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
TCF3_chr19_1604292_1657615	1628493	A A	ACGGGGGT others(367): Show ACGGGGGTGGGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG GAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGGTGGGGTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGC GGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGG GTGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	352	0.0028	374	c.299 others(391): Show c.299-1068_299-1067insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTG TCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCCC ACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGC TGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCCCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCG CCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCCCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(367): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAACTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGT GGGGTGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGA CAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGG GGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGTGGGGCGGGAAGGGG ACAGAAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0348 a0001c0001t0036g0348	1	352	0.0028	374	c.299 others(391): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCA TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCCCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGTTCTGCT GTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(367): Show GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCG GGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGG GTGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01070.hp2 NA18989.hp1 others(1): Show HG00642.hp2 HG01070.hp2 NA18989.hp1 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0056 a0002c0002t0016 a0002c0002t0056	a0002c0002t0016g0051 a0002c0002t0016g0052 a0002c0002t0016g0269 others(1): Show a0002c0002t0016g0051 a0002c0002t0016g0052 a0002c0002t0016g0269 a0002c0002t0056g0206	4	352	0.0114	374	c.299 others(391): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGC CCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGC TCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629106	G G	GGGGGTGG others(367): Show GGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGA AGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTC ACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGA AGGGGACAGCAGAACTCACGGGGGTGGGGCGGGAAGGGGACAGCAGAGCT CACGGGGGTGAGGCGGGAAGGGGACAGTAGAGCTCACAGAGGGTGGGGCG GGAAGGGGACAGTAGAGCTCACGGGGGTGGGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGGAGCGGGAAGGGGACAGCAGAGCTCATGGGGATGGG GTGGGAAGGGGACAGCAGAGCTCAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0050 a0002c0002t0016g0050	1	352	0.0028	374	c.299 others(391): Show c.299-1681_299-1680insGTGAGCTCTGCTGTCCCCTTCCCACCCC ATCCCCATGAGCTCTGCTGTCCCCTTCCCGCTCCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCCCACCCCCGTGAGCTCTACTGTCCCCTTCCCGC CCCACCCTCTGTGAGCTCTACTGTCCCCTTCCCGCCTCACCCCCGTGAGC TCTGCTGTCCCCTTCCCGCCCCACCCCCGTGAGTTCTGCTGTCCCCTTCC CGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAG CTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCC CGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TMEM242_chr6_157284025_157328519	157310961	T T	TGGCCTAA others(367): Show TGGCCTAATCATAGTGTCCCAGTGAGCACTCACCTGGCCTAATCATAGTG TCCCAGTGTCCGCTTACCTAGCCTCATCATAGTGGCCCAGTATCCGATCA CCTAGATTCATCATAGTGCCCCAGTGTGTGCTCACCTAGCCTCATCACAG TGTCCCAGTGTGCACTCACCTAGCCTCATCACAGTGCCCCAGTGTGCGCT CACCTAGCCTCATCATAGTGTCCCAGTGTACACACACCTGGCCTCATCAT GGTGTCCCAGTGTGCGCTCACCTAGCCTCATCAGAGTGCCCCAGTGTGCA CTCACCCGGCCTCATCATAGGGTCCCAGTGTGCACTCACCCGGCCTCATC ATAGGGTCCCAGTGTGCACTCACCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG03041.hp2 NA18747.hp2 others(3): Show HG00558.hp2 HG03041.hp2 NA18747.hp2 NA18968.hp1 NA19000.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0031 others(1): Show a0001c0001t0002 a0001c0001t0018 a0001c0001t0031 a0001c0001t0032	a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 others(3): Show a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0018g0272 a0001c0001t0031g0241 a0001c0001t0032g0242	6	344	0.0174	374	c.327 others(391): Show c.327+7820_327+7821insGGGTGAGTGCACACTGGGACCCTATGAT GAGGCCGGGTGAGTGCACACTGGGACCCTATGATGAGGCCGGGTGAGTGC ACACTGGGGCACTCTGATGAGGCTAGGTGAGCGCACACTGGGACACCATG ATGAGGCCAGGTGTGTGTACACTGGGACACTATGATGAGGCTAGGTGAGC GCACACTGGGGCACTGTGATGAGGCTAGGTGAGTGCACACTGGGACACTG TGATGAGGCTAGGTGAGCACACACTGGGGCACTATGATGAATCTAGGTGA TCGGATACTGGGCCACTATGATGAGGCTAGGTAAGCGGACACTGGGACAC TATGATTAGGCCAGGTGAGTGCTCACTGGGACACTATGATTAGGCC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157311692	A A	ACTCACAT others(367): Show ACTCACATGGCCTCATCAAAGTGTCCCAGTGTGCACTCACCTGGCCTCAT AATAGTGCCCCAGTGTGTGCTCAACTACCCTCATCATAGTGTCACAGTGT GCACTCACCCGGCCTCATCATAGTGCCCAAGTGTGCACTTACCTAGCCTC ATCATAGTGTCCCACTGTGCGCTCACCCGGCCTCATCATAGTGTAACAGT GTGCGCTCACCTGGCCTCATCTTAGTGCCCCACTGTGCACTCACCTAGCC TCATCATAGTGCCTCAGTGTGCACTCACATAGCCTCATCATAGTGCCCCA GTATGAGCTCACCTAGCCTCATCATAGTGCCCCAGTCTGCGCACACCTAG CCTCATCATAGTGCCCCAGTGTGCG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01167.hp2 HG01256.hp1 others(11): Show HG00733.hp1 HG01167.hp2 HG01256.hp1 HG01258.hp1 HG01517.hp1 HG02630.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG03540.hp1 HG03654.hp2 NA18906.hp2 NA20300.