Show GATACATCATATGTATACATGAGATACATCATATGTATACATGAGATACA TCATATGTATACATGAGATACATCATATGTATACATGACATACATCATAT GTATACATGACATACATCATATGTATACATGACATACATCATATGTATAC ATGACATACATCATATGTATACATGACATACATCATATGTATACATGACA TACATCATATGTATACATGACATACATCATATGTATACATGACATACATC ATATGTATACATGACATACATCATATGTATACATGACATACATCATATGT ATACATGAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	26	0.0385	308	c.-11 others(329): Show c.-110-38329_-110-38328insGTCATGTATACATATGATGTATGT CATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCATGTA TACATATGATGTATGTCATGTATACATATGATGTATGTCATGTATACATA TGATGTATGTCATGTATACATATGATGTATGTCATGTATACATATGATGT ATGTCATGTATACATATGATGTATGTCATGTATACATATGATGTATGTCA TGTATACATATGATGTATCTCATGTATACATATGATGTATCTCATGTATA CATATGATGTATCTCATGTATACATATGATGTAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(301): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0266	1	260	0.0038	308	c.189 others(327): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FIRRM_chr1_169790040_169859080	169811811	G G	GATTATCT others(301): Show GATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGA TTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 NA18959.hp2 NA18974.hp2 others(2): Show HG02602.hp1 NA18959.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0229 others(2): Show a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0229 a0001c0001t0004g0241 a0001c0001t0004g0245	5	365	0.0137	308	c.702 others(325): Show c.702+3883_702+3884insTTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAAT AGATAATAGATTATCTATCTAAATAGATAA	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIRRM_chr1_169790040_169859080	169811813	C C	CAGTTTAT others(301): Show CAGTTTATCTAAATAGATAATAGACAGATTATCTAAATAGATAATAGATT ATCTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTAT CTATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCT ATCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTAT CTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCT AAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAA ATAGATAAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02080.hp2 NA18944.hp2 others(1): Show HG02015.hp1 HG02080.hp2 NA18944.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 others(1): Show a0001c0001t0004g0252 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255	4	359	0.0111	308	c.702 others(325): Show c.702+3886_702+3887insTTTATCTAAATAGATAATAGACAGATTA TCTAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATC TAAATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTA AATAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAA TAGATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAATA GATAATAGATTATCTATCTAAATAGATAATAGATTATCTATCTAAATAGA TAATAGATTATCTATCTAAATAGATAATAG	FIRRM	ENSG00000000460.17	transcript	ENST00000359326.9	protein_coding	9/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
FMN1_chr15_32760544_33199714	32778027	T T	TTATATTA others(301): Show TTATATTATGTATAATATATAATACATTTATTATGTATAATATATAATAC ATTTATTATATATTATGTATAATATATAATACATTTATTATATATTATGT ATAATATATAATACATTTATTATATATTATGTATAATATATAATACATGT ATTATATATTATGTATAATATATAATACATTTATTATATATTATGTATAA TATATAATACATGTATTATATATTATGTATAATATATAATACATGTATTA TATATTATGTATAATATATAATACATGTATTATATATTATGTATAATATA TAATACATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0094 a0003c0004t0001g0094	1	88	0.0114	308	c.413 others(327): Show c.4131-1109_4131-1108insCATGTATTATATATTATACATAATAT ATAATACATGTATTATATATTATACATAATATATAATACATGTATTATAT ATTATACATAATATATAATACATGTATTATATATTATACATAATATATAA TAAATGTATTATATATTATACATAATATATAATACATGTATTATATATTA TACATAATATATAATAAATGTATTATATATTATACATAATATATAATAAA TGTATTATATATTATACATAATATATAATAAATGTATTATATATTATACA TAATAAATGTATTATATATTATACATAATATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FRRS1L_chr9_109125293_109172249	109149979	A A	AGAGGCAC others(301): Show AGAGGCACAATTTCTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(51): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01168.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp1 HG02056.hp2 HG02080.hp1 HG02300.hp1 HG03491.hp2 HG03492.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp2 NA18959.hp1 NA18962.hp2 NA18966.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp2 NA18982.hp2 NA18993.hp2 NA18994.hp1 NA19005.hp2 NA19007.hp2 NA19064.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp2 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0054 others(1): Show a0001c0001t0002 a0001c0001t0013 a0001c0001t0054 a0001c0001t0057	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 others(23): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0013g0224 a0001c0001t0054g0229 a0001c0001t0057g0147	54	428	0.1262	308	c.239 others(323): Show c.239-260_239-259insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAGAAATTGTGCCTC	FRRS1L	ENSG00000260230.5	transcript	ENST00000561981.5	protein_coding	1/4			chr9	TogoVar
GALK2_chr15_49165247_49336882	49317392	T T	TAAAAAGT others(301): Show TAAAAAGTCAGGAAGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0128 a0001c0002t0018g0128	1	311	0.0032	308	c.968 others(325): Show c.968-2197_968-2196insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAGTCAGGAAGC	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT9_chr12_132191372_132334589	132262830	C C	CGGGAGCC others(301): Show CGGGAGCCATAGCTCATCTGTCTGCACCTGCAGGAGACACGGTTTGGGGT GCGGTCAGGGCGCAGCATGAGGGACCCCGGGAGCCATAGCTCATCTGTCT GCACCTGCAGGAGACACGGTTTGGGGTGCGGTCAGGGCGCAGCATGAGGG ACCCCGGGAGCCATAGCTCATCTGTCTGCACCTGCAGGAGACACGGTTTG GGGTGTGGTCAGGGCGCAGCGTGAGGGACCCCGGGAGCCATAGCTCATCT GTCTGCACCTGCAGGAGACACGGTTTGGGGTGTGGTCAGGGCGCAGCGTG AGGGACCCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02723.hp2 HG02055.hp1 HG02109.hp2 HG02723.hp2	a0001 a0001	a0001c0017 a0001c0019 a0001c0017 a0001c0019	a0001c0017t0001 a0001c0019t0003 a0001c0017t0001 a0001c0019t0003	a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077	3	180	0.0167	308	c.420 others(323): Show c.420-206_420-205insAGGGTCCCTCACGCTGCGCCCTGACCACAC CCCAAACCGTGTCTCCTGCAGGTGCAGACAGATGAGCTATGGCTCCCGGG GTCCCTCACGCTGCGCCCTGACCACACCCCAAACCGTGTCTCCTGCAGGT GCAGACAGATGAGCTATGGCTCCCGGGGTCCCTCATGCTGCGCCCTGACC GCACCCCAAACCGTGTCTCCTGCAGGTGCAGACAGATGAGCTATGGCTCC CGGGGTCCCTCATGCTGCGCCCTGACCGCACCCCAAACCGTGTCTCCTGC AGGTGCAGACAGATGAGCTATGGCTCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	2/10			chr12	TogoVar

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