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
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(678): Show TATATATATGGAATATATACGTATGGAATATATATATGGAATATATACGT ATGGAATATATATATGGAATATATACGTATGGAATATATATATATGGAAT ATACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATA TGGAATATACGTATGGAATATATATATATGGAATATACGTATGGAATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATATGGAATATATAT GTATGGAATATATATGTATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATA TATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAATA TATATGTATGGAATATACATATGGAATATATATGTATGGAATATACATAT ATGGAATATATATGTATGGAATATATATATGGAATATATGTATGGAATAT ATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTATG GAATATATATATATGGAATATATGTATGGAATATATATATGGAATATATG TATATGGAATATATATATGGAATATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0246 a0002c0004t0002g0246	1	205	0.0049	685	c.-19 others(696): Show c.-1920_-1919insATATATATGGAATATATACGTATGGAATATATAT ATGGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAAT ATATATATATGGAATATACGTATGGAATATATATATATGGAATATACGTA TGGAATATATATATATGGAATATACGTATGGAATATATATATATGGAATA TACGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATATGGAATATATATGTATGGAATATATATGTATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATATATATGGAATATATATATGGAATATATATGTATGGAA TATATATATGGAATATATATGTATGGAATATACATATGGAATATATATGT ATGGAATATACATATATGGAATATATATGTATGGAATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATA TGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATA TATATGGAATATATGTATATGGAATATATATATGGAATATATATATATGG A	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173125	C C	CCTCTCTC others(678): Show CCTCTCTCTCCCCCCCTCCCCCCCTCTCCCCTCCCCCTCCCCCCTCTCCC CTCCGCCTCTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCC CCCTCTCTCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCTGTCTCCCCCTC CCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCC CCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCC CCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCC CCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCCCATCCCCTCCCCCCTCTC TCCCCCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCTCCCC CTCCTTCCCTCTCCCCCTCCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCT TCCCTCTCCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCC CTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCC CTCTGTCTCTCTCCCCCCCTCCTTTCCTCTCTCTCTCCCCCCCCTCCTTC CCTCTGTCTCTCTCCCCCCTCCTTCCCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0018 a0003c0018	a0003c0018t0003 a0003c0018t0003	a0003c0018t0003g0015 a0003c0018t0003g0015	1	153	0.0065	685	c.11 others(706): Show c.1103+4101_*1103+4102insCCCCCCTCCCCCCCTCTCCCCTCC CCCTCCCCCCTCTCCCCTCCGCCTCTCTCCCCCTCCCCCTCCCCTCTCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCCCCTCCCCCCCCTCCCC TCCCTGTCTCCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCTCC CCCTCCCCCTCTCCCCCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCT CCCCTCCCCCTCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCTCCCCCTC TCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCTCCCCA TCCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCTCTCCCCCTCCCC CCTCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCCTCTC TCCCCCTCCCCCTCCTTCCCTCTCCCCTCTCCCCCTCCCCCTCCTTCCCT CTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCT CTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTTCCTCTCTCT CTCCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(678): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCCC CACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCC CAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCA CAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03927.hp1 HG01433.hp2 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0268 a0002c0002t0001g0186 a0002c0002t0001g0268	2	6	0.3333	685	c.-41 others(700): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCC CCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCC CCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCC ACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCG CCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(678): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAG CCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCCC CACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCC CAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCA CAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAGCCACCCCC CCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCACC CCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	5	0.2000	685	c.-41 others(700): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACA GCCACCCCCCCACAGCCACCCCCCACAGCCGCCCCCCCACAGCCGCCCCC CCACAGCCGCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCC CCAAAGCCACCTCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGC CCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGC CACCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCC ACAGCCGCCCCCACAGCCACCCCCCACAGTCACCCCCCCACAGCCACCCC CCCACAGCCGCCCCCACAGCCGCCCCCCACAGCCGCCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACAGCTGCCCCCACAGCCG CCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LHPP_chr10_124456823_124619141	124507236	G G	GGTAGACA others(678): Show GGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG GTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGA TAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGAGGG TAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAGGGT AGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTA GGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAG GGAGTATTTCAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAG ACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGG GAGGATTTCAGGTGTGGGGGGTAGACAGGATTTCAGGTGGGGGGGTAGGG AGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGA GGATTTCAGGTGGGGAGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGG ATTTCAGGTGGGGAGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGATAGGGAGGATTTCAGGTGGGGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	207	0.0048	685	c.624 others(702): Show c.624+9112_624+9113insACAGGATTTCAGGTGTGGAGGGTAGACA GGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAG GATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGG ATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTA TTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGA TTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGAT TTCAGGTGGGGGGATAGGGAGTATTTCAGGTGGGGGGGGTAGGGAGGATT TCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTT CAGGTGGGGGGGGTAGGGAGGATTTCAGGTGTGGGGGGTAGACAGGATTT CAGGTGGGGGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTC AGGTGGGGGGGTAGGGAGGATTTCAGGTGGGGAGTAGGCAGGATTTCAGG TCGGGGGGGTAGACAGGATTTCAGGTGGGGAGGTAGGGAGGATTTCAGGT GTGGAGGGTAGACAGGATTTCAGGTGGGGGGGTAGGGAGGATTTCAGGTG TGGAGGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGGATTTCAGGTGG GGAGTAG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(678): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18980.hp2 NA18998.hp2 others(1): Show HG00558.hp2 NA18980.hp2 NA18998.hp2 NA19076.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0002 a0001c0004t0006 a0003c0005t0002 a0001c0004t0002 a0001c0004t0006 a0003c0005t0002	a0001c0004t0002g0263 a0001c0004t0006g0162 a0001c0004t0006g0203 others(1): Show a0001c0004t0002g0263 a0001c0004t0006g0162 a0001c0004t0006g0203 a0003c0005t0002g0127	4	9	0.4444	685	c.368 others(702): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGTGGC CCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG GCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAA GTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC17_chr7_102908000_102950111	102932560	A A	ATGATTTT others(678): Show ATGATTTTTTTTTAGGTCAGACTTACATAAAATTTATAATGAATTATAAA TAGAGAAGTAGAGGGCCAGAGAGGCTAAGTGACTAGCTCTGGGACCAGAG GCCAGTGCACAGCTTATAATCTCTCAGGGAAAAATGAGACAGCCAGGCTT TTCCTCCTATTCCATATATACATATGTATATATGTATACAAATAGCTAGA TGGCAAAGTGCTTCACAACCAGTGCCCTGAATCTCAGCAGAAAGTAAGTA AAACACCAAATCTGAGACAGAAGAGAAGCAGCTAGGGAGGCTACACAAAC CAGTGATTGGGAGGAAGGCTTGAAGCAAAGAAAAGGGAAGGCATTCTAGG TGGAGACCCCATGAAGCAGGAAAACTCCAGGCAAGAGGGTGATTCTGGTG TTCAAGCTGTCACAACAAATAGAAAACACATTTGCTGCTCATAACCACAT AGCCCCATGCTAATAACAACAGACATGTTAGTAGTTATAAATCCATTCTG AACATTTATTCCTTTGCCAAGAATGGACTGCATCCTAAGTGATATATGCA AACTAGAAATACTTTCAGAATCTTTAAAAAATGAAAAAAATTGTTAAAAA TCTGCACACCCTGGAAGTCCTCAATAATATTTATTAAGGAGAAAATAGAT TTCCCAAGCAATATAAGTTTACAAAATAAATGTTCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0175 a0004c0004t0001g0175	1	14	0.0714	685	c.