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
BRSK2_chr11_1384934_1467689	1435305	C C	CCGGTGGG others(631): Show CCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCG GAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGTC GGTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGA GGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCG GCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGG GGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGT GTCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGA GGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	356	0.0028	638	c.92- others(651): Show c.92-446_92-445insCCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCG GTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAG GGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGG CGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGG GGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTG CCGGTGGGGGTCTCGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAG GAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCT CGGCGGAGGAGGGGTGTCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGT GGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGG GTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCG GAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGG TCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGAGGGGTGCC GGTGGGGGTCTCGGCGGAGGAGGGGTGCCGGTGGGGGTCTCGGCGGAGGA GGGGTG	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CDH4_chr20_61247261_61945617	61331684	G G	GGCCACCT others(631): Show GGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGCCACCTGCCCCAGACCC ACCTCCTGACCAAGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACC TGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCT GCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCA GGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGG CCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCAC CTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTG CCCCAGGCCCACCTCCTGCCCCGGCCACCTGACCCAGGCCCACCTCCTGC CCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGG TCTACCTCCTGCCCTGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCC AACTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCT CCTGCCCCGGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTC CCAGGCCCACCTCCTGCCCCAGACCCACCTCCCGCCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0102 a0002c0002t0023g0102	1	105	0.0095	638	c.169 others(657): Show c.169+76778_169+76779insGCCACCTGCCCCAGACCCACCTCCTG ACCAAGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGCCCCAG GCCCACCTCCTGCCCCGGCCACCTGCCCCAGAGCCACCTCCTGCCCCGGC CACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCCACC TCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGC CCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGCCCACCTCCTGCC CCGGCCACCTGCCCCAGGCCCACCTCCTGCCCCGGCCACCTGCCCCAGGC CCACCTCCTGCCCCGGCCACCTGACCCAGGCCCACCTCCTGCCCCGGCCA CCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTC CTGCCCTGGCCACCTGCCCCAGGCCCACCTCCTGCCCCCGCCAACTGCCC CAGGCCCACCTCCTGCCCCCGCCAACTGCCCCAGGTCTACCTCCTGCCCC GGCCACCTGCCCCAGACCCACCTCCTGCCCCGGCCACCTGTCCCAGGCCC ACCTCCTGCCCCAGACCCACCTCCCGCCCCAGCCACCTGCCCCAGAGCCA CCTCCTGCCCCG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357793	G G	GTGAGGGG others(631): Show GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTG TGAGGGGAGGTGGTCACACTGAGGAGAGGTGGTCATAGTGTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGT GAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGTGAGGGGAGGT GGTCACACTGAGAGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTG AGTGAGGAGGTAGTCACACTGAGGGGAAGTGGTCACACTGAGGGGAGGTG GTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATACTGTGA GTGAGGAGGTAGTCACACTGAGGGGAGGGGGTCATACTGCAAGTGGAGGT AGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCATAGTG TGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTG GTCACAGTGTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0055 a0005c0008t0001g0055	1	201	0.0050	638	c.351 others(657): Show c.3514-2415_3514-2414insAGGGGAGGTGGTCACACTGAGGGGAG GTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACAC TGAGGGGAGGTGGTCACACTGTGAGGGGAGGTGGTCACACTGAGGAGAGG TGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACT GAGGGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGGT GGTCACACTGTGAGGGGAGGTGGTCACACTGAGAGGAGGTGGTCACACTG AGGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAAG TGGTCACACTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCACACTGA GGGGAGGTGGTCATACTGTGAGTGAGGAGGTAGTCACACTGAGGGGAGGG GGTCATACTGCAAGTGGAGGTAGTCACACTGTGAGGGGAGGTGGTCACAC TGAGAGGAGGTGGTCATAGTGTGAGGGGAGGTGGTCACACTGAGGGGAGG TGGTCACACTGAGGGGAGGTGGTCACAGTGTGAGGGGAGGTGGTCACAGT GTGAGGGGAGGTGGTCACACTGAGGGGAGGTGGTCATAGTGTGAGGGGAG GTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNOT3_chr19_54132762_54160681	54133882	T T	TCTCTCTC others(631): Show TCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCTCC ACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0029	1	217	0.0046	638	c.-41 others(649): Show c.-4162_-4161insCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCT CTCCCTCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCC	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3879		chr19	TogoVar
