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
JAKMIP3_chr10_132060946_132189858	132173157	T T	TCCCCCTC others(403): Show TCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCTCTCTCTCCCCCTCTCTG TCCCCTCCCCTCCCCCTCTCCCCTCCCCCTCCCCCTCCCCCATCCCCCTC CCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCT CTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCTCCTTCCCTCTCTCT CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCT CCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTC CCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0003 a0003	a0003c0021 a0003c0021	a0003c0021t0001 a0003c0021t0001	a0003c0021t0001g0023 a0003c0021t0001g0023	1	151	0.0066	410	c.11 others(431): Show c.1103+4125_*1103+4126insCCCCTCCCCTCCCCCTCTCTCTCC CCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTC TCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCC TCCCCCTCTCTCTCCCCCTCTCTGTCCCCTCCCCTCCCCCTCTCCCCTCC CCCTCCCCCTCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCC CTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTC TCTCCCCCCTCCTTCCCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCC CCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KCNK2_chr1_215077737_215242090	215209590	T T	TATATAAA others(403): Show TATATAAAATAGATATATATAAAATATATAAAATAGATATTATATATAAA ATATATATAATATATATATAAAATAGATATTATATATAAAATATATATTA TATATTATATAAAATATATATTATATATTATATAATATATAATATATATT ATATATATTATATATTATATATTAAATATATATTATATATATAAAATATA TATAAAATATATATTATATAAAATATATATAAAATATATATTATATAAAA TATATATTATATATAAAATATATAATATATATAAAATATATACTATATAT AAAATATATAATATATATAAAATATATACTATATATAAAATATATAATAT ATATAAAATATATACTATATATAAAATATATATTATATATAAAATATATA CTATATATAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0046 a0001c0001t0011g0046	1	203	0.0049	410	c.963 others(429): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATAAAATATATATAAAATATATATTATATAAAATATATATAA AATATATATTATATAAAATATATATTATATATAAAATATATAATATATAT AAAATATATACTATATATAAAATATATAATATATATAAAATATATACTAT ATATAAAATATATAATATATATAAAATATATACTATATATAAAATATATA TTATATATAAAATATATACTATATATAAAATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(403): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATATATAAATATATATTTTTATATATATTTATATATA AATATATATTTTTATATATATTTATGTATATATTTATATATAAATATATA TTTATATATTTATATATATTTATATATATACATAAATATATATTTATATA TATTTATATATATACATAAATATATATTTATATATAAATATATATTTATA TATTTATATATATTTATATACATAAATATATATTTATATATATTTATATA CATAAATATATATTTATATATATTTATATATATTTATATACATAAATATA TATTTATATATATTTATATATATTTATATACATAAATATATATTTATATA TATTTATATAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	50	0.0200	410	c.639 others(427): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATAAATATATATTTATGTATATAAATATATATAA ATATATATTTATGTATATAAATATATATAAATATATAAATATATATTTAT ATATAAATATATATTTATGTATATATATAAATATATATAAATATATATTT ATGTATATATATAAATATATATAAATATATAAATATATATTTATATATAA ATATATACATAAATATATATAAAAATATATATTTATATATAAATATATAT AAAAATATATATTTATATATAAATATATATAAAAATATATATTTATATAT AAATATATTTATGTATATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KDM4B_chr19_4964113_5158598	5131563	A A	AGGCAGGG others(403): Show AGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAG GTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGG CAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCT GGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGG GGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGC AGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGG GGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGG TGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTG GCGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0036 a0001c0007t0007g0036	1	162	0.0062	410	c.178 others(427): Show c.1785+115_1785+116insGGCAGGTGGGGTGGGGCAGGGGAGGAGG GGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGA GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGC AGGTGGGGCACAGGGGAGCTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG GGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAG CTGGTGGCGGGGGAGGGGGCAGGGAGGAGGGG	KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr19	TogoVar
KIAA0930_chr22_45187244_45245894	45229004	A A	ACACCACC others(403): Show ACACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCA AACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCAC CCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGAT CCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCA CCCCCCCACCACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCAC CACCAAACACTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACA CTCACCCGAAAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGA AAGATCCCTCTCCACCCCCCCACCACCAAACACTCACCCGAAAGATCCCT CTCCACCCCCC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0282 a0001c0002t0005g0282	1	192	0.0052	410	c.64+ others(427): Show c.64+11635_64+11636insGGGGGGTGGAGAGGGATCTTTCGGGTGA GTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGT GGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGG GTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGG GATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGTTTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGT TTGGTGGTGGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTG GGGGGGTGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGGGGTGG AGAGGGATCTTTCGGGTGAGTGTTTGGTGGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(403): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGG CCACTTACTTACTTACTACATACCCGGGCCACTTACCTACTACACACCCG GGCCGCTTACTTACCTACTACACACCCGGGCCGCTTACTTACCTACTACA CACCCGGGCCGCTTACTTACCTACTACATACCCGGCCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0232 a0001c0001t0001g0232	1	6	0.1667	410	c.368 others(427): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGGCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTAAGTAAG CGGCCCGGGTGTGTAGTAGGTAAGTAAGCGGCCCGGGTGTGTAGTAGGTA AGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTA AGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(403): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATATTTATATATAATATATAATATATAATATATAATATATATTATATA TAATATATTATATATAATATATTATATATAATTATATATAATATATAATT ATATATTATATATAATTATATAATATATAATATATATATTATTATATATA TAATAATATATATATAATATATAATTATACATAATATATAATATATAATT ATAATATATAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0078 a0002c0002t0002g0078	1	270	0.0037	410	c.622 others(425): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATAATATATATTTATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATAATATATATTATATATAATATATTATATATAATATATTATATATAA TTATATATAATATATAATTATATATTATATATAATTATATAATATATAAT ATATATATTATTATATATATAATAATATATATATAATATATAATTATACA TAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909135	T T	TATATAAT others(403): Show TATATAATATATAATATATATTTATTAATAATATATATAATATATATATT TATTTATATATATATTATTATATGTATATAAATATATATATTTATTAATA TATATAAATATATATATTTATTAATAATATATATAATATATATATAATAT ATAATATATAATATATATTTATATATAATATATAATATATAATATATAAT ATATATTTATATATAATATATAATATATAATATATATTATATATTATATA TAATATATTATATATAATATATTATATATAATTATATATAATATATAATT ATATATTATATATAATTATATAATATATAATATATATATTATTATATATA TAATAATATATATATAATATATAATTATACATAATATATAATATATAATT ATAATATATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02602.hp2 NA20805.hp1 HG01074.hp1 HG02602.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0023 a0002c0002t0002g0115 a0002c0002t0002g0010 a0002c0002t0002g0023 a0002c0002t0002g0115	3	272	0.0110	410	c.622 others(425): Show c.622-755_622-754insATATAATATATAATATATATTTATTAATAA TATATATAATATATATATTTATTTATATATATATTATTATATGTATATAA ATATATATATTTATTAATATATATAAATATATATATTTATTAATAATATA TATAATATATATATAATATATAATATATAATATATATTTATATATAATAT ATAATATATAATATATAATATATATTTATATATAATATATAATATATAAT ATATATTATATATTATATATAATATATTATATATAATATATTATATATAA TTATATATAATATATAATTATATATTATATATAATTATATAATATATAAT ATATATATTATTATATATATAATAATATATATATAATATATAATTATACA TAATATATAATATATAATTATAATATATAA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7			chr12	TogoVar
LRRC23_chr12_6899822_6919229	6909274	T T	TATATATA others(403): Show TATATATAATTATATATAATATATAATTATATATTATATCTAATTATATA TAATATATATATATTATATATATAATAATATATATACAATATATAATTAT ATATTATATAATTATATATAATATATAATTATATATTATATATAATATAT AATTATATATTATATAATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATTAATATATAATTATATATAA TATATAATTATTAATATATAATTATATATAATATATAATTATATATTATA TAATAATATATAATTATATATTATATATAATTATATATTATATAATAACA TATAATTATATATAATATATAAATATATAATATATAAATATATAATATAT AAATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02074.hp2 HG00558.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	58	0.0345	410	c.622 others(425): Show c.622-596_622-595insTATAATTATATATTATATCTAATTATATAT AATATATATATATTATATATATAATAATATATATACAATATATAATTATA TATTATATAATTATATATAATATATAATTATATATTATATATAATATATA ATTATATATTATATAATAATATATAATTATATATTATATATAATATATAA TTATATATTATATAATAATATATAATTATTAATATATAATTATATATAAT ATATAATTATTAATATATAATTATATATAATATATAATTATATATTATAT AATAATATATAATTATATATTATATATAATTATATATTATATAATAACAT ATAATTATATATAATATATAAATATATAATATATAAATATATAATATATA AATATATATAATATATAATTATATATAATA	LRRC23	ENSG00000010626.15	transcript	ENST00000443597.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
MAD1L1_chr7_1810795_2237945	1930243	C C	CCGCTGCC others(403): Show CCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCC CGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCC TCGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGT CCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCGCTGCC ACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCAC CACCACGTCCA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	246	0.0041	410	c.180 others(429): Show c.1807+6443_1807+6444insTGGACGTGGTGGTGGGTTGTGGCAGT GGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGG GCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGGA CGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGGGGACGTGGCAGT GGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTG GCAGTGGGGGATGGGGCGAGGGGACGTGGCAGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930243	C C	CCGCTGCC others(403): Show CCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCGCCC CGTCCCCGCTGCCACGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCT CGCCCCGTCCCCACTGCCACAACCCACCACCACGTCCACACTGCCACGTC CCCTCGCCCCGTCCCCGCTGCCACGTCCCCCTCGCCCCGTCCCCGCTGCC ACGTCCCCTCGCCCCGTCCCCGCTGCCACGTCCCCTCGCCCCGTCCCCCA CTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTC CCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCC CATCCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCAC CACCACGTCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	246	0.0041	410	c.180 others(429): Show c.1807+6443_1807+6444insTGGACGTGGTGGTGGGTTGTGGCAGT GGGGACGGGGCGAGGGGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTG GCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGA CGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGGACGGGGCGA GGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGCGGGGACGGG GCGAGGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTGGCAGTGTGG ACGTGGTGGTGGGTTGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGT GGGGGATGGGGCGAGGGGACGTGGCAGCGGGGACGGGGCGAGGGGACGTG GCAGTGGGGGATGGGGCGAGGGGACGTGGCAGCG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAP3K13_chr3_185358136_185494094	185454242	G G	GATATATA others(403): Show GATATATATATGATACATATATATGAGATATATATATGATACATATATAT GAGATATATATATGATACATATATATGAGATATATATATGATACATATAT ATGAGATATATATATGATACATATATATGAGATATATATATGATACATAT ATATGAGATATATATATGATACATATATATGAGATATATATATGATACAT ATATATGAGATATATATATGATACATATATATGAGATATATATATGATAC ATATATATGAGATATATATATGATACATATATGAGATATATATATGATAC ATATATATGAGATATATATATGATACATATATATGAGATATATATATGAT ACATATATATGAGATATATATGATACATATATGAGATATATATGATACAT ATATATGAGAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0059 a0001c0016t0059	a0001c0016t0059g0052 a0001c0016t0059g0052	1	111	0.0090	410	c.127 others(429): Show c.1278+2855_1278+2856insATGATACATATATATGAGATATATAT ATGATACATATATATGAGATATATATATGATACATATATATGAGATATAT ATATGATACATATATATGAGATATATATATGATACATATATATGAGATAT ATATATGATACATATATATGAGATATATATATGATACATATATATGAGAT ATATATATGATACATATATATGAGATATATATATGATACATATATATGAG ATATATATATGATACATATATATGAGATATATATATGATACATATATGAG ATATATATATGATACATATATATGAGATATATATATGATACATATATATG AGATATATATATGATACATATATATGAGATATATATGATACATATATGAG ATATATATGATACATATATATGAGATATATATAT	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
MARCHF1_chr4_163519718_164389019	163894652	C C	CATATATA others(403): Show CATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATA TATATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATA TATATGCATGTGATGCATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATGCATGTGATGCATATATATATATGCATGTGATGC ATATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATAT ATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATAT GCATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCAT CACATGCATAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	5	0.2000	410	c.-38 others(429): Show c.-38-40484_-38-40483insATATGCATGTGATGCATATATATATA TGCATCACATGCATATATATATATGCATCACATGCATATATATATATGCA TCACATGCATATATATATATGCATCACATGCATATATATATGCATCACAT GCATATATATATGCATCACATGCATATATATATATGCATCACATGCATAT ATATATATGCATCACATGCATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATGCATCACATGCATATATATATATGCATCACA TGCATATATATATATGCATCACATGCATATATATATATGCATCACATGCA TATATATATATGCATCACATGCATATATATATAT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9			chr4	TogoVar
MBD3L3_chr19_7051207_7063676	7061743	A A	ATTATAAT others(403): Show ATTATAATATAATATAATTATATAATATATAATTTATATATAATATAATT ATATAATATATAATTTATATATAATATAATTATATAATATATAATTTATA TATAATATAATTATATAATATATAATTTATATATAATATAATTATATAAT ATATAATTTATATATAATATAATTATATAATATATAATTTATATATAATA TAATTATATAATATATAATTTATATATAATATAATTATATAATATATAAT TTATATATAATATAATTATATAATATATAATTTATATATAATATAATTAT ATAATATATAATTTATATATAATATAATTATATAATATATAATTTATATA TAATATAATTATATAATATATAATTTATATATAATATAATTATATAATAT ATAATTTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG03195.hp1 HG02572.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	287	0.0070	410	c.-31 others(421): Show c.-3139_-3138insATATAAATTATATATTATATAATTATATTATATA TAAATTATATATTATATAATTATATTATATATAAATTATATATTATATAA TTATATTATATATAAATTATATATTATATAATTATATTATATATAAATTA TATATTATATAATTATATTATATATAAATTATATATTATATAATTATATT ATATATAAATTATATATTATATAATTATATTATATATAAATTATATATTA TATAATTATATTATATATAAATTATATATTATATAATTATATTATATATA AATTATATATTATATAATTATATTATATATAAATTATATATTATATAATT ATATTATATATAAATTATATATTATATAATTATATTATATATAAATTATA TATTATATAATTATATTATATTATAA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3068		chr19	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(403): Show TATATATATTCATATATATATATTCATATATAGATTCATATATATATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATTCATATATATTCATATATATATTCATATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATATTCATATATATATTCATA TATATTCATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATTC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	129	0.0078	410	c.343 others(427): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATATGAATATATATATGAATATATATGAATATATATGAATATATATAT GAATATATATATGAATATATATATGAATATATATATGAATATATATATGA ATATATATGAATATATATATGAATATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATATGAATCTATATATGAATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATATGAAT CTATATATGAATATATATATATGAATATATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
METTL25B_chr1_156723469_156741960	156735539	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	385	0.0026	410	c.112 others(427): Show c.1122-170_1122-169insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02486.hp1 HG02602.hp2 others(4): Show HG01081.hp2 HG02486.hp1 HG02602.hp2 HG02818.hp1 HG02886.hp2 HG03239.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0008 a0001c0001t0001g0073	7	387	0.0181	410	c.112 others(427): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	381	0.0026	410	c.112 others(427): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735539	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAAACCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	359	0.0028	410	c.18 others(421): Show c.1858_*1859insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGTTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1763		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGACGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG02486.hp2 HG02602.hp2 others(4): Show HG01081.hp2 HG02486.hp2 HG02602.hp2 HG02818.hp1 HG02886.hp2 HG03239.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0010 a0001c0001t0001g0031 a0001c0001t0001g0032	7	361	0.0194	410	c.18 others(421): Show c.1857_*1858insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGTCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1762		chr1	TogoVar