-14 others(704): Show c.-140-1213_-140-1212insGATTTTTTTTTAGGTCAGACTTACAT AAAATTTATAATGAATTATAAATAGAGAAGTAGAGGGCCAGAGAGGCTAA GTGACTAGCTCTGGGACCAGAGGCCAGTGCACAGCTTATAATCTCTCAGG GAAAAATGAGACAGCCAGGCTTTTCCTCCTATTCCATATATACATATGTA TATATGTATACAAATAGCTAGATGGCAAAGTGCTTCACAACCAGTGCCCT GAATCTCAGCAGAAAGTAAGTAAAACACCAAATCTGAGACAGAAGAGAAG CAGCTAGGGAGGCTACACAAACCAGTGATTGGGAGGAAGGCTTGAAGCAA AGAAAAGGGAAGGCATTCTAGGTGGAGACCCCATGAAGCAGGAAAACTCC AGGCAAGAGGGTGATTCTGGTGTTCAAGCTGTCACAACAAATAGAAAACA CATTTGCTGCTCATAACCACATAGCCCCATGCTAATAACAACAGACATGT TAGTAGTTATAAATCCATTCTGAACATTTATTCCTTTGCCAAGAATGGAC TGCATCCTAAGTGATATATGCAAACTAGAAATACTTTCAGAATCTTTAAA AAATGAAAAAAATTGTTAAAAATCTGCACACCCTGGAAGTCCTCAATAAT ATTTATTAAGGAGAAAATAGATTTCCCAAGCAATATAAGTTTACAAAATA AATGTTCTT	LRRC17	ENSG00000128606.13	transcript	ENST00000339431.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC17_chr7_102908000_102950111	102932560	A A	ATGATTTT others(678): Show ATGATTTTTTTTTAGGTCAGACTTACATAAAATTTATAATGAATTATAAA TAGAGAAGTAGAGGGCCAGAGAGGCTAAGTGACTAGCTCTGGGACCAGAG GCCAGTGCACAGCTTATAATCTCTCAGGGAAAAATGAGACAGCCAGGCTT TTCCTCCTATTCCATATATACATATGTATATATGTATACAAATAGCTAGA TGGCAAAGTGCTTCACAACCAGTGCCCTGAATCTCAGCAGACAGTAAGTA AAACACCAAATCTGAGACAGAAGAGAAGCAGCCAGGGAGGCTACACAAAC CAGTGATTGGGAGGAAGGCTTGAAGCAAAGAAAAGGGAAGGCATTCTAGG TGGAGACCCCATGAAGCAGGAAAACTCCAGGCAAGAGGGTGATTCTGGTG TTCAAGCTGTCACAACAAATAGAAAACACATTTGCTGCTCATAACCACAT AGCCCCATGCTAATAACAACAGACATGTTAGTAGTTATAAATCCATTCTG AACATTTATTCCTTTGCCAAGAATGGACTGCATCCTAAGTGATATATGCA AACTAGAAATACTTTCAGAATCTTTAAAAAATGAAAAAAATTGTTAAAAA TCTGCACACCCTGGAAGTCCTCAATAATATTTATTAAGGAGAAAATAGAT TTCCCAAGCAATATAAGTTTACAAAATAAATGTTCT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0136 a0003c0003t0002g0136	1	14	0.0714	685	c.-14 others(704): Show c.-140-1213_-140-1212insGATTTTTTTTTAGGTCAGACTTACAT AAAATTTATAATGAATTATAAATAGAGAAGTAGAGGGCCAGAGAGGCTAA GTGACTAGCTCTGGGACCAGAGGCCAGTGCACAGCTTATAATCTCTCAGG GAAAAATGAGACAGCCAGGCTTTTCCTCCTATTCCATATATACATATGTA TATATGTATACAAATAGCTAGATGGCAAAGTGCTTCACAACCAGTGCCCT GAATCTCAGCAGACAGTAAGTAAAACACCAAATCTGAGACAGAAGAGAAG CAGCCAGGGAGGCTACACAAACCAGTGATTGGGAGGAAGGCTTGAAGCAA AGAAAAGGGAAGGCATTCTAGGTGGAGACCCCATGAAGCAGGAAAACTCC AGGCAAGAGGGTGATTCTGGTGTTCAAGCTGTCACAACAAATAGAAAACA CATTTGCTGCTCATAACCACATAGCCCCATGCTAATAACAACAGACATGT TAGTAGTTATAAATCCATTCTGAACATTTATTCCTTTGCCAAGAATGGAC TGCATCCTAAGTGATATATGCAAACTAGAAATACTTTCAGAATCTTTAAA AAATGAAAAAAATTGTTAAAAATCTGCACACCCTGGAAGTCCTCAATAAT ATTTATTAAGGAGAAAATAGATTTCCCAAGCAATATAAGTTTACAAAATA AATGTTCTT	LRRC17	ENSG00000128606.13	transcript	ENST00000339431.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC17_chr7_102908000_102950111	102932560	A A	ATGATTTT others(678): Show ATGATTTTTTTTTAGGTCAGACTTACATAAAATTTATAATGAATTATAAA TAGAGAAGTAGAGGGCCAGAGAGGCTAAGTGACTAGCTCTGGGACCAGAG GCCAGTGCACAGCTTATAATCTCTCAGGGAAAAATGAGACAGCCAGGCTT TTCCTCCTATTCCATATATACATATGTATATATGTATACAAATAGCTAGA TGGCAAAGTGCTTCACAACCAGTGCCCTGAATCTCAGCAGACAGTAAGTA AAACACCAAATCTGAGACAGAAGAGAAGCAGCTAGGGAGGCTACACAAAC CAGTGATTGGGAGGAAGGCTTGAAGCAAAGAAAAGGGAAGGCATTCTAGG TGGAGACCCCACGAAGCAGGAAAACTCCAGGCAAGAGGGTGATTCTGGTG TTCAAGCTGTCACAACAAATAGAAAACACATTTGCTGCTCATAACCACAT AGCCCCATGCTAATAACAACAGACATGTTAGTAGTTATAAATCCATTCTG AACATTTATTCCTTTGCCAAGAATGGACTGCATCCTAAGTGATATATGCA AACTAGAAATACTTTCAGAATCTTTAAAAAATGAAAAAAATTGTTAAAAA TCTGCACACCCTGGAAGTCCTCAATAATATTTATTAAGGAGAAAATAGAT TTCCCAAGCAATATAAGTTTACAAAATAAATGTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp2 HG02486.hp2 others(7): Show HG02055.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02895.hp1 HG02965.hp1 HG03209.hp2 NA18522.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0022 a0001c0001t0001g0106 a0001c0001t0001g0110 others(5): Show a0001c0001t0001g0022 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0179 a0001c0012t0001g0144	10	23	0.4348	685	c.-14 others(704): Show c.-140-1213_-140-1212insGATTTTTTTTTAGGTCAGACTTACAT AAAATTTATAATGAATTATAAATAGAGAAGTAGAGGGCCAGAGAGGCTAA GTGACTAGCTCTGGGACCAGAGGCCAGTGCACAGCTTATAATCTCTCAGG GAAAAATGAGACAGCCAGGCTTTTCCTCCTATTCCATATATACATATGTA TATATGTATACAAATAGCTAGATGGCAAAGTGCTTCACAACCAGTGCCCT GAATCTCAGCAGACAGTAAGTAAAACACCAAATCTGAGACAGAAGAGAAG CAGCTAGGGAGGCTACACAAACCAGTGATTGGGAGGAAGGCTTGAAGCAA AGAAAAGGGAAGGCATTCTAGGTGGAGACCCCACGAAGCAGGAAAACTCC AGGCAAGAGGGTGATTCTGGTGTTCAAGCTGTCACAACAAATAGAAAACA CATTTGCTGCTCATAACCACATAGCCCCATGCTAATAACAACAGACATGT TAGTAGTTATAAATCCATTCTGAACATTTATTCCTTTGCCAAGAATGGAC TGCATCCTAAGTGATATATGCAAACTAGAAATACTTTCAGAATCTTTAAA AAATGAAAAAAATTGTTAAAAATCTGCACACCCTGGAAGTCCTCAATAAT ATTTATTAAGGAGAAAATAGATTTCCCAAGCAATATAAGTTTACAAAATA AATGTTCTT	LRRC17	ENSG00000128606.13	transcript	ENST00000339431.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC17_chr7_102908000_102950111	102932560	A A	ATGATTTT others(678): Show ATGATTTTTTTTTAGGTCAGACTTACATAAAATTTATAATGAATTATAAA TAGAGAAGTAGAGGGCCAGAGAGGCTAAGTGACTAGCTCTGGGACCAGAG GCCAGTGCACAGCTTATAATCTCTCAGGGAAAAATGAGACAGCCAGGCTT TTCCTCCTATTCCATATATACATATGTATATATGTATACAAATAGCTAGA TGGCAAAGTGCTTCACAACCAGTGCCCTGAATCTCAGCAGACAGTAAGTA AAACACCAAATCTGAGACAGAAGAGAAGCAGCTAGGGAGGCTACACAAAC CAGTGATTGGGAGGAAGGCTTGAAGCAAAGAAAAGGGAAGGCATTCTAGG TGGAGACCCCATGAAGCAGGAAAACTCCAGGCAAGAGGGTGATTCTGGTG TTCAAGCTGTCACAACAAATAGAAAACACATTTGCTGCTCATAACCACAT AGCCCCATGCTAATAACAACAGACATGTTAGTAGTTATAAATCCATTCCG AACATTTATTCCTTTGCCAAGAATGGACTGCATCCTAAGTGATATATGCA AACTAGAAATACTTTCAGAATCTTTAAAAAATGAAAAAAATTGTTAAAAA TCTGCACACCCTGGAAGTCCTCAATAATATTTATTAAGGAGAAAATAGAT TTCCCAAGCAATATAAGTTTACAAAATAAATGTTCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20905.hp1 HG02735.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0064 a0001c0001t0001g0065	2	15	0.1333	685	c.-14 others(704): Show c.-140-1213_-140-1212insGATTTTTTTTTAGGTCAGACTTACAT AAAATTTATAATGAATTATAAATAGAGAAGTAGAGGGCCAGAGAGGCTAA GTGACTAGCTCTGGGACCAGAGGCCAGTGCACAGCTTATAATCTCTCAGG GAAAAATGAGACAGCCAGGCTTTTCCTCCTATTCCATATATACATATGTA TATATGTATACAAATAGCTAGATGGCAAAGTGCTTCACAACCAGTGCCCT GAATCTCAGCAGACAGTAAGTAAAACACCAAATCTGAGACAGAAGAGAAG CAGCTAGGGAGGCTACACAAACCAGTGATTGGGAGGAAGGCTTGAAGCAA AGAAAAGGGAAGGCATTCTAGGTGGAGACCCCATGAAGCAGGAAAACTCC AGGCAAGAGGGTGATTCTGGTGTTCAAGCTGTCACAACAAATAGAAAACA CATTTGCTGCTCATAACCACATAGCCCCATGCTAATAACAACAGACATGT TAGTAGTTATAAATCCATTCCGAACATTTATTCCTTTGCCAAGAATGGAC TGCATCCTAAGTGATATATGCAAACTAGAAATACTTTCAGAATCTTTAAA AAATGAAAAAAATTGTTAAAAATCTGCACACCCTGGAAGTCCTCAATAAT ATTTATTAAGGAGAAAATAGATTTCCCAAGCAATATAAGTTTACAAAATA AATGTTCTT	LRRC17	ENSG00000128606.13	transcript	ENST00000339431.