COL21A1_chr6_56051590_56252580	56098080	A A	AATAAATA others(631): Show AATAAATATATATAAATATATATAAATATAAATATATATATAAATATGTA ATTCTAAATATATATGTAAATATATATAAATATAAATATATTTATAAATA TATAAATATATATATATTTATAAATATATAAATATATATAAAAATATATA TAAATATATAAAAAAATATAAATAGATATAAATATATAAATATATGTAAA TATATATAAATATATATATAAATATATATATAAATATATATATAAATATA TATATATATATAAATATATATATAAATATATATATAAATATATATATAAA TATATATATAAATATATATAAATATATAACTATATAAATAAATATATATA AATATATAAATATATAAAAATATATATAAATATATATGTAAATATATAAA TATATATAAATATATATAAATATATATAAGTATATAAATATATATAAATA TATATAAGTATATAAATATATATAAATATATATAAGTATATAAATATATA TATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTATA TAAATATATATATAAATATATATAAGTATATATAAATATATATAAGTATA TATAAATATATAAAAATATATATAAGTATATATAAATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0138 a0001c0001t0021g0138	1	119	0.0084	638	c.181 others(657): Show c.1812+3391_1812+3392insATATTTATATATACTTATATATATTT TTATATATTTATATATACTTATATATATTTATATATACTTATATATATTT ATATATATATTTATATACTTATATATATTTATATATATATTTATATACTT ATATATATTTATATATATATTTATATACTTATATATATTTATATATATTT ATATACTTATATATATTTATATATATTTATATACTTATATATATTTATAT ATATTTATATATATTTATATATTTACATATATATTTATATATATTTTTAT ATATTTATATATTTATATATATTTATTTATATAGTTATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATATATATTTATATATATATTTATATATATATTTATATAT ATATTTATATATATTTACATATATTTATATATTTATATCTATTTATATTT TTTTATATATTTATATATATTTTTATATATATTTATATATTTATAAATAT ATATATATTTATATATTTATAAATATATTTATATTTATATATATTTACAT ATATATTTAGAATTACATATTTATATATATATTTATATTTATATATATTT ATATATATTTAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255845	G G	GAGGGGGA others(631): Show GAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA AGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0210 a0003c0014t0001g0210	1	208	0.0048	638	c.85- others(655): Show c.85-13112_85-13111insTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCT CCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTTCCCCT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(631): Show AAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGC AGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0072 a0001c0007t0001g0072	1	216	0.0046	638	c.85- others(655): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGC CTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTT CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978382	A A	ATATATAT others(631): Show ATATATATTTATATATATATATTTATATATATATTTATATATATATATTT ATATATATTTATATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATTTATATATATATTTATATATATTTATATATATTTATATATTTAT ATATTTATATATATTTATATATTTATATATATATTTATATATATTTATAT ATTTATATATATATTTATATATATTTATATATTTCTATATATATTTATAT ATATTTATATATTTATATATATTTATATATATTTATATATTTATATATAT TTTTATATATTTATATATATATTTATATATTTATATATATATTTATATAT ATATTTATATATTTATATATATTTATATATATTTATATATTTATATATAT TTATATATATTTATATATATTTATATATTTATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	82	0.0122	638	c.-2+ others(655): Show c.-2+56184_-2+56185insAATATATATAAATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATATAAATATATATA AATATATATATAAATATATATAAATATATATAAATATATAAATATATATA AATATATATAAATATATATAAATATATAAATATATATAAATATATATAAA TATATAAATATATATATAAATATATATATAAATATATAAATATATATATA AATATATAAAAATATATATAAATATATAAATATATATAAATATATATAAA TATATAAATATATATAAATATATATAGAAATATATAAATATATATAAATA TATATATAAATATATAAATATATATAAATATATATATAAATATATAAATA TATATAAATATATAAATATATAAATATATATAAATATATATAAATATATA TATAAATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATATAAATATATATAAATATATATATAAATATATATA TAAATATATATAAATATATATATATAAATATATATATAAATATATATATA TAAATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(631): Show CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCCTCCCACA GCCGGATCCGAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCA GGACAGCACCCACCCACCCCCCCTCCCACAGCCGGATCCGAGGACAGCAC CCACCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCA CAGCCGGATCCCAGGACAGCACCCACCCACCCCCCCTCCCACAGCCGGAT CCGAGGACAGCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCA CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCCAGG ACAGCACCCACCCACCCCTCCCACAGCCGGATCCGAGGACAGCACCCACC CCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC AGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGAC GGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19074.hp2 HG00597.hp2 NA19074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0015 a0001c0005t0002g0016 a0001c0005t0002g0015 a0001c0005t0002g0016	2	74	0.0270	638	c.86- others(655): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCCGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGT GGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCG TCCTGGGATCTGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCG GCTGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGG GTGGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGC TGTGGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGT GCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGTGGGTGCTGTCCTG GGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTGT GGGAGGGGTGGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGGGGTGGGT GGGTGCTGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTCC TCGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCTGTCCTGGGATCCGGC TGTGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(631): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTA TTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTA CGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAA ATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGACGGCCTCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0032 a0001c0001t0005g0032	1	28	0.0357	638	c.243 others(657): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGACGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTACGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGACGGCCTCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(631): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTA TTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTA CGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAA ATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTCATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01071.hp1 HG01433.hp1 others(4): Show HG00558.hp1 HG01071.hp1 HG01433.hp1 HG01952.hp1 HG02129.hp2 HG03579.