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
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(776): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATAAATATATATAAATATATAAATAT ATAAATATATAAAAATATATAAATACATAAATATATAAATATATAAATAT ATAAATATATAAATATATATAAGTACATATAAATATATATACATAAATAT ATAAATATATAAATATATAAATACATAATATATATAAATATAAAATATAT ATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAATATAT AAATATATAAAAATATATAAAAAATATATACACATATAAATATATATAAA AATATATAAATATATATAAAAATATATAAATATATATTATATATAAATAT ATAATATATAAATATATATAAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATATACAATAT ATAAATATATATAAATATATACAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TATAATATATAAATATATATAAATATATAAATATATATAAATATATATAA TATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03704.hp2 HG03710.hp1 others(1): Show HG03239.hp2 HG03704.hp2 HG03710.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0114 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0087 a0001c0001t0001g0114 a0001c0001t0001g0134	4	15	0.2667	783	c.617 others(800): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATGTATATATATTTATATGTACTTATATATATTTATAT ATTTATATATTTATATATTTATATATTTATGTATTTATATATTTTTATAT ATTTATATATTTATATATTTATATATATTTATATATTTATATATTTATAT ATATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTT TTATATATTTATATTTATATATTTATATATTTATATATTTATATATTATA TATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATT TATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FBXO47_chr17_38931432_38972403	38946735	T T	TATATAAA others(776): Show TATATAAATATATAAATAAAAATATATAAAAATATATACATATATAAATA TAAATATATAATATATAAATATATAAATATATAAATATATAAATATAAAT ATATAAAAATATATAAATATATAAAAATATATAAATATATAAATATATAT AAATATATATAAATATATAAATATATATAAATATATAAATATATAAATAT ATAAAAATATATAAATACATAAATATATAAATATATAAATATATAAATAT ATAAATATATATAAGTACATATAAATATATATACATAAATATATAAATAT ATAAATATATAAATATATAAATACATAATATATATAAATATAAAATATAT ATAATATATAAAATATATTAAAAATATAAAAATATATATAAAAAATATAT AAATATATAAAAATATATAAAAAATATATACACATATAAATATATATAAA AATATATAAATATATATAAAAATATATAAATATATATTATATATAAATAT ATAATATATAAATATATATAAATATATAAATATATATAAATATATACAAT ATATAAATATATATAAATATATACAATATATAAATATATATATACAATAT ATAAATATATATAAATATATACAATATATAAATATATATAAATATATACA ATATATAAATATATATAAATATATACAATATATAAATATATATAAATATA TATAATATATAAATATATATAAATATATAAATATATATAAATATATATAA TATATAAATATATAAAAATATATAAATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	12	0.0833	783	c.617 others(800): Show c.617-1600_617-1599insTATATATATTTATATATTTTTATATATT TATATATTATATATATTTATATATATTTATATATTTATATATATTTATAT ATTATATATATTTATATATATTTATATATTGTATATATTTATATATATTT ATATATTGTATATATTTATATATATTTATATATTGTATATATTTATATAT ATTTATATATTGTATATATATATTTATATATTGTATATATTTATATATAT TTATATATTGTATATATTTATATATATTTATATATTTATATATATTTATA TATTATATATTTATATATAATATATATTTATATATTTTTATATATATTTA TATATTTTTATATATATTTATATGTGTATATATTTTTTATATATTTTTAT ATATTTATATATTTTTTATATATATTTTTATATTTTTAATATATTTTATA TATTATATATATTTTATATTTATATATATTATGTATTTATATATTTATAT ATTTATATATTTATATATTTATGTATATATATTTATATGTACTTATATAT ATTTATATATTTATATATTTATATATTTATATATTTATGTATTTATATAT TTTTATATATTTATATATTTATATATTTATATATATTTATATATTTATAT ATATTTATATATATTTATATATTTATATATTTTTATATATTTATATATTT TTATATATTTATATTTATATATTTATATATTTATATATTTATATATTATA TATTTATATTTATATATGTATATATTTTTATATATTTTTATTTATATATT TATAT	FBXO47	ENSG00000204952.3	transcript	ENST00000378079.3	protein_coding	6/10			chr17	TogoVar
FLT3_chr13_27998274_28105576	27999085	A A	ATGTATAT others(776): Show ATGTATATACATATATACATATGTATATATGTATATACATATATATATAT GTATATACATATAAATATATATGTATATACATATAAATATATATGTATAT ACATATAAATATATATGTATATACATATAAATATATATGTATATACATAT AAATATATATGTATGTATATTATATACATATAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATATTTATATACATATAAATATATATTTATATACATATAAA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TTTACATACATATAAATATATATTTACATACATATAAATATATACATTTA TATACATATAAATATATACATATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATATATTTATATATATATAAATATATATATA TTTATATATATATAAATATATATATATTTATATATATATAAATATATATA TATTTATATATATATACATATAAATATATATTTATATACATATAAATATA TAATTATATACATATAAATATATATAATTATATACATATAAATATATATT TATATACATATAAATATATATTTATATACATATAAATATATATTTATATA CATATAAATTTATATACATATAAATATAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0201 a0003c0003t0001g0201	1	213	0.0047	783	c.49 others(794): Show c.4966_*4967insAATATTTATATTTATATGTATATAAATTTATATG TATATAAATATATATTTATATGTATATAAATATATATTTATATGTATATA AATATATATTTATATGTATATAATTATATATATTTATATGTATATAATTA TATATTTATATGTATATAAATATATATTTATATGTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATAAATATATATATTTATA TGTATATAAATATATATTTATATGTATATATGTATATATTTATATGTATA TAAATGTATATATTTATATGTATGTAAATATATATTTATATGTATGTAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAAATATATATATTTATATGTATATAATATACATACATATATATTT ATATGTATATACATATATATTTATATGTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACATATATATTTATATGTATATAC ATATATATATATGTATATACATATATACATATGTATATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4188		chr13	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(776): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCCGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGG GGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGCACGGCTGGCCGGGCGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	96	0.0104	783	c.278 others(802): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCGGGCGGGGGGGCTG ACCCCCC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FMR1NB_chrX_147976337_148031665	147992469	C C	CCCCCCCC others(776): Show CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAG GGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGG GCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG GGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACTGCACGGCTGGCCGGGCGGGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	96	0.0104	783	c.278 others(802): Show c.278-10726_278-10725insCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC CCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGAGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCGGGGGGCTGACCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGG CGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCAGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGT GGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACTGCACGGCTGGCCGGGCGGGGGGGGCTG ACCCCCC	FMR1NB	ENSG00000176988.9	transcript	ENST00000370467.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chrX	TogoVar