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC17_chr7_102908000_102950111	102932560	A A	ATGATTTT others(678): Show ATGATTTTTTTTTAGGTCAGACTTACATAAAATTTATAATGAATTATAAA TAGAGAAGTAGAGGGCCAGAGAGGCTAAGTGACTAGCTCTGGGACCAGAG GCCAGTGCACAGCTTATAATCTCTCAGGGAAAAATGAGACAGCCAGGCTT TTCCTCCTATTCCATATATACATATGTATATATGTATACAAATAGCTAGA TGGCAAAGTGCTTCACAACCAGTGCCCTGAATCTCAGCAGACAGTAAGTA AAACACCAAATCTGAGACAGAAGAGAAGCAGCTAGGGAGGCTACACAAAC CAGTGATTGGGAGGAAGGCTTGAAGCAAAGAAAAGGGAAGGCATTCTAGG TGGAGACCCCATGAAGCAGGAAAACTCCAGGCAAGAGGGTGATTCTGGTG TTCAAGCTGTCACAACAAATAGAAAACACATTTGCTGCTCATAACCACAT AGCCCCATGCTAATAACAACAGACATGTTAGTAGTTATAAATCCATTCTG AACATTTATTCCTTTGCCAAGAATGGACTGCATCCTAAGTGATATATGCA AACTAGAAATACTTTCAGAATCTTTAAAAAATGAAAAAAATTGTTAAAAA TCTGCACACCCTGGAAGTCCTCAATAATATTTATTAAGGAGAAAATAGAT TTCCCAAGCAATATAAGTTTACAAAATAAATGTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(366): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0009 a0001c0011 others(9): Show a0001c0001 a0001c0009 a0001c0011 a0002c0002 a0002c0005 a0003c0003 a0004c0004 a0005c0006 a0006c0008 a0007c0010 a0008c0007 a0009c0013	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0001c0011t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0005c0006t0001 a0006c0008t0001 a0007c0010t0001 a0008c0007t0001 a0009c0013t0004	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(209): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0001g0200 a0001c0001t0003g0010 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0009t0001g0006 a0001c0011t0001g0150 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0176 a0002c0002t0001g0182 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0189 a0002c0002t0001g0190 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0197 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0214 a0002c0002t0001g0216 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0005t0001g0008 a0002c0005t0001g0204 a0002c0005t0001g0209 a0002c0005t0001g0215 a0002c0005t0001g0219 a0002c0005t0001g0220 a0002c0005t0001g0221 a0002c0005t0001g0222 a0002c0005t0001g0223 a0002c0005t0001g0224 a0002c0005t0001g0225 a0002c0005t0001g0226 a0002c0005t0001g0231 a0003c0003t0001g0032 a0003c0003t0001g0045 a0003c0003t0001g0096 a0003c0003t0001g0098 a0003c0003t0001g0099 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0164 a0003c0003t0001g0177 a0003c0003t0001g0201 a0003c0003t0002g0005 a0003c0003t0002g0007 a0003c0003t0002g0035 a0003c0003t0002g0036 a0003c0003t0002g0097 a0003c0003t0002g0105 a0003c0003t0002g0129 a0003c0003t0002g0130 a0003c0003t0002g0131 a0003c0003t0002g0132 a0003c0003t0002g0133 a0003c0003t0002g0134 a0003c0003t0002g0135 a0003c0003t0002g0137 a0003c0003t0002g0151 a0003c0003t0002g0158 a0003c0003t0002g0159 a0004c0004t0001g0003 a0004c0004t0001g0015 a0004c0004t0001g0023 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0138 a0004c0004t0001g0139 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0160 a0004c0004t0001g0165 a0004c0004t0001g0166 a0004c0004t0001g0167 a0004c0004t0001g0168 a0004c0004t0001g0169 a0004c0004t0001g0170 a0004c0004t0001g0171 a0004c0004t0001g0172 a0004c0004t0001g0173 a0004c0004t0001g0174 a0004c0004t0001g0178 a0004c0004t0001g0195 a0004c0004t0001g0196 a0005c0006t0001g0217 a0005c0006t0001g0218 a0006c0008t0001g0016 a0007c0010t0001g0213 a0008c0007t0001g0026 a0009c0013t0004g0047	369	382	0.9660	685	c.-14 others(704): Show c.-140-1213_-140-1212insGATTTTTTTTTAGGTCAGACTTACAT AAAATTTATAATGAATTATAAATAGAGAAGTAGAGGGCCAGAGAGGCTAA GTGACTAGCTCTGGGACCAGAGGCCAGTGCACAGCTTATAATCTCTCAGG GAAAAATGAGACAGCCAGGCTTTTCCTCCTATTCCATATATACATATGTA TATATGTATACAAATAGCTAGATGGCAAAGTGCTTCACAACCAGTGCCCT GAATCTCAGCAGACAGTAAGTAAAACACCAAATCTGAGACAGAAGAGAAG CAGCTAGGGAGGCTACACAAACCAGTGATTGGGAGGAAGGCTTGAAGCAA AGAAAAGGGAAGGCATTCTAGGTGGAGACCCCATGAAGCAGGAAAACTCC AGGCAAGAGGGTGATTCTGGTGTTCAAGCTGTCACAACAAATAGAAAACA CATTTGCTGCTCATAACCACATAGCCCCATGCTAATAACAACAGACATGT TAGTAGTTATAAATCCATTCTGAACATTTATTCCTTTGCCAAGAATGGAC TGCATCCTAAGTGATATATGCAAACTAGAAATACTTTCAGAATCTTTAAA AAATGAAAAAAATTGTTAAAAATCTGCACACCCTGGAAGTCCTCAATAAT ATTTATTAAGGAGAAAATAGATTTCCCAAGCAATATAAGTTTACAAAATA AATGTTCTT	LRRC17	ENSG00000128606.13	transcript	ENST00000339431.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(678): Show GGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGGGAAAAGGGGAGGAGGCG GAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAG AGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAG AGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGG AGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGG GGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGA GAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGGGGAAAAAGGGGGAG GAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGG AAGGGGAAAAGGGGGAGGAGGCGGAGCAGTAGGGGGAGGAGAGTGAGGAG GGGAAGGATGGGGAGGAGGGAAAAGAGGAGGAGGGGGAGGAGGAAGAGAA GGAAGGGGAGAAAGAAGAGGAGGAGGAGAGTGGAAAGGGGAGGAGAAGGG TGAGGACAGGGAAGAGGGGGAAAGGAGGGTGAGGAGGAGGGAGAGAAGAG AGAGAAGGAAGAGAAAGAGGGGGAGAGGAGGGTAAGGAGGAGGGAGAGAA GGGAGAGGAGGAACAGGAGGAAGAGGAGGGGGAGGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	8	0.1250	685	c.641 others(700): Show c.641+260_641+261insTCCTCCCCCTCCTCTTCCTCCTGTTCCTCC TCTCCCTTCTCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCC TTCTCTCTCTTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTG TCCTCACCCTTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCC CCTTCCTTCTCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATC CTTCCCCTCCTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTT CCCCTTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTC CGCCTCCTCCCCCTTTTTCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCC CTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTC CTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCT CTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCAC TCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCC CCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTA CTGCTCCGCCTCCTCCCCTTTTCCCCCTCCTCCCCCCTTCTCTCACTCCT CCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(678): Show GGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAA GGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAG GGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGG GGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGG GGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGG AGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGG AGGGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGG AGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGG AGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGG GAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGA GGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGG AGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	213	0.0047	685	c.250 others(700): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCCCC TCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCT TCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCC CTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCC TCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCT CCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCT CCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCC CTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCTTCC CCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTT TCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCC CTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(678): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGG AAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGG TGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGAGGGGAGGGGAGT GGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGG GAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGAG GGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGGAGTGGAGGGGAGG GGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAG GGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	8	0.1250	685	c.250 others(700): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTC CCTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCT CCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCC CCCTCCACTCCCCTCCCCTCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCC CTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(678): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAG TGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAG GGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGAGG GGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAG GGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	8	0.1250	685	c.250 others(700): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCT CCCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCC CTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(678): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGGAAGGGGGAAAGGGGTGGGGGG AAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGG TGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGGGAG GGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAG TGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAG GGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGAGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGAGG GGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAG GGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	8	0.1250	685	c.250 others(700): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCTCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTC CCCTCACCCCTTTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCC CCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCCGCCCCTTTTCCCCCCT TCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCTCCCCTCCCC CTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCC CCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(678): Show TCTGCTCTCCCCTCCCCTCTTCCCTCCCCTCTCCCCTCCCCCTCCCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTC CCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCCCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCC CTCCTCCCCTCCTCCCCTCCCCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCTCCCCT CCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTC CTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCT CCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCC TCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCT CCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0011 a0011	a0011c0026 a0011c0026	a0011c0026t0001 a0011c0026t0001	a0011c0026t0001g0011 a0011c0026t0001g0011	1	4	0.2500	685	c.114 others(704): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCTTCCCTCCCC TCTCCCCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCC CCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTC CCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCTCCTCTCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCC CTCCTCCTCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCC TCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTC CCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCC CCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCC TCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(678): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGG GGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTG GGGGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0112 a0001c0024t0001g0112	1	32	0.0313	685	c.241 others(704): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCC CGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
NOTCH1_chr9_136489433_136551048	136534885	C C	CCCCCCAG others(678): Show CCCCCCAGTCCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCC CCCGAGTCCGTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCC AGTCCCTCCCCACAGAGCCAAGTCCCTCCCCACAGAGCCCCCCCAGTCCC TCCCCAGAGCCCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCA CAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCC CAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGT CCCTCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCC TCCCCACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCAC AGAGCCCCCAAGTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCC CCCCAGTCCCCCCCCACAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACT GGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCAC AGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCTCCAGT CCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0071 a0001c0011t0002g0071	1	322	0.0031	685	c.140 others(702): Show c.140+9138_140+9139insCTCTGTGGGGAGGGACTGGGGGCTCTGT GGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCG GGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGAGCC TGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCTGTGGGGGGG GACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGGACGGACTTG GGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGACTCGGGCTC TGTGGGGAGGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTG GGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGGGC TCTGGGGAGGGACTGGGGGGGCTCTGTGGGGAGGGACTTGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGACG GACTCGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGGA CTGGGGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5DC3_chr12_103767310_103846234	103840379	T T	TCATCCCA others(678): Show TCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCCATCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0354 a0001c0005t0004g0354	1	384	0.0026	685	c.208 others(700): Show c.208+569_208+570insGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATG GGATG	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding	1/13			chr12	TogoVar
PCDH15_chr10_53797771_54806231	54332298	A A	ATATTATT others(678): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTATATATAATATAATATAATCTATATTATATAT TACTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATATATAATATAATATAATCTATATTA TATATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	93	0.0108	685	c.595 others(702): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATATAATATAGATTATATTATATT ATATATAATATATAATATAGATTATATTATATTATATATAATATATAATA TAGATTATATTATATTATATATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATATAATAATATATAATATAGA TTATATTATATTATATATAATATTATATAATATAGATTATATAATATTAT ATATAATAATATATAATATAGATTATATTATATTATATATAATAATATAT AATATATATTATATTATATTATATATAATAATATATAATATAGATTATAT ATATATTATATATAATAATATATAATATAGATTATATATATATTATATAT AATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53797771_54806231	54332334	A A	ATATTATT others(678): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATAATATAATATATATTATATATTATTATATATAATATAATATAAT CTATATTATATATTATTATATATAATATTATATAATCTATATTATATAAT ATTATATATAATATAATATAATCTATATTATATATTATTATATATAATAT AATCTATATTATATATTATATATAATATAATATAATCTATATTATATATT ATATATAATATAATATAATCTATATTATATATTATATATAATATAATATA ATCTATATTATATATTATATATAATATAATATAATCTATATTATATATTA TATATAATATAATATAATCTATATTATATATTATATATAATATAATATAA TCTATATTATATATTATATATAATATAATATAATCTATATTATATATTAT ATATAATATAATATAATCTATATTATATATTACTATATATAATATAATAT AATCTATATTATATATTATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATTATATATAATAT AATCTATATTATATATTATTATATATAATATAATCTATATTATATATTAT TATTATATATAATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0054 a0004c0004t0005g0054	1	90	0.0111	685	c.595 others(702): Show c.595-2629_595-2628insATATATAATATAGATTATATTATATTAT ATATAATAATAATATATAATATAGATTATATTATATATAATAATATATAA TATAGATTATATTATATATAATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATAATATATAA TATAGATTATATTATATTATATATAGTAATATATAATATAGATTATATTA TATTATATATAATATATAATATAGATTATATTATATTATATATAATATAT AATATAGATTATATTATATTATATATAATATATAATATAGATTATATTAT ATTATATATAATATATAATATAGATTATATTATATTATATATAATATATA ATATAGATTATATTATATTATATATAATATATAATATAGATTATATTATA TTATATATAATATATAATATAGATTATATTATATTATATATAATATATAA TATAGATTATATTATATATAATAATATATAATATAGATTATATTATATTA TATATAATATTATATAATATAGATTATATAATATTATATATAATAATATA TAATATAGATTATATTATATTATATATAATAATATATAATATATATTATA TTATATTATATATAATAATATATAATATAGATTATATATATATTATATAT AATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332298	A A	ATATTATT others(678): Show ATATTATTATATATAATATATATATAATCTATATTATATATTATTATATA TAATATATATATAATCTATATTATATATTATTATATATAATATAATATAA TATATATTATATATTATTATATATAATATAATATAATCTATATTATATAT TATTATATATAATATTATATAATCTATATTATATAATATTATATATAATA TAATATAATCTATATTATATATTATTATATATAATATAATCTATATTATA TATTATATATAATATAATATAATCTATATTATATATTATATATAATATAA TATAATCTATATTATATATTATATATAATATAATATAATCTATATTATAT ATTATATATAATATAATATAATCTATATTATATATTATATATAATATAAT ATAATCTATATTATATATTATATATAATATAATATAATCTATATTATATA TTATATATAATATAATATAATCTATATTATATATTATATATAATATAATA TAATCTATATTATATATTATATATAATATAATATAATCTATATTATATAT TACTATATATAATATAATATAATCTATATTATATATTATTATATATAATA TAATATAATCTATATTATATATTATATATAATATAATATAATCTATATTA TATATTATTATATATAATATAATCTATATTATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	86	0.0116	685	c.595 others(702): Show c.595-2593_595-2592insATATATAATATAGATTATATTATATATA ATAATATATAATATAGATTATATTATATTATATATAATATATAATATAGA TTATATTATATTATATATAATAATATATAATATAGATTATATTATATTAT ATATAGTAATATATAATATAGATTATATTATATTATATATAATATATAAT ATAGATTATATTATATTATATATAATATATAATATAGATTATATTATATT ATATATAATATATAATATAGATTATATTATATTATATATAATATATAATA TAGATTATATTATATTATATATAATATATAATATAGATTATATTATATTA TATATAATATATAATATAGATTATATTATATTATATATAATATATAATAT