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0017 others(3): Show a0001c0001 a0001c0007 a0001c0017 a0002c0005 a0002c0013 a0002c0014	a0001c0001t0016 a0001c0007t0005 a0001c0007t0019 others(4): Show a0001c0001t0016 a0001c0007t0005 a0001c0007t0019 a0001c0017t0020 a0002c0005t0024 a0002c0013t0018 a0002c0014t0025	a0001c0001t0016g0005 a0001c0007t0005g0038 a0001c0007t0019g0037 others(4): Show a0001c0001t0016g0005 a0001c0007t0005g0038 a0001c0007t0019g0037 a0001c0017t0020g0033 a0002c0005t0024g0031 a0002c0013t0018g0026 a0002c0014t0025g0029	7	34	0.2059	638	c.243 others(657): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGACGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTACGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTCATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
DPP6_chr7_154047398_154899285	154063328	C C	CCCCCCCG others(631): Show CCCCCCCGGCTTAGGGCCCCCATCGTTGATCCTAAGATCCTTAGGACCCA CCTGGAGGACTGTGGGTATTAGGTGTCCAAGTAGAGAGTTCACATCTTCT GACGGCAGGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCAGGTTA TTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAATTCTTA CGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTTTGCAGTATTAGC CAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTTGAA ATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATCTTC TGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCATTG TATGCATCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAACTGT GGGGCCCTGGCTGAGGCCGGTAGCCTACGTCTCTAAACAACTAGACAGGG TTGCTAAAGGATGGCCCCCCTATTTGAGGGCCTTGGCAGCAACTGCCCTG CTAGTACAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACATAAA GGCCCCCCATTTTGTGATGGCTGAGATCCATCCCCTCTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0030 a0002c0002t0022g0030	1	28	0.0357	638	c.243 others(657): Show c.243+10265_243+10266insCCCCCCGGCTTAGGGCCCCCATCGTT GATCCTAAGATCCTTAGGACCCACCTGGAGGACTGTGGGTATTAGGTGTC CAAGTAGAGAGTTCACATCTTCTGACGGCAGGACGGTCCGAACGCAGCTC GGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGGCA GAAGGCAGGTGAGAGAATTCTTACGAGCTGTGGGGTTTTGTAGACTGTGG ATCCCAAACTTTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCATCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCGGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTTGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTGATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTGATGGCTGAGAT CCATCCCCTCTT	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25			chr7	TogoVar
EHMT1_chr9_137614005_137841127	137716247	G G	GGTGTCAT others(631): Show GGTGTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAAGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAG TTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGG GGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTT GTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAG GAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGG GGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGGAGGAAGT TGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGG GAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	157	0.0064	638	c.86- others(651): Show c.86-376_86-375insTCATGGTGGGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGGGAGGAAGTT GTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGG AAGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGT CATGGTGGGGGGAGGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTG GTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGGAGGAA GTTGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FBXL14_chr12_1560993_1599581	1574398	G G	GAGAGGAG others(631): Show GAGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGGGGGAGGC TGGCGGCAGCACTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAG CCGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGA GGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGT GAGGGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGG CTGGGGTGAGGGGAGGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGG GTGGAGGCTGGGGTGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTG GGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGG GAGGCTGGGGTGGGGGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTG GGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAG GGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0065 a0001c0003t0004g0065	1	386	0.0026	638	c.119 others(657): Show c.1195-7589_1195-7588insTCACCCAGCCTCCACCCACACCGCTG CCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCA GCCTCCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCC CCACCCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAG CCTCCTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCA CCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCT CCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCCCTCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCC CCTCACCCCAGCCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCA GCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCC ACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCCCAGCC TCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCAC AGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCA CCAGCCTCCTCT	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(631): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	325	0.0031	638	c.467 others(653): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGCCTG others(631): Show GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	325	0.0031	638	c.467 others(653): Show c.467-946_467-945insCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTT AGGACGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(631): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19066.hp2 NA18946.