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0016 a0001c0001t0003g0278 a0001c0001t0003g0279 others(10): Show a0001c0001t0003g0016 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0283 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0304 a0001c0001t0003g0305 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0319 a0001c0001t0003g0320	14	344	0.0407	374	c.327 others(391): Show c.327+7089_327+7090insCGCACACTGGGGCACTATGATGAGGCTA GGTGTGCGCAGACTGGGGCACTATGATGAGGCTAGGTGAGCTCATACTGG GGCACTATGATGAGGCTATGTGAGTGCACACTGAGGCACTATGATGAGGC TAGGTGAGTGCACAGTGGGGCACTAAGATGAGGCCAGGTGAGCGCACACT GTTACACTATGATGAGGCCGGGTGAGCGCACAGTGGGACACTATGATGAG GCTAGGTAAGTGCACACTTGGGCACTATGATGAGGCCGGGTGAGTGCACA CTGTGACACTATGATGAGGGTAGTTGAGCACACACTGGGGCACTATTATG AGGCCAGGTGAGTGCACACTGGGACACTTTGATGAGGCCATGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157312130	G G	GTGCACTC others(367): Show GTGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGCGCACTCACCTAGCC TCATCATAGTATCCCAGGGTGCGCTCATCCAGCCTCATCATAGTGTCGCA GTGTGCACTCACCTAGCCTCATCATAGTGTCCCAGTGTGCAATCACCTAG CCTCATCATAGTGCCGCAGTGTGCGCTCACCTGGCCTCAACATATTGTCC CAGTGTGCGGTCACCTAGCCTCATCATAGTGTGCCAGTGTGCGCTCACCT GGACTCATCATAGTACCGCAGTGTGCACTCACCTGGCCTCATCATAGTGT CCCAGTGTCTGCCCACCGAGCATCATCATAGTGCCCCAGTGTGCGCTCAC CCGGCCTCATCATAGTGCCCCACTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0255 a0001c0001t0015g0255	1	344	0.0029	374	c.327 others(391): Show c.327+6651_327+6652insTAGTGGGGCACTATGATGAGGCCGGGTG AGCGCACACTGGGGCACTATGATGATGCTCGGTGGGCAGACACTGGGACA CTATGATGAGGCCAGGTGAGTGCACACTGCGGTACTATGATGAGTCCAGG TGAGCGCACACTGGCACACTATGATGAGGCTAGGTGACCGCACACTGGGA CAATATGTTGAGGCCAGGTGAGCGCACACTGCGGCACTATGATGAGGCTA GGTGATTGCACACTGGGACACTATGATGAGGCTAGGTGAGTGCACACTGC GACACTATGATGAGGCTGGATGAGCGCACCCTGGGATACTATGATGAGGC TAGGTGAGTGCGCACTGGGACTCTATGATGAGGCTAGCTGAGTGCA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(367): Show TTATATATAAATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATACATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATAT TTATATATAAATATATATTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATATATTTATATATAAATATATATTCTTTTATATAT ATATATAAATATATATTCTTTTATATATTTATATATAAATATATATTCTT TTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAAAT ATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	348	0.0029	374	c.11 others(387): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAGAATATATATTTATATATATATATA AAAGAATATATATTTATATATAAATATATATATAAATATATAAAAGAATA TATATTTATATATAAATATATAAAAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATAAAAGAATATATATTTATATA TAAATATATAAAAGAATATATATGTATATATAAATATATAAAAGAATATA TATGTATATATAAATATATAAAAGAATATATATTTATATATA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TOLLIP_chr11_1269371_1314632	1287619	G G	GCCTCCCC others(367): Show GCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCACCCTCCCC GCCGCAGCCTCCCCGCCGCACCCGCCGCAGCCTCCCCGCCGCACCCTCCC CGCCGCAGCCTCCCCGCCGCACCCTCCCCGCCGCAGCCTCACCGCCGCAC CCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCCGCCGCAGCCTCCCC GCCGCACCCTCTCTGCCGCAGCCTCCCCGCCGCACCCTCTCTGCCGCAGC CTCCCCGCCGCACCCTCCCCGCCGCAGCCTCCCCGCCGCACCCTCCCCGC CGCAGCCTCCCCGCCGCACCCTCTCCGCCGCAGCCTCCCCGCCGCACCCT CTCCGCCGCAGCCTCCCCGCCGCAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0314 a0001c0001t0004g0314	1	348	0.0029	374	c.519 others(391): Show c.519+1004_519+1005insGTGCGGCGGGGAGGCTGCGGCGGAGAGG GTGCGGCGGGGAGGCTGCGGCGGAGAGGGTGCGGCGGGGAGGCTGCGGCG GGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCT GCGGCAGAGAGGGTGCGGCGGGGAGGCTGCGGCAGAGAGGGTGCGGCGGG GAGGCTGCGGCGGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGGGTG CGGCGGTGAGGCTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGG AGGGTGCGGCGGGGAGGCTGCGGCGGGTGCGGCGGGGAGGCTGCGGCGGG GAGGGTGCGGCGGGGAGGGTGCGGCGGGGAGGCTGCGGCGGGGAGG	TOLLIP	ENSG00000078902.16	transcript	ENST00000317204.11	protein_coding	4/5			chr11	TogoVar
TOR4A_chr9_137272726_137287641	137273768	A A	AATAATTT others(367): Show AATAATTTCTGGGGGAGGATGATATAATTTCTGGGGGAGGTTGATGTAAT TTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGATATAATAATTTCTGG GGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGG ATGATATAATAATTTCTGGGGGAAGTTGATATAATTTCTGGGGGAGGTTG ATGTAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGATATAATTT CTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGG GAGGATATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTT GATGTAATTTCTGGGGGAGGTTGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0001 a0001c0001t0016g0001	1	408	0.0025	374	c.-41 others(385): Show c.-4177_-4176insATAATTTCTGGGGGAGGATGATATAATTTCTGGG GGAGGTTGATGTAATTTCTGGGGGAGGTTGATAAAATTTCTGGGGGAGGA TATAATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTGATAT AATTTCTGGGGGAGGATGATATAATAATTTCTGGGGGAAGTTGATATAAT TTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGATATAATTTCTGG GGGAGGATATAATTTCTGGGGGAGGTTGATATAATTTCTGGGGGAGGTTG ATATAATTTCTGGGGGAGGATATAATAATTTCTGGGGGAGGTTGATATAA TTTCTGGGGGAGGTTGATGTAATTTCTGGGGGAGGTTGAT	TOR4A	ENSG00000198113.3	transcript	ENST00000357503.3	protein_coding		3957		chr9	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(367): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATATATTATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATACTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAG TATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATA TAATATAGTATATTATATTATATAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	118	0.0085	374	c.44- others(391): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA GTATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATAATATATATTATATACTATATAATATAATATACTATATT ATATACTATATAATATAATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(367): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAAT ATAGTATATTATATTATATAGTATATAATATATATTATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAG TATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATA TAATATAGTATATTATATTATATAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03195.hp1 HG03225.hp2 HG01109.