AGATTATATTATATTATATATAATATATAATATAGATTATATTATATTAT ATATAATATATAATATAGATTATATTATATATAATAATATATAATATAGA TTATATTATATTATATATAATATTATATAATATAGATTATATAATATTAT ATATAATAATATATAATATAGATTATATTATATTATATATAATAATATAT AATATATATTATATTATATTATATATAATAATATATAATATAGATTATAT ATATATTATATATAATAATATATAATATAGATTATATATATATTATATAT AATAATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PLEKHN1_chr1_961482_980865	976810	G G	GCAACCCC others(678): Show GCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCT CCCACTCCCCCGACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCA CTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGA ACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGC AACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	79	0.0127	685	c.22 others(696): Show c.2235_*2236insCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCGACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC GGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTGCCCCCG CCACCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCC TCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCC A	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		946		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977059	C C	CCCCACCA others(678): Show CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCACCAACCCCGGGAAC CGCCTCCCACTCCCCCCACCAACCCGGGAACCGCCTCCCACTCCCCCCAC CAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCT GCCCCGCCACCAACCCCGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGC CTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAA CCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCC ACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGG GAACCGCCTCCCACTCCCCCCCACAACCCCGGGAACCGCCTCCCACTCCC CCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCG CCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCA ACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCACCAACCCCGGGAACCGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0001 a0001c0007t0001g0001	1	420	0.0024	685	c.24 others(696): Show c.2484_*2485insCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC ACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCCGGGAACCGCC TCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAA CCCCGGGAACCGCCTGCCCCGCCACCAACCCCGGAACCGCCTCCCACTCC CCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACC AACCCCGGGAACCGCCTCCCACTCCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACCC CGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTC CCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCCACAACCCCGGGAA CCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCG CAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTC CCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCAC T	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1195		chr1	TogoVar
PWWP2B_chr10_132392200_132422859	132419651	G G	GGGGGGCC others(678): Show GGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGG AGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGG CCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGG GGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGT CTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGA GGAGGGGTCTCCTGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGG GCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGG GGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGG TCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGA GGAGGGGTCTCCTGGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGG GGCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGAGGAGGGGTCTCCTGG GGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTC TCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0111 a0003c0008t0001g0111	1	270	0.0037	685	c.26 others(696): Show c.2607_*2608insGGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG GGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGT CTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGA GGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGG GCCTGGAGGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTG GGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGGCCTGGAGGAGGG GTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGA GGAGGGGTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGAGG GGCCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTG GGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGGGCCTGGAGGAGGG GTCTCCTGGGGGAGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGCCTGGA GGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGGGGGGGG CCTGGAGGAGGGGTCTCCTGGGGGGGGGCCTGGAGGAGGGGTCTCCTGGG A	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1793		chr10	TogoVar
RFC1_chr4_39282456_39371362	39348450	A A	AAAGGGAA others(678): Show AAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	266	0.0038	685	c.132 others(702): Show c.132+2897_132+2898insCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPH3AL_chr17_207389_357807	218333	T T	TTGGGGCA others(678): Show TTGGGGCAGTTATTACAGAGCCCTTCTTCTGCGCTAAAATTGGCCTCACT GGAATCAGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATG GAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCGCTGAAATCAGGACCT CCAAGGCATTTCATTCCCATCTGGGGCAGTTATTACAGAGCCCTTCTTCT GTGCTAAAATTGGCCTCACTGAAATCAGGACCCCCAAGGCATTTCGTTCC CATCTGGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGG CCTCGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTTGGGGCAGT TATTATGGAGCCCGTTCTTCTTCTGCACTAAAATTGGCCTCACTGGAATC AGGACCCCCAAGGCATTTCGTTCCCATCTGGGGCAGTTATTATGGAGCCC TTTCTTCTGCACTAAAATTGGCCTGGCTGAAATCAGGACCCCCAAGGCAT TTCATTCCTGTTTGGGGCAGTTATTATGGAGCCCGTTCTTCTTCTGCACT AAAATTGGCCTGGCTGAAATCAGGACCCCCAAGGCATTTCATTCCTGTTT GGGGCAGTTATTATGGAGCCCTTTCTTCTTCTGCACTAAAATTGGCCTCG CTGAAATCAGGACCCCCAAGGCATTTCATTCCCATC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0100 a0001c0001t0005g0100	1	61	0.0164	685	c.727 others(702): Show c.727+1289_727+1290insGATGGGAATGAAATGCCTTGGGGGTCCT GATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATA ACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGATTTCAGCCAGG CCAATTTTAGTGCAGAAGAAGAACGGGCTCCATAATAACTGCCCCAAACA GGAATGAAATGCCTTGGGGGTCCTGATTTCAGCCAGGCCAATTTTAGTGC AGAAGAAAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTG GGGGTCCTGATTCCAGTGAGGCCAATTTTAGTGCAGAAGAAGAACGGGCT CCATAATAACTGCCCCAAACAGGAATGAAATGCCTTGGGGGTCCTGATTT CAGCGAGGCCAATTTTAGTGCAGAAGAAGAAAGGGCTCCATAATAACTGC CCCAGATGGGAACGAAATGCCTTGGGGGTCCTGATTTCAGTGAGGCCAAT TTTAGCACAGAAGAAGGGCTCTGTAATAACTGCCCCAGATGGGAATGAAA TGCCTTGGAGGTCCTGATTTCAGCGAGGCCAATTTTAGTGCAGAAGAAGA AAGGGCTCCATAATAACTGCCCCAGATGGGAACGAAATGCCTTGGGGGTC CTGATTCCAGTGAGGCCAATTTTAGCGCAGAAGAAGGGCTCTGTAATAAC TGCCCCA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	8/9			chr17	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(678): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCT AAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGA GGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGA GGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAAC AGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGA GGCACAGGAGGAGGAGGAGGAGGCACAGGAGGAGGAGGAGGAAGCACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0058 a0001c0002t0001g0058	1	149	0.0067	685	c.