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	326	0.0061	638	c.467 others(653): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	889979	G G	GGGGTCTG others(631): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18984.hp2 NA18985.hp1 others(2): Show NA18612.hp2 NA18984.hp2 NA18985.hp1 NA18999.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0074 a0001c0001t0001g0009 a0001c0001t0001g0052 a0001c0001t0001g0074	5	329	0.0152	638	c.467 others(653): Show c.467-916_467-915insCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GET4_chr7_871554_901436	890019	G G	GGGGTCTG others(631): Show GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGAC GGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGG AGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGA GCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGAC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	372	0.0027	638	c.467 others(653): Show c.467-876_467-875insCAGGACGGGGCCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGCCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG CCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGCCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT CAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGC GAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGT TAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGG TCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGG AGGGAGCGCGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGA GCGGGTGT	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(631): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0033 a0001c0003t0002g0033	1	169	0.0059	638	c.-97 others(655): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATGTATATTTATTCATATATAAATATATATAAATATACATG TATATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCA TATATAAATATATATAAATATACATGTATATTTATTCATATATAAATATA TATAAATATACATGTATATTTATTCATATATAAATATATATAAATATACA TGTATATTTATTCATATATAAATATATATAAATATACATGTATATTTATT CATATATAAATATATATAAATATACATGTATATTTATTCATATATAAATA TATATAAATATACATGTATATTTATTCACATATAAATATATATAAATATA CATGTATATTTATTCACATATAAATATATATAAATATACATGTATATTTA TTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(631): Show CCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACC ACTCACCCGAAAGATCCCTCTCCACCCTCCAACCACCACTCACCCGAAAG ATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTC CACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCGCC ATCACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACTCACC CGAAAGATCCCTCCCCATCCCCCCCCACCACTCACCCGAAAGATCCCTCT CCACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAAC CACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCG AAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTC CACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCA	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0058	a0001c0001t0058g0066 a0001c0001t0058g0066	1	341	0.0029	638	c.64+ others(655): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGAT GGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGGGGGGGATGGGGA GGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCGGG TGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGT GGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGAGGGTGGAGAGGGATCT TTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTG GTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIF3B_chr20_32272651_32340011	32322672	T T	TTATATAT others(631): Show TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATTTAT ATATATATTTATATATATTTATATATATATTTATATATATTTATATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATTTATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0078 a0001c0002t0023g0078	1	217	0.0046	638	c.174 others(657): Show c.1749-4092_1749-4091insATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATTTATATATATATTTATATATATTTATATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATATTTATATATATTT ATATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT TTATATATATAT	KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr20	TogoVar
LAIR1_chr19_54346384_54369931	54349497	T T	TGGATGGA others(631): Show TGGATGGATGGAGGACGCAGATCCTGAGGATGGATGGAGGGAGGACACAG ATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTGAATGGATG GAGGACGCAGATCCTGAGGGTGGATGGATGGAGGGAGGACGCAGATCCTG AGGATGGATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGAC ACAGATCCTGAGGGTGGATGGATGGAGGACAGAGATCCTGAGGATGGATG GAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTG AGGGTGAATGGATGGAGGACACAGATCCTGAGGGTGAATGGATGGAGGAC ACAGATCCTGAGGGTGGATGGATGGAGGGAGGACACAGATCCTGAGGATG GATGGAGGGAGGACACAGATCCTGAGGATGGATGGAGGGAGGACGCAGAT CCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGATGGATGGAGGGA GGACGCAGATCCTGAGGATGGATGGAGGGAGGACGCAGATCCTGAGGGTG AATGGATGGAGGACACAGATCCTGAGGGTGAATGGATGGAGGACACAGAT CCTGAGGGTGGATGGATGGAGGGAGGACGCAGATCCTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01123.hp2 HG01192.hp2 others(20): Show HG00642.hp2 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG02109.hp1 HG02258.hp2 HG02451.