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
CREB3L2_chr7_137869979_138007086	137946852	T T	TTATATAT others(417): Show TTATATATATAGTTATATATATATAGTTATATATATAGTTATGTATATAT AGTTATATATAGTTATATATATATAGTTATATATATAGTTATATATATAG TTATATATATAGTTATATATATATAGTTATATATATAGTTATATATATAT AGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATAGTTATATATATAGTTATATATAT ATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATATAT ATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTATAT ATATATAGTTATATATATAGTTATATATATATAGTTATATATATAGTTAT ATATATATAGTTATATATATAGTTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0102 a0001c0004t0003g0102	1	288	0.0035	424	c.103 others(443): Show c.103-18487_103-18486insTAACTATATATATAACTATATATATA TAACTATATATATAACTATATATATATAACTATATATATAACTATATATA TATAACTATATATATAACTATATATATATAACTATATATATAACTATATA TATATAACTATATATATAACTATATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATAACTATATATATAACTATA TATATATAACTATATATATAACTATATATATATAACTATATATATAACTA TATATATATAACTATATATATAACTATATATATATAACTATATATATAAC TATATATATAACTATATATATAACTATATATATATAACTATATATAACTA TATATACATAACTATATATATAACTATATATATATAACTATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CRLF2_chrX_1185490_1217649	1198279	G G	GGAAGGCA others(417): Show GGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGACACCCTCCCTC CCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGGAC ACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTAG AAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCC TCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCGAAGGCAGG ACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCT AGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAAGGCAGGACACCCTC CCTCCCACCTCCCAGGAAGGCAGGACACCCTCCCTCCCACCTCCCAGGAA GGCAGGACACCCTCCCTCCCACCTC	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	167	0.0060	424	c.646 others(439): Show c.646+282_646+283insGAGGTGGGAGGGAGGGTGTCCTGCCTTCCT GGGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGG TGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGGTG GGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGC CTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAG GGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCTGCCTTCTAGG TGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGGAGGGTGTCCT GCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTCCTGGGAGGTGGGAGGG AGGGTGTCCTGCCTTCGAGGTGGGAGGGAGGGTGTCCTGCCTTC	CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	5/7			chrX	TogoVar
DAZAP1_chr19_1402586_1440684	1420023	A A	AGTCACGG others(417): Show AGTCACGGTGGCGAGCACTCACCCCACGCGCACACTCATGAAACCATCCT GAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCAC CCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAAC CACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGA AACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCA TGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACAC TCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCA CACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGC GCACACTCATGAAACCACCCCGAAC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0056 a0001c0001t0026g0056	1	374	0.0027	424	c.304 others(441): Show c.304-1118_304-1117insTGGCGAGCACTCACCCCACGCGCACACT CATGAAACCATCCTGAACGTCACGGCGGCGAGCACTCACCCCACGCGCAC ACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCG CACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCAC GCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGG	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420072	C C	TGAACGTC others(417): Show TGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCA CCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCC ACGCGCACACTCATGAAACCACCCC	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18984.hp2 NA18949.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0026 a0001c0001t0013 a0001c0001t0026	a0001c0001t0013g0108 a0001c0001t0026g0046 a0001c0001t0013g0108 a0001c0001t0026g0046	2	374	0.0054	424	c.304 others(441): Show c.304-1077_304-1076insTGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGC GAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGC GGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCAC GGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGT CACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11			chr19	TogoVar
DAZAP1_chr19_1402586_1440684	1420122	T T	TCCTGAAC others(417): Show TCCTGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAA CCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTCATG AAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACACTC ATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGCACA CTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACGCGC ACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCCACG CGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCACCCC ACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCAC CCCACGCGCACACTCATGAAACCAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0130 a0001c0003t0014g0130	1	374	0.0027	424	c.304 others(441): Show c.304-1024_304-1023insTGAACGTCACGGCGGCGAGCACTCACCC CACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCACTCA CCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAGCAC TCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGCGAG CACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGCGGC GAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCACGGC GGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGTCAC GGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCCCGAACGT CACGGCGGCGAGCACTCACCCCACGCGCACACTCATGAAACCACCC	DAZAP1	ENSG00000071626.17	transcript	ENST00000233078.9	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(417): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	367	0.0027	424	c.