-12 others(704): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCCTCCTCCTCCTCCTGTGCCTCCTCCTCCTC CTCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTC TTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCC ACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCC TCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTCC CCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCT CCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(678): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	40	0.0250	685	c.77- others(702): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCAC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCC CTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(678): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCC TCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTC CCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCCCCTCCC CCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	45	0.0222	685	c.22+ others(702): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC TCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCAC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCCTCC CCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCC CTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC6A3_chr5_1387794_1450440	1414431	A A	ACTGGGTG others(678): Show ACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCTGGAGGGG CAGGGCGGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGG AAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGT GGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGA GGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGG GGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0271 a0001c0007t0001g0271	1	315	0.0032	685	c.115 others(702): Show c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGG CCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGC CCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCC GGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCC AGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTC CCGGCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCT CCGCCCTGCCCCTCCAGGCCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414460	G G	GGGGAAGG others(678): Show GGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGG GCAGAGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGG CAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGG GGCAGGGCGGGGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGG GAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	330	0.0030	685	c.115 others(702): Show c.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCCA GCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCCCC GCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTC CAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCAC CCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC CTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCC TCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCC ACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTT CCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTG CCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCCC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(678): Show GAGGGAGGCAGGGAGGGAGCGAGGGAGAGGGAGGCAAGGAGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGCAAGGAGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGACGGAGGGAGGGTGGGAGGGAGGGAGACGGAGGGAGGGTGGGA GGGAGGGAGACGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGG GAGGGAGGGAGAGGGAGGGTGGGAGGGAGGGAGGGAGAGGGAGGGTGGGA GGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGG GAGGCAGGGAGGCAGGGAGAGGGGGAGGCAGGGAGGGAGGGAGAGGGAGG CAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGA GGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGGAGG GAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGAGGGAGG CAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAGGGG GAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0016 a0001c0015t0016 a0001c0003t0016 a0001c0015t0016	a0001c0003t0016g0050 a0001c0015t0016g0089 a0001c0003t0016g0050 a0001c0015t0016g0089	2	3	0.6667	685	c.227 others(704): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCC TCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTCCCTGCC TCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCC TGTCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCC TCCCTCTCCCTCCCACCCTCCCTCTCCCTCCCTCCCTCCCACCCTCCCTC TCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCG TCTCCCTCCCTCCCACCCTCCCTCCGTCTCCCTCCCTCCCACCCTCCCTC CGTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCC TCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTCCCTCCC TGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(678): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAA TATATTATATATAATATGCATATTATATGTATTATATATTATATATTATA TATATAATATACATATTATATGTATTATATATTATATATTATATATAATA TACATATTATATGTATTATATATTATATATAATATACATATATATTATAT ATTATATACATATTATATATTATATACATATTATATATTATATACATATT ATATATTATATATTATATACATATTATACATTATATATATCTAAAATATA TAATACACATTATATATTATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATATAATACACAT TATATATTATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATACACATTATATATTATATATAATATACATTATATATTAT ATAATACACATTATATATTATATATAATACACATTATATATATAATACAC ATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0064 a0001c0002t0002g0064	1	82	0.0122	685	c.62 others(696): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATGTATATA ATATATAATATATATGTATATTATATATAATATATAATACATATAATATG TATATTATATATAATATATAATATATAATACATATAATATGTATATTATA TATATAATATATAATATATAATACATATAATATGCATATTATATATAATA TATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATAGGTATAT TTTATATATAATAGGTATATTATATATAATAGGTATATTATATATATAAT A	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THBS2_chr6_169210785_169258846	169242718	T T	TTCCCACC others(678): Show TTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCT TCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCAC TCCCACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTT CCCACCTTCCCACCACTCCCACCTTCCCAGTGCTCCCATCTTCCCACCAC TCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCCACCACTCCCACCTT CCCAGTGCTCCCATCTTCCCACCACTCCCACCTTCCCATCTTCCCATCTT CCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTC CCACTGCTCCCACCTTCCCACCTTCCCACATTCGCACCTTCCCACCTTCC CACATTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCC ACCACTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCA CCACTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCA CCTTCCCACTGCTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCA CCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCAC CACTCCCACCTTCCCACCTTCCCACCTTCCCACCGC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0282 a0001c0004t0003g0282	1	363	0.0028	685	c.695 others(700): Show c.695-761_695-760insGCGGTGGGAAGGTGGGAAGGTGGGAAGGTG GGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTG GGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGCAGTG GGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGG GAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGG AGTGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGG AATGTGGGAAGGTGGGAAGGTGCGAATGTGGGAAGGTGGGAAGGTGGGAG CAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAA GGTGGGAAGATGGGAAGATGGGAAGGTGGGAGTGGTGGGAAGATGGGAGC ACTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGATGGGAGCACTGGGAAGGTGGGAGTGGTGGGAA GGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG ATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGG TGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(678): Show TCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCT CCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC TCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA20805.hp1 HG02735.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0049 a0001c0001t0002g0042 a0001c0001t0002g0049	2	20	0.1000	685	c.803 others(702): Show c.803-1579_803-1578insCTCTCTCTCCTCTCTCTCTCCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTCT CTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTC TCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTTCTCTCTC TCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTC TCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTC TCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTC CTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507168	C C	CATACGTA others(678): Show CATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAAT GTATATATGTATATATACATGTATTATACATACGTAAATGTATATATGTA TATATACATGTATTATACATACGTAAATGTATATATGTATATATACATGT ATTATACATACGTAAATGTATATATGTATATATACATGTATTATACATAC GTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTATA TATGTATATATACATGTATTATACATACGTAAATGTATATATGTATATAT ACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATTAT ACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAA TGTATAATGTATATATACATGTATTATACATACGTAAATGTATAATGTAT ATATACATTATACATACGTAAATGTATAATGTATAATGTATATATACATT ATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAATGT ATAATGTATATATACATTATACATACGTAAATGTATAATGTATATATATA CATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAA ATGTATATATATACATTATACATACGTAAATGTATT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	329	0.0030	685	c.