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082	3	118	0.0254	374	c.44- others(391): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATAATATATATTATATACTATATAATATAATATACTATATT ATATACTATATAATATAATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TPK1_chr7_144446941_144841053	144780581	T T	TTATATTA others(367): Show TTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATATATTATATAGTATATAATATAGTATATTAT ATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAG TATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATA TAATATAGTATATTATATTATATAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	118	0.0085	374	c.44- others(391): Show c.44-14631_44-14630insCTATATAATATAATATACTATATTATAT ACTATATAATATAATATACTATATTATATACTATATAATATAATATACTA TATTATATACTATATAATATAATATACTATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATTATATACTATATAATATATATTATATACTATATAATATA ATATACTATATAATATAATATACTATATTATATACTATATAATATA	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(367): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATTATAT ATATATAAAAATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	374	c.28 others(385): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATTATATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TRIM58_chr1_247852187_247885138	247871036	A A	AGTATATT others(367): Show AGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCTGCAC CACCACACCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAG TCACGGCCACCCATAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATT AGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTAGAGCCTGCAC CACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATCAGAG TCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGGATT AGTATATTCATGAGCAGTATCAGAGTCACGGCCACCGTAGAGCCTGCACC ACCACGCCCAGAAGAACGAGGATTC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG03225.hp1 HG01256.hp1 HG03225.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0059 a0002c0025t0060 a0002c0025t0059 a0002c0025t0060	a0002c0025t0059g0218 a0002c0025t0060g0213 a0002c0025t0059g0218 a0002c0025t0060g0213	2	454	0.0044	374	c.871 others(391): Show c.871+3015_871+3016insCCTGCACCACCACACCCAGAAGAACGAG GATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAGCCT GCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATC AGAGTCACGGCCACCCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAG GATTAGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCGTAGAGCCT GCACCACCACGCCCAGAAGAACGAGGATTAGTATATTCATGAGCAGTATC AGAGTCACGGCCACCGTAGAGCCTGCACCACCACGCCCAGAAGAACGAGG ATTCGTATATTCATGAGCAGTATCAGAGTCACGGCCACCCATAGAG	TRIM58	ENSG00000162722.9	transcript	ENST00000366481.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TSNARE1_chr8_142207080_142408182	142261001	T T	TGTGGGGA others(367): Show TGTGGGGAGGGAGGAGAGAGGGAGGAGAGAGACAGGAGGGAGGAAGGGAG GAGGGGAAGCAGGAGGGAAGGAGAAAAGAGGGAGGAGGAGGGAGGGTGAG GGAGGGGAGAGGGAGGGAGGGAGGAGAGAGGGAGGAAGGGAGGAGGGAAG CAGGAGGGAGGGAGGAGAGGAAGAAGGAGGAGGGAGGCAGCAGAAAGGGA GGTAGGAGGAAAGGAGGAGAGAGGGAGAAGGGAGGGAGGAGACAGGGAGG GAGAGAGGGAGGGAGGAAGAAGGGAAGGAGGAGAGAGGGAAGAGGGAGGA GAGAAGGAGGAGGGAGGAAGGAAAGAGGGAGGGAGAAAGGTAGGAGGACG GGAGGAGAGAGGGAGGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0016 a0016	a0016c0021 a0016c0021	a0016c0021t0002 a0016c0021t0002	a0016c0021t0002g0026 a0016c0021t0002g0026	1	238	0.0042	374	c.144 others(395): Show c.1446+13779_1446+13780insTCCCTCCTCCCTCCCTCTCTCCTC CCGTCCTCCTACCTTTCTCCCTCCCTCTTTCCTTCCTCCCTCCTCCTTCT CTCCTCCCTCTTCCCTCTCTCCTCCTTCCCTTCTTCCTCCCTCCCTCTCT CCCTCCCTGTCTCCTCCCTCCCTTCTCCCTCTCTCCTCCTTTCCTCCTAC CTCCCTTTCTGCTGCCTCCCTCCTCCTTCTTCCTCTCCTCCCTCCCTCCT GCTTCCCTCCTCCCTTCCTCCCTCTCTCCTCCCTCCCTCCCTCTCCCCTC CCTCACCCTCCCTCCTCCTCCCTCTTTTCTCCTTCCCTCCTGCTTCCCCT CCTCCCTTCCTCCCTCCTGTCTCTCTCCTCCCTCTCTCCTCCCTCCCCAC	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	12/13			chr8	TogoVar
TUBGCP3_chr13_112480011_112593153	112539838	G G	GCAGTAGC others(367): Show GCAGTAGCCTATGAGCATTCAGATGGTCTTGGGAAAGGATACCTGGGAAT GATGACATCAATGTAGTAGCCTATGAGCCTTCAGGTGGTCTTGGGAAAGG ACACCTGGGAATGAGGACGTCAATGTAGTAGCCCTATGAGCATTCAGATG ATCTTGGGAAAGGACACCTGGGAATGAGGATGTCAATATAGTAGCCTATG AGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTGATGACGTCAATG TAGTAGCCTATGAGCATTCAGGTGGTCTTGGGAAAGGATACCTGGGAGTG ATGACGTCAATGTAGTAGCCCTATGAGCATTCAGATGATCTTGGGAAAGG ACACCTGGGAATGAGGATGTCAATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02970.hp1 HG03098.hp1 HG01243.hp1 HG02970.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0011g0266 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0011g0266	3	312	0.0096	374	c.133 others(393): Show c.1335+5860_1335+5861insTATTGACATCCTCATTCCCAGGTGTC CTTTCCCAAGATCATCTGAATGCTCATAGGGCTACTACATTGACGTCATC ACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTCATAGGCTACTAC ATTGACGTCATCACTCCCAGGTATCCTTTCCCAAGACCACCTGAATGCTC ATAGGCTACTATATTGACATCCTCATTCCCAGGTGTCCTTTCCCAAGATC ATCTGAATGCTCATAGGGCTACTACATTGACGTCCTCATTCCCAGGTGTC CTTTCCCAAGACCACCTGAAGGCTCATAGGCTACTACATTGATGTCATCA TTCCCAGGTATCCTTTCCCAAGACCATCTGAATGCTCATAGGCTACTG	TUBGCP3	ENSG00000126216.15	transcript	ENST00000261965.8	protein_coding	11/21			chr13	TogoVar