-42 others(435): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIDO1_chr20_62872743_62931505	62875266	C C	CCACCCCC others(417): Show CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCACCCCC ACCCGCACCGGCACCCCCACCCTCACCCTCACCCCCACCCCCACCCCCAC CCCACCCCCACCCCCACCCTCACCCCCACCCCCACCCCACCCCCACCCCC ACCCTCACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCGGCAC CCCCACCCGCACCGGCACCCCCACCCCCACCCCCACCCCCACCCGCACCC CCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCC ACCCCCACCCCCACCCCCACCCCCACCCCCACCCGCACCCCCACCCCCAC CCGCACCCCCACCCCCACCCGCACCCCCACCCCCACCCCCACCCCCACCC GCACCCCCACCCCCACCCCCACCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0006 a0004c0004t0001g0006	1	320	0.0031	424	c.39 others(435): Show c.3966_*3967insCGGGTGGGGGTGGGGGTGGGGGTGCGGGTGGGGG TGGGGGTGGGGGTGGGGGTGCGGGTGGGGGTGGGGGTGCGGGTGGGGGTG GGGGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGG GGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGCGGG TGGGGGTGGGGGTGGGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCCGGTG CGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGG GGTGGGGTGGGGGTGGGGGTGAGGGTGGGGGTGGGGGTGGGGTGGGGGTG GGGGTGGGGGTGAGGGTGAGGGTGGGGGTGCCGGTGCGGGTGGGGGTGCC GGTGCGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTG	DIDO1	ENSG00000101191.17	transcript	ENST00000395343.6	protein_coding		2476		chr20	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGGAGAGG others(417): Show GGGAGAGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGGGAGGAGGAGAG GGACGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCG GGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGGGCGGGG GGCGGGAGGGGGGGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGG AGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGG GGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGG GGCGGAGAGGGGCGGGGCGGGGCGGGGCGGGGCGGGGAGGGGCAGACGGG GAGGGGGAGGGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGG GCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0008 a0001c0021t0008	a0001c0021t0008g0074 a0001c0021t0008g0074	1	88	0.0114	424	c.158 others(441): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCCTCCCCCTCCCC GTCTGCCCCTCCCCGCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCCCG CCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCT CTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCG CCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCCCCCCCTCCCGCCCCC CGCCCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGC CCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGTCCCTC TCCTCCTCCCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	608577	C C	CCCCCACA others(417): Show CCCCCACACACACACACACCCCCCCCCACACACACACACCCCCCCCACAC ACACGCCCCCCCACACACACACATGCCCCCCCCACACACACACATCCCCC CCCCACACACACACATCCCCCCCCACACACACACATCCCCCCCCACACAC ACACATCCCCCCCCACACACACACATCCCCCCCCACACACACACATCCCC CCCACACACACACATCCCCCCCCACACACACACATCCCCCCCACACACAC ACATCCCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCC ACACACACATCCCCCCCCACACACACACATCCCCCCCACACACACACATC CCCCCCACACACACACATCCCCCCCACACACACACATCCCCCCCACACAC ACACATCCCCCCCACACACACACAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0008 a0001c0021t0008	a0001c0021t0008g0074 a0001c0021t0008g0074	1	88	0.0114	424	c.85+ others(441): Show c.85+80916_85+80917insATGTGTGTGTGTGGGGGGGATGTGTGTG TGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGAT GTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGGG GGGGGATGTGTGTGTGTGGGGGGGATGTGTGTGTGTGGGGGGGATGTGTG TGTGTGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGG GATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTG TGTGGGGGGGGATGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGGGGGGG GGATGTGTGTGTGTGGGGGGGGCATGTGTGTGTGTGGGGGGGCGTGTGTG TGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP1_chr18_3491032_4460307	3741358	A A	ATCACCAT others(417): Show ATCACCATCACCACCACCACCACCATCACCTCACCACCACCACCACCATC ACCACCACCATCACCACCATCACCTCACCACCACCACCACCATCACCTCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCATCACCACC ACCACCATCACCATCACCACCACCATCACCACCACCACCACATCACCATC ACCATCACCACCACCATCACCACCACATCACCACCACCACCACCACCACC ACCAAATCACCACCACCACCACCACATCACCATCACCACCACCACCATCA CCATCACCACCACAATCACCACCACCACCACATCACCATCACCACCACCA CCACCACCACATCACATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0022 a0001c0002t0007g0022	1	80	0.0125	424	c.135 others(441): Show c.1350+976_1350+977insGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGTGATGTGGTGGTGGTGG TGGTGGTGATGGTGATGTGGTGGTGGTGGTGATTGTGGTGGTGATGGTGA TGGTGGTGGTGGTGATGGTGATGTGGTGGTGGTGGTGGTGATTTGGTGGT GGTGGTGGTGGTGGTGGTGATGTGGTGGTGATGGTGGTGGTGATGGTGAT GGTGATGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGT GGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGA GGTGATGGTGGTGGTGGTGGTGAGGTGATGGTGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGGTGAGGTGATGGTGGTGGTGGTGGTGATGGTGA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	6/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4087067	A A	ATATATAC others(417): Show ATATATACACATATGTATATACACACATATATACACATATGTATATACAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACACATATATACACATATGTATATACACACATATATACACATATGTATAT ACACACATATATACACATATGTATATACACACATATATACACATATGTAT ATACACATATATACACATATGTATATATACACATATATACACATATGTAT ATATACACATATATACATATATGTATATATACACATATATACATATATGT ATATATACACATATATACATATATG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0053 a0001c0001t0012g0053	1	80	0.0125	424	c.-15 others(445): Show c.-159+64112_-159+64113insCATATATGTATATATGTGTATATA TACATATATGTATATATGTGTATATATACATATATGTATATATGTGTATA TATACATATGTGTATATATGTGTATATATACATATGTGTATATATGTGTA TATACATATGTGTATATATGTGTGTATATACATATGTGTATATATGTGTG TATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATGTG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4087067	A A	ATATATAC others(417): Show ATATATACACATATGTATATACACACATATATACACATATGTATATACAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACATATATACACATATGTATATACACACATATATACACATATGTATATAC ACACATATATACACATATGTATATACACACATATATACACATATGTATAT ACACACATATATACACATATGTATATACACACATATATACACATATGTAT ATACACATATATACACATATGTATATATACACATATATACATATATGTAT ATATACACATATATACATATATGTATATATACACATATATACATATATGT ATATATACACATATATACATATATG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0069 a0001c0002t0034g0069	1	80	0.0125	424	c.-15 others(445): Show c.-159+64112_-159+64113insCATATATGTATATATGTGTATATA TACATATATGTATATATGTGTATATATACATATATGTATATATGTGTATA TATACATATATGTATATATGTGTATATATACATATGTGTATATATGTGTA TATACATATGTGTATATATGTGTGTATATACATATGTGTATATATGTGTG TATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATGTG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATATG TGTGTATATACATATGTGTATATATGTGTGTATATACATATGTGTATATA	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DPEP1_chr16_89608642_89643433	89619226	T T	TCCCCTCC others(417): Show TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	250	0.0040	424	c.-10 others(443): Show c.-107+5510_-107+5511insCTCCCTGCAGCCCCCTGCCCCCCCTG CTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619428	C C	CCCCCCCT others(417): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC CGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCT CCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCATG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0154 a0002c0002t0001g0154	1	250	0.0040	424	c.-10 others(443): Show c.