-23 others(702): Show c.-23+2879_-23+2880insAATACATTTACGTATGTATAATGTATAT ATATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTAT GTATAATGTATATATATACATTATACATTTACGTATGTATAATGTATATA TACATTATACATTTACGTATGTATAATGTATATATACATTATACATTTAC GTATGTATAATGTATATATACATTATACATTATACATTTACGTATGTATA ATGTATATATACATTATACATTTACGTATGTATAATACATGTATATATAC ATTATACATTTACGTATGTATAATACATGTATATATACATATATACATTT ACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTATA ATACATGTATATATACATATATACATTTACGTATGTATAATACATGTATA TATACATATATACATTTACGTATGTATAATACATGTATATATACATATAT ACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGTA TGTATAATACATGTATATATACATATATACATTTACGTATGTATAATACA TGTATATATACATATATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTAT	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(678): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02897.hp2 HG02258.hp1 HG02897.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0064 a0002c0003t0082 a0001c0001t0064 a0002c0003t0082	a0001c0001t0064g0077 a0002c0003t0082g0047 a0001c0001t0064g0077 a0002c0003t0082g0047	2	99	0.0202	685	c.41- others(702): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATTATATCATCATATGATGA TATGATACTATTATATCATCATATGATGATATGATACTATTATATCATCA TATGATGATATGATACTATATCATCATATGATGATATGATACTATATCAT CATATGATGATATGATACTATATCATCATATGATGATATGATACTATATC ATCATATGATGATATGATACTATATCATCATATGATGATATGATACTATA TCATCATATGATGATATGATACTATATCATCATATGATGATATGATATAC TATATCATCATATGATGATATGATATACTATATCATCATATGATGATATG ATATACTATATCATCATATGATGATATGATATACTATATCATCATATGAT GATATGATATACTATATCATCATATGATGATATGATATACTATATCATCA TATGATGATATGATATACTATATCATCATATGATGATATGATATACTATA TCATCATATGATGATATGATATACTATATCATCATATGATGATATGATAT ACTATATCATCATATGATGATATGATATACTATATCATCATATGATGATA TGATATACTATATCATCATATGATGATATGATATACTATATCATCATATG ATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TUBGCP3_chr13_112480011_112593153	112539766	C C	CAACATCA others(678): Show CAACATCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGAC ACCTGGGAATGAGGATGTCAATGCAGTAGCCTATGAGCATTCAGATGGTC TTGGGAAAGGATACCTGGGAATGATGACATCAATGTAGTAGCCTATGAGC CTTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAG TAGCCCTATGAGCATTCAGATGATCTTGGGAAAGGACACCTGGGAATGAG GATGTCAATATAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATA CCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCT TGGGAAAGGATACCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCA TTCAGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGT AGCCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATG ACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATAC CTGGGAATGAGGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTT GGGAAAGGACACCTGGGAATGAGGACGTCAATATAGTAGCCCTATGAGCA TTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0252 a0001c0004t0001g0252	1	310	0.0032	685	c.133 others(704): Show c.1335+5932_1335+5933insATCACTCCCAGGTATCCTTTCCCAAG ACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCCAGGT GTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCC TCATTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACT ACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGC TCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCCAAG ACCACCTGAATGCTCATAGGCTACTACATTGACGTCATCACTCCCAGGTA TCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCAT CACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTA TATTGACATCCTCATTCCCAGGTGTCCTTTCCCAAGATCATCTGAATGCT CATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCCAAGA CCACCTGAAGGCTCATAGGCTACTACATTGATGTCATCATTCCCAGGTAT CCTTTCCCAAGACCATCTGAATGCTCATAGGCTACTGCATTGACATCCTC ATTCCCAGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTAC ATTGATGTT	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112539770	A A	ATCAATGT others(678): Show ATCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCT GGGAATGAGGATGTCAATGCAGTAGCCTATGAGCATTCAGATGGTCTTGG GAAAGGACACCTGGGAATGATGACATCAATGTAGTAGCCTATGAGCCTTC AGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGC CCTATGAGCATTCAGATGATCTTGGGAAAGGACACCTGGGAATGAGGATG TCAATATAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTG GGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGG AAAGGATACCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCA GGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGCC CTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACGT CAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGG GAATGAGGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGA AAGGACACCTGGGAATGAGGACGTCAATATAGTAGCCCTATGAGCATTCA GGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0017 a0001c0005t0002g0017	1	231	0.0043	685	c.133 others(704): Show c.1335+5928_1335+5929insCGTCATCACTCCCAGGTATCCTTTCC CAAGACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCC AGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGAC GTCCTCATTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGC TACTACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGA ATGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCC CAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCATCACTCCCA GGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACG TCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTATATTGACATCCTCATTCCCAGGTGTCCTTTCCCAAGATCATCTGAA TGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCC AAGACCACCTGAAGGCTCATAGGCTACTACATTGATGTCATCATTCCCAG GTGTCCTTTCCCAAGACCATCTGAATGCTCATAGGCTACTGCATTGACAT CCTCATTCCCAGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTA CTACATTGA	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
TUBGCP3_chr13_112480011_112593153	112539770	A A	ATCAATGT others(678): Show ATCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGACACCT GGGAATGAGGATGTCAATGCAGTAGCCTATGAGCATTCAGATGGTCTTGG GAAAGGATACCTGGGAATGATGACATCAATGTAGTAGCCTATGAGCCTTC AGGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGC CCTATGAGCATTCAGATGATCTTGGGAAAGGACACCTGGGAATGAGGATG TCAATATAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTG GGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGG AAAGGATACCTGGGAGTGATGACGTCAATGTAGTAGCCTATGAGCATTCA GGTGGTCTTGGGAAAGGACACCTGGGAATGAGGACGTCAATGTAGTAGCC CTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACGT CAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGG GAATGAGGACGTCAATGTAGTAGCCTATGAGCATTCAGGTGGTCTTGGGA AAGGACACCTGGGAATGAGGACGTCAATATAGTAGCCCTATGAGCATTCA GGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG02965.hp1 others(7): Show HG02717.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG06807.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0005 a0001c0008 a0001c0004 a0001c0005 a0001c0008	a0001c0004t0001 a0001c0005t0002 a0001c0008t0008 a0001c0004t0001 a0001c0005t0002 a0001c0008t0008	a0001c0004t0001g0255 a0001c0004t0001g0256 a0001c0004t0001g0257 others(7): Show a0001c0004t0001g0255 a0001c0004t0001g0256 a0001c0004t0001g0257 a0001c0004t0001g0258 a0001c0004t0001g0259 a0001c0005t0002g0013 a0001c0005t0002g0014 a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0008t0008g0018	10	240	0.0417	685	c.133 others(704): Show c.1335+5928_1335+5929insCGTCATCACTCCCAGGTATCCTTTCC CAAGACCACCTGAATGCTCATAGGGCTACTATATTGACGTCCTCATTCCC AGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGAC GTCCTCATTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGC TACTACATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGA ATGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCC CAAGACCACCTGAATGCTCATAGGCTACTACATTGACGTCATCACTCCCA GGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTACATTGACG TCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCT ACTATATTGACATCCTCATTCCCAGGTGTCCTTTCCCAAGATCATCTGAA TGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTCCTTTCCC AAGACCACCTGAAGGCTCATAGGCTACTACATTGATGTCATCATTCCCAG GTATCCTTTCCCAAGACCATCTGAATGCTCATAGGCTACTGCATTGACAT CCTCATTCCCAGGTGTCCTTTCCCAAGACCACCTGAATGCTCATAGGCTA CTACATTGA	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(678): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACATATATATACACATATACACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTATATATATACGTATATATG TGTATATATACGTATATATATACACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATATACGTATATA TACATATATACGTATATATATACGTATATATACATATATACATGTATATA TATATATACGTATATATACATATATACATGTATATATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	183	0.0055	685	c.