ULK1_chr12_131889622_131928150	131917306	G G	GTTCGGCT others(367): Show GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGCTT GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGG CTCGGAGGCTGTGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGCTCGAGGCTGTGGGACGGGGGTC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0279 a0001c0002t0002g0279	1	344	0.0029	374	c.218 others(391): Show c.2183-105_2183-104insTTCGGCTCGGAGGCTGTGGGATGGGGGT CGGAGGCTGTGGGATGGGCTTGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGA CGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGATGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTC	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
UNC13C_chr15_53973441_54633605	54553135	A A	ACTGTATT others(367): Show ACTGTATTCTATATTACAATATATAATATATACTGTATTCTATATTACAA TATATATTATATACTGTATTCTATATTACAATATATATTATATACTGTAT TCTATATTACAATATATAATATATATTGTATTCTATATTACAATATATAT TATATATTGTATTCTATATTACAATATATATTATATATTGTATTCTATAT TACAATATATATTATATATTGTATTCTATATTACAATATATATTATATAT TGTATTCTATATTACAATATATATTATATATTGTATTCTATATTACAATA TATATTATATATTGTATTCTATATTACAATATATATTATATATTGTATTC TATATTACAATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02132.hp1 HG01192.hp2 HG02132.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0015 a0001c0012 a0002c0015	a0001c0012t0017 a0002c0015t0012 a0001c0012t0017 a0002c0015t0012	a0001c0012t0017g0109 a0002c0015t0012g0054 a0001c0012t0017g0109 a0002c0015t0012g0054	2	158	0.0127	374	c.587 others(393): Show c.5878-2297_5878-2296insCTGTATTCTATATTACAATATATAAT ATATACTGTATTCTATATTACAATATATATTATATACTGTATTCTATATT ACAATATATATTATATACTGTATTCTATATTACAATATATAATATATATT GTATTCTATATTACAATATATATTATATATTGTATTCTATATTACAATAT ATATTATATATTGTATTCTATATTACAATATATATTATATATTGTATTCT ATATTACAATATATATTATATATTGTATTCTATATTACAATATATATTAT ATATTGTATTCTATATTACAATATATATTATATATTGTATTCTATATTAC AATATATATTATATATTGTATTCTATATTACAATATATATTATATATT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	28/32			chr15	TogoVar
VCX2_chrX_8164944_8176267	8169466	T T	TTCCTCCT others(367): Show TTCCTCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCTCCCAC ACACCTCTTCCTCCCTCCCTCCCTCCCACACACACCACCTCTTCCTCCTC CCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCCACACA CCTCTTCCTCCCTCCCTCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCCACACACCTCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	115	0.0087	374	c.56 others(383): Show c.565_*566insGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAGGAAGA GGTGGTGTGTGTGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGAGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGAGGA	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		477		chrX	TogoVar
VCX3A_chrX_6528618_6540118	6533091	T T	TCCTCCCT others(367): Show TCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCTCCCCA CACACCTCTTCCTTCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCT CCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCT TCCCCCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCTCCCTCCC CACACACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTC CCTCCCCACACACCACCTCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0008 a0002c0003t0001g0008	1	74	0.0135	374	c.65 others(383): Show c.653_*654insGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGAAGGAAGAGGTGTGTGGGGAGGGAG GGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG	VCX3A	ENSG00000169059.13	transcript	ENST00000381089.7	protein_coding		526		chrX	TogoVar
VPS53_chr17_503668_719839	598880	G G	GCCCCCCA others(367): Show GCCCCCCACCAGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCATGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCACCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCG TCTTGGAGGGAGGTGGGGGGGTCAGCCCCACGCCCGGCCAGGCGCCCCGT CCGGGAGGGAGGTGGGGGGGGTCAGCCCCTCGCCCAGCCAGCCGCCCCGT CCGGGAGGGAGGTGGGGGGTCAGCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0108	a0001c0001t0108g0148 a0001c0001t0108g0148	1	232	0.0043	374	c.121 others(393): Show c.1218+2914_1218+2915insGGCTGACCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCGAGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGCCTGGCCGGGCGTGGGGCTGACCCCCCCACCTCCCTCCAAGAC GGGGCGGCTGGCCGGGCAGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGTGGGGGG CTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCATGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCTGGTGGGGGG	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	12/21			chr17	TogoVar
YTHDF3_chr8_63163621_63217786	63213950	A A	ACAGTATT others(367): Show ACAGTATTAGATATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	374	0.0027	374	c.42 others(385): Show c.4244_*4245insCAGTATTAGATATTTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGT GGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	YTHDF3	ENSG00000185728.17	transcript	ENST00000539294.6	protein_coding		1165		chr8	TogoVar
ZDHHC20_chr13_21367571_21464303	21377576	A A	ACGTGACC others(367): Show ACGTGACCTCCACCCCTAGTGCCTGTGATCTGACTGCCCGACGTGACCTC CACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGACCTCCACCCCTA GTGCCTGTGATCTGACTCTGCCCGACATGACCTCCACCCCTAGTGCCTGT GATCTGACTCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGTGATCTGAC TCTGCCCTGCGTGACCTCCACCCCTAGTGCCTGTGATCTGACTCTGCCCT GCGTGACCTCCACCCCTAGTGCCTGCGATCTGACTCTGCCCTGCGTGACC TCCACCCCTAGTGCCTGCGATCTGACTGCCCGACGTGACCTCCACCCCTA GTGCCTGTGATCTGACTCTGCCCTG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0030 a0001c0001t0009g0030	1	302	0.0033	374	c.41 others(389): Show c.41-922_*41-921insCAGGGCAGAGTCAGATCACAGGCACTAGGG GTGGAGGTCACGTCGGGCAGTCAGATCGCAGGCACTAGGGGTGGAGGTCA CGCAGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGTCACGCAGGGC AGAGTCAGATCACAGGCACTAGGGGTGGAGGTCACGCAGGGCAGAGTCAG ATCACAGGCACTAGGGGTGGAGGTCACGCAGGGCAGAGTCAGATCACAGG CACTAGGGGTGGAGGTCATGTCGGGCAGAGTCAGATCACAGGCACTAGGG GTGGAGGTCACGCAGGGCAGAGTCAGATCGCAGGCACTAGGGGTGGAGGT CACGTCGGGCAGTCAGATCACAGGCACTAGGGGTGGAGGTCACG	ZDHHC20	ENSG00000180776.17	transcript	ENST00000400590.8	protein_coding	12/12			chr13	TogoVar
