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
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(707): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGT GGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCT GGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGG GAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0188 a0002c0002t0010g0188	1	303	0.0033	714	c.189 others(729): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTG GGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747510	G G	GTCTGGGG others(707): Show GTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACT GGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAG GTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCT GGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGA AGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGG CTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTA GAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGA GGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTA GAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGA GGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGG TAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGG TAGAAGGTGGGAGGC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0048 a0002c0002t0048	a0002c0002t0048g0089 a0002c0002t0048g0089	1	303	0.0033	714	c.189 others(729): Show c.189-816_189-815insTCTGGGGTAGAAGGCGGGAGGCACTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGG CGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGTCTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(707): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGT TCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAG GGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGG TGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCA CAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGA GTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGG GCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAG AGGGGGTGGGTGGGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTG GGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCT CACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGG GGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGT GGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCAC AGAGGGGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	389	0.0026	714	c.305 others(729): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAA CCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCA CCCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCT GTGAACCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCC ACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTC CCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCTCTGTG AACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACC CACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCT CTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAAC CCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCAC TCCCTCTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMEM242_chr6_157284025_157328519	157311612	G G	GTCCCAGT others(707): Show GTCCCAGTGTGCACTCAGCTAGCCTCATCATAGAGTCCCAGTGCGCACTC ACCTAGCCTCATCATAGTGTCCCAGGGTGCGCTCATCCAGCCTCATCATA GTGTCGCAGTGTGCACTCACCTAGACTCATCATAGTGTCCCAGTGTGCAA TCACCTAGCCTCATCATAGTGCCGCAGTGTGCGCTCACCTGGCCTCAACA TACTGTCCCAGTGTGCGGTCACCTAGCCTCATCATAGTGTCCCAGTGTGC GCTCACCTGGACTCATCATAGTACCGCAGTGTGCACTCACCTGGCCTCAT CATAGTGTCCCAGTGTCCGCTCACCGAGCATCATCATAGGGCCCCAGTGT GCGCTCACCCGGCCTCATCATAGTGCCCCACTATGCCCTCACCGGGCCTC ATGATAGTGTCCCAGTGTGCACTCACCTGGCCTGATCATAGTGTCGCAGT GTGCATTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGGC TCAACATAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCACA GTGTGCCCTCAGCCGGCCTCATCATAGTGTCCCAGTGTGCGCTCACCCGG CCTCATAACAGTGCCCCAGTGTGCGCTCACCTGGCCTCGTCATAGTGTCC CACTGTGCATTCACCTGGCCTCATCATAGTGTCCCAGTGTGCATTCATCT GGCCTCATCATAGTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp2 HG03195.hp2 others(3): Show HG02717.hp1 HG02922.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 others(3): Show a0001c0001t0005g0070 a0001c0001t0007g0068 a0001c0001t0007g0069 a0001c0001t0007g0071 a0001c0001t0007g0072 a0001c0001t0007g0073	6	341	0.0176	714	c.327 others(731): Show c.327+7169_327+7170insAACTATGATGAGGCCAGATGAATGCACA CTGGGACACTATGATGAGGCCAGGTGAATGCACAGTGGGACACTATGACG AGGCCAGGTGAGCGCACACTGGGGCACTGTTATGAGGCCGGGTGAGCGCA CACTGGGACACTATGATGAGGCCGGCTGAGGGCACACTGTGACACTATGA TGAGGCTAGGTGAGCGCACACTGGGACACTATGTTGAGCCTAGGTGAGTG CACACTGGGGCACTATGATGAGGCTAGGTGAATGCACACTGCGACACTAT GATCAGGCCAGGTGAGTGCACACTGGGACACTATCATGAGGCCCGGTGAG GGCATAGTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGGCCCT ATGATGATGCTCGGTGAGCGGACACTGGGACACTATGATGAGGCCAGGTG AGTGCACACTGCGGTACTATGATGAGTCCAGGTGAGCGCACACTGGGACA CTATGATGAGGCTAGGTGACCGCACACTGGGACAGTATGTTGAGGCCAGG TGAGCGCACACTGCGGCACTATGATGAGGCTAGGTGATTGCACACTGGGA CACTATGATGAGTCTAGGTGAGTGCACACTGCGACACTATGATGAGGCTG GATGAGCGCACCCTGGGACACTATGATGAGGCTAGGTGAGTGCGCACTGG GACTCTATGATGAGGCTAGCTGAGTGCACACTGGGA	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TMEM242_chr6_157284025_157328519	157313148	G G	GCTCACCT others(707): Show GCTCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCAA CATAGTGCCCCAGTGTGCGTTGACCTGGCCTCATTATAGTGCCCCAGTGT GCACTCACCAAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTGGCCTC ATCATAGGATCCCAGTGTCTGCTCACCTGGCCTCATCATAGTGTCCCAGT GTGCGCTCACCCGGCCTCATCATAGTGCCCCAGAATGCGCTCCCCTGGCC TCATCATAGTGCCCCAGTGAGCGCGCACCCAGCCTCATCATAGTGCCGCA GTGTGCGCTCACGTGACTTCAACATAGTGTCCCAGTGTGCACTCACCCGG CCTCATCATAGTACCCCAGTGTGCACTCACCTGGCCTCATCATACTGTCC CAATGTGCACTCACCTGGCCTCATCATAGTGTCCCAGGGTGCAATCACCA GGCCTCATCATAGTGTCCCAGTGTCCGCTCACCTGGCCTCATCATAGTGC GCCAGTGTGTGCTCAACTAGCCTCATCATAGTGCCCCATTGTGCGCTCAT CTACCCTCATCATAGTGTCCCAGTGTGCACTCACCTGGCCTCATCATACT GTCCCAGTGTGCGCTCACCTAGCCTCATCATAGTGTCCCAGTGTGCACTC ACCCGGTCTCATGATAGTGTCCCAGTGTGCGCTGACCTAGCCTCATCATA GTGTCCCAGTGTGCA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02132.hp2 HG02293.hp2 others(7): Show HG01981.hp1 HG02132.hp2 HG02293.hp2 HG02717.hp2 HG02818.hp2 HG02886.hp1 HG03486.hp1 NA19043.hp2 NA19068.