MRPL24_chr1_156732303_156746088	156735540	A A	AAAAAAAA others(403): Show AAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGTAGACCC AGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCTACAGT GAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGACCCTG TCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAAGGTCA GGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGGAGCTT GTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAGAGCGA GACGCCATCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	355	0.0028	410	c.18 others(421): Show c.1857_*1858insGAGATGGCGTCTCGCTCTGTTGCCCAGGCTGGAG TGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCGGTTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTACTCGCC ACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC ATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTGCCAGCCTC GGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTCACCCAGGC TGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAACACCTCAAT CCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATGAGCTACCA TGCCTGCCTATTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1762		chr1	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TGTATATA others(403): Show TGTATATATATATGTATATATATGTATATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATGTATATATATATGTATATATATATGTATATATATATGTATATA TATATGTATATATATATGTATATATATATGTATATATATATGTATATATA TATGTATATATATATGTATATATATATGTATATATATATGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATATGTATATATATATGTATATATATATGTA TATATATATGTATATATATATGTATATATATATGTATATATATATGTATA TATATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	59	0.0169	410	c.484 others(425): Show c.484-693_484-692insGTATATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATACATATATATATACATATATAT ATACATATATATATACATATATATATACATATATATATACATATATATAT ACATATATATATACATATATATATACATATATATATACATATATATATAC ATATATATATACATATATATATACATATATATATACATATATATATACAT ATATATATACATATATATATACATATATATATACATATATATATACATAT ATATATACATATATATACATATATATATAC	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(403): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTATATATATTTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCATATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATTATATATATAAAA TCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0019 a0006c0008t0001g0020 a0006c0008t0001g0019 a0006c0008t0001g0020	2	275	0.0073	410	c.-5+ others(425): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT AAAATAAGATTTTATATATATAAAATATATATAAAATATGATTTTATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAAATATATATAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTTA others(403): Show ATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTATATATATTTTTATAT ATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTA TATATATTTTATATATATAAAATCTTATTTTATATATTATATATATAAAA TCTTATTTTATATATTATATATATATAAAATCTTATTTTATATATATTTT ATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTAT TTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTATAT ATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02155.hp1 HG01256.hp2 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0017 a0001c0001t0001g0018	2	275	0.0073	410	c.-5+ others(425): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATATAATATATAAAATAAGATTTTATATATATAATATAT AAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATA TATAAAATATATATAAAATAAGATTTTATATATATAAAAATATATATAAA TATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATT TTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATATA TATAAAATAAGATTTTATATATATAAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MTTP_chr4_99569824_99628997	99588899	A A	ACATATAT others(403): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATGTTCATATATATAT TCATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0001 a0016c0022t0001	a0016c0022t0001g0079 a0016c0022t0001g0079	1	261	0.0038	410	c.394 others(425): Show c.394-735_394-734insGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATGTTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUSK_chr9_110663791_110811558	110690669	T T	TATATATA others(403): Show TATATATATTTATATATAAGTATATATATAAATATATATATTTATATATA AGTATATATATAAATATATATATTTATATATAAGTATATATATAAATATA TATATTTATATATAAGTATATATATATTTATATATAAGTATATATAAATA TATATATTTATATATAAGTGTATATATATAAATATATATATTTATATAGA AGTATATATAAATATATATATTTATATATAAGTATATATAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAATATATATTTAAATATAAGTATATATATAAATATATATTTAAATATA AGTATATATATAAATATAAGTATATATATAAATATATATTTAAATATAAG TATATATATAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18957.hp2 HG02129.hp2 NA18957.