ZNF30_chr19_34921903_34950168	34923077	A A	ATATATAA others(367): Show ATATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTATGTTATATTGTATATAACATAACTT GTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAA CATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATT GTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTAT GTTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAA CTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATA TAACATAACTTGTTATGTTATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0073 a0003c0003t0002g0073	1	412	0.0024	374	c.-42 others(385): Show c.-4204_-4203insTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTATGTTATATTG TATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATG TTATATTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAAC TTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATATTGTATAT AACATAACTTGTTATGTTATATTGTATATAACATAACTTGTTATGTTATA TTGTATATAACATAACTTGTTATGTTATATTGTATATAACATAACTTGTT ATGTTATATTGTATATAACATAACTTGTTATGTTATATTG	ZNF30	ENSG00000168661.15	transcript	ENST00000601142.2	protein_coding		3825		chr19	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(367): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATACATCATATATCACA CATATGATATACATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATATATCACACATATGATATATATCATATATCACA CATATGATATATATCATACATATCACATATATCATATATATCATACATAT CACATATATGATATATATCATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01978.hp1 HG01993.hp1 HG01192.hp1 HG01978.hp1 HG01993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	3	350	0.0086	374	c.-36 others(385): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ACATCATATATCACACATATGATATACATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATATATCACACATATGATAT ATATCATATATCACACATATGATATATATCATACATATCACATATATCAT ATATATCATACATATCACATATATGATATATATCATATAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370782	C C	CATCATAT others(367): Show CATCATATACATCATATACATCATATATGATATATACATCATATATCACA CATATGATATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATACATCATATATCACACATATGATATACATCATATATCA CACATATGATATATATCATATATCACACATATGATATATATCATATATCA CACATATGATATATATCATATATCACATATATCATATATATCATACATAT CACATATATCATATATATCATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0006 a0002c0002t0001g0006	1	350	0.0029	374	c.-36 others(385): Show c.-3690_-3689insATCATATACATCATATACATCATATATGATATAT ACATCATATATCACACATATGATATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATACATCATATATCACACATATGAT ATACATCATATATCACACATATGATATATATCATATATCACACATATGAT ATATATCATATATCACACATATGATATATATCATATATCACATATATCAT ATATATCATACATATCACATATATCATATATATCATACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3586		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62370978	C C	CATATGTG others(367): Show CATATGTGATATATATGGTATATATGATATATATCATATATATCATATGT GATATATATGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATACATATGACATATATCATATGTGATACATATGACATAT ATCATATGTGATATATGTCACATATATCATATGTGATATATGTCACATAT ATCACATGTGATATATGTCACATATATCACATGTGATATATGTCATATAT ATCATATGTGATATATATCATATATATCATATATGATATATATCATATAT ATCATATATATGATATATATCATATATCATATATATGATATATATCATAT ATCATATATATGATATATATCACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	350	0.0029	374	c.-34 others(385): Show c.-3494_-3493insATATGTGATATATATGGTATATATGATATATATC ATATATATCATATGTGATATATATGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATACATATGACATATATCATATGTG ATACATATGACATATATCATATGTGATATATGTCACATATATCATATGTG ATATATGTCACATATATCACATGTGATATATGTCACATATATCACATGTG ATATATGTCATATATATCATATGTGATATATATCATATATATCATATATG ATATATATCATATATATCATATATATGATATATATCATATATCATATATA TGATATATATCATATATCATATATATGATATATATCACAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3390		chr10	TogoVar
ZNF365_chr10_62369369_62407450	62371309	C C	CATATATA others(367): Show CATATATATATCATATATATGATATATATCTCATATATATATCATATATA TGATATATATCTCATATATATATCATATATATGATATATATCTCATATAT ATATCATATATATGATATATATCTCATATATATATCATATATATGATATA TATCTCATATATATATCATATATATGATATATATCTCATATATATATCAT ATATATGATATATATCTCATATATATATCATATATATGATATATATCTCA TATATATATCATATATATGATATATATCTCATATATATATCATATATATG ATATATATCTCATATATATATCATATATATGATATATATCTCATATATCT ATCATATATATGATATATATCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	350	0.0029	374	c.-31 others(385): Show c.