-107+5714_-107+5715insCTGCTCCCCTCCCTGCAGCCCCCTGC CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89638669	A A	ACACACAC others(417): Show ACACACACACACACCCCACCCCTGCACACACACACACACACACCGCACCC CTGCACACACACACCGCACCCCTGCACACACACACACCCCATCCCTGCAC GCACACACCCCACCCCTGCACGCACACACCCCCCACCCCTGCACACACAC ACCCCACCCCTGCACACACACACATACCCCACCCCTGCACACTCACACAC ACCCCACCCCTGCACACACACACACCCCACCCCTGCACACACACACACAC ACACCGCACCCCTGCACACACACACACTGCACCCCTGCACACACACACAC CCCATCCCTGCACGCACACACCCCACCCCTGCACGCACACACCCCCCACC CCTGCACACACACACCCCACCCCTGCACACACACACATACCCCACCCCTG CACACACACACACACCCCACCCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	250	0.0040	424	c.44 others(433): Show c.447_*448insCACACACACACACCCCACCCCTGCACACACACACAC ACACACCGCACCCCTGCACACACACACCGCACCCCTGCACACACACACAC CCCATCCCTGCACGCACACACCCCACCCCTGCACGCACACACCCCCCACC CCTGCACACACACACCCCACCCCTGCACACACACACATACCCCACCCCTG CACACTCACACACACCCCACCCCTGCACACACACACACCCCACCCCTGCA CACACACACACACACACCGCACCCCTGCACACACACACACTGCACCCCTG CACACACACACACCCCATCCCTGCACGCACACACCCCACCCCTGCACGCA CACACCCCCCACCCCTGCACACACACACCCCACCCCTGCACACACACACA TACCCCACCCCTGCACACACACACACACCCCACCCCTG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		237		chr16	TogoVar
DPYSL2_chr8_26509031_26663175	26556354	A A	ATATATAT others(417): Show ATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATAGTATATA TATATAGTATATATATAGTATATATATATAGTATATATATATAGTATATA TATATAGTGTATATATATAGTATATATATAGTATATATATAGTATATATA GTATATATGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATAGTATATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATAGTATATATATATAGTATATATATAGTATATATATA GTATATATATATAGTATATATATAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0141 a0001c0001t0016g0141	1	316	0.0032	424	c.355 others(443): Show c.355-25607_355-25606insGTATATATATAGTATATATATAGTAT ATATATAGTATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGTA TATATATAGTATATATATATAGTATATATATAGTATATATATATAGTATA TATATATAGTATATATATATAGTGTATATATATAGTATATATATAGTATA TATATAGTATATATAGTATATATGTATATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTATATATATAGTATA TATATATAGTATATATATAGTATATATATAGTATATATATATAGTATATA TATAGTATATATATAGTATATATATATAGTATATATATAGTATATATA	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
DYSF_chr2_71448561_71691763	71618284	A A	AGGTGTGT others(417): Show AGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTG TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGGAGTAGAGGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0149 a0001c0004t0001g0149	1	192	0.0052	424	c.441 others(443): Show c.4410+4886_4410+4887insTGTGGTAGAGGTGTGTGTGTGTGTGG TAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTG GAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGT GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGT GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	40/54		INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71618284	A A	AGGTGTGT others(417): Show AGGTGTGTGTGTGTGTGGTAGAGGTGTGTGTGTGTGTGGTAGAGGTGGTG TATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTGGAGTGTGTGTG TGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG TGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGGTAG AGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGTGTGGTAGAGGT GTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGTGTGTGTGTGGT AGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGTGTGTGTGGGGT AGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGGTAGAGGTGGA GTGTGTGTGTGTGGAGTAGAGGTGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0075 a0001c0075	a0001c0075t0001 a0001c0075t0001	a0001c0075t0001g0094 a0001c0075t0001g0094	1	208	0.0048	424	c.446 others(443): Show c.4465-2251_4465-2250insTGTGGTAGAGGTGTGTGTGTGTGTGG TAGAGGTGGTGTATGTGTGTGGTAGAGGTAGGGTGTGTGTGGTAGAGGTG GAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTGGTAGAGGTGGT GTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTGTGGTAGAGGTGGTGT GTGTGTGGTAGAGGTGGTGTGTGTGTGGTAGAGGTGGGGGGTGTGTGTGT GTGGTAGAGGTGTGTGTGTGGTAGAGGTGATGTGTGTGTTTGGTAGAGGT GTGTGTGTGGTAGAGGTGGGGTGTGTGTGTGTGGTAGAGGTGGAGTGTGT GTGTGTGGGGTAGAGTTGTGTGTGTGTGGTAGAGGTGGTGTGTGTGTGTG GTAGAGGTGGAGTGTGTGTGTGTGGAGTAGAGGTGTGGTGTGTGTGTG	DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	40/55		INFO_REALIGN_3_PRIME	chr2	TogoVar
EEF1A2_chr20_63483014_63504083	63492196	G G	GGATGGAT others(417): Show GGATGGATGGATGGGGAAATGGATGGATGGAAGGATGGATGGATAGGGAG GTGGGTGGATGGATGGATGGATGGATGTACAGAAGGATGGATGGGTGGGG AGGTGGGTGAGTGGATGAATGGATGGATGGATAGATAGAAGGATGGATGG GTGGGACAATAGATGGATGGATAGAGAGAAGGATGGATGGGTGGGGAGAT GGATGGATGGATGGATGGATGGATGGATAGAGAGAAGGATGGATGGTTGA GACAATGGATGGATGGATGGATGGAGAGATGGATGGATGGATGGATGGAC AGAAGGATGGATGGGTGGGGAGGTGGATGGATGGATTGAAGGATGGATGG GTGGGGACATGGATGGATGGATGGATGGATGGATGGATGGACAGAAGGAT GTATGGGTGGGGAGGTGGGTGGATA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02109.hp2 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0161 a0001c0002t0001g0168 a0001c0002t0001g0161 a0001c0002t0001g0168	2	374	0.0054	424	c.772 others(439): Show c.772+940_772+941insTATCCACCCACCTCCCCACCCATACATCCT TCTGTCCATCCATCCATCCATCCATCCATCCATCCATGTCCCCACCCATC CATCCTTCAATCCATCCATCCACCTCCCCACCCATCCATCCTTCTGTCCA TCCATCCATCCATCCATCTCTCCATCCATCCATCCATCCATTGTCTCAAC CATCCATCCTTCTCTCTATCCATCCATCCATCCATCCATCCATCCATCTC CCCACCCATCCATCCTTCTCTCTATCCATCCATCTATTGTCCCACCCATC CATCCTTCTATCTATCCATCCATCCATTCATCCACTCACCCACCTCCCCA CCCATCCATCCTTCTGTACATCCATCCATCCATCCATCCACCCACCTCCC TATCCATCCATCCTTCCATCCATCCATTTCCCCATCCATCCATC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(417): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCACCACCATCCTCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACC ACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCC ACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACCA CCACCATCACCACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03098.hp2 HG02970.