FOXK2_chr17_82514732_82609602	82586503	G G	GGGGGGAA others(776): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGA GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGGGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAG GAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGGGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0214 a0001c0001t0005g0214	1	234	0.0043	783	c.157 others(800): Show c.1576+307_1576+308insGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTCAAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCCGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTAGGCGGAGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAA GGTGGGCAGTGGGGAAAGGAGGAGAGGGGGGACCACAGGGAGGTCAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGG GCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGC CGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGC GGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCG GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGG AGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
HBQ1_chr16_175459_186179	186152	G G	GGGAGGAA others(776): Show GGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAG CGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAA CAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACG GGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGGG GGAACAGCGACACGGGGAGGAACAGCGACACGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	348	0.0029	783	c.50 others(794): Show c.5044_*5045insGGAGGAACAGCGACACGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGA ACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG AGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGG GAGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAG CGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGAGG AACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGA	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4974		chr16	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(776): Show TCTACCACCACCACCACCACCACCACTACCACCACCACCACCACCACCAC CACCACTACCACCTCTACCACCTCTACCACCACCATCATCACCACCACCA CTACCACCTCTACCACCACCACCACCACCACCACCACTACCACCTCTACC ACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTACCACCAC CATCATCACCACCACCACTACCACCTCTACCACCACCATCATCACCACCA CCACTACCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCT ACCACCACCATCATCACCACCACCACTACCACCTCTACCACCACCACCAC CACCACCACTACCACCACCACCACCACCACCACCACCACTACCACCTCTA CCACCTCTACCACCACCATCATCACCACCACCACTACCACCTCTACCACC ACCATCATCACCACCACCACTACCACCTCTACCACCACCATCATCACCAC CACCACTACCACCTCTACCACCACCATCATCACCACCACCACTACCACCT CTACCACCACCATCATCACCACCACCACCATCACCTCTACCACCACCATC ACCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCAC CATCACCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTA CCACCACCATCACCACCACCACCACCACCTCTACCACCACCATCACTACT ACCACCACCACCATCACCACCTCTACCACCATCG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0016 a0008c0009t0016	a0008c0009t0016g0082 a0008c0009t0016g0082	1	19	0.0526	783	c.520 others(804): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGATGG TGGTGGTGGTAGTAGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGA GGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGATGATG GTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGT GGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGG TGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTG GTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGT AGTGGTGGTGGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGA TGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAG GTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGT GGTGATGATGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGG TGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTA GAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGAGGT GGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGG TGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925812	A A	ATGGATGG others(776): Show ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0037 a0001c0001t0025g0037	1	354	0.0028	783	c.666 others(800): Show c.666-4692_666-4691insACCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCAT CCATCCATCCAACCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA ACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(776): Show ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATAGATGGATTGGTTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGA TGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0279 a0001c0001t0003g0279	1	318	0.0031	783	c.666 others(800): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAAC CAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATC CATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAACCAATCCATCTATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925820	A A	ATGGATGG others(776): Show ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0274 a0001c0001t0002g0274	1	318	0.0031	783	c.666 others(800): Show c.666-4700_666-4699insACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATC CATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCC ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925852	A A	ATGGATTG others(776): Show ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGG TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGAT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	336	0.0030	783	c.666 others(800): Show c.666-4732_666-4731insCCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAACC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCC AACCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCA ACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATC CAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATTGG others(776): Show TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0051 a0002c0003t0051	a0002c0003t0051g0222 a0002c0003t0051g0222	1	320	0.0031	783	c.666 others(800): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCC ATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(776): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	89	0.0112	783	c.666 others(800): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(776): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG TTGGATGGATGGATGGATGGATGGAGGGATGGATTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATG GATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	89	0.0112	783	c.666 others(800): Show c.666-4737_666-4736insTCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA ACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(776): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0118 a0004c0008t0004g0118	1	89	0.0112	783	c.666 others(800): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC AACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCA TCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCCTCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA ACCAATCCATCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