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp1 HG02922.hp2 HG02965.hp2 HG03139.hp2 HG03225.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(10): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0002t0001g0075 a0001c0002t0003g0025	23	336	0.0685	638	c.57 others(649): Show c.5770_*5771insTCAGGATCTGCGTCCTCCCTCCATCCATCCACCC TCAGGATCTGTGTCCTCCATCCATTCACCCTCAGGATCTGTGTCCTCCAT CCATTCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTG CGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCCTCCATCCATCC TCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCT CCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCCATCCACCCTCAGGA TCTGTGTCCTCCATCCATTCACCCTCAGGATCTGTGTCCTCCATCCATTC ACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCT CCCTCCATCCATCCTCAGGATCTCTGTCCTCCATCCATCCACCCTCAGGA TCTGTGTCCTCCCTCCATCCATCCTCAGGATCTGTGTCCTCCCTCCATCC ATCCTCAGGATCTGCGTCCTCCCTCCATCCATCCACCCTCAGGATCTGCG TCCTCCATCCATTCACCCTCAGGATCTGCGTCCTCCCTCCATCCATCCTC AGGATCTGTGTCCTCCCTCCATCCATCCTCAGGATCTGCGTCCTCCATCC ATCC	LAIR1	ENSG00000167613.16	transcript	ENST00000391742.7	protein_coding		1886		chr19	TogoVar
LHFPL3_chr7_104323603_104913561	104824299	T T	TATTATAT others(631): Show TATTATATATATATTATATTATATATTATATATAATTATATATATTTTAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATATTATATATTATATATTATATATTATATATATTATATA TTATATATACAATTATATATATTATATATATTATATATTATATAATATAT TATATATATAATATATATTATATATTATATATTATATAATATATTATATA TATAATATATTATATATTATATATTATATAATATATTATATATTATATAT ATTATATATTATATATTATATATTATATATATAATATATATTATATATTA TATATTATATATAATATATATTATATATATTATATATAATATATATAATT GTATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATAATATATTATATATAATATATAATATATAATATATATTATATATA TAATATATTATATAATATATTATATATATAATATATATTATATATTATAT ACAATATATTATATATTATATACATTATATATTATATAC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	61	0.0164	638	c.683 others(657): Show c.683-81878_683-81877insTATTATATTATATATTATATATAATT ATATATATTTTATATATTATATATTATATATTATATATTATATATTATAT ATATTATATATTATATATTATATATATTATATATTATATATTATATATTA TATATATTATATATTATATATACAATTATATATATTATATATATTATATA TTATATAATATATTATATATATAATATATATTATATATTATATATTATAT AATATATTATATATATAATATATTATATATTATATATTATATAATATATT ATATATTATATATATTATATATTATATATTATATATTATATATATAATAT ATATTATATATTATATATTATATATAATATATATTATATATATTATATAT AATATATATAATTGTATATATAATATATAATATATAATATATATAATATA TAATATATAATATATAATATATAATATATATAATATATTATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATTATATATATAATATATTATATAATATATTATATATATAATATATA TTATATATTATATACAATATATTATATATTATATACATTATATATTATAT ACATTATATATA	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(631): Show ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTATATATATTTATATATAGTTAT ATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTAT GTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATTTATATATATAGTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATTTATATATATTTATAT ATGTATTTATATATATTTATATATATTTATATGTATTTATATATATTTAT ATATATTTATATATATATATATAAATATATTTATATATATAAATATAAAT ATTTATATATATTTATATATATTTATATATATATTTATGTATATTTATAT ATATTTATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0153 a0003c0003t0006g0153	1	80	0.0125	638	c.125 others(655): Show c.125+9673_125+9674insATTTATATATATATTTATATATATTTAT ATATATATTTATATATATATATTTTTATATATATTTATATATATTTATAT ATATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGT ATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTT ATATATATATATTTTTATATATATAGTTATATATATATTTATATATATAG TTATATATTTATATATATTTATATATATTTATATATATATTTATATATTT ATTTATATATATTTATATATGTATTTATATATATTTATATATATTTATAT GTATTTATATATATTTATATATATTTATATATATATATATAAATATATTT ATATATATAAATATAAATATTTATATATATTTATATATATTTATATATAT ATTTATGTATATTTATATATATTTATATATATATTTATGTATATTTATAT ATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(631): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0081 a0002c0002t0004g0081	1	6	0.1667	638	c.368 others(655): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(631): Show CCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCG GGCCACGTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTACACA CCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTAC TACACACCCGGGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTT ACCTACTACACACCTGGGCCGCTTACTTACCTACTACACACCCGGGCCGC TTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0031 a0001c0004t0031	a0001c0004t0031g0274 a0001c0004t0031g0274	1	6	0.1667	638	c.368 others(655): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAG TAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCAGGT GTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGC CCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTA AGCGGCCCGGGTGTGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LUC7L_chr16_183990_234449	186119	G G	GGAGGAAC others(631): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0291	1	310	0.0032	638	c.30 others(649): Show c.3078_*3079insTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGT TCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC TCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGT GTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2870		chr16	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(631): Show CCACCACCACCATCACCACCACCACCCTTCACCACCACCACCACCACCAC CACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCATCACC ACCACCATCACCATCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCA CCATCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	297	0.0034	638	c.391 others(653): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCA CCATCACCACCACCATCACCATCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCATCACCACCACCATCACCATCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCAC CACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579243	C C	CCATCACC others(631): Show CCATCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACC ATCACCACCACCACCATCACCACCACCATCACCATCACCACCACCACCAT CACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCAC CACCACCATCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCA CCACCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCACCAC CACCATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCA CCACCATCACCACCATCACCACCACCACCACCACCACCA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	252	0.0040	638	c.391 others(653): Show c.391+746_391+747insATCACCACCACCACCATCACCACCACCACC ACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCATCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA TCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCATCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCACCAC	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MICAL3_chr22_17782649_18029561	17877396	G G	GGGAGGTT others(631): Show GGGAGGTTATGGAGGTTAGGGAGGTTAGGGGAGCTTATGGAGGTTAGGGA GGTTAGGGAGGTTATGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTA GGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGCTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGGTAGGGGT TAGGGAGGTTGGAGGTTAGGGAGGTTAGGGAGGTTAGGGAGGTTATGGAG GTTAGGGGAAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTT AGATGAGGTTAGGGATGTTATGGAAGGTTAGGGAGGTTACGGTAGGTTAA TGGAGGTTAGGGAGTAAGGTTATGGAGGTTATGGGAGGTTAGGGAGGTTA GGGAGTTAGAGTTAGGGAGGTTAGGGAGTAGGTATGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGGTTAGGGAGGTTATGAGAGTTATGGAGGTTAGG GAGGTCTATGAAGGTTAGGGAGGTTAGACGGAAGGTTAT	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0146 a0006c0011t0001g0146	1	145	0.0069	638	c.224 others(657): Show c.2242-5374_2242-5373insATAACCTTCCGTCTAACCTCCCTAAC CTTCATAGACCTCCCTAACCTCCATAACTCTCATAACCTCCCTAACCCTC CATAACCTCCCTAACCTCCCTAACCTCCATACCTACTCCCTAACCTCCCT AACTCTAACTCCCTAACCTCCCTAACCTCCCATAACCTCCATAACCTTAC TCCCTAACCTCCATTAACCTACCGTAACCTCCCTAACCTTCCATAACATC CCTAACCTCATCTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTA ACCTTCCCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCCTAACC TCCAACCTCCCTAACCCCTACCCCTAACCTCCATAACCTCCCTAACCTCC ATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACTTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAAGCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAGC TCCCTAACCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCAT AACCTCCCTAACCTCCCTAACCTCCATAAGCTCCCCTAACCTCCCTAACC TCCATAACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(631): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATGTATATAAATATATATATTTAAATATAAGTATGTATATAAATATA TATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTA TATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATATT TCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATA AAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAAT ATAAGTATGTATAAATATATATTTAAATATAAGTAGTATATATAAAAAAT ATATATATTTTAAATATAAGTATATATAAAAATATATATATTTAAATATA AGTATATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATA TATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAAATATATAT ATTTAAATATAAGTATATATAAAAATATATATTAAATATAAGTATATATA AAAATATATATATTTAAATATAAGTATATATATAAAAAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0167 a0001c0001t0006g0167	1	156	0.0064	638	c.358 others(655): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTAAATATAAGTATGTATATAAATATATATATTTAAATATAAGTAT GTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATAT TTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATATATAA AAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCAAT ATAAGTATGTATAAAAAATATATATATTTCAATATAAGTATGTATAAATA TATATATTTCAATATAAGTATGTATAAATATATATTTAAATATAAGTAGT ATATATAAAAAATATATATATTTTAAATATAAGTATATATAAAAATATAT ATATTTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTAT ATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATTAAAT ATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATATAAAA ATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYT1L_chr2_1784113_2336275	1952717	T T	TCCTTCCT others(631): Show TCCTTCCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCT TCTCTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCT CTTCCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTT CCCTCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCC TCCCTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCC CTCCCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTC CCTCCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCT CCCCCTTCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCC CCTTCCTCCCTCTGTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCT TCCTCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCC TCCCTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTCCCCCTTCCTCC CTCTCTCCCTCCCTCCTTCTCTTCCCTCCCTCCCTTTCTTTCCTTCCCTC CTTCCTTTCCTTCCCTTCTTTCCCTCCTTCCTTCCTTTC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0059 a0001c0003t0002g0059	1	18	0.0556	638	c.153 others(655): Show c.153-9384_153-9383insGAAAGGAAGGAAGGAGGGAAAGAAGGGA AGGAAAGGAAGGAGGGAAGGAAAGAAAGGGAGGGAGGGAAGAGAAGGAGG GAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAG GGAGAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGA GAGAGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGACAG AGGGAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGG GAGGAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAG GAAGGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAA GGGGGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGG GGAGGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGA GGGAGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGG AGGGAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGG GAGGGAAGAGAAGGAGGGAGGGAGAGAGGGAGGAAGGGGGAGGGAGGGAG GGAAGGAAGG	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	8/24			chr2	TogoVar