-42 others(696): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACATATATATACACATATACAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTATAT ATATACGTATATATGTGTATATATACGTATATATATACACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATATACGTATATATACATATATACGTATATATATACGTATATATACAT ATATACATGTATATATATATATACGTATATATACATATATACATGTATAT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATGTGTATATATACATGTATATATACAC A	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(678): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATACGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATACACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTATATATATACGTATATATG TGTATATATACGTATATATATACACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATATACGTATATA TACATATATACGTATATATATACGTATATATACATATATACATGTATATA TATATATACGTATATATACATATATACATGTATATATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02970.hp1 HG02647.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0212 a0001c0001t0002g0207 a0001c0001t0002g0212	2	184	0.0109	685	c.-42 others(696): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATACGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATACAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTATAT ATATACGTATATATGTGTATATATACGTATATATATACACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATATACGTATATATACATATATACGTATATATATACGTATATATACAT ATATACATGTATATATATATATACGTATATATACATATATACATGTATAT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATGTGTATATATACATGTATATATACAC A	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(678): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATATGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTATATATATACGTATATATACATGTATATA TACGTACGTATATATACATGTATATATACGTATATATATACGTATATATG TGTATATATACGTATATATATACACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATATACGTATATA TACATATATACGTATATATATACGTATATATACATATATACATGTATATA TATATATACGTATATATACATATATACATGTATATATATATACGTATATA TACATATATACATGTATATATATATACGTATATACACATATATATACATG TATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0223 a0001c0001t0002g0223	1	183	0.0055	685	c.-42 others(696): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATATGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTATATATATACGTAT ATATACATGTATATATACGTACGTATATATACATGTATATATACGTATAT ATATACGTATATATGTGTATATATACGTATATATATACACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATATACGTATATATACATATATACGTATATATATACGTATATATACAT ATATACATGTATATATATATATACGTATATATACATATATACATGTATAT ATATATACGTATATATACATATATACATGTATATATATATACGTATATAC ACATATATATACATGTATATATATGTGTATATATACATGTATATATACAC A	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975232	T T	TTTATATA others(679): Show TTTATATATTTATATATTTATATATTCATAGATAAATATATAAATATATA AATATTTTTATATTTATAGATAAATATATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATAAA TATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTATATATTTTTATATTTATAGATAAATATATAAATATTTATATATTTT TATATTTATAGATAAATATATAAATATTTATATATTTTTATATTTATAGA TAAATATATAAATATTTATATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0011 a0011	a0011c0042 a0011c0042	a0011c0042t0005 a0011c0042t0005	a0011c0042t0005g0081 a0011c0042t0005g0081	1	286	0.0035	686	c.130 others(705): Show c.1308+1344_1308+1345insCTATAAATATAAAAATATATAAATAT TTATATATTTATCTATAAATATAAAAATATATAAATATTTATATATTTAT CTATAAATATAAAAATATATAAATATTTATATATTTATCTATAAATATAA AAATATATAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAA ATATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATATATTTATCTATAAAT ATAAAAATATTTATATATTTATATATTTATCTATGAATATATAAATATAT AAATATATAA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(679): Show ATAAATATATAAATATATACATATTTATATATTTATAGATAAATATATAA ATATTTATATATTTATAGATAAATGTATAAATATTTTTATATTTATACAT AAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0180 a0001c0002t0025g0180	1	160	0.0063	686	c.130 others(705): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATGTATAAATATAAAAATA TTTATACATTTATGTATAAATATAAAAATATTTATACATTTATCTATAAA TATATAAATATTTATATATTTATCTATAAATATATAAATATGTATATATT TATATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975544	T T	TATAAATA others(679): Show TATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATAAA TATATAAATATTTTTATATTTATAAATATATAAATATTTTTATATTTATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATCAATATATAAATATTTTTATATTTATAGATAAA TATATCAATATATAAATATTTTTATATTTATAGATAAATATATCAATATA TAAATATTTTTATATTTATAGATAAATATATCAATATATATTTTTATATT TATAGATAAATATATAAATATTTTTATATTTATAGATAAATATATAAATA TTTTTATATTTATAAATATATAAATATTTTTATATTTATAAATATATAAA TATTTTTATATTTATAGATAAATATATAAATATTTTTATATTTATAGATA AATATATAAATATTTTTATATTTATAGATAAATATATAAATATTTTTATA TTTATAGATAAATATATAAATATTTTTATATTTATAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0180 a0001c0002t0025g0180	1	160	0.0063	686	c.130 others(705): Show c.1308+1032_1308+1033insCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATAAATATAAAAATATTTATATATTTAT AAATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATAT ATTTATCTATAAATATAAAAATATATATTGATATATTTATCTATAAATAT AAAAATATTTATATATTGATATATTTATCTATAAATATAAAAATATTTAT ATATTGATATATTTATCTATAAATATAAAAATATTTATATATTGATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATCTATAAATATAAAAATATTTATATATTTATCTATAA ATATAAAAATATTTATATATTTATCTATAAATATAAAAATATTTATATAT TTATCTATAAATATAAAAATATTTATATATTTATCTATAAATATAAAAAT ATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAAAA ATATTTATATATTTATAAATATAAAAATATTTATATATTTATAAATATAA AAATATTTAT	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABR_chr17_998519_1184981	1173247	A A	ACATCACC others(679): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACC TCAGTCCACCCCCCACACGTCACCTCAGTCCACCCCCCCGACATCACCTC AGCCCACCCCCCCCACACATCACCTCAGTCCACCCAACACATCACCTCAG CCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCA CCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGTCCACC CCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGCCCACC CAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACAC ATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCCCCCCATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCA GCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCAC CCCCCCCATCACCTCAGCCCACCCCCCCATCACCTCAGCCCACCCAACAC ATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACC TCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0090 a0001c0003t0079 a0001c0001t0090 a0001c0003t0079	a0001c0001t0090g0287 a0001c0003t0079g0288 a0001c0001t0090g0287 a0001c0003t0079g0288	2	203	0.0099	686	c.61+ others(701): Show c.61+6419_61+6420insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGTGGGCTGAGGTGAT GGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTG GGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACTG AGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGATG TCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGTG TGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGG GTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAG GTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(679): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTATGTAT AGTATATATACTGCATGTACTATATATATTTTATGTATAGTATATATACT GCATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	30	0.0333	686	c.505 others(705): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATGCAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATGCAGTATATATACTA TACATAAAATATATATAGTACATACTATACATAAAATATATATATAGTAT ATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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