KCTD8_chr4_44168903_44453809	44179714	T T	TAGGGATC others(776): Show TAGGGATCACTAATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTCT TTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGT CCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGATTATGCGGTG TTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATT TCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCA TAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCAT TGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCG CAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCC TTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAG TTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTA GTTGACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCT CTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGG TGTGAGATGATATCTCATAGTGGTTTTGATTTGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18985.hp2 NA18945.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0173 a0001c0001t0001g0182	2	289	0.0069	783	c.962 others(800): Show c.962-4465_962-4464insGCAAATCAAAACCACTATGAGATATCAT CTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTG CTGGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACT GTCAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGAT CTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATA CCCAAAGGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGT TTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGT CCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGA ATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACAT GGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAA ACCAAACACCGCATAATCTCACTCATAGGTGGGAATTGAACAATGAGATC ACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTC GGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGA CACATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAAC TAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAA AAAAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAGACTATTAGTGA TCCCT	KCTD8	ENSG00000183783.7	transcript	ENST00000360029.4	protein_coding	1/1			chr4	TogoVar
KIF25_chr6_167992671_168050091	167997385	G G	GGCGGGGG others(776): Show GGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGC AGAGATGGGGGCCGGGGGAATCTGCAGAGATGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0153 a0001c0001t0025g0153	1	358	0.0028	783	c.-20 others(794): Show c.-2084_-2083insGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATGGC	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		285		chr6	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(776): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCTTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCCTCTCCCTCTCCCTCACTCTCCCTCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	4	0.2500	783	c.-27 others(794): Show c.-2751_-2750insAGGGAGAGGGAGAGTGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(776): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTG GGGGTGGGGGTGATGATGGTGAGGGTGATGATGGTGGGGGTAATGACGGT GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGG GGTGATGACGATGATGGTGGGGGTGATGACGGTGATGGCGGTGGGGGTGA TGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTG GGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGG GGTGATGACGGTGATGGTAGAGGTGATGATGGTGGGGGTGGGGGTGGGGG TGGGGGTGAGGGTGATGATGGTGGGGGTGATGATGGTGATGGTGGGGGTG ATGATGGTGAGGGTGATGATGGTGGGGGTGATGGTGGGGGTGGGGGTGGG GGTAATGACGGTGGGGTGGGGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	31	0.0323	783	c.956 others(800): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTC ATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCACCGTCATTACCCCCACCATCATCACCCTCACCATCATCACCCC CACCCCCACCATCATCACCCCCACCATCACCATCATCACCCCCACCCCCA CCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATC ACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCAC CATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACATCACCGT CATCACCCCCCCACCCCCATCATCACCGTCATCACCCCTCCACCCCCATC ATCACCGTCATCACCCCCACCATCATCACCCCCAGCCCCACCGTCATCAC CCCCACCATCACCATCATCACCCCCACCCCCACCATCACCACCCCCACCC CCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LHFPL3_chr7_104323603_104913561	104824176	A A	ATATATAT others(776): Show ATATATATAATATATATATTATATATTATATATATAATATATATATTATA TATTATAATATATAATATATAATATATATTATATATATTATATTATATAT TATATATATAATATATTATATATTATATATATATTATATAATATATTATA TATTATATATATATTATATTATATATTATATATAATTATATATATTATAT ATATTATATATTATATATTATATATTATATATTATATATATTATATATTA TATATTATATATTATATATTATATATATTATATATTATATATTATATTTT ATATATATTATATATTATATATACAATTATATATATTATATATATTATAT ATTATATATATTATATATTATATAATATATTATATATAATATATATTATA TATTATATATTATATAATATATATATAATATATTATATATTATATATTAT ATAATATATATATAATATATATTATATATTATATATTATATAATATATAA TATATAATATATATTATATATATATTATATAATATATTATATATATAATA TATTATATAATATATTATATATATAATATATATTATATATAATATATATA ATTGTATATATAATATATAATATATAATATATAATATATATAATATATAA TATATAATATATATAATATATAATATATAATATATAATATATATAATATA TAATATATAATATATAATATATAATATATAATATATAAAATATATATATA AAATATATTATGTATTATATATTATATAATATAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0028 a0001c0001t0003g0028	1	71	0.0141	783	c.683 others(802): Show c.683-81995_683-81994insATTATATATTATATATATAATATATA TATTATATATTATAATATATAATATATAATATATATTATATATATTATAT TATATATTATATATATAATATATTATATATTATATATATATTATATAATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTATATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATTATATATTATATATATTATATATTATATATT ATATTTTATATATATTATATATTATATATACAATTATATATATTATATAT ATTATATATTATATATATTATATATTATATAATATATTATATATAATATA TATTATATATTATATATTATATAATATATATATAATATATTATATATTAT ATATTATATAATATATATATAATATATATTATATATTATATATTATATAA TATATAATATATAATATATATTATATATATATTATATAATATATTATATA TATAATATATTATATAATATATTATATATATAATATATATTATATATAAT ATATATAATTGTATATATAATATATAATATATAATATATAATATATATAA TATATAATATATAATATATATAATATATAATATATAATATATAATATATA TAATATATAATATATAATATATAATATATAATATATAATATATAAAATAT ATATATAAAATATATTATGTATTATATATTATATAATATATTATATATAA TATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(776): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATT TATATATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATATTTATATATATATATTTTTATATATATTTATATATATTTTTA TATATAGTTATATATATTTATATATAGTTATATATATTTATGTATAGTTA TATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATATAGT TATATATAGTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATATTTTTATATATATAGTTATATATATATATTTTTATATA TATAGTTATATATATATATTTTTATATATATAGTTATATATATATATTTT TATATATATAGTTATATATATATATTTTTATATATAGTTATATATTTATA TATATTTATATATATTTATATATATATTTATATATTTATTTATATATATT TATATATGTATTTATATATATTTATATGTATTTATATATATTTATATATA TTTATATATATATATATAAATATATTTATATATATAAATATAAATATTTA TATATATTTATATATATTTATATATATATTTATGTATATTTATATATATT TATATATATATTTATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG03139.hp1 HG02257.hp2 HG02280.