-3163_-3162insATATATATATCATATATATGATATATATCTCATA TATATATCATATATATGATATATATCTCATATATATATCATATATATGAT ATATATCTCATATATATATCATATATATGATATATATCTCATATATATAT CATATATATGATATATATCTCATATATATATCATATATATGATATATATC TCATATATATATCATATATATGATATATATCTCATATATATATCATATAT ATGATATATATCTCATATATATATCATATATATGATATATATCTCATATA TATATCATATATATGATATATATCTCATATATATATCATATATATGATAT ATATCTCATATATCTATCATATATATGATATATATCTCAT	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3059		chr10	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(368): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0199 a0001c0001t0014g0199	1	249	0.0040	375	c.49- others(390): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCCTTCTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1117434	T T	TTCTCCCC others(368): Show TTCTCCCCAGCTTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCG TTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTTCT CCCCAGCTTTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCC TGAGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTTCTCCCCAGCTTTATC CCTGAGCCTGAGTTCTCCCCAGCTTTATCCCTGAGCCTGAGTCCTCCCAG CGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTC CTCCCAGCGTTATCCCTGAGCCTGAG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0336 a0001c0002t0092g0336	1	337	0.0030	375	c.246 others(392): Show c.246+7748_246+7749insCTCAGGCTCAGGGATAACGCTGGGAGGA CTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCT GGGAGGACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCAGGCTCAGGGA TAAAGCTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCAGG CTCAGGGATAAAGCTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGGAG AACTCAGGCTCAGGGATAAAGCTGGGGAGAACTCAGGCTCAGGGATAACG CTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCA GGGATAACGCTGGGGAGAACTCAGGCTCAGGGATAAAGCTGGGGAGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(368): Show TTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTCTCCTTCTCCTTCTCCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTCCTTCTTCCTTCT TCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCCTCCTCCTCCTCCTCCTCCTCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	188	0.0053	375	c.-1- others(390): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAA GGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ALLC_chr2_3653200_3707671	3690284	C C	CCCCCTCC others(368): Show CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCCCCTC CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCTCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCTCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0243 a0002c0005t0001g0243	1	274	0.0037	375	c.512 others(392): Show c.512-5424_512-5423insCTCCCCTCCCCCTCCCCTCCCCCCTCCC CCTCCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCGTCCCCCCCCTCCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCTCCTC CCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP1_chr8_130047104_130448674	130049235	A A	AGGGGAAC others(368): Show AGGGGAACACATGGAGGGCAGAGGGGAACACATGGAGGGCAGAGGGGAAC ACATGGAGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGG GCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAG AACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAG AGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	308	0.0033	375	c.54 others(386): Show c.5495_*5496insCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCC TCTGCCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTC CATGTGTTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTG CCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCTCTGCCCTCCATG TGTTCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCCT CTGCCCTCCATGTGTTCCCCTCTGCCCTCCATGTGTTCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2868		chr8	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(368): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATGAATATATATATCATATATGATATATATGATAT ATATATCATATATTATATATGATATATATATCATATATGATATATATGAA TATATATTCATATATGATATATATGAATATATATATCATATATGATATAT ATGAATATATATATCATATATGATATATATTCATATATATCATATATGAT ATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0014 a0002c0001t0014	a0002c0001t0014g0144 a0002c0001t0014g0144	1	356	0.0028	375	c.924 others(392): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATCATATATGATATATATATTCATAT ATATCATATATGATATATATATTCATATATATCATATATGAATATATATT CATATATATCATATATGATATATATATCATATATAATATATGATATATAT ATCATATATATCATATATGATATATATATTCATATATATCATATATGATA TATATATTCATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATATTCATATATATCATATATGATATATATATTCATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATAT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(368): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCC ACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCC ACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCCACCCC CCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	254	0.0039	375	c.39+ others(392): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACC CACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCC CACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCAC CTCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCC CCACCCCCCACCTCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACC TCCCCCCACCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(368): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	186	0.0054	375	c.565 others(394): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCT CCCCTCCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCC CTCCCCTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCT CCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCC TGTCCCCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCC TACCCTTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTC CCCTCCCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