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0021 a0001c0001t0002 a0001c0001t0005 a0001c0001t0021	a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 others(6): Show a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0264 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0021g0003	10	306	0.0327	714	c.327 others(731): Show c.327+5633_327+5634insTGCACACTGGGACACTATGATGAGGCTA GGTCAGCGCACACTGGGACACTATCATGAGACCGGGTGAGTGCACACTGG GACACTATGATGAGGCTAGGTGAGCGCACACTGGGACAGTATGATGAGGC CAGGTGAGTGCACACTGGGACACTATGATGAGGGTAGATGAGCGCACAAT GGGGCACTATGATGAGGCTAGTTGAGCACACACTGGCGCACTATGATGAG GCCAGGTGAGCGGACACTGGGACACTATGATGAGGCCTGGTGATTGCACC CTGGGACACTATGATGAGGCCAGGTGAGTGCACATTGGGACAGTATGATG AGGCCAGGTGAGTGCACACTGGGGTACTATGATGAGGCCGGGTGAGTGCA CACTGGGACACTATGTTGAAGTCACGTGAGCGCACACTGCGGCACTATGA TGAGGCTGGGTGCGCGCTCACTGGGGCACTATGATGAGGCCAGGGGAGCG CATTCTGGGGCACTATGATGAGGCCGGGTGAGCGCACACTGGGACACTAT GATGAGGCCAGGTGAGCAGACACTGGGATCCTATGATGAGGCCAGGTGAG TGCACACTGGGGCACTATGATGAGGCTTGGTGAGTGCACACTGGGGCACT ATAATGAGGCCAGGTCAACGCACACTGGGGCACTATGTTGAGGCTAGGTG AGTGCACACTGGGGCACTATGATGAGGCTAGGTGAG	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TNK2_chr3_195858364_195913551	195880769	C C	CCCCCCCC others(707): Show CCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTGTAAC ACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCTGTAA CACCCGCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCATCTATCCCTG TAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAACCCT GTAACACCCGCCCCCCAGCAATGACCCTCGGAGAGGACACAGCATCTATC CCTGTAACACCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTATC CCTGTAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTAT CCCTGTAACACCCCCCCCAGCAATGCCCCTTGGAGAGGACACAGCATCTA ACCCTGTAACACCCGCCCCCCAGCAATGCCCCTCGGAGAGGACACAGCAT CTATCCCTGTAACACCCCCCCAGCAATGCCCCTTGAAGAGGACACAGCAT ATATCCCTGTATCACCTAACTCAGCAATGACCCTCGGAGAGGACACAGCA TCTATCCCTGTAACA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	369	0.0027	714	c.887 others(731): Show c.887+1281_887+1282insTGTTACAGGGATAGATGCTGTGTCCTCT CCGAGGGTCATTGCTGAGTTAGGTGATACAGGGATATATGCTGTGTCCTC TTCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGCTGTGTCCTC TCCGAGGGGCATTGCTGGGGGGCGGGTGTTACAGGGTTAGATGCTGTGTC CTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGCTGTGT CCTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGCTGTG TCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGCTGTG TCCTCTCCGAGGGTCATTGCTGGGGGGCGGGTGTTACAGGGTTAGATGCT GTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCGAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGTGTTACAGGGATAGATGC TGTGTCCTCTCCGAGGGGCATTGCTGGGGGGCGGGTGTTACAGGGTTAGA TGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGGGTGTTACAGGGATAG ATGCTGTGTCCTCTCCAAGGGGCATTGCTGGGGGGG	TNK2	ENSG00000061938.21	transcript	ENST00000672887.2	protein_coding	6/15			chr3	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGGTTAG others(707): Show GGGGTTAGGGAGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTGG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTA GGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCG GGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTT AGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGA GACCAGGGGTTAGGGAGGCCGGGGGTAGGGAGGCTGGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGG GGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTT AGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCC AGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	371	0.0027	714	c.47 others(725): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTCCCTAACCCCCAGCC TCCCTACCCCCGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACC CCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGC CTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTA ACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCC GGCCTCCCTAACCCTAGGCCTCCCTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(707): Show TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATAAAAATTATATATATTATATATATAAAAATTA TATATATATTATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATAAAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATAATATATATATAAAAATTATATATA TAATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTGTATATATATAAAA ATTATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	72	0.0139	714	c.29 others(725): Show c.2923_*2924insTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATAAAAATTATATATATTA TATATATAAAAATTATATATATATTATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATAAAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATAATATATATA TAAAAATTATATATATAATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TGTATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(707): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01069.hp2 others(18): Show HG00408.hp2 HG00609.hp1 HG01069.hp2 HG01071.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG02165.hp2 HG02683.hp1 HG03017.hp1 HG03239.hp1 HG03491.hp2 HG03704.hp2 HG03942.hp1 HG04199.hp1 NA18522.hp1 NA18942.hp1 NA18968.hp1 NA19000.hp2 NA19011.hp1 NA19080.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0044 a0001c0051 a0012c0045	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0007t0001 a0001c0044t0001 a0001c0051t0001 a0012c0045t0001	a0001c0001t0001g0142 a0001c0002t0001g0013 a0001c0002t0001g0050 others(18): Show a0001c0001t0001g0142 a0001c0002t0001g0013 a0001c0002t0001g0050 a0001c0002t0001g0079 a0001c0002t0001g0095 a0001c0002t0001g0100 a0001c0002t0002g0014 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0054 a0001c0002t0002g0057 a0001c0002t0002g0068 a0001c0006t0001g0156 a0001c0007t0001g0012 a0001c0007t0001g0017 a0001c0007t0001g0087 a0001c0044t0001g0025 a0001c0051t0001g0032 a0012c0045t0001g0035	21	153	0.1373	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(707): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0063 a0001c0002t0004g0063	1	133	0.0075	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347035	T T	TGGACCTG others(707): Show TGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATTATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGAC CAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGA CCAGTCATCTCAGGC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0053 a0001c0007t0001g0053	1	133	0.0075	714	c.204 others(735): Show c.2046+10539_2046+10540insTATGCTGGACCAGTCATCTCAGGC GGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAG TCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCA GTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACC AGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347040	C C	CTGAGGTC others(707): Show CTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGA CCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGG ACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCG GACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGC GGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG CGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAG GCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCA GGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTC AGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATCT CAGGCGGACGTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCATC TCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCAT CTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTCA TCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGTC ATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGATGCTGGACCAGT CATCTCAGGCGGACG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0014 a0014	a0014c0046 a0014c0046	a0014c0046t0001 a0014c0046t0001	a0014c0046t0001g0052 a0014c0046t0001g0052	1	196	0.0051	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACGTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGG TCCTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIO_chr5_14138342_14515204	14347322	C C	CTGGACCA others(707): Show CTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGAT GATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATGA TGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGATG ATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGAT GATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAGA TGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGAG ATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAGA GATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACAG AGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGGTCCTGCA GAACAGAGATGATGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0097 a0001c0005t0001g0097	1	161	0.0062	714	c.204 others(735): Show c.2046+10613_2046+10614insCGGACCTGAGGTCCTGCAGAACAG AGATGATGATGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAACA GAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAAC AGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGAA CAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAGA ACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCAG AACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGCA GAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTGC AGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCTG CAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCCT GCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTCC TGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGTC CTGCAGAACAGAGATGATGCTGGACCAGTCATCTCAGGCGGACCTGAGGT CCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGGTGGACCTGAGG TCCTGCAGAACAGAGATGATGATGGACCAGTCATCTCAGG	TRIO	ENSG00000038382.23	transcript	ENST00000344204.9	protein_coding	11/56		INFO_REALIGN_3_PRIME	chr5	TogoVar
TWIST2_chr2_238843085_238915534	238870175	C C	CACACACA others(707): Show CACACACACCACACCCCACACACACCCCACACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACAAACCACACACCCTACACACCCCACACACACCACACACC ACACACACACCACACCCCATACACACCACACCCCACACACACCACACCCC ACACACACCCCACACACACCACACACCCCACACACACCACACACCCCATA CACACCACACCCCACACACACCCCACACACACCACACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC AGCACACACCCCACACACACCACACACCCCACACACACCACACCCCACAC ACACCACACCCCACACACACCACACACCCCACACACACCACACACCACAC ACACACCACACACCACACACCCCACACACACCACACACACCACACCCCAT ACACACCACACCCCATACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACACCCCACACACACCACACAAA CCACACACCCCACACACACCACACACACCACACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACACACATCACATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	325	0.0031	714	c.35 others(733): Show c.35+21442_*35+21443insACACACACCACACCCCACACACACCC CACACACACCACACACCCCACACACACCACACACCCCACACACACCACAC ACCCCACACACACCACACCCCATACACACCACACAAACCACACACCCTAC ACACCCCACACACACCACACACCACACACACACCACACCCCATACACACC ACACCCCACACACACCACACCCCACACACACCCCACACACACCACACACC CCACACACACCACACACCCCATACACACCACACCCCACACACACCCCACA CACACCACACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACAGCACACACCCCACACACACCACACAC CCCACACACACCACACCCCACACACACCACACCCCACACACACCACACAC CCCACACACACCACACACCACACACACACCACACACCACACACCCCACAC ACACCACACACACCACACCCCATACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACACCCCACACACACCACACAAACCACACACCCCACACACACCACACACA CCACACACCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACACCCCACACACACCACACACACACATCACATA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(707): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0020	1	182	0.0055	714	c.-10 others(731): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF627_chr19_11592483_11624161	11613137	C C	CCCCCTCC others(707): Show CCCCCTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCT CCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTC CTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCT CCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCC CCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCT CCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCC TACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCT CCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCT CTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTT CCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCC CCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTC CTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCT CCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCC CTCCCCTCTCCCCTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0272 a0001c0001t0008g0272	1	270	0.0037	714	c.4-1 others(727): Show c.4-1386_4-1385insTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTC CCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCC CCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCT CCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTC CTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCC CTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCC CCCTCCCCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTC CCCGTCCCCTCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTC TTCCTCTCCCCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCT TCCCCTCTCCTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTC CCCTTCCCTTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCT CCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTC CCCTCACCTGTCCCTCCCCTCTCCCCTTCCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCCCCCCTTCTTC CTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTC CTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCC TTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	9	0.1111	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC CCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTC CTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCC TCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTC CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCT CCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	9	0.1111	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	9	0.1111	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCCTCTCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCTCCCCCTTCCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCC CTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCC CTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTC CTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	9	0.1111	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCTCCCCCTTC CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCC CTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCC TCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTT CTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(707): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCTCCCCCCTCCCCTCCC CCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCC TTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTCC TCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCC TCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCCTCCCCTCTCCCCT CCCCTCCCCCCTCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCC CCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCC CCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCT CCTCCCTCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTA CTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTC TCCCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	9	0.1111	714	c.4-1 others(727): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCTCCTCCCTCCCC CCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCC TCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTC CCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTC CCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCT CCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCCTC CCCTCTCCCCTCCCCTCCCCCCTCCCTCCCCTTCCCCTCTCTTCCTCTCC CCTTCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTC CTCCCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCT TCTCCTCCCCTCCTCCCTCCCTCCCCATCTTCCCTCCCCTCCCCATCTTC CCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTG TCCCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(708): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTC AACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCT CAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGCCC ACCCAACACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCC CCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCAACACATC ACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCCCATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC TCAACACATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCACCCCCCC CATCACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCAC CTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	278	0.0036	715	c.61+ others(730): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTG AGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGA TGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGG GGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAG GTGATGTGTTGAGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG TGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGA GTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGC TGAGGTGATGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGT GATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTG TGGGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGT GGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGG GGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATATACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0014 a0003c0005t0003g0014	1	30	0.0333	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTATATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	30	0.0333	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02615.hp1 HG01167.hp1 HG02615.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0001 a0003c0007t0003 a0001c0001t0001 a0003c0007t0003	a0001c0001t0001g0114 a0003c0007t0003g0124 a0001c0001t0001g0114 a0003c0007t0003g0124	2	31	0.0645	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	30	0.0333	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TATACTATATATATTTTATGTATAGTATATATACTGTATATACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02257.hp2 HG02451.hp2 HG01258.hp1 HG02257.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0009g0002 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0009g0002	3	32	0.0938	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTATATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACATTG others(708): Show GTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATATA TATTTTATGTATAGTATGTACATTGTATATACTATATATATATTTTATGT ATAGTATGTACTATATATATTTTATGTATAGTATATATACTGCATGTACT ATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTA TGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATAT ATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTA CTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTT TATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTAT ATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATG TACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATAT TTTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGT ATATATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTA TGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATAT ATTTTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATA GTATATATACTGTATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	30	0.0333	715	c.505 others(734): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATGCA GTATATATACTATACATAAAATATATATAGTACATACTATACATAAAATA TATATATAGTATATACAATGTACATACTATACATAAAATATATATAGTAC ATACTATACATAAAATATATATATAGTATATACAATGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ARL13A_chrX_100964708_100995831	100972833	G G	GGGCGGGG others(708): Show GGGCGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCC GGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCAGGGGGGCTGACACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGT GGCTGGCCAGGCGGGGGGCTAACCCCCCCACCTCCCTCCCAGACGGGGCG GCTGGCCGGGTGGGAGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTG GCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGCGCGGCTGGCCAGGCGGGGGGCTGACC CCTCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	2	0.5000	715	c.-14 others(730): Show c.-14-841_-14-840insCGGGGGGGCTGACCCCCCCACCTCCCTCCC AGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCAGCTGGCCGGGCAG GGGGGCTGACACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCTGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTAACCCCCCCACCT CCCTCCCAGACGGGGCGGCTGGCCGGGTGGGAGGGCTGACCCCCCCATCT CCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGCGCGGCTGGC CAGGCGGGGGGCTGACCCCTCCACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG	ARL13A	ENSG00000174225.15	transcript	ENST00000450049.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
B3GNTL1_chr17_82937149_83056770	83026624	G G	GAGGAAAG others(708): Show GAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATACACAGAGGA GGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACACAGAGCGGG GCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCA GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGACGGGA GCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCGGGAGCC TGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACGGGAGCCTGC AGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGGAGCCTGCAG ACAAACCCACACTCGACAGACACACAGAGGAGGGCAGGGAGCCTGCAGAC AAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAA ACCCACCCTCGACAGACACACAGAGGAGGGCAGGAAGCCTGCAGACAAAC CCACCCTCGACAGACACACAGAGCAGGGCGGGGAGCCTGCAGACAAACCC ACCCTCGACAGACACGCAGAGGAGGGCAGGAAGCCTGCAGACAAACCCAC CCTCGACAGACACGCAGAGCAGGGCAGGAAGCCTGCAGACAAACCCACCC TCGACAGACACACAGAGGAGGGCAGGAAGCCTGCAGACAAACCCACCCTC GACAGACACACAGAGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG02818.hp1 HG02922.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0019 a0001c0003 a0004c0019	a0001c0003t0014 a0004c0019t0004 a0001c0003t0014 a0004c0019t0004	a0001c0003t0014g0193 a0004c0019t0004g0192 a0001c0003t0014g0193 a0004c0019t0004g0192	2	259	0.0077	715	c.297 others(732): Show c.297+8410_297+8411insGCTCTGTGTGTCTGTCGAGGGTGGGTTT GTCTGCAGGCTTCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGT CTGCAGGCTTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCT GCAGGCTTCCTGCCCTCCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGC AGGCTCCCCGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAG GCTTCCTGCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGC TTCCTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTC CCTGCCCTCCTCTGTGTGTCTGTCGAGTGTGGGTTTGTCTGCAGGCTCCC TGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGT CCCGCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCCC GCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCT CTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTG TGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGT GTCTGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTAT CGGTCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