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0062 a0005c0005t0002g0067 a0005c0005t0002g0062 a0005c0005t0002g0067	2	237	0.0084	410	c.358 others(427): Show c.358+3412_358+3413insTATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATTTATATATAAGTA TATATAAATATATATATTTATATATAAGTGTATATATATAAATATATATA TTTATATAGAAGTATATATAAATATATATATTTATATATAAGTATATATA AATATATATATTTAAATATAAGTATATATAAATATATATATTTAAATATA AGTATATATATAAATATATATTTAAATATAAGTATATATATAAATATATA TTTAAATATAAGTATATATATAAATATAAGTATATATATAAATATATATT TAAATATAAGTATATATATAAATATATATTTA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MVP_chr16_29815462_29853021	29843566	G G	GAGGGAGG others(403): Show GAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGT GAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGGAGTG AAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGA AGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGGGAGGGAGGAA GGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGA GGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0042	1	216	0.0046	410	c.163 others(427): Show c.1635-916_1635-915insAAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGAAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGA GGGAGGGAGTGAAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGGAAG GGAAGGGAGGGAGGAAGGGAGGAAGGGAGGGAGGGAGGGGAGGGAGGGAG GGAGGGAGTGAAGGGAGTGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAG GGAGTGAGGAAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGTGAAGGGAGG GAGGGAGGAAGGGAGGAAGGGAAGGGAGGGAGGAAGGGAGGAAGGGAGGG AGGGAGGGGAGGGAGGGAGGAAGGGAGGGAGG	MVP	ENSG00000013364.19	transcript	ENST00000357402.10	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO1C_chr17_1459186_1497686	1482669	C C	CCCCTCCC others(403): Show CCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCC CTCCCGCACTGGGCTTCTCTCCCTGCCCCTCCCCTCCCCTCCCGCACTGG GCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTG CCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCC TCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCCTCCTGCACTGGGC TTCTCTCCCTGCCCCTCCCCTCCCCTCCTGCACTGGGCTTCTCTCCCTGC CCCTCCCCTCCCCTCCCGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCC TCCTGCACTGGGCTTCTCTCCCTGCCCTCCCCTCCCCTCCCGCACTGGGC TTCTCTCCCTG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG03579.hp1 HG02886.hp2 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0004 a0001c0003t0007 a0001c0006t0011 a0001c0003t0004 a0001c0003t0007 a0001c0006t0011	a0001c0003t0004g0387 a0001c0003t0007g0262 a0001c0006t0011g0346 a0001c0003t0004g0387 a0001c0003t0007g0262 a0001c0006t0011g0346	3	423	0.0071	410	c.547 others(425): Show c.547-112_547-111insCAGGGAGAGAAGCCCAGTGCGGGAGGGGAG GGGAGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAGGGGAGGGCAGGGA GAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGT GCAGGAGGGGAGGGGAGGGGCAGGGAGAGAAGCCCAGTGCAGGAGGGGAG GGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGA GAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTG CAGGAGGGGAGGGGAGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGG GAGGGGCAGGGAGAGAAGCCCAGTGCGGGAGGGGAGGGGAGGGCAGGGAG AGAAGCCCAGTGCAGGAGGGGAGGGGAGGG	MYO1C	ENSG00000197879.17	transcript	ENST00000648651.1	protein_coding	4/31			chr17	TogoVar
MYT1_chr20_64159452_64247253	64178485	A A	AGTGGGAT others(403): Show AGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATA CCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	24	0.0417	410	c.-98 others(429): Show c.-98-11505_-98-11504insTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGGGATACCCTTCAACGTGGGAGCACTGAGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64178485	A A	AGTGGGAT others(403): Show AGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATA CCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	24	0.0417	410	c.-98 others(429): Show c.-98-11505_-98-11504insTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCTGT TATTCAGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGGGATACCCTTCAACGTGGGAGCACTGAGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64178530	G G	GGATACCC others(403): Show GGATACCCTTCAACGTGGGAGCACTGAGCTGTTATTCAGTGGGATACCCT TCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGAT ACCCTTCAACGTGGCAGCACTGAGCCGTTATTCGGTGAGATACCCTTCAA CGTGGGAGCACTGAGCCGTTATTCGGTGGGATGCCCTTCAACGTGGGAGC ACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCG TTATTCGGTGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02165.hp1 HG00597.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0004 a0001c0001t0001 a0001c0004t0004	a0001c0001t0001g0169 a0001c0004t0004g0209 a0001c0001t0001g0169 a0001c0004t0004g0209	2	222	0.0090	410	c.-98 others(429): Show c.-98-11505_-98-11504insTGTTATTCAGTGGGATACCCTTCAAC GTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCA CTGAGCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGT TATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTG GGATACCCTTCAACGTGGGAGCACTGAGCCGTTATTCGGTGGGATACCCT TCAACGTGGCAGCACTGAGCCGTTATTCGGTGAGATACCCTTCAACGTGG GAGCACTGAGCCGTTATTCGGTGGGATGCCCTTCAACGTGGGAGCACTGA GCCGTTATTCGGTGGGATACCCTTCAACGTGGGAGCACTGAGCCGTTATT CGGTGAGATACCCTTCAACGTGGGAGCACTGAGC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NCR1_chr19_54901148_54918073	54916317	C C	CTTTTTTT others(403): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAA GTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTG CAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGG TGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCC ACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCA CCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACT GTTCTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02074.hp2 NA19088.hp2 HG02056.hp2 HG02074.hp2 NA19088.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0019 a0003c0004t0006g0111 a0003c0004t0006g0019 a0003c0004t0006g0111	3	148	0.0203	410	c.34 others(421): Show c.3446_*3447insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGC GCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCACCACGCCCGG CTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAA ACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGA TTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTTTGACCAACAT CTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACCTACTCTCACT TCTAGGAGATCAACTGTTCTATTTTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3245		chr19	TogoVar