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0015g0191 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0015g0191	3	82	0.0366	783	c.125 others(800): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATATATTTTTATATA TATTTATATATATTTTTATATATAGTTATATATATTTATATATAGTTATA TATATTTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATG TATAGTTATATATATAGTTATATATAGTTATATATATAGTTATATATATA TATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATA TATATATATTTTTATATATATAGTTATATATATATATTTTTATATATATA GTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTATA TATAGTTATATATTTATATATATTTATATATATTTATATATATATTTATA TATTTATTTATATATATTTATATATGTATTTATATATATTTATATGTATT TATATATATTTATATATATTTATATATATATATATAAATATATTTATATA TATAAATATAAATATTTATATATATTTATATATATTTATATATATATTTA TGTATATTTATATATATTTATATATATATTTATGTATATTTATATATGTA TTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LUC7L_chr16_183990_234449	186153	G G	GGAGGAAC others(776): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGA CACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGAGG AACAGCGACACGGAGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	237	0.0042	783	c.30 others(794): Show c.3044_*3045insTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTT CCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTG TCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCC CCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGC TGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGT GTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCC CCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2836		chr16	TogoVar
MICAL3_chr22_17782649_18029561	17876829	T T	TGGAGGTT others(776): Show TGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAG GTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAG GGAAGTTATGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGC TTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAGCTTATGGAGGTTAGG GAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGGGAGGT TATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGTTAGGG AGGTTAGGGAGGTTAGGGAAGTTATGGAGGTTATGGCAGTTATGGAGGTT AGGGAGATTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGA GGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTA TGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAG GGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTTAGG GAAGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGT TAGGGAGATTATGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGG AGGTTAGGGAAGTTATGGAGGTTATGGAGGTGAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0048 a0002c0048	a0002c0048t0002 a0002c0048t0002	a0002c0048t0002g0076 a0002c0048t0002g0076	1	199	0.0050	783	c.224 others(802): Show c.2242-4807_2242-4806insCTCACCTCCATAACCTCCATAACTTC CCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAA TCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACTTCCCTAACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAAC CTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCC TCACCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACC TCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCT AACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAACCTCCCTCACCT CCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATA ATCTCCCTAACCTCCATAACTGCCATAACCTCCATAACTTCCCTAACCTC CCTAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCATAA CCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCCCTAACCTCC TTAACCTCCCTAACCTCCATAAGCTCCCTAACCTCCTTAACCTCCCTAAC CTCCATAAGCTCCCTAACCTCCATAACCTCCCTCACCTCCATAACCTCCA TAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCTAACC TCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAACTGCCAT AACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MICAL3_chr22_17782649_18029561	17877369	G G	GGGAGGTT others(776): Show GGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAG GTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAGGGAGG TTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGG GAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTATGGAGGT TAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAAGTTATGG AGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTT AGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTATGGA GGTTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTA GGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTATGGAGGTTATGGAG GTTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTAG GGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGTTAGG GAAGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGGG AGGTTAGGGAAGTTATGGAGGTTAGGGAGATTAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0071 a0003c0004t0001g0071	1	159	0.0063	783	c.224 others(802): Show c.2242-5347_2242-5346insATAATCTCCCTAACCTCCATAACTTC CCTAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTAACCTCCATAA CCTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC ATAACTTCCCTAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTCACCTCCCT AACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTA ACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAACCTC CATAACCTCCATAACTTCCATAACCTCCATAACCTCCCTCACCTCCCTAA CCTCCCTAACCTCCATAACCTCCATAACCTCCCTAACCTCCATAACCTCC CTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTAAC CTCCATAACCTCCCTAACCTCCATAACCTCCATAACTTCCCTAACCTCCA TAACCTCCCTAACCTCCATAACCTCCATAACCTCCATAACCTCCCTCACC TCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCT AACCTCC	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(776): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0250 a0001c0026t0001g0250	1	32	0.0313	783	c.241 others(802): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537628	T T	TGGGAGGT others(776): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAG CCCTCCGCCGGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGTGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCC CGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGG GGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGG GGGGTCAGTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCGCCCGGCCAGCCGCCACGTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0145 a0001c0028t0001g0145	1	32	0.0313	783	c.241 others(802): Show c.241+14477_241+14478insGGACGTGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGA CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGG CTGACCCCCCCCCCCACCTCCATCCTGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCACACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCCG GCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(776): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGG GGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTA GGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAG GATGGAGTGGAGGGGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAG GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAG GATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 NA18950.hp1 others(2): Show HG00558.hp2 HG00609.hp1 NA18950.hp1 NA18980.