C2CD4C_chr19_400445_414147	410934	C C	CCTGCTGG others(708): Show CCTGCTGGGCTCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCG GATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTC TGTCCACCGCCCCTGCTGGGCCCGAGCCGGGAGGAGGGTCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGCCCCT GCTGGGCTCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCC ACCGTCTCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTG GGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGATCCTG GGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCAC CGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGG CCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGG GGTCTGTCCACCGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0042 a0001c0001t0030g0042	1	279	0.0036	715	c.-19 others(726): Show c.-1970_-1969insTGACGGTGGACAGACCCCCAGGATCCGGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGA GACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGA CCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCG GGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGG CGGTGGACAGACCCCCAGGATCCGAGCCCAGCAGGGGCAGTGGACAGACC CCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGACCCTCC TCCCGGCTCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGC CCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGTGACGG TGGACAGACCCCCAGGATCCGAGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1788		chr19	TogoVar
CEP72_chr5_607340_658553	650982	C C	CTGTGAGG others(708): Show CTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGC GTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGA CTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAGGCGTGGACTGTGAGGC GTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTG AGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGCGTGGAC TGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTG TGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTG TGAGGCATGGACTGTGAGGTGTGACTGAGGTGTGACTGAGGTGTGACTGT GAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGA CTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGT GTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGA GGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACT GAGGTGTGACTGTGGG	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	23	0.0435	715	c.177 others(734): Show c.1779-1999_1779-1998insGGTGACTGTGAGGCGTGGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACT GTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTG GACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGGGTGACTGTGAG GCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTG TGAGGCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGCGTGGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGG CGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTGT GAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGGA CTGTGAGGTGTGACTGTGAGGCATGGACTGTGAGGTGTGACTGAGGTGTG ACTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGT GGACTGTGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAG GCGTGGACTGTGAGGTGTGACTGTGAGGTGTGACTGTGAGGCGTGGACTG TGAGGTGTGACTGTGAGGCGTGGACTGTGAGGTGTGACTGTGAGGCGTGG ACTGTGAGGTGTGACTGAGGTGTGACTGTGGGTGTGAGG	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(708): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTT CCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCC CCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTC CTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTC CCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTACCCCCTTCCTC TCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCCCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTT CTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTTCC CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT ACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCC CTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02818.hp1 HG02896.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0012 a0001c0006t0001g0012	2	9	0.2222	715	c.69 others(726): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CCTTCCTCCCTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCT CCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTC CCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTC CTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTC CCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCT TCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCC CTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCCCTTCCCCCTTCC CCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCTCCCTT CCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCTTCCTCCCTCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCT CCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTT CCTCCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCT CTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(708): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	8	0.1250	715	c.217 others(730): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCTCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTT CTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(708): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0148 a0001c0016t0001g0148	1	8	0.1250	715	c.217 others(730): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCCAACCACACT GCCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCG TGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGT GGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGT GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCCCCCCAACCACACTGCCCGTGTGGCTGCCCCTGGCCCCGTGCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCA CACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCCCCTC CCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL27A1_chr9_114150537_114317511	114278403	T T	TGGTGATA others(708): Show TGGTGATAGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGATGGTGGTGGTGATGATGATGGTGGTG GTGATGGTGGTGGTGGTTGGTGGTGGTGATGATGGCGGGGGTGATGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTG GTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGT GGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGATGATGGTGG GGGTGGGGGTGGTGGTGATAGTGATAGTGGTAATGATAATGATGATGATG GGGCAGTGATGATGGTGGTGGTGATGGTGGTGGTGATAATGGTGGTGGTG GTACTAATGATAGTGGTAGTGGTGGTGATGATGGGTGGTAGTGATGGTAG TAGTGATGGCAGGGGAGTGATGATGGTGGTCATGGCAGTGGTGGGGGTGG GAGTGGAGTGGAGGTGAGGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGA TGGTGGTGGTGATGATGATGGTGGTGGTGATGGTGGTGATGATGATGGCG GGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGAT GGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTGGTGGTGGTGA TGATGGTGGGGGTGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0003 a0008c0025t0003	a0008c0025t0003g0185 a0008c0025t0003g0185	1	20	0.0500	715	c.371 others(734): Show c.3717+2639_3717+2640insATAGTGGGGGTGGGAGTGGAGTGGAG GTGAGGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGATGGTGGT GGTGATGATGATGGTGGTGGTGATGGTGGTGGTGGTTGGTGGTGGTGATG ATGGCGGGGGTGATGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGAT GATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGG TGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCGGGGGTGGTG GTGGTGGTGATGATGGTGGGGGTGGGGGTGGTGGTGATAGTGATAGTGGT AATGATAATGATGATGATGGGGCAGTGATGATGGTGGTGGTGATGGTGGT GGTGATAATGGTGGTGGTGGTACTAATGATAGTGGTAGTGGTGGTGATGA TGGGTGGTAGTGATGGTAGTAGTGATGGCAGGGGAGTGATGATGGTGGTC ATGGCAGTGGTGGGGGTGGGAGTGGAGTGGAGGTGAGGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGATGATGGTGGTGGTGAT GGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGATGATGGCGGGGG TGGTGGTGGTGATGATGATGGCGGGGGTGGTGGTGGTGATGTTGATGGCG GGGGTGGTGGTGGTGGTGATGATGGTGGGGGTGGGGGTG	COL27A1	ENSG00000196739.15	transcript	ENST00000356083.8	protein_coding	37/60		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(708): Show CTCTGTCCCTCCGTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTT GCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0002 a0002c0041t0002	a0002c0041t0002g0369 a0002c0041t0002g0369	1	156	0.0064	715	c.275 others(732): Show c.2759-551_2759-550insCTCTGTCCCTCCGTTGCTGGAGACACAC TGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCT GGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACA GTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGG AGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTG CTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTC CGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTT CTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAG ACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTG	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(708): Show CTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATT GCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	156	0.0064	715	c.275 others(732): Show c.2759-543_2759-542insCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTC CTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACA CTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCT GGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCC TTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCT CCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTG TTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481937	C C	CTCTGTCC others(708): Show CTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGA GACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTC CATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGT TCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAG ACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCC ATTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTC TGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGA CACACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCG TTGCTGGAGACACACTGTTCTGTCCTTCCATTGCTGGAGACACACTGTTC TGTCCCTCCGTTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGA CACACTGCTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCG TGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCT GTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTGCTGGAGACA CACTGTTCTGTCCTTCCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTT GCTGGAGACACACTGT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02083.hp2 HG02602.hp2 others(8): Show HG02056.hp1 HG02083.hp2 HG02602.hp2 HG04228.hp2 NA18950.hp2 NA18983.hp1 NA18988.hp1 NA18992.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0024 a0001c0025 a0006c0033	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0003t0002 a0001c0003t0017 a0001c0004t0005 a0001c0024t0003 a0001c0025t0002 a0006c0033t0012	a0001c0001t0001g0155 a0001c0001t0003g0063 a0001c0001t0023g0329 others(8): Show a0001c0001t0001g0155 a0001c0001t0003g0063 a0001c0001t0023g0329 a0001c0003t0002g0330 a0001c0003t0002g0353 a0001c0003t0017g0178 a0001c0004t0005g0104 a0001c0004t0005g0230 a0001c0024t0003g0087 a0001c0025t0002g0346 a0006c0033t0012g0337	11	166	0.0663	715	c.275 others(732): Show c.2759-543_2759-542insCTCCGTTGCTGGAGACACACTGCTCTGT CCCTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACAC ACTGTTCTGTCCCTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTG CTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTC CTTCCGTTGCTGGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACA CTGTTCTGTCCCTCCGTGCTGGAGACACACAGTTCTGTCCTTCCGTTGCT GGAGACACACTGCTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCC CTCCGTTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCTGGAGACACAC TGTTCTGTCCTTCCATTGCTGGAGACACACTGTTCTGTCCCTCCGTTGCT GGAGACACACAGTTCTGTCCTTCCGTTGCTGGAGACACACTGCTCTGTCC TTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTGCTGGAGACACACT GCTCTGTCCCTCCGTTGCTGGAGACACACTGCTCTGTCCCTCCGTTGCTG GAGACACACTGTTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCCTT CCGTTGCTGGAGACACACAGTTCTGTCCCTCCGTTGCTGGAGACACACTG TTCTGTCCCTCCGTGCTGGAGACACACTGTTCTGTCC	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL5A1_chr9_134636803_134849843	134657109	C C	CAGTTTAT others(708): Show CAGTTTATAGATGATATGGGGGTGGGGAGGGGGGTGCAGTTTATAGATGA TATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATATGGGGGTGGGGAC AGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTAT AGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGG CGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCA GTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTGTAGATAATA TGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGGGGCGG GGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAGTATAGTTTATAG ATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATAATATGGAGGCGG GGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGTAGGGGAGTGCAG TGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACTTTATAGATAATA TGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATATGGGGGCGGGGCA GGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGGGGTGCAGTTTGT AGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATAGATAATATGGGG GTGGGGTAGGGGGTGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0258 a0001c0005t0014g0258	1	13	0.0769	715	c.109 others(734): Show c.109+14824_109+14825insGATATGGGGGTGGGGAGGGGGGTGCA GTTTATAGATGATATGGGGGTGGGGAAGGGATGCAGTTTATAGATGATAT GGGGGTGGGGACAGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGG GGTGCAGTTTATAGATAATATGGGGGCGGGGCGGGGGTGCAGTTTATAGA TAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATGGGGGCGG GGCGGGGGTGCAGTTTATAGATAATATGGGGGGCGGGGCGGGGGTGCAGT TTGTAGATAATATGGGGGGCGGGGCGGGGGTGCAGTTTATAGATAATATG GGGGCGGGGCGGGGGTGTAGCTTATAGATAATATGGGGGCAGGGCCAGAG TATAGTTTATAGATAATATGGAGGCGGGGCGGGGGTACAGTTTATAGATA ATATGGAGGCGGGGCGGGGGTGTAGTTTATAGGTAATATGGAGGTGGGGT AGGGGAGTGCAGTGTATAGATAATATGGGGGGCGGGGCAGGGGGTGTACT TTATAGATAATATGGGGGGCGGGGTAGGGGGTGTAGTTTATAGATAATAT GGGGGCGGGGCAGGGGGTGCAATTTATAGATAATATGAGGGTGGGGCAGG GGTGCAGTTTGTAGATAATATGGGGGGCAGGGCAGGGGGTGCAGTTTATA GATAATATGGGGGTGGGGTAGGGGGTGTAGTTTATAGAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CRTC3_chr15_90524923_90650345	90647358	A A	ACCCCTCC others(708): Show ACCCCTCCTCAACCTCCACACCACACCCCCTCCACTACCCGCTCCTCACC TCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCTCCTCCTCCTCCACAT CCCTACCCCTCCACACCCCTCCCACCTCACTTTTCCCCCTTCACACACCT CCTCAACCTTCACATCCCTCCCCCTCCACATTCCTTCCCCCTCCTCACCC CTCTCCCCTCATCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCCTCCTCCTCC ACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCCTCCACACCCCTCTTC CTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTTCACACCCCTCACCCC TTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTC CACACCCCTTCTCCTCCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCA CACCCCTCCTCCTCACCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACA CTCATCCTCCTCACCGTTCCTCCACCACATCCCTCCTCCTCCACACCCCT CCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCC ACACCCCTCCTGCTCCACATCCCTCCCCCTCCATCCCCTCCACACCCCTC CCCCTCCTCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	179	0.0056	715	c.52 others(726): Show c.5218_*5219insCCCCTCCTCAACCTCCACACCACACCCCCTCCAC TACCCGCTCCTCACCTCTCCCCTCCCTCACCCCTCCTCCTCCACACCCCT CCTCCTCCTCCACATCCCTACCCCTCCACACCCCTCCCACCTCACTTTTC CCCCTTCACACACCTCCTCAACCTTCACATCCCTCCCCCTCCACATTCCT TCCCCCTCCTCACCCCTCTCCCCTCATCACCCCTCCTCCTCCTCCACACC CCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCACAC CCCTCCTCCTCCTCCACACCCCTCCTCTTCCTCCTCCACACCCCTCCTCC TCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCCTCCTT CACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCTCCTCA CCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCCTTCTC AACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTCCACAC CTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACATCCCTC CTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTCTTCCT CCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCTCCATC CCCTCCACACCCCTCCCCCTCCTCACCCCGT	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2014		chr15	TogoVar
DBNDD1_chr16_89999871_90024456	90003721	G G	GTGACTCC others(708): Show GTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCCACCTTTACATGCACG TGCGGTGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCTACCTTTACAT GCACGTGCGGTGGGACTTCTGTGATTCCCTCCCCCGGCCCGGGCCACCTT TACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCCGGCCCGGGCT ACCTTTACATGCACGTGCGGTGGGACTTCTGTGACTCCCTCCCCTGGCCC GGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCTCCCCT GGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGACTCCCT CCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCTGTGAC TCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGACTTCT GTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGGCGGGA CTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACGTGGGG CGGGACTTCTGTGACTCCCTCCCCTGGCCCGGGCCACCTTTACGTGCACG TGGGGCGGGACTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	378	0.0026	715	c.26 others(726): Show c.2613_*2614insAAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGC CCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCCCACGT GCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCCCGCCC CACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGAAGTCC CGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTCACAGA AGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCAGGGGAGGGAGTC ACAGAAGTCCCACCGCACGTGCATGTAAAGGTAGCCCGGGCCGGGGGAGG GAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAGGTGGCCCGGGCCGGG GGAGGGAATCACAGAAGTCCCACCGCACGTGCATGTAAAGGTAGCCCGGG CCGGGGGAGGGAGTCACAGAAGTCCCACCGCACGTGCATGTAAAGGTGGC CCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACGTAAAG GTGGCCCGGGCCGGGGGAGGGAGTCACAGAAGTCCCGCCCCACGTGCACG TAAAGGTGGCCCGGGCCGGGGGAGGGAGTCA	DBNDD1	ENSG00000003249.15	transcript	ENST00000002501.11	protein_coding		1149		chr16	TogoVar
DISP3_chr1_11474155_11542551	11522694	G G	GGCCCAGC others(708): Show GGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAG CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGAC CCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCG AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0042 a0001c0001t0003g0042	1	334	0.0030	715	c.236 others(734): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGA GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC GAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522694	G G	GGCCCAGC others(708): Show GGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCA GCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG ACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGG CCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGAC CCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCG AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCC AGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGA GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0043	1	334	0.0030	715	c.236 others(734): Show c.2363-1226_2363-1225insACCCAGCCAGAGCCCAGCCAGAGCCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAG GACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGAGCCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGACCCAGCCAGGA CCCAGCCAAGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC GAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACC CAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAG AGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DISP3_chr1_11474155_11542551	11522772	A A	ACCCAGCC others(708): Show ACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGC CAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGAC CCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCC AGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCC CAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCA GGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAG AGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGG ACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAG CGAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGC CAGGACCCAGCCAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0194 a0003c0003t0001g0194	1	327	0.0031	715	c.236 others(734): Show c.2363-1160_2363-1159insACCCAGCCAGAGCCCAGCCAGGACCC AGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCA GCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGA GCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGACCCAG CCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGAG CCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGAC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCC AGAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAGGACC CAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCA GGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCC AGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCA GCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(708): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAG GAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGG AGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGGGG AGGAGGGGGAGGAGGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAG GGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGA GGGAGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGG AGGAGGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGGAGGAGGAGGAGGAGGGAGGAAGGAGGAGGGAGAGGGAGGAGGAGG AGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGG AGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0039 a0039	a0039c0198 a0039c0198	a0039c0198t0001 a0039c0198t0001	a0039c0198t0001g0235 a0039c0198t0001g0235	1	224	0.0045	715	c.118 others(734): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTC CCTCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC CTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCTT CCTCCTCCTCCCCCCTCTTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCTCCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTC CTCCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCC CTCCTCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTC CTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(708): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGA GGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGG AGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGG GGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAG GAGGGGGAGGAGGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGA GGAGGAAGAGGGGGGAGGAGGAGGAAGAGGGGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGAGGA GGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGGAGGAAGGAGGAGGGAGAGGGAGGAGGAGGAGGGAGGAGGAGGAGG GAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGA GGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGA GGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGA GGAGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0006 a0006	a0006c0223 a0006c0223	a0006c0223t0001 a0006c0223t0001	a0006c0223t0001g0121 a0006c0223t0001g0121	1	224	0.0045	715	c.118 others(734): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCCTC CTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCC TCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCTCCCTCCTCCTTCCTCCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCC TCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCT CCTCCTCCCCCCTCTTCCTCCTCCTCCCCCCTCTTCCTCCTCCTCCTCCT CCTCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTCCCCCTCCTCCCTCCTC CCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCCTCCCCCTC CTCCTCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCCTCCT CCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCT CCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EXD3_chr9_137301896_137428162	137355635	A A	AGGGAGGA others(708): Show AGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGAAAGGAGGA AGGAGGACGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGA AGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAC GGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAA GGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA GGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGA AGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGGAAGGAGAAAG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	76	0.0132	715	c.757 others(730): Show c.757+632_757+633insCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTC CTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCCTCC TTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCT TCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCTTCCTCCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCT TCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCA TCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM184B_chr4_17624306_17786621	17764813	T T	TCAGCACT others(708): Show TCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACTCTGTCTCTACTAAAAATACAAAA AATTAGCCAGGTGTGGTGGCAGGTATCTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCC AAGATCTTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGACTCCGTCT CAAAAAACAAAAACAAAAACAAAAAAAACATCCTATGTAATGCTCCTTCT GCTTCAGAAGACTGGGAACAACATTATTCCTGATGGTATCAAAGATTCAC AAGTAGATCTTTCTGCCTCATCTCCTAAATGTCCTACAGCCATACCTCCT AAAGTTTCCACAGCTAAGGAAAAGCCTTCCTCAGGAGATCAGGGACAATG TCTTGTCCCTGTGAGAACTGCTAGTATGCTATTGATTCTACTGGATCGCT GGGCTATGAGAGAGCACTTGTCTCTCTGATACCTTGAGCAACCTGGGAGC ATTTTCCAGATATATCTTATTTTCCTGGAGGCTCAGCATATAGGGAGTAA CTTCAAACAAGTCCATTAGGCAGTCAAAATTCAAACTGACAGTCTGAACT GTGATTATGTCAATGTAATGTGAAAGTAATTCCGGGGTCAGGAGTGGTGG CTCACGCCTATAATCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03486.hp2 others(1): Show HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1	a0001 a0008 a0030 a0001 a0008 a0030	a0001c0008 a0001c0021 a0008c0039 others(1): Show a0001c0008 a0001c0021 a0008c0039 a0030c0040	a0001c0008t0009 a0001c0021t0009 a0008c0039t0013 others(1): Show a0001c0008t0009 a0001c0021t0009 a0008c0039t0013 a0030c0040t0041	a0001c0008t0009g0020 a0001c0021t0009g0068 a0008c0039t0013g0016 others(1): Show a0001c0008t0009g0020 a0001c0021t0009g0068 a0008c0039t0013g0016 a0030c0040t0041g0012	4	234	0.0171	715	c.141 others(734): Show c.141+16345_141+16346insGGATTATAGGCGTGAGCCACCACTCC TGACCCCGGAATTACTTTCACATTACATTGACATAATCACAGTTCAGACT GTCAGTTTGAATTTTGACTGCCTAATGGACTTGTTTGAAGTTACTCCCTA TATGCTGAGCCTCCAGGAAAATAAGATATATCTGGAAAATGCTCCCAGGT TGCTCAAGGTATCAGAGAGACAAGTGCTCTCTCATAGCCCAGCGATCCAG TAGAATCAATAGCATACTAGCAGTTCTCACAGGGACAAGACATTGTCCCT GATCTCCTGAGGAAGGCTTTTCCTTAGCTGTGGAAACTTTAGGAGGTATG GCTGTAGGACATTTAGGAGATGAGGCAGAAAGATCTACTTGTGAATCTTT GATACCATCAGGAATAATGTTGTTCCCAGTCTTCTGAAGCAGAAGGAGCA TTACATAGGATGTTTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAAGCTGGAGTGCAGTGGCAAGATCTTGGCTCACTGT AAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGACTACAGATACCTGCCACCACACCTGGCTAATTTTTTGTATTT TTAGTAGAGACAGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTG	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar
FAM184B_chr4_17624306_17786621	17764813	T T	TCAGCACT others(708): Show TCAGCACTTTGGGAGGCCAAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACACAGTGAAACTCTGTCTCTACTAAAAATACAAAA AATTAGCCAGGTGTGGTGGCAGGTATCTGTAGTCCCAGCTACTCAGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTACAGTGAGCC AAGATCTTGCCACTGCACTCCAGCTTGGGTGACAGAGCGAGACTCCGTCT CAAAAAACAAAAACAAAAACAAAAAAAACATCCTATGTAATGCTCCTTCT GCTTCAGAAGACTGGGAACAACATTATTCCTGATGGTATCAAAGATTCAC AAGTAGATCTTTCTGCCTCATCTCCTAAATGTCCTACAGCCATACCTCCT AAAGTTTCCACAGCTAAGGAAAAGCCTTCCTCAGGAGATCAGGGACAATG TCTTGTCCCTGTGAGAACTGCTAGTATGCTATTGATTCTACTGGATCGCT GGGCTATGAGAGAGCACTTGTCTCTCTGATACCTTGAGCAACCTGGGAGC ATTTTCCAGATATATCTTATTTTCCTGGAGGCTCAGCATATAGGGAGTAA CTTCAAACAAGTCCATTAGGCAGTCAAAATTCAAACTGACAGTCTGAACT GTGATTATGTCAATGTAATGTGAAAGTAATTCCGGGGTCAGGAGTGGTGG CTCATGCCTATAATCC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0001 a0016 a0001 a0016	a0001c0017 a0016c0058 a0001c0017 a0016c0058	a0001c0017t0008 a0016c0058t0015 a0001c0017t0008 a0016c0058t0015	a0001c0017t0008g0175 a0016c0058t0015g0174 a0001c0017t0008g0175 a0016c0058t0015g0174	2	232	0.0086	715	c.141 others(734): Show c.141+16345_141+16346insGGATTATAGGCATGAGCCACCACTCC TGACCCCGGAATTACTTTCACATTACATTGACATAATCACAGTTCAGACT GTCAGTTTGAATTTTGACTGCCTAATGGACTTGTTTGAAGTTACTCCCTA TATGCTGAGCCTCCAGGAAAATAAGATATATCTGGAAAATGCTCCCAGGT TGCTCAAGGTATCAGAGAGACAAGTGCTCTCTCATAGCCCAGCGATCCAG TAGAATCAATAGCATACTAGCAGTTCTCACAGGGACAAGACATTGTCCCT GATCTCCTGAGGAAGGCTTTTCCTTAGCTGTGGAAACTTTAGGAGGTATG GCTGTAGGACATTTAGGAGATGAGGCAGAAAGATCTACTTGTGAATCTTT GATACCATCAGGAATAATGTTGTTCCCAGTCTTCTGAAGCAGAAGGAGCA TTACATAGGATGTTTTTTTTGTTTTTGTTTTTGTTTTTTGAGACGGAGTC TCGCTCTGTCACCCAAGCTGGAGTGCAGTGGCAAGATCTTGGCTCACTGT AAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGT AGCTGGGACTACAGATACCTGCCACCACACCTGGCTAATTTTTTGTATTT TTAGTAGAGACAGAGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTTGGCCTCCCAAAGTGCTG	FAM184B	ENSG00000047662.5	transcript	ENST00000265018.4	protein_coding	1/17			chr4	TogoVar

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