NTM_chr11_131365615_132341822	131681036	T T	TGTGTGTT others(631): Show TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTC CCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTG TGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTA TGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCG TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTT TCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATG TCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTG TGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTATCCCTGTTTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTG TGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02922.hp2 others(4): Show HG01243.hp1 HG01884.hp2 HG02922.hp2 HG03130.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009	a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0023 a0001c0001t0001g0042 a0001c0001t0002g0022 a0001c0001t0004g0005 a0001c0001t0004g0029 a0001c0001t0007g0021 a0001c0001t0009g0050	7	84	0.0833	638	c.83- others(657): Show c.83-230495_83-230494insTGTGAGCGTGTGTGTTTCTGTGTCTG TGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTCTC CCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTCCCTGTGTGTG TGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTATGTGAGCTTG TTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTC TGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCC TGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTG TGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCA TGTGTGTTTCTGTGTCTGTATGTATCCCTGTTTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTTTCTGTGTCTGTATG TCTCCCTGTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NTM_chr11_131365615_132341822	131681036	T T	TGTGTGTT others(631): Show TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTC CCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTG TGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTA TGTGAGCTTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCG TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTT TCTGTGTCTGTATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATG TCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTG TGTGTGAGCATGTGTGTTTCTGTGTCTGTATGTCTCCCTGTTTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTG TGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0070 a0001c0001t0008g0070	1	78	0.0128	638	c.83- others(657): Show c.83-230495_83-230494insTGTGAGCGTGTGTGTTTCTGTGTCTG TGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTCTC CCTGTGTGTGTGAGCATGTGTGTTTCTGTCTGTATGTCTCCCTGTGTGTG TGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAG CGTGTGTGTTTCTGTGTCTGTGTGTATATCTCCCTGTGTATGTGAGCTTG TTTCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTC TGTGTCTGTATGTCTCCCTGTGTGTGTGAGCATGTGTGTTTCTGTGTCTG TATGTCTCCCTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCC TGTGTGTGTGAGCGTGTGTGTTTCTGTGTCTGTGTGTATGTCTCCCTGTG TGTGTGAGCGTGTGTGTTTCTGTGTCTGTATGTCTCCCTGTGTGTGAGCA TGTGTGTTTCTGTGTCTGTATGTCTCCCTGTTTGTGTGAGCGTGTGTGTT TCTGTGTCTGTGTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTGTTTCTG TGTCTGTATGTCTCCCTGTGTGTGTGAGCGTGTGTTTCTGTGTCTGTATG TCTCCCTGTGTG	NTM	ENSG00000182667.15	transcript	ENST00000683400.1	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGCT others(631): Show GGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGG ACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGCTGGAGTCAGAGAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTA CCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTG GAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAG ACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGG GGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGG CAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCA AGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0022 a0001c0002t0008g0022	1	154	0.0065	638	c.360 others(657): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTC TGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCC AACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCA GCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCC GGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCCGCCCA others(631): Show CCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	161	0.0062	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCT GGCTGGGCGG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCAGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	161	0.0062	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCAGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	161	0.0062	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCTGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18947.hp2 HG03491.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0136 a0001c0001t0001g0005 a0001c0001t0001g0136	2	162	0.0123	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA19067.hp1 NA19086.hp1 NA18956.hp1 NA19067.