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0092 a0001c0002t0005g0093 a0001c0002t0001g0092 a0001c0002t0005g0093	2	250	0.0080	424	c.259 others(443): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GAGGATGGTGGTGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGAG others(417): Show GGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGG GGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGA AGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGA AAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAG GGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGG ACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACA GGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGG TTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCC CAGGGAGCAAGGGGTGGGGTTTGCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	412	0.0024	424	c.120 others(441): Show c.1209-436_1209-435insGGCAAACCCCACCCCTTGCTCCCTGGGA CCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCC TGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGT CCCTTTCTTCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCC TTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTT TCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCT CCCCCGGCAAACCCCACCCCTTGCTCCCAGGAACCCTGTCCCTTTCTTCC CCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTGTCCCTTTCTCCCCCG GCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ESYT2_chr7_158725997_158834509	158729237	G G	GGGGGGGA others(417): Show GGGGGGGAGGAGCAAATGTGGAGGTGCTGGGGGGAGAAGCAAGCGTGGAG GTGGGGGGAGGAGCAAATGTGGAGGTGAGGGGAGGAGCAAATGTGGAGGT GCTGGGGGGAGGAGCAAGCGTGGAGGTGGGGGGAGGAGCAAATGTGGAGG TGCTGGGGGGAGGAGCAGGTGTGGAGATAGTGGGGGAAGAGCAAGCGTGG AGGTGTTGGGAGAAGCAAGTGTGGATGTGCAAGCGTGGAGGTGGGGGGCT TGGCGCAAGCGTGGAGGTGCTGGGGGGAGGAGCAAGGTGGAGGTTGGGAC TGGAGCAAATGTGGAGGTGCTGGGGGGAGGAGCAAGCATGGAGGTGGGGA GGTTGGAGCAAGTGTGGAGGTGGGGGGATTGGAGCAAATGTGGATGTGCT GCGGGGGAAGAGCAAGCGTGGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0198 a0002c0004t0003g0198	1	370	0.0027	424	c.49 others(435): Show c.4969_*4970insACCTCCACGCTTGCTCTTCCCCCGCAGCACATCC ACATTTGCTCCAATCCCCCCACCTCCACACTTGCTCCAACCTCCCCACCT CCATGCTTGCTCCTCCCCCCAGCACCTCCACATTTGCTCCAGTCCCAACC TCCACCTTGCTCCTCCCCCCAGCACCTCCACGCTTGCGCCAAGCCCCCCA CCTCCACGCTTGCACATCCACACTTGCTTCTCCCAACACCTCCACGCTTG CTCTTCCCCCACTATCTCCACACCTGCTCCTCCCCCCAGCACCTCCACAT TTGCTCCTCCCCCCACCTCCACGCTTGCTCCTCCCCCCAGCACCTCCACA TTTGCTCCTCCCCTCACCTCCACATTTGCTCCTCCCCCCACCTCCACGCT TGCTTCTCCCCCCAGCACCTCCACATTTGCTCCTCCCCCC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1759		chr7	TogoVar
EXD3_chr9_137301896_137428162	137355604	A A	AAAGGAGG others(417): Show AAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAAGGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAG AAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGA AGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA TGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGAAAGGGAGGAAGGAGGA TGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0017 a0017	a0017c0018 a0017c0018	a0017c0018t0001 a0017c0018t0001	a0017c0018t0001g0022 a0017c0018t0001g0022	1	82	0.0122	424	c.757 others(439): Show c.757+663_757+664insCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTC CTTCCTCCCTTTCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTC CTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM107B_chr10_14513557_14779897	14568337	G G	GGGAGGAG others(417): Show GGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGCAGA TACTAGAGGAGGAGGCTGGCTGATCCCAGGGTTAGACCAGGAGGTGAAGA TACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGGTGA AGATACTGGAGGAGGAGGCTGGCTGATGATCCCAGGGTTAGACCAGGAGG TGAAGATACTCAGGTAAGAGGAGGCTGGCTGATGATCTCAGGGTTAGACC AGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTGGGTTAG ACCAGGAGGTGAAGATACTTGGGTAGGAGGAGGGCGGCTGATCTCTGGGT TAGACCAGGAGGTGAAGATACTCGGGTAGGAGGAGGGTGGCTGATCTCTG GGTTAGACCAGGAGGTGAAGATACT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02572.hp1 others(1): Show HG02145.hp2 HG02257.hp2 HG02572.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0076 others(1): Show a0001c0001t0002g0046 a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0002g0096	4	272	0.0147	424	c.470 others(443): Show c.470-37823_470-37822insAGTATCTTCACCTCCTGGTCTAACCC AGAGATCAGCCACCCTCCTCCTACCCGAGTATCTTCACCTCCTGGTCTAA CCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTGGTC TAACCCAGAGATCAGCCGCCCTCCTCCTACCCAAGTATCTTCACCTCCTG GTCTAACCCTGAGATCATCAGCCAGCCTCCTCTTACCTGAGTATCTTCAC CTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTATCTT CACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCCAGTAT CTTCACCTCCTGGTCTAACCCTGGGATCAGCCAGCCTCCTCCTCTAGTAT CTGCACCTCCTGGTCTAACCCTGGGATCATCAGCCAGCCTCCTCCTCC	FAM107B	ENSG00000065809.14	transcript	ENST00000181796.7	protein_coding	2/4			chr10	TogoVar
FAM53A_chr4_1634887_1689313	1671129	C C	CCACAGCC others(417): Show CCACAGCCCGGACTCACCTCTGTCCCACCGTCAGAGCCCCCAGCTCACAG CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACAGCCACGGCCCAGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0105 a0002c0003t0009g0105	1	350	0.0029	424	c.-16 others(443): Show c.-164-2225_-164-2224insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCTGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGC TGTGAGCTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FAM53A_chr4_1634887_1689313	1671447	C C	CCACAGCC others(417): Show CCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTCAGAGCCACCAGC TCACAGCCACGGCCCGGACTCACCTCTGTCCCACCGTCAGAGCCCCCAGC TCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCATCAGAGCC ACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCCCCAGCTCACAGCCACGGCCCGGACTCACCTCTGTCCCAGCGTC AGAGCCACCAGCTCACAGCCACAGCCACGGCCCGGACTCACCTCTGTCCC AGCGTCAGAGCCACCAGCTCACAGCCACAGCCACAGCCCGGACTCACCTC TGTCCCAGCGTCAGAGCCACCAGCT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0076 a0001c0001t0007g0076	1	350	0.0029	424	c.-16 others(443): Show c.-164-2543_-164-2542insAGCTGGTGGCTCTGACGCTGGGACAG AGGTGAGTCCGGGCTGTGGCTGTGGCTGTGAGCTGGTGGCTCTGACGCTG GGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGGGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAGCTGGTGGCTCTG ACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAGCTGGTG GCTCTGATGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGGCTGTGAG CTGGGGGCTCTGACGGTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTGAG CTGGTGGCTCTGACGCTGGGACAGAGGTGAGTCCGGGCCGTGGCTGTG	FAM53A	ENSG00000174137.14	transcript	ENST00000308132.11	protein_coding	1/4			chr4	TogoVar
FBN2_chr5_128252909_128543245	128540067	C C	CATATATC others(417): Show CATATATCATATATATCATATATATCATATATCATATATATCATATATCA TATATATTATATATCATATATATCATATATATCATATATCATATATCATA TATATCATATATATTATATATCATATATCATATATCATATATATCATATA TATCATATATCATATATCATATATATCATATATATCATATATCATATATC ATATATATCATATATCATATATATCATATATCATATATATCATATATCAT ATATATCATATATCATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCATAT ATATCATATATCATATATATCATATATATCATATATCATATATATCAATC ATATATATTATATATCATATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0045 a0016c0045	a0016c0045t0010 a0016c0045t0010	a0016c0045t0010g0027 a0016c0045t0010g0027	1	236	0.0042	424	c.-24 others(435): Show c.-2465_-2464insATGATATATGATATATAATATATATGATTGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATATGATATATGATATATATGATAT ATATGATATATGATATATATGATATATGATATATGATATATATGATATAT GATATATATGATATATGATATATATGATATATGATATATATGATATATGA TATATGATATATATGATATATATGATATATGATATATGATATATATGATA TATATGATATATGATATATGATATATAATATATATGATATATATGATATA TGATATATGATATATATGATATATATGATATATAATATATATGATATATG ATATATATGATATATGATATATATGATATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1823		chr5	TogoVar