NEDD4L_chr18_58039226_58406539	58171217	A A	AGGACAGA others(403): Show AGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGC CCGCCTCATCACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCAT CACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGC CCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGA CAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACT GCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGC CTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACC CCAGCCCAAGG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	56	0.0179	410	c.122 others(427): Show c.122+5396_122+5397insAGGACAGAACACTGCTGCCCGCCTCATC ACCCCAGCCCAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCC CAAGAGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGAC AGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTG CTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCC TCATCACCCCAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCC CAGCCCAAGGGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAG GGGACAGAACACTGCTGCCCGCCTCATCACCCCAGCCCAAGGGGACAGAA CACTGCTGCCCGCCTCATCACCCCAGCCCAAG	NEDD4L	ENSG00000049759.20	transcript	ENST00000400345.8	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr18	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(403): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCAGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0314 a0001c0001t0139g0314	1	53	0.0189	410	c.47 others(419): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCAGTCTGTCC CATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCA TTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCAT CCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCC CCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NFILZ_chr19_8625633_8686151	8678091	T T	TTCCATCC others(403): Show TTCCATCCATCCATCCATTCTTCCATCCACCCATTCATTAGTTTATCCAT CCTCACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCAT TCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCC ATTCATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCT GTCCCATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCA TCCATTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATT CCATCCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCC ATCCCCATCCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp2 HG01069.hp2 HG01071.hp2 others(9): Show HG00639.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp2 HG01884.hp1 HG02280.hp2 HG02559.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0140 a0001c0001t0141 a0001c0001t0005 a0001c0001t0140 a0001c0001t0141	a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0022 others(9): Show a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0022 a0001c0001t0005g0028 a0001c0001t0005g0031 a0001c0001t0005g0058 a0001c0001t0005g0105 a0001c0001t0005g0141 a0001c0001t0005g0240 a0001c0001t0005g0310 a0001c0001t0140g0021 a0001c0001t0141g0338	12	64	0.1875	410	c.47 others(419): Show c.473_*474insTCTTCCATCCACCCATTCATTAGTTTATCCATCCTC ACCCATCCACCCATCCATCCATTCATCCATCCATCCTTTCATCCATTCAT CCACTTGTCCATCCATCCATCCATCCATCCATCCATCCTTCCATCCATTC ATCCACTTGTCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATTTGTCCATCCATCCATCCACCTATCCATCCATCCGTCCGTCTGTCC CATCCGTCCATCCATCCGTCCGTCCGTCCATCCATCCATCCATCCATCCA TTCTTCCATCCATCCATCCATTCAGCCATCCATCCATCCATCCATTCCAT CCATCCATCCATCCATTCTTCCATCCATCCATTCATTAGTTTATCCATCC CCATCCATCCATCCATCCATCCAT	NFILZ	ENSG00000268480.4	transcript	ENST00000691075.1	protein_coding	6/6	474	INFO_REALIGN_3_PRIME	chr19	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(403): Show CTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTGTACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACAG TATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTA TGTATACCGTATATATACACAGTATGTATACTGTGTATGCAGTATGTATA CAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATATATACACTATACAGTATGTATACTGTATATATACA CACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATATA CACACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATATA TACACACAGTA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0149 a0001c0001t0009g0149	1	118	0.0085	410	c.-75 others(429): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATA CACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACATACAGTATACATACATACAGTATACATGCTGTACACAGT ATACATGCTGTACACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHLRC4_chr16_562005_574495	571108	T T	TGCCTAGC others(403): Show TGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTG GCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGTCTG GCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGTGTGTGTGTGTGTGTC TGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCCTGGTGCCCGTGTGTG TGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTGTCTGGCTAGCCTGTG TGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTG TGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGTGTGTGTGTCTGGCTA GCCTGGCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	350	0.0029	410	c.26 others(421): Show c.2689_*2690insGCCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGT GTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTGTGT GTGTGTGTGTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATGTGTGT GTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCCC GTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGTGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTGTGTGGGGGGGCTAGCCTTGTGTGTGTGTG TCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGTGTCTGGCTA GCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCCGTGTGTGTGTGTGTGT GTGTGTGTCTGGCTAGCCTGGCACCC	NHLRC4	ENSG00000257108.2	transcript	ENST00000424439.3	protein_coding		1614		chr16	TogoVar