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0021 a0001c0089 a0001c0003 a0001c0021 a0001c0089	a0001c0003t0001 a0001c0021t0001 a0001c0089t0001 a0001c0003t0001 a0001c0021t0001 a0001c0089t0001	a0001c0003t0001g0046 a0001c0003t0001g0052 a0001c0021t0001g0055 others(2): Show a0001c0003t0001g0046 a0001c0003t0001g0052 a0001c0021t0001g0055 a0001c0021t0001g0056 a0001c0089t0001g0054	5	134	0.0373	783	c.148 others(802): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCC ACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTC CCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCA CTCCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGT GCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTC CCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGTGC TGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCC AGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAAGCCCCCTCCATC CATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTG GACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAG CCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCC ATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203781	A A	ATATAGTA others(776): Show ATATAGTATATATTTATGTATTTATATATAAATATATATTATATATTTAT ATATAAATATTTGTATTTTATATATTTATCTATTTTATATATTAATATAT AAATATTTATATTTTATATATTTATATTTTATATATTTATATATTTTATG ATTTTATAAAATATATAATTTATATAATAATTTTATAAATTATATAATTT ATATATTATATATAATATATTTATATTAAATATTATATAGTTATATATTA TATATAATATATTTATATTAAATATATATTTATATATTATATATAATATA TTTATATTAAATATATATTTATATATTATATATAATATATTTATATTAAA TATATATAATATATATAATATATTTATATTAAATATATATAATATATATA ATATATTTATATTAAATATTATATATTTATATATTATATATAATATATTT ATATTAAATATTATATAGTTATATGTTATATAATATATTTATATTTATAT TAAATATTATATAGTTATATGTTATATAATATATTTATATTAAATATTAT ATATTTATATATTATATATAATATATTTATATTAAATATTATATATTTAT ATATTATATATAATATATTTATATTAAATGTTATATATTTATATATTATA TATAATATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTGAATATTATATATTTATATATTATATAAATATTATATATTTATTTA TTTATATATTTATATTTATTTATTTATTTATATT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0008 a0001c0015t0001g0008	1	136	0.0074	783	c.166 others(802): Show c.1666-6072_1666-6071insATAGTATATATTTATGTATTTATATA TAAATATATATTATATATTTATATATAAATATTTGTATTTTATATATTTA TCTATTTTATATATTAATATATAAATATTTATATTTTATATATTTATATT TTATATATTTATATATTTTATGATTTTATAAAATATATAATTTATATAAT AATTTTATAAATTATATAATTTATATATTATATATAATATATTTATATTA AATATTATATAGTTATATATTATATATAATATATTTATATTAAATATATA TTTATATATTATATATAATATATTTATATTAAATATATATTTATATATTA TATATAATATATTTATATTAAATATATATAATATATATAATATATTTATA TTAAATATATATAATATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATAATATATTTATATTAAATATTATATAGTTATATGTTA TATAATATATTTATATTTATATTAAATATTATATAGTTATATGTTATATA ATATATTTATATTAAATATTATATATTTATATATTATATATAATATATTT ATATTAAATATTATATATTTATATATTATATATAATATATTTATATTAAA TGTTATATATTTATATATTATATATAATATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTGAATATTATATATTTATATATTAT ATAAATATTATATATTTATTTATTTATATATTTATATTTATTTATTTATT TATATTT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYRIP_chr3_39804609_40265321	40203781	A A	ATATAGTA others(776): Show ATATAGTATATATTTATGTATTTATATATAAATATATATTATATATTTAT ATATAAATATTTGTATTTTATATATTTATCTATTTTATATATTAATATAT AAATATTTATATTTTATATATTTATATTTTATATATTTATATATTTTATG ATTTTATAAAATATATAATTTATATAATAATTTTATAAATTATATAATTT ATATATTATATATAATATATTTATATTAAATATTATATAGTTATATATTA TATATAATATATTTATATTAAATATATATTTATATATTATATATAATATA TTTATATTAAATATATATTTATATATTATATATAATATATTTATATTAAA TATATATAATATATATAATATATTTATATTAAATATATATAATATATATA ATATATTTATATTAAATATTATATATTTATATATTATATATAATATATTT ATATTAAATATTATATAGTTATATGTTATATAATATATTTATATTTATAT TAAATATTATATAGTTATATGTTATATAATATATTTATATTAAATATTAT ATATTTATATATTATATATAATATATTTATATTAAATGTTATATATTTAT ATATTATATATAATATATTTATATTAAATGTTATATATTTATATATTATA TATAATATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTGAATATTATATATTTATATATTATATAAATATTATATATTTATTTA TTTATATATTTATATTTATTTATTTATTTATATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00735.hp2 others(26): Show HG00099.hp1 HG00323.hp1 HG00735.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01981.hp1 HG02015.hp1 HG02109.hp2 HG02451.hp2 HG02615.hp1 HG02683.hp1 HG03209.hp1 HG04115.hp1 NA18612.hp1 NA18747.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18970.hp1 NA18979.hp1 NA18982.hp2 NA18986.hp1 NA18990.hp1 NA19002.hp2 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0001c0006 a0003c0003 a0001c0002 a0001c0006 a0003c0003	a0001c0002t0002 a0001c0002t0016 a0001c0006t0002 others(1): Show a0001c0002t0002 a0001c0002t0016 a0001c0006t0002 a0003c0003t0002	a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0030 others(26): Show a0001c0002t0002g0015 a0001c0002t0002g0016 a0001c0002t0002g0030 a0001c0002t0002g0043 a0001c0002t0002g0055 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0075 a0001c0002t0002g0099 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0127 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0157 a0001c0002t0016g0054 a0001c0006t0002g0019 a0003c0003t0002g0012 a0003c0003t0002g0013 a0003c0003t0002g0048 a0003c0003t0002g0051 a0003c0003t0002g0072 a0003c0003t0002g0144 a0003c0003t0002g0162 a0003c0003t0002g0163 a0003c0003t0002g0166	29	164	0.1768	783	c.166 others(802): Show c.1666-6072_1666-6071insATAGTATATATTTATGTATTTATATA TAAATATATATTATATATTTATATATAAATATTTGTATTTTATATATTTA TCTATTTTATATATTAATATATAAATATTTATATTTTATATATTTATATT TTATATATTTATATATTTTATGATTTTATAAAATATATAATTTATATAAT AATTTTATAAATTATATAATTTATATATTATATATAATATATTTATATTA AATATTATATAGTTATATATTATATATAATATATTTATATTAAATATATA TTTATATATTATATATAATATATTTATATTAAATATATATTTATATATTA TATATAATATATTTATATTAAATATATATAATATATATAATATATTTATA TTAAATATATATAATATATATAATATATTTATATTAAATATTATATATTT ATATATTATATATAATATATTTATATTAAATATTATATAGTTATATGTTA TATAATATATTTATATTTATATTAAATATTATATAGTTATATGTTATATA ATATATTTATATTAAATATTATATATTTATATATTATATATAATATATTT ATATTAAATGTTATATATTTATATATTATATATAATATATTTATATTAAA TGTTATATATTTATATATTATATATAATATATTTATATTAAATATTATAT ATTTATATATTATATATATTTATATTGAATATTATATATTTATATATTAT ATAAATATTATATATTTATTTATTTATATATTTATATTTATTTATTTATT TATATTT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
NCR1_chr19_54901148_54918073	54916702	A A	ATTTTTTT others(776): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCCTGCTCTGTCAC CCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTGCAACCTCCGCCTCCC GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAA GTGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGG TTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGGTGATCCACCCGCCTT GGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCAGCTAC TTGTGCTTTTTGACCAACATCTTCCTCTCCTACCACCCCCAGCCCCTGAT AACCTCCACCTACTCTCACTTCTAGGAGATCAACTGTTCTATTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGAAGTCCTGCTCTGTCACCCAGGCTGGA GTGCAGTGGCGCGATCTTGACTCTGCAACCTCCGCCTCCCGGGTTCAAGC GATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAAGTGCGTGCCA CCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATG TTGGTCTCAAACTCCTGGTCTCAGGTGATCCACCCGCCTTGGCCTCCCAA AGTGCTGGGATTACAGACGTGAGCCACCACACCCAGCTACTTGTGCTTTT TGACCAACATCTTCCTCTCCTACCACCCCCAGCCCCTGATAACCTCCACC TACTCTCACTTCTAGGAGATCAACTGTTCTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0007 a0003c0004t0005g0007	1	225	0.0044	783	c.38 others(794): Show c.3831_*3832insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAA GTCCTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTG CAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTT TTAGTAGAGATGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGG TGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCC ACCACACCCAGCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCA CCCCCAGCCCCTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACT GTTCTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGAAGTCCTGCTCT GTCACCCAGGCTGGAGTGCAGTGGCGCGATCTTGACTCTGCAACCTCCGC CTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAAGTGCGTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGA TGGGGTTTCTCCATGTTGGTCTCAAACTCCTGGTCTCAGGTGATCCACCC GCCTTGGCCTCCCAAAGTGCTGGGATTACAGACGTGAGCCACCACACCCA GCTACTTGTGCTTTTTGACCAACATCTTCCTCTCCTACCACCCCCAGCCC CTGATAACCTCCACCTACTCTCACTTCTAGGAGATCAACTGTTCTATTT	NCR1	ENSG00000189430.13	transcript	ENST00000291890.9	protein_coding		3630		chr19	TogoVar