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0102 a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0102	3	163	0.0184	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCTGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	161	0.0062	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02683.hp1 NA18943.hp1 others(2): Show HG01361.hp2 HG02683.hp1 NA18943.hp1 NA18980.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0087 others(2): Show a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0093	5	165	0.0303	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGTCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	161	0.0062	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGACCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(631): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGT CAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	161	0.0062	638	c.537 others(655): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGC TGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(631): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0068 a0001c0006t0001g0068	1	157	0.0064	638	c.106 others(655): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTG CATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(631): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATGTGTATATATATATATGTATATATATATATATTATATATG CATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATT CTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATC CATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0309 a0001c0001t0003g0309	1	63	0.0159	638	c.98- others(653): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TGTGTATATATATATATGTATATATATATATATTATATATGCATATTATG TTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAGAC CCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTAGG AACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCACTG TCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3181336	A A	AGTCTTAC others(631): Show AGTCTTACACACGGTCTTACACACACGGTCTTACACACGCAGTCTTACGG TCTTACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGC AGTCTTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTAC ACAAGCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCAT GGTCTTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTAC ACACGGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACAC ACGGTCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACAC ATGCAGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGC GCAGTCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACAC ACGGTCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTAC ACATGCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGCCTT ACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTC TTACGGTCTTACACACGCAGTCTTATGGTCTTACACACG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	202	0.0050	638	c.38- others(653): Show c.38-4766_38-4765insACGGTCTTACACACGCAGTCTTACGGTCTT ACACACGGTCTTACACACACGGTCTTACACACAGTCTTACACACGCAGTC TTACACACGCAGTCTTACACAAGCAGTCTTACACACGCGGTCTTACACAA GCAGTCTTACGGTCTTACACACAGTCTTACACATGGCCTTACGCATGGTC TTACACACGCAGTCTTACACAAGCGGTCTTACACAAGCGGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACATGCAGTCTTACACACGG TCTTACATATGGTCTTACACATGCAGTCTTACACACGGTCTTACACATGC AGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACGCGCAG TCTTACACACGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGG TCTTACACACGGAGTCTTACACACGGAGTCTTACACACAGTCTTACACAT GCAGTCTTACACACGGTCTTACACACGCAGTCTTACACGCGGCCTTACAC ACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTTAC GGTCTTACACACGCAGTCTTATGGTCTTACACACGGTCTTACACACGGTC TTACACAC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF31_chr19_54110754_54136713	54133882	T T	TCTCTCTC others(631): Show TCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCTCC ACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCC TCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTCTCCACCTCCCCTCTC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCT CTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACC TCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	219	0.0046	638	c.24 others(649): Show c.2450_*2451insCTCTCTCTCCCTCCCTCTCTCCACCTCCCTCTCT CTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCTCTCCCTCCTCTCCACCTCCCCTCTCTCT CTCCCTCCTCTCTCCACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTCCCTCCCTCTCCACCTCCCTCTCTCTCTCCTCCCTCTC TCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCTCTCCCTCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTC CACCTCCCTCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCT CTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCC CTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2170		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(631): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTG GTGATGATGGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGAT GTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGT GATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0062 a0004c0006t0001g0062	1	199	0.0050	638	c.-46 others(649): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGATGGTGG TGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGGTGGTG ATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTGGT GGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGG GGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGAT GGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGG GGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAA TGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTG ATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGAT GATGGTGATGGTGATGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar

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