NKD2_chr5_1003802_1043943	1024962	T T	TCTGTGGG others(403): Show TCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGTGTCCCAGCC CGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCC TGCTCTTCCCACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCC CACTCTCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTG TGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCT CAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTT GTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCT CTTCCCACCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0123 a0001c0001t0004g0123	1	275	0.0036	410	c.142 others(427): Show c.142-7108_142-6699dupTCTGTGGGTGTCCCAGCCCGTTGTCCCT GCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCC ACCCGCTGTGGGCGTCCCAGCCCTTTGTCCCTGCTCTTCCCACTCTCTGT GGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCTCTGTGGGCGTCTC AGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTG TCCCTGCTCTTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTC TTCCCACCCGCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC GCTGTGGGCGTCTCAGCCCGTTGTCCCTGCTCTTCCCACCCGCTGTGGGC GTCTCAGCCCGTTGTCCCTGCTCTTCCCACCC	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
NLGN1_chr3_173392744_174299372	174086282	T T	TACATATA others(403): Show TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATTTATGTATGTGCATACATATATATATTTATGTA TGTGCATACATAAATATATTTATGTATGTGCATACATATATATTTATGTA TGTGCATACATATATATATATTTATGTATGTGCATAAATATATATATATA TTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATATA TATATATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATA AATATATATATATATTTATGTATGTGCATAAATATATATATATATTTATG TATGTGCATAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0033	1	30	0.0333	410	c.707 others(431): Show c.707-189032_707-189031insCATATATATATTTATGTATGTGCA TACATATATATATTTATGTATGTGCATACATATATATATTTATGTATGTG CATACATATATATATTTATGTATGTGCATACATATATATATTTATGTATG TGCATACATATATATATTTATGTATGTGCATACATAAATATATTTATGTA TGTGCATACATATATATTTATGTATGTGCATACATATATATATATTTATG TATGTGCATAAATATATATATATATTTATGTATGTGCATAAATATATATA TATTTATGTATGTGCATAAATATATATATATTTATGTATGTGCATAAATA TATATATATTTATGTATGTGCATAAATATATATATATATTTATGTATGTG CATAAATATATATATATATTTATGTATGTGCATAAA	NLGN1	ENSG00000169760.18	transcript	ENST00000695368.1	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(403): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG AGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAA TGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGC AATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01928.hp1 HG01943.hp2 HG00639.hp1 HG01928.hp1 HG01943.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0002 a0002c0010t0002	a0002c0010t0002g0158 a0002c0010t0002g0159 a0002c0010t0002g0162 a0002c0010t0002g0158 a0002c0010t0002g0159 a0002c0010t0002g0162	3	208	0.0144	410	c.140 others(427): Show c.140+8514_140+8515insTGCACCCATTGCCCCGGGAGGGATCCTG AGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGAGG others(403): Show GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGAGCAATGGGTG CAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCA ATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGG CAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0193 a0001c0001t0032g0193	1	206	0.0049	410	c.140 others(427): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGAGGGATCC TGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCTCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535562	G G	GGTGGGTG others(403): Show GGTGGGTGGGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0276 a0001c0001t0007g0276	1	314	0.0032	410	c.140 others(427): Show c.140+8461_140+8462insTCCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCCCCCACCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535607	G G	GGTGCAGG others(403): Show GGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGG GTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAAT GGGTGCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATG GGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAA TGGGTGCATGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAAT GGGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCA ATGGGTGCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CGGGGCAATGA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0074 a0001c0002t0005g0074	1	284	0.0035	410	c.140 others(427): Show c.140+8416_140+8417insTCATTGCCCCGGGAGGGATCCTGAGTGC TCCCCCCTCCACCCACTCCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCCACCCACCATGCACCCATTGCCCCAGGAGGGATC CTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGA TCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTGGGAGGGA TCCTGAGTGCTCCCCTCTCCACCCACCCTGCACCCATTGCCCCGGGAGGG ATCCTGAGTGCTCCCCCCGACCCACCCTGCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(403): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGTGGGGGAGGGAGAG GGGAAAGGGAGAGGGGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGG GAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGG GGAGGGGAAAGGGGGAAGGGAGAAGGGGGAGGGGGAGGGGAAGGGGAGGA AGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAG GGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGG GGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAG AAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 HG02109.hp1 HG02258.