GAL3ST2_chr2_241771822_241809287	241806874	T T	TTCCCTCC others(417): Show TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGC CACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAGCCCAGAGACCTCCGCAGGCCACCTTCC CTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	314	0.0032	424	c.27 others(435): Show c.2708_*2709insTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCC ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCTTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCC CTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGAGACCTC CGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2588		chr2	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(417): Show TATACATATATATGTATATATATGTATGTATACATGTATACATACATATA AATATATGTATATATACATGTATACATACATATAAATATATGTATATATA CATGTATACATACATATAAATATATGTATGTATACATGTATACATACATA TAAATATATGTATGTATACATGTATACATACATATAAATATATGTATGTA TACATACGTATATATACATGTATAATACATATATATTTATATGTATATAT ACATACGTATATATACATGTATCATACATATAAATATATATTTATATGTA TGATACATGTATACATACGTATAAATATATATGTATGTATACATGTATCA TACATATAAATATATACATATAAATTTATATGTATATATACATGTATACA TACATATATATTTATGTATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02523.hp1 NA18942.hp1 others(6): Show HG00609.hp1 HG02523.hp1 NA18942.hp1 NA18985.hp1 NA18991.hp1 NA19056.hp1 NA19057.hp1 NA19077.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0250 a0001c0001t0003g0251 others(6): Show a0001c0001t0003g0230 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0253 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0003g0260	9	348	0.0259	424	c.706 others(441): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATACATACATATAAATATATGTATATATACATGTATACATACA TATAAATATATGTATATATACATGTATACATACATATAAATATATGTATG TATACATGTATACATACATATAAATATATGTATGTATACATGTATACATA CATATAAATATATGTATGTATACATACGTATATATACATGTATAATACAT ATATATTTATATGTATATATACATACGTATATATACATGTATCATACATA TAAATATATATTTATATGTATGATACATGTATACATACGTATAAATATAT ATGTATGTATACATGTATCATACATATAAATATATACATATAAATTTATA TGTATATATACATGTATACATACATATATATTTATGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPALPP1_chr13_44984538_45035305	45019080	T T	TATACATA others(417): Show TATACATATATATGTATATATATGTATGTATACATGTATACATACATATA AATATATGTATATATACATGTATACATACATATAAATATATGTATGTATA CATGTATACATACATATAAATATATGTATGTATACATGTATACATACATA TAAATATATGTATGTATACATGTATACATACATATAAATATATGTATGTA TACATACGTATATATACATGTATAATACATATATATTTATATGTATATAT ACATACGTATATATACATGTATCATACATATAAATATATATTTATATGTA TGATACATGTATACATACGTATAAATATATATGTATGTATACATGTATCA TACATATAAATATATACATATAAATTTATATGTATATATACATGTATACA TACATATATATTTATGTATATATAC	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19065.hp1 HG00673.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0232 a0001c0001t0003g0252 a0001c0001t0003g0232 a0001c0001t0003g0252	2	348	0.0058	424	c.706 others(441): Show c.706-1249_706-1248insTACATATATATGTATATATATGTATGTA TACATGTATACATACATATAAATATATGTATATATACATGTATACATACA TATAAATATATGTATGTATACATGTATACATACATATAAATATATGTATG TATACATGTATACATACATATAAATATATGTATGTATACATGTATACATA CATATAAATATATGTATGTATACATACGTATATATACATGTATAATACAT ATATATTTATATGTATATATACATACGTATATATACATGTATCATACATA TAAATATATATTTATATGTATGATACATGTATACATACGTATAAATATAT ATGTATGTATACATGTATCATACATATAAATATATACATATAAATTTATA TGTATATATACATGTATACATACATATATATTTATGTATATATACA	GPALPP1	ENSG00000133114.18	transcript	ENST00000379151.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPR173_chrX_53043789_53085615	53074404	T T	TTATATTT others(417): Show TTATATTTATTTATAAATAAATATATATTAATATATATTTATATTTATTT ATTAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATAAATATATATTTATATTTATTTATAA ATAAATATATATAAATATATATAAATATATATAAATCTATATTTATAGTT ATTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATAT ATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAA ATAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAG ATTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTAT ATATAAATAACTATATAGATTTATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	208	0.0048	424	c.-97 others(441): Show c.-97-2112_-97-2111insTTATAAATAAATATATATTAATATATAT TTATATTTATTTATTAATAAATATATATAAATATATATAAATATATATTT ATATTTATTTATAAATAAATATATATAAATATATATAAATATATATTTAT ATTTATTTATAAATAAATATATATAAATATATATAAATATATATAAATCT ATATTTATAGTTATTTATATATAAATATATAAATCTATATATATAAATAT AGATTTATATATATTTATATATAAATAACTATAAATATAGATTTATATAT ATTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAA ATAACTATATAGATTTATATATATTTATATATAAATAACTATATAGATTT ATATATATTTATATATAAATAACTATATAGATTTATATATATTTAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GTPBP4_chr10_983434_1024932	1010881	T T	TCCCTCCA others(417): Show TCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACT CTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGAC TCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGG GCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCA CCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCC TGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGA GACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCC TGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGAT GCTGGGCCTCTTCATTCTCCTGCAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG03239.hp1 HG02300.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0049 a0001c0001t0001g0044 a0001c0001t0001g0049	2	370	0.0054	424	c.134 others(441): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCA TTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCA CCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCT CCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGT GGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010881	T T	TCCCTCCA others(417): Show TCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACT CTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGAC TCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGG GCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCA CCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCC TGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGA GACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCC TGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGAT GCTGGGCCTCTTCATTCTCCTGCAC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	370	0.0027	424	c.134 others(441): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCA TTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCA CCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCT CCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGT GGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