CAMKK2_chr12_121232692_121301709	121255314	T T	TTATATAT others(368): Show TTATATATATAATTATATATATATAATTATATATTTTTATATATATAATT ATATATATAATTTTATATATATATAATTATATATAATTATATATATATAA TTATATATATTATATATATAATTATATATATATATTATATATATAATTTT ATATATATATAATTATATATATAATTTTATATATATAATTATATATATAT AAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATAT ATATAATTATATATATAATTTTATATATATAATTATATATATATAATTTT ATATATATATAATTATATATATAAAATTATATATATAATTATATATATAT AAAATTTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	330	0.0030	375	c.907 others(390): Show c.907+235_907+236insTATATATATATATATATATAAATTTTATAT ATATATAATTATATATATAATTTTATATATATAATTATATATATATAAAA TTATATATATATAATTATATATATAAAATTATATATATAATTATATATAT AAAATTATATATATAATTTTATATATAAAATTATATATATAATTTTATAT ATATATAATTATATATATAAAATTATATATATAATTATATATATATAAAA TTATATATATAATATATATATATAATTATATATATAATATATATAATTAT ATATATATAATTATATATAATTATATATATATAAAATTATATATATAATT ATATATATAAAAATATATAATTATATATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKMT_chr2_44356947_44777592	44398228	A A	ACTATTCT others(368): Show ACTATTCTACTTTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTT TGTATTTTTAGTAGAGACGGGGTTTCCCCGTTTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	198	0.0051	375	c.376 others(392): Show c.376+7942_376+7943insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCCCCGTTTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTATTCTACTTTATTTCTT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CAPN15_chr16_522712_559636	544825	C C	CCTCCCCC others(368): Show CCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCC CCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCC CACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCA CGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACGTCGCCTC CCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGTCGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	410	0.0024	375	c.-22 others(392): Show c.-22-1985_-22-1984insCACGTCGCCTCCCCCCACGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCC ACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGT CGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCTCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCC CCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(368): Show GGGGAGAGGGAGAGGGAGAGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGAGAACGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGAGGG GAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGAG AGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGG AGACGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	386	0.0026	375	c.803 others(390): Show c.803-101_803-100insAGACGGGGAGAGGGAGAGGGAGACGGGGAG AGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGG AGAGGGAGAGGGAGACGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGA GGGAGAGGAGAACGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGAGAGGGAGAGGGG AGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGGCGGGAGA GGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGA GACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC63_chr12_110841987_110912535	110905955	T T	TATATAAT others(368): Show TATATAATATATATTATATTATATAATATATAATTATATAATATATAATT ATATAAAATATATATTATATTATATATAAAATATATTATATAAAATATAT ATTATATTATATATAATATATATTATAAAATATATATTATATTATATATA ATATATATTATATAAAATATATATTATATTATATAATATATATTATATAA AATATATATTATATTATATATAATATATATTTTATAAAATATATATTATA TTATATAATATATATTTTATAAAATTTATATTATATATAATATATATTAT ATAAAATATATATTATATTATATAAAATATATATTATATTATATAATATA TATTATATAAAATATATATTATATTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0186 a0002c0003t0001g0186	1	288	0.0035	375	c.154 others(394): Show c.1546+1164_1546+1165insATATAATATATATTATATTATATAAT ATATAATTATATAATATATAATTATATAAAATATATATTATATTATATAT AAAATATATTATATAAAATATATATTATATTATATATAATATATATTATA AAATATATATTATATTATATATAATATATATTATATAAAATATATATTAT ATTATATAATATATATTATATAAAATATATATTATATTATATATAATATA TATTTTATAAAATATATATTATATTATATAATATATATTTTATAAAATTT ATATTATATATAATATATATTATATAAAATATATATTATATTATATAAAA TATATATTATATTATATAATATATATTATATAAAATATATATTATATTA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11			chr12	TogoVar
CDH15_chr16_89166748_89200492	89182172	C C	CCCTCCCC others(368): Show CCCTCCCCAAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTC CCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCTCCCA GCCTGCCCTCCCCCAGCCTGCCCTCTCCCAGCCTGCCCTCCCCCAGCCTG CCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTC CCCCAGCCTGCCCTCTCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCA GCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCAAGCCTC CCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTC TCCCAGCCTGCCCTCTCCCAGCCTGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0111 a0002c0004t0004g0111	1	406	0.0025	375	c.358 others(392): Show c.358-1369_358-1368insAAGCCTCCCCTCCCCCAGCCTGCCCTCC CCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAG CCTGCCCTCTCCCAGCCTGCCCTCCCCCAGCCTGCCCTCTCCCAGCCTGC CCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCC CCCAGCCTGCCCTCCCCCAGCCTGCCCTCTCCCAGCCTGCCCTCCCCCAG CCTGCCCTCCCCCAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGC CCTCCCCAAGCCTCCCCTCCCCCAGCCTGCCCTCCCCCAGCCTGCCCTCC CCCAGCCTGCCCTCTCCCAGCCTGCCCTCTCCCAGCCTGTCCTCCCC	CDH15	ENSG00000129910.8	transcript	ENST00000289746.3	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(368): Show ATAGAATATATATATAGAATATATATATATAGAATATATATATATAGAAT ATATATATATAGAATATATATATATAGAATATATATATATAGAATATATA TATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAA TATATATATAGAATATATATATATAGAATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATATATATATAGAATATATATATATAGA ATATATATATATAGAATATATATATATAGAATATATATATATAGAATATA TATATATAGAATATATATATATAGAATATATATATATAGAATATATATAT ATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	388	0.0026	375	c.487 others(392): Show c.487+1101_487+1102insTAGAATATATATATAGAATATATATATA TAGAATATATATATATAGAATATATATATATAGAATATATATATATAGAA TATATATATATAGAATATATATATAGAATATATATATATAGAATATATAT ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATAT	CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8			chr5	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(368): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGA AAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAA GAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGA AAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAGAAAGA AAGAGAAAGAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	258	0.0039	375	c.403 others(390): Show c.403-623_403-622insCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTTTCTCTTTCTCTTTCTT TCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTT TCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTT TTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTC TTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTCTTTCTT TCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTT	CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5			chr22	TogoVar
CFAP46_chr10_132803392_132947570	132820781	G G	GCGTGCTG others(368): Show GCGTGCTGTGTGAGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGAG TGCTGATGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCACTGATGTG TGCTGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGATGTGTGCTGTGTGT GCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGTGTGTGCGCTGATGT GTGCTGTGTGAGCACTGATGTGTGCTGTGTGTGCTGATGTGTGCTGAGTG CTGATGTGTGCTGTGAGTGCTGATGTGTGCTGTGTGTGCACTGATGTGTG CTGTGTGTGCTGATGTGTACTGTGTGTGCACTGATGTGTGCTGTGTGTGC TGATGTGTGCTGTGTGTGCGCTGATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0006 a0006	a0006c0004 a0006c0004	a0006c0004t0002 a0006c0004t0002	a0006c0004t0002g0111 a0006c0004t0002g0111	1	246	0.0041	375	c.711 others(394): Show c.7118-5868_7118-5867insTATCAGCGCACACACAGCACACATCA GCACACACAGCACACATCAGTGCACACACAGTACACATCAGCACACACAG CACACATCAGTGCACACACAGCACACATCAGCACTCACAGCACACATCAG CACTCAGCACACATCAGCACACACAGCACACATCAGTGCTCACACAGCAC ACATCAGCGCACACACAGCACACATCAGCACACACAGCACACATCAGTGC ACACACAGCACACATCAGCGCACACACAGCACACATCAGCACACACAGCA CACATCAGTGCACACACAGCACACATCAGCACTCACAGCACACATCAGCA CTCAGCACACATCAGCACACACAGCACACATCAGTGCTCACACAGCACG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(368): Show GGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGG GAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGG GAGGGGAAGGGAAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGG AGGGGGACTGGAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGG ACTGGAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGAT GGGAGGGGAAGGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGG GGAAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAG GGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0293 a0001c0004t0001g0293	1	308	0.0033	375	c.637 others(390): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTT CCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCC CCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCC CTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCC CTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTTCCCTTCCCCTCCCCC TGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCT CCCCCTGCCCTCCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586399	G G	GGAGGGGA others(368): Show GGAGGGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGG CAGGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGG GAGGGCAGGGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGGACTG GAGGGGAGGGGACGGGAGGGGGGAGGGGGAGGGGAGGGGGACTGGAGGGG AGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAA GGGGAGGAGAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAG GGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGAAGGGAAGGGGAGGGGAG GGGAGGGGAAGGGGAGGGGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0225 a0001c0005t0001g0225	1	308	0.0033	375	c.637 others(390): Show c.637+145_637+146insTTCCCCTCCCCTCCCCTTCCCCTCCCCTCC CCTCCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTC CCTTCCCCTTCCCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCC CCTCCCATCCCCTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCC TCCAGTCCCCCTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGT CCCCCCTCCCCCTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCT TCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCCTGCCCT CCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCCTCCCCTC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(368): Show GGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTC GCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0208 a0002c0003t0002g0208	1	342	0.0029	375	c.844 others(392): Show c.844-1092_844-1091insAGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTG GCCGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGG GGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COG3_chr13_45459939_45541701	45485402	G G	GGAGGGCT others(368): Show GGAGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTG GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGGCAGAGGCGCCCCTC GCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCAGGGGGCTGACCCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0224 a0002c0007t0002g0224	1	342	0.0029	375	c.844 others(392): Show c.844-1092_844-1091insAGGGCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCG GACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTG GCCGGGCAGAGGCGCCCCTCGCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCAGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGG GGGGCTGACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar

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