PCBP3_chr21_45638725_45947450	45910104	C C	CCACCCAC others(776): Show CCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGG ACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAG ATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGC CCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACC CACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCC CCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATAT GGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCA GATACGGACCCCCCCCACCCACTGCCCAGATATGGACCCCCCCCACCCAC TGCCCAGATACGGACCCCCCCCCGCCCACTGCCCAGATACGGACCCCCCC CGCCCACTGCCCAGATACGGACCCGGCCCACCCACTGCCCAGATACGGAC CTGGCCACCCACTGCCCAGATACGGACCCGGCCACCCACTGCCCAGATAC AGACCCGGCCCACCCACTGCCCAGATATGGACCCCCCCAACCCACTTCCC AGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCCACACA CACTTCCCAGATACGGACCCCCCTCACCTGCTTCCCAAATATGGACCTGG CCCACCCACTGCCCAGATATGGACCCCCCCCACCACTGCCCAGATACGGA CCCCCCCCCACCCACTTCCCAGATATGGACCTGG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	226	0.0044	783	c.471 others(798): Show c.471+619_471+620insACCCACTGCCCAGATACGGACCCCCCCCCG CCCACTGCCCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCC GGCCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACG GACCCGGCCACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAG ATATGGACCCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACAC TTCCCAGATACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCT CACCTGCTTCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGAC CCCCCCCACCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA TGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCCGCCCACTGC CCAGATACGGACCCCCCCCGCCCACTGCCCAGATACGGACCCGGCCCACC CACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGACCCGGC CACCCACTGCCCAGATACAGACCCGGCCCACCCACTGCCCAGATATGGAC CCCCCCAACCCACTTCCCAGATACGGACCCCCCCACACACACTTCCCAGA TACGGACCCCCCCACACACACTTCCCAGATACGGACCCCCCTCACCTGCT TCCCAAATATGGACCTGGCCCACCCACTGCCCAGATATGGACCCCCCCCA CCACTGCCCAGATACGGACCCCCCCCCACCCACTTCCCAGATATGGACCT GGC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PIAS4_chr19_4002736_4044386	4012030	G G	GGGTGTGG others(776): Show GGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGTGGG GTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGG GGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0218 a0001c0003t0003g0218	1	332	0.0030	783	c.28- others(796): Show c.28-878_28-877insTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GTGGGGTGTGGAGGTGTGTTTGGTGTGGAAGTGTGTGGGGTGTGGAGGTG TGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGTG GGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG TGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTG T	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(776): Show CTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACC CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACC TCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT GCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGC ACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGT ACCCCCACACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTC ACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	159	0.0063	783	c.106 others(800): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCACACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCA CCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACAC CTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCC GCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCC CTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCG TCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACA CACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCL2_chr3_16879955_17095604	16980106	A A	ACCTCCCT others(776): Show ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCC ACCTCCCTCCCGGACGGGGCAGCTGGCCGGGTGGGGGGCTGACCCCCCCA CCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCACCA CTTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCACTTCC CAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCATCCCAGACGGGGCGGC TGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGCGGCT GGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGTGGCCGGCCAGAGG CGCCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCACACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	220	0.0045	783	c.328 others(802): Show c.328-29549_328-29548insGGCTGGCCGGGTGGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGTGGGGGGCTGACCCC CCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCC ACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGTGGCTCCTCAC TTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCACTTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACAGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCATCCCAGACGGGG CGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGAGC GGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTAGGGGTGGCCGGCCA GAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGTGGGGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGAGGCTGACCC CCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCACACCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCTCCCGG ACGGGGC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	16980138	G G	GGGGGGGC others(776): Show GGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGT GGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCG GGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGCGCCCCTCA CTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACTTCCCAGTA GGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGCAGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGG CGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGACTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC ACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	4	0.2500	783	c.328 others(802): Show c.328-29521_328-29520insCCACCTCCCTCCCGGACGGGGCAGCT GGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGGCTGACCCCACCACTTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGTGGCTCCTCACTTCCCAGCAGGGGCGGCCGGGCAGAGGC GCCCCTCACTTCCCGGATGGGGCGGCTGGCTGGGCGGGGGGCTGACCCCC CCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCATCCCAGACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCC CCACCTCCCTCCCGGACGGAGCGGCTGGCCGGGCAGAGCGGCTCCTCACT TCCCAGTAGGGGTGGCCGGCCAGAGGCGCCCCTCACTTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGC TGGCCGGGCGGGAGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCACACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGCT GACCCCC	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(776): Show TCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTGC CTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTC CTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCT CCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTGCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCC TCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCC TCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	140	0.0071	783	c.309 others(802): Show c.3095-4693_3095-4692insCCCTCCCTCCCTCCCTGCCTTCCTCC CTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTTCCTCCCTGCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTCCCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTGCCTCCCTCCCTC CCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTC CCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTC CCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PRPF31_chr19_54110754_54136713	54133762	C C	CCTCTCTC others(776): Show CCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCAC CTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTGTCC CTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCT CTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCA CCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCC CTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTC TCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCC TCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCT CCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	194	0.0052	783	c.23 others(794): Show c.2330_*2331insCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTC CCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCC CTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTC TCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCC TGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTC TCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2050		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133829	C C	CTTCCTCC others(776): Show CTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCTCCACCTC CCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCA CCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTGTCCC TCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTC TCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCT CTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCT CCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTC CTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGT CTCCACCTCCCCTCTCTCTCTGTCCCTCCCTCTCCACCTCCCCTCTCTCT CTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCC CTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACC TCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTC TCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	73	0.0137	783	c.23 others(794): Show c.2397_*2398insTTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTGT CCCTCCCTCTCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTC CCCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCC TCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCC TCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTC TGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCT CCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCT CTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTCTGTCCCTCCCTCTCC ACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCCCT CCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCT TCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCTCCCCT CTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCCTCTG	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2117		chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130392374	A A	ACGTGTGT others(776): Show ACGTGTGTCTGTCAGTTACCTGGTGAATATTGAGTGTTGTGATGACCCGG TCACCGTCATCACGTGTCCGTCAGTTACCTGGTAAATATTGAATGTTGTG ATGACCTGGTCACCGTCATCAAGTGTGTCCATCAGTTACCTGGTGAATAT TGAATGTTGTGATGACCCGGTCACCGTCATCATGTGTCCGTCAGTTACCT GGTAAATATTGAATGTTGTGATGACCTGGTCACCGTCATCAAGTGTGTCC ATCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCAT CACGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGT CACCGTCATCATGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGT GATGACCTGGTCACCGTCATCACGTGTGTCCATCAGTTACCTGGTGAATA TTGAATGTTGTGATGACCCGGTCACCGTCATCACGTGTCCGTCAGTTACC TGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCATCAAGTGTGTC CGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCCGGTCACCGTCA TCACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGTTGTGATGACCC GGTCACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGAATATTGAATGT TGTGATGACCCGGTCACCGTCATCACGTGTGTCCGTCAGTTACCTGGTGA ATATTGAATGTTGTGATGACCCGGTCACCGTCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	177	0.0056	783	c.49 others(794): Show c.4986_*4987insATGACGGTGACCGGGTCATCACAACATTCAATAT TCACCAGGTAACTGACGGACACACGTGATGACGGTGACCGGGTCATCACA ACATTCAATATTCACCAGGTAACTGACGGACACACGTGATGACGGTGACC GGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACACGTGA TGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGACG GACACACTTGATGACGGTGACCGGGTCATCACAACATTCAATATTCACCA GGTAACTGACGGACACGTGATGACGGTGACCGGGTCATCACAACATTCAA TATTCACCAGGTAACTGATGGACACACGTGATGACGGTGACCAGGTCATC ACAACATTCAATATTCACCAGGTAACTGACGGACACACATGATGACGGTG ACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGACGGACACGTG ATGACGGTGACCGGGTCATCACAACATTCAATATTCACCAGGTAACTGAT GGACACACTTGATGACGGTGACCAGGTCATCACAACATTCAATATTTACC AGGTAACTGACGGACACATGATGACGGTGACCGGGTCATCACAACATTCA ATATTCACCAGGTAACTGATGGACACACTTGATGACGGTGACCAGGTCAT CACAACATTCAATATTTACCAGGTAACTGACGGACACGTGATGACGGTGA CCGGGTCATCACAACACTCAATATTCACCAGGTAACTGACAGACACACG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding		3758		chr12	TogoVar