GTPBP4_chr10_983434_1024932	1010902	C C	CCCTACAC others(417): Show CCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTC TTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGCACCTCTTCC CTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATC CCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCT GGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTC TGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGG CCCCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCAC CTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCT GCACCCCTCCATCCTGACTCTGCCT	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	370	0.0027	424	c.134 others(441): Show c.1344+461_1344+462insCTGCCTCCTGCACCTCTTCCCTGTCCCG ACACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATC CTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGA TGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCT ACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCCCTTCA TTCTCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCA CCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCT CCATCCTGACTCTGCCTCCTACACCACCTTCCCCACCCCGAGACTCTGGT GGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
HBQ1_chr16_175459_186179	186170	G G	GGAGGAAC others(417): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	424	c.50 others(435): Show c.5062_*5063insGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGAC ACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4992		chr16	TogoVar
HCN2_chr19_584881_622159	602360	T T	TCTCTCCT others(417): Show TCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCC CCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGC GTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCC TCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCG TGGACGCCCCACTCCCTCCTCTCTC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	408	0.0025	424	c.633 others(441): Show c.633-1181_633-1180insTCCTCCTGCGTGGACGCCCCACTTCCTC CTCTCCTGCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGC CCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTTCCTCCTCTCT CCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCC CCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTTCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTT CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCC CTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTC	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
IFNAR1_chr21_33319970_33364864	33323368	G G	GAATATAT others(417): Show GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATATATGG AATATATATATGGAATATATATATATGGAATATATATATGGAATATATAT ATATATGGAATATATATATGGAATATATATATATGGAATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATGGAATATATATATGGAATATATATATATGGTATATATGGAATATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATAGAGATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	323	0.0031	424	c.-16 others(435): Show c.-1688_-1687insAATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATGG AATATATATATATGGAATATATATATGGAATATATATATATGGAATATAT ATATGGAATATATATATATATGGAATATATATATGGAATATATATATATG GAATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATATGGAATATATATATATGGTA TATATGGAATATATATATATGGAATATATATATGGAATATATATATGGAA TATATATATGGAATATATATATGGAATATATATATGGAATATATATATGG AATATATATATGGAATATATATATGGAATATAGAGATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1601		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173137	C C	CCCCTCCC others(417): Show CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCT CCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCC CCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCCCTCCC CCTCCCCTCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCCTCCCCCCT CTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCC CCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCT CCTCCTTCCCCCTGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0006 a0002c0016t0006	a0002c0016t0006g0099 a0002c0016t0006g0099	1	158	0.0063	424	c.11 others(445): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCC TCTCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCC CTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCTC TCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCC ATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCC CCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCC TTCCCTCTCTCTCTCTCCTCCTCCTTCCCCCTGTCTCTCTCTCTCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(417): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATAAATATATAA ATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGAT TTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATT TATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATA TAATATATAAAATATATAAATCATATAAAATTTATATTTATGTATAAATA TAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGT TATATATTATATATTATTATATTATATATATTATAATATGTATTATATTA TATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	389	0.0026	424	c.-51 others(435): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATAAATATATAAATAAATATATAAATATATAAATATAAATATATATT TATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTATA TTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATAT TTTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTTAT ATTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTATGTTATATATTATATATTATTATATTATATATATTATA ATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(417): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAA TATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATA TAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGT TATATATTATATATTATTATATTATATATATTATAATATGTATTATATTA TATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00609.hp2 others(54): Show HG00423.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp1 HG01070.hp1 HG01074.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02165.hp2 HG02486.hp2 HG02683.hp2 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp2 NA18971.hp2 NA18984.hp2 NA18993.hp2 NA19003.hp2 NA19005.hp1 NA19012.hp2 NA19056.hp2 NA19068.hp1 NA19082.