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0078 a0001c0008t0079 a0001c0008t0078 a0001c0008t0079	a0001c0008t0078g0251 a0001c0008t0079g0250 a0001c0008t0078g0251 a0001c0008t0079g0250	2	143	0.0140	410	c.154 others(427): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTC CCCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCC TCCTCCCCTCCTCCCCCCCTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(403): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCACCCTCCC CTTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTTC CCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCTCTCCCCTTCCCCTCCCCT CCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTC CCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0026 a0001c0001t0004g0026	1	30	0.0333	410	c.433 others(427): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGAAGGG GAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAG GGGGAGGGGAGGGGAAGGGGGAGGGGAGGGAAGGGGAGGGTGGGAGGGGA GGGGAGGGGAGAGGAGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGAGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664515	T T	TCTCCTCT others(403): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCTCC TCTCCCCTCCCCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCCCTCCCC TCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCC CCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCCCCT TCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCTCTCC TCTCCTCTCCC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	324	0.0031	410	c.433 others(427): Show c.433+1005_433+1006insGGGAGAGGAGAGGAGAGGGGAGGGGAGG GGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGG GAGGGGAGGGGAAGGGGAGAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAA GGGGAGGGGGGGAGGGTGGGAGGGGAGGGGAGAGGAGAGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NWD2_chr4_37239743_37454463	37330838	C C	CCACCAGA others(403): Show CCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAA TCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCC TACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGT ATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTA CAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCAC CAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCAT CACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACT TGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTT CTGTACAATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0084 a0001c0002t0004g0084	1	294	0.0034	410	c.240 others(427): Show c.240+4969_240+4970insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATATCACCAGAATCATCACCCTACTTG AGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331035	G G	GTACAATA others(403): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp1 HG02922.hp2 HG02572.hp1 HG02723.hp1 HG02922.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0010 a0002c0003 a0007c0026 a0001c0010 a0002c0003 a0007c0026	a0001c0010t0002 a0002c0003t0009 a0007c0026t0016 a0001c0010t0002 a0002c0003t0009 a0007c0026t0016	a0001c0010t0002g0062 a0002c0003t0009g0190 a0007c0026t0016g0106 a0001c0010t0002g0062 a0002c0003t0009g0190 a0007c0026t0016g0106	3	283	0.0106	410	c.240 others(427): Show c.240+5092_240+5093insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37331035	G G	GTACAATA others(403): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG03669.hp2 HG02622.hp1 HG02809.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0004 a0001c0004t0001 a0001c0001t0002 a0001c0002t0004 a0001c0004t0001	a0001c0001t0002g0061 a0001c0002t0004g0087 a0001c0004t0001g0060 a0001c0001t0002g0061 a0001c0002t0004g0087 a0001c0004t0001g0060	3	283	0.0106	410	c.240 others(427): Show c.240+5092_240+5093insGTACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT ATACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATCAT others(403): Show CATATCATAATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACATATATC ATAATATATATTATCATATTATGACATATATCATAATATATATTATCATA TTATGACATATATCATAATATATATTATCATATTATGACATATATCATAA TATATAATCATATTATGACATATATCATAATATATAATCATATTATGACA TATATCATAATATATATTATCATATTATGACATATATCATAATATATATT ATCATATTATGACATATATCATAATATATATTATCATATTATGACATATA TCATAATATATATTATCATATTATGACATATATCATAATATATATTATCA TATTATGACAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0255	1	230	0.0043	410	c.116 others(429): Show c.1164+8730_1164+8731insTATCATATTATGACATATATCATAAT ATATATTATCATATTATGACATATATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATAATCATATTATGACATATATCATAATATATAATCAT ATTATGACATATATCATAATATATATTATCATATTATGACATATATCATA ATATATATTATCATATTATGACATATATCATAATATATATTATCATATTA TGACATATATCATAATATATATTATCATATTATGACATATATCATAATAT ATATTATCATATTATGACATATATCATAATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar

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