RPA3_chr7_7631518_7723607	7679092	T T	TATAAATA others(776): Show TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTATTTAGTT TATAAATACATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTATATATTTAGTTTATAAATACATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTAAT TTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATA AATATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATAT ATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTAT AGATAAATATATATTTATATATTTAGTTTATAGATAAATATATATTTATA TATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAA TATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAG TTTATAGATACATGTTTATATATTTAGTTTATAG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	129	0.0078	783	c.-75 others(802): Show c.-758+6737_-758+6738insCTATAAACTAAATATATAAACATGTA TCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATA AATATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAA ACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATAT ATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAACTAAAT ATATAAATATATATTTATCTATAAACTAAATATATAAATATATATTTATC TATAAACTAAATATATAAATATATATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATTTATCTATAAATTAAATATATAAATATATATTT ATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATAT AAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATA AATTAAATATATAAATATGTATTTATAAACTAAATATATAAATATGTATT TATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATATG TATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATA TATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATA TATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAAATATA TATTTAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(776): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ATATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18965.hp2 NA18988.hp1 others(1): Show NA18957.hp1 NA18965.hp2 NA18988.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0038	4	30	0.1333	783	c.-75 others(802): Show c.-758+6731_-758+6732insATTTATCTATAAATTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATAAACTAAATATATAAATATGTATTTAT AAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAATATGTAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAAATAT TTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATATATAT TTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAATATATAT TTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATAT ATATTTATAAACTAAATATATAAATATATATTTATAAACTAAATATATAA ATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTAAATAT ATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(776): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTC GGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0145 a0001c0009t0002g0145	1	105	0.0095	783	c.284 others(802): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(776): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGTCGG CCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18983.hp2 HG02258.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0148 a0001c0003t0002g0149 a0001c0003t0002g0148 a0001c0003t0002g0149	2	106	0.0189	783	c.284 others(802): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(776): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGC CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCC TGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCAGCCCCCCGCCCGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGG GGTCGGCCCCCCTGCCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	105	0.0095	783	c.284 others(802): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGG GCAGGGGGGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(776): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCCTCCCCACCCCCTCC CCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	40	0.0250	783	c.77- others(800): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCACCCCTTC CCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCCTCCCCACC CCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCT CCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(776): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCT TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC CCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCCTCCCCACCCCCTCC CCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCC CCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCC CCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	45	0.0222	783	c.22+ others(800): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC ACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCCCTCCCCACCCCTTC CCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCATCCCCTCCCCTCCCCCCCTCCCCACC CCCTCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCT CCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERINC2_chr1_31408213_31439678	31431787	T T	TAGGGTGG others(776): Show TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGTTAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGAGAG GGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGA GAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTA GGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0357 a0002c0002t0001g0357	1	343	0.0029	783	c.101 others(802): Show c.1014-1163_1014-1162insTAGGGTGGTTAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGT TAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAG GGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGT TAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGG TGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431885	A A	ATAGGATG others(776): Show ATAGGATGGTTAGGGTGGAGAGGGTGGAGAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGTCAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGATAGGGTGGACAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTG GACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG AGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAG AGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGT GGATAGGGTGGTTAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0150	1	352	0.0028	783	c.101 others(802): Show c.1014-1082_1014-1081insTAGGATGGTTAGGGTGGAGAGGGTGG AGAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTCAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA GAGGGTGGATAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAC AGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGT GGAGAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAGA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTG GAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGAGAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGAGAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAG AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGT GGAGAGGGTGGACAGGGTGGACAGGGTGGAGAGGGTGGAGAGGGTGGATA GGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431886	C C	CAGGGTGG others(776): Show CAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGG TGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGATGGTTAGGGT GGATAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0246 a0001c0003t0001g0246	1	181	0.0055	783	c.101 others(802): Show c.1014-1069_1014-1068insATGGTTAGGGTGGATAGGGTGGACAG GGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGG ATGGTTAGGGTGGATAGGGTGGACAGGGTGGTTAGGGTGGACAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGAT AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGT GGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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