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0003 a0003c0006 others(1): Show a0001c0001 a0001c0003 a0003c0006 a0011c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0027 a0001c0001t0029 a0001c0001t0041 a0001c0001t0045 a0001c0001t0051 a0001c0001t0074 a0001c0003t0001 a0003c0006t0001 a0011c0013t0001	a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0130 others(51): Show a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0211 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0269 a0001c0001t0001g0349 a0001c0001t0001g0355 a0001c0001t0003g0068 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0348 a0001c0001t0004g0143 a0001c0001t0005g0194 a0001c0001t0005g0276 a0001c0001t0005g0277 a0001c0001t0007g0176 a0001c0001t0007g0186 a0001c0001t0007g0189 a0001c0001t0007g0270 a0001c0001t0007g0271 a0001c0001t0007g0272 a0001c0001t0007g0273 a0001c0001t0008g0145 a0001c0001t0016g0152 a0001c0001t0016g0179 a0001c0001t0016g0328 a0001c0001t0020g0009 a0001c0001t0027g0069 a0001c0001t0027g0070 a0001c0001t0029g0329 a0001c0001t0041g0330 a0001c0001t0045g0289 a0001c0001t0051g0175 a0001c0001t0074g0192 a0001c0003t0001g0188 a0003c0006t0001g0135 a0011c0013t0001g0191	57	389	0.1465	424	c.-51 others(435): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATAT ATTTTATACATAAAATATATATAAAATATATAAATCATATAAAATTTATA TTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTATGTTATATATTATATATTATTATATTATATATATTATA ATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TGTAAATA others(417): Show TGTAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATACAAATATAT AAATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAG ATTTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATA TTTATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAA TATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAATA TAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTATGT TATATATTATATATTATTATATTATATATATTATAATATGTATTATATTA TATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	389	0.0026	424	c.-51 others(435): Show c.-5160_-5159insGTAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATACAAATATATAAATAAATATATAAATATATAAATATAAATATATA TTTATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTA TATTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATAT ATTTTATACATAAAATATATATAAAATATATAAATCATATAAAATTTATA TTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATAT TATATATTATTATGTTATATATTATATATTATTATATTATATATATTATA ATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(417): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATGA ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATGAATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0255 a0001c0002t0001g0255	1	322	0.0031	424	c.283 others(443): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATTCATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATATATT CATATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(417): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTACAC ATATATATTCATATATATGTGTACACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02273.hp1 HG02056.hp2 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0246 a0001c0001t0001g0122 a0001c0001t0001g0246	2	322	0.0062	424	c.283 others(443): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTGTACACATATATATGAATATATATG TGTACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATATATG AATATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(417): Show ATATATGTGTACACATATATATTCATATATATGTGTACACATATATATTC ATATATATGTGTACACATATATATTCATATATATGTGTACACATATATAT TCATATATATGTGTACACATATATATTCATATATATGTGTACACATATAT ATTCATATATATGTGTACACATATATATTCATATATATGTGTACACATAT ATATTCATATATATGTGTACACATATATATTCATATATATGTGTACACAT ATATATTCATATATATGTGTACACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18982.hp2 HG03669.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0273 a0001c0001t0001g0248 a0001c0001t0001g0273	2	322	0.0062	424	c.283 others(443): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTGTACACATATATATGAATATATA TGTGTACACATATATATGAATATATATGTGTACACATATATATGAATATA TATGTGTACACATATATATGAATATATATGTGTACACATATATATGAATA TATATGTGTACACATATATATGAATATATATGTGTACACATATATATGAA TATATATGTGTACACATATATATGAATATATATGTGTACACATATATATG AATATATATGTGTACACATATATATGAATATATATGTGTACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KCNK9_chr8_139612121_139708123	139687464	A A	ATATATGT others(417): Show ATATATGTGTATACATATATATTCATATATATGTGTATACATATATATTC ATATATATGTGTATACATATATATTCATATATATGTGTATACATATATAT TCATATATATGTGTATACATATATATTCATATATATGTGTATACATATAT ATTCATATATATGTGTATACATATATATTCATATATATGTGTATACATAT ATATTCATATATATGTGTATACATATATATTCATATATATGTGTATACAT ATATATTCATATATATGTGTATACATATATATTCATATATATGTGTATAC ATATATATTCATATATATGTGTATACATATATATTCATATATATGTGTAT ACATATATATTCATATATATGTGTATACATATATATTCATATATATGTGT ATACATATATATTCATATATATGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03516.hp2 HG02109.hp1 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0012 a0001c0002t0001g0013	2	322	0.0062	424	c.283 others(443): Show c.283+15245_283+15246insCACATATATATGAATATATATGTATA CACATATATATGAATATATATGTATACACATATATATGAATATATATGTA TACACATATATATGAATATATATGTATACACATATATATGAATATATATG TATACACATATATATGAATATATATGTATACACATATATATGAATATATA TGTATACACATATATATGAATATATATGTATACACATATATATGAATATA TATGTATACACATATATATGAATATATATGTATACACATATATATGAATA TATATGTATACACATATATATGAATATATATGTATACACATATATATGAA TATATATGTATACACATATATATGAATATATATGTATACACATATATATG AATATATATGTATACACATATATATGAATATATATGTATACACATATA	KCNK9	ENSG00000169427.8	transcript	ENST00000520439.3	protein_coding	1/1			chr8	TogoVar
KIF3B_chr20_32272651_32340011	32322993	C C	CATATTTA others(417): Show CATATTTATACATATTTATATATACATATTTATATACATTTATATACATA TTTATATATACATTTATATATACATTTATATATACATATTTATATATATT TATATATATTTATAGATATATATTTATAGATATATATTTATATATATTTA TTTATATTTATATATATATTTATATATATTTATTTATATTTATATTTATA TTTATATTTATATATATTTATATATATTTATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TTTATATATTTATATATATTTATATTTCTATTTATTTATATATATTTATA TTTATTTATATTTATATATTAATAT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02572.hp1 HG02622.hp1 others(1): Show HG01167.hp2 HG02572.hp1 HG02622.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0024 a0001c0001t0021 a0001c0001t0024	a0001c0001t0021g0010 a0001c0001t0021g0012 a0001c0001t0024g0011 others(1): Show a0001c0001t0021g0010 a0001c0001t0021g0012 a0001c0001t0024g0011 a0001c0001t0024g0013	4	242	0.0165	424	c.174 others(443): Show c.1749-3774_1749-3773insTTATACATATTTATATATACATATTT ATATACATTTATATACATATTTATATATACATTTATATATACATTTATAT ATACATATTTATATATATTTATATATATTTATAGATATATATTTATAGAT ATATATTTATATATATTTATTTATATTTATATATATATTTATATATATTT ATTTATATTTATATTTATATTTATATTTATATATATTTATATATATTTAT ATATTTATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATTTATATATTTATATATATTTATATTTCTAT TTATTTATATATATTTATATTTATTTATATTTATATATTAATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAIR1_chr19_54346384_54369931	54349509	G G	GGGAGGAC others(417): Show GGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAG GGTGAATGGATGGAGGACGCAGATCCTGAGGGTGGATGGATGGAGGGAGG ATGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGA TGGAGGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGACAGAGATCC TGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGG ACGCAGATCCTGAGGGTGAATGGATGGAGGACACAGATCCTGAGGGTGAA TGGATGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGACGCAGATCC TGAGGGTGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGG ACACAGATCCTGAGGATGGATGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00408.hp1 others(116): Show HG00099.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18947.hp2 NA18953.hp2 NA18957.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18994.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19002.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp2 NA19074.hp2 NA19078.hp1 NA19088.hp2 NA19091.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0006 others(6): Show a0001 a0002 a0006 a0008 a0009 a0012 a0015 a0017 a0018	a0001c0001 a0001c0003 a0002c0002 others(8): Show a0001c0001 a0001c0003 a0002c0002 a0002c0012 a0006c0010 a0008c0013 a0009c0014 a0012c0019 a0015c0020 a0017c0021 a0018c0018	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(15): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0032 a0001c0001t0038 a0001c0001t0047 a0001c0001t0066 a0001c0003t0025 a0002c0002t0017 a0002c0002t0044 a0002c0012t0002 a0006c0010t0002 a0008c0013t0052 a0009c0014t0002 a0012c0019t0011 a0015c0020t0054 a0017c0021t0011 a0018c0018t0002	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 others(43): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0043 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0095 a0001c0001t0002g0100 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0157 a0001c0001t0002g0159 a0001c0001t0002g0162 a0001c0001t0002g0186 a0001c0001t0002g0196 a0001c0001t0003g0004 a0001c0001t0011g0086 a0001c0001t0011g0097 a0001c0001t0011g0156 a0001c0001t0032g0068 a0001c0001t0038g0155 a0001c0001t0047g0094 a0001c0001t0066g0137 a0001c0003t0025g0115 a0001c0003t0025g0173 a0002c0002t0017g0053 a0002c0002t0017g0175 a0002c0002t0044g0106 a0002c0012t0002g0167 a0006c0010t0002g0067 a0006c0010t0002g0202 a0008c0013t0052g0084 a0009c0014t0002g0033 a0012c0019t0011g0093 a0015c0020t0054g0073 a0017c0021t0011g0096 a0018c0018t0002g0088	119	462	0.2576	424	c.57 others(435): Show c.5758_*5759insATCCATCCATCCTCAGGATCTGTGTCCTCCCTCC ATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCACCCTCAGGATCTGCG TCCTCCATCCATCCACCCTCAGGATCTGTGTCCTCCATCCATTCACCCTC AGGATCTGTGTCCTCCATCCATTCACCCTCAGGATCTGCGTCCTCCCTCC ATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATCCTCAGGATCTCTG TCCTCCATCCATCCACCCTCAGGATCTGTGTCCTCCCTCCATCCATCCTC AGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCATCCTCCCTCC ATCCATCCACCCTCAGGATCTGCGTCCTCCATCCATTCACCCTCAGGATC TGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1874		chr19	TogoVar
LAIR1_chr19_54346384_54369931	54349509	G G	GGGAGGAC others(417): Show GGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAG GGTGAATGGATGGAGGACGCAGATCCTGAGGGTGGATGGATGGAGGGAGG ATGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGA TGGAGGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGACAGAGATCT TGAGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGG ACGCAGATCCTGAGGGTGAATGGATGGAGGACACAGATCCTGAGGGTGAA TGGATGGAGGACACAGATCCTGAGGGTGGATGGATGGAGGACGCAGATCC TGAGGGTGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGG ACACAGATCCTGAGGATGGATGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02135.hp1 NA18941.hp1 HG02015.hp1 HG02135.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0062 a0001c0001t0002 a0001c0001t0062	a0001c0001t0002g0001 a0001c0001t0062g0189 a0001c0001t0002g0001 a0001c0001t0062g0189	3	462	0.0065	424	c.57 others(435): Show c.5758_*5759insATCCATCCATCCTCAGGATCTGTGTCCTCCCTCC ATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCACCCTCAGGATCTGCG TCCTCCATCCATCCACCCTCAGGATCTGTGTCCTCCATCCATTCACCCTC AGGATCTGTGTCCTCCATCCATTCACCCTCAGGATCTGCGTCCTCCCTCC ATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATCCTCAAGATCTCTG TCCTCCATCCATCCACCCTCAGGATCTGTGTCCTCCCTCCATCCATCCTC AGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGCATCCTCCCTCC ATCCATCCACCCTCAGGATCTGCGTCCTCCATCCATTCACCCTCAGGATC TGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1874		chr19	TogoVar
LARS1_chr5_146108034_146187650	146174525	T T	TATATATC others(417): Show TATATATCCATATATATATATCCATATATATATCCATATATATATCCATA TATATATATCCATATATATATCCATATATATATATCCATATATATATCCA TATATATATATCCATATATATGGATATATATATATCCATATATATCTATC CATATATATATCCATATATATCTATCCATATATATATCCATATATCTATC CATATATATATCCATATATATATATCCATATATATATATATCCATATATA TATCCATATATATATATCCATATATATATATATCCATATATATATATATC CATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0214 a0002c0002t0002g0214	1	284	0.0035	424	c.126 others(441): Show c.126-1752_126-1751insGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATGGATATAT ATATGGATATATATATATATGGATATATATATATGGATATATATATGGAT AGATATATGGATATATATATGGATAGATATATATGGATATATATATGGAT AGATATATATGGATATATATATATCCATATATATGGATATATATATATGG ATATATATATGGATATATATATATGGATATATATATGGATATATATATAT GGATATATATATGGATATATATATGGATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHPP_chr10_124456823_124619141	124610410	C C	CGGGTGAG others(417): Show CGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGGTGAGGG TGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTG AGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGT GCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGGGTGA GGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTG CTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAG GGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGC TGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGCGAGG GTGAGGGTGTTGACGGAGCGGGTGA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0173 a0001c0001t0004g0173	1	260	0.0039	424	c.717 others(441): Show c.717-2837_717-2836insCTGGTGGAGCGGGTGAGGGTGCGGGGTG AGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCG GGTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGA GGGTGCTGGTGGAGCGGGTGAGGGTGAGGGTGAGGGTGCTGGTGGAGCGG GTGAGGGTGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAG GGTGCTGGTGGAGCGGGTGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGG TGAGGGAGCGGGTGAGGGTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGG GTGCTGGTGGAGCGGGTGAGGGTGCGGGTGAGGGTGCTGATGGAGCGGGC GAGGGTGAGGGTGTTGACGGAGCGGGTGAGGGTGAGGGTGAGGGTG	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar

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