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
FBN2_chr5_128252909_128543245	128539836	T T	TATGATAT others(622): Show TATGATATATATGATAGATCATATATTATATCATATATATCATATATATG AGATCATATATGATCTATCATATATATCATATCATATATATCATATCATT ATCATATATCACATATATCATATATCACATATATCACATATATCATATAT CACATATATCACATATATCATATATCACATATATCACATATATCATATAT ATCATATATCACATATATCATATATATCATATATTATATATATCATATAT CATATATATCATATATATCATATATATCATATATATCATATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATCATATATATCATATATATCATATATATTAT ATATCATATATATCATATATATTATATATCATATATCATATATATCATAT ATATTATATATCATATATCATATATATCATATATATTATATATCATATAT CATATATATCATATATATTATATATCATATATCATATATCATATATATCA TATATATTATATATCATATATCATATATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0048 a0002c0006t0004g0048	1	202	0.0050	629	c.-22 others(640): Show c.-2234_-2233insTGATATATGATATATGATATATAATATATATGAT ATATATGATATATGATATATGATATATAATATATATGATATATATGATAT ATGATATATAATATATATGATATATATGATATATGATATATAATATATAT GATATATATGATATATGATATATAATATATATGATATATATGATATATAA TATATATGATATATATGATATATATGATATATGATATATATGATATATAT GATATATGATATATATGATATATATGATATATGATATATATGATATATAT GATATATGATATATATGATATATATGATATATGATATATATGATATATAT GATATATATGATATATATGATATATATGATATATATGATATATATGATAT ATGATATATATAATATATGATATATATGATATATGTGATATATGATATAT ATGATATATGTGATATATGTGATATATGATATATGTGATATATGTGATAT ATGATATATGTGATATATGTGATATATGATATATGTGATATATGATAATG ATATGATATATATGATATGATATATATGATAGATCATATATGATCTCATA TATATGATATATATGATATAATATATGATCTATCATATATATCAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1592		chr5	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	28	0.0357	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATATTTATATGTATATAATATACAT ACATATATATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATATACATATAAATATATATGTATGT ATATTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATTTACATACATATA AATATATATTTACATACATATAAATATATACATTTATATACATATAAATA TATACATATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	28	0.0357	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATTTATATGTATATATGTATATATT TATATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATA TGTATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTA TATAAATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATATTTATATGTATATAAATATATATTTATATGTATATAAATATA TATATTTATATGTATATAAATATATATATTTATATGTATATAATATACAT ACATATATATTTATATGTATATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATGTATATTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTACATACATATAAA TATATACATATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	28	0.0357	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATATGTATATATTTA TATGTATGTAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAATATACATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATATAC others(622): Show GTATATACATATAAATATATATGTATGTATATTATATACATATAAATATA TATATTTATATACATATAAATATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01975.hp1 HG01358.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0120 a0002c0002t0002g0121	2	29	0.0690	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATATTTATATGTATATAAATATATATA TTTATATGTATATAATATACATACATATATATTTATATGTATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTACATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA19081.hp1 NA18991.hp2 NA19081.hp1	a0003 a0004 a0003 a0004	a0003c0010 a0004c0005 a0003c0010 a0004c0005	a0003c0010t0002 a0004c0005t0002 a0003c0010t0002 a0004c0005t0002	a0003c0010t0002g0262 a0004c0005t0002g0264 a0003c0010t0002g0262 a0004c0005t0002g0264	2	29	0.0690	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATG TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATACATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp2 HG04199.hp1 NA18953.hp1 others(2): Show HG04184.hp2 HG04199.hp1 NA18953.hp1 NA19066.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0002 a0001c0004t0002 a0002c0002t0002 a0001c0001t0002 a0001c0004t0002 a0002c0002t0002	a0001c0001t0002g0028 a0001c0001t0002g0075 a0001c0004t0002g0105 others(2): Show a0001c0001t0002g0028 a0001c0001t0002g0075 a0001c0004t0002g0105 a0001c0004t0002g0111 a0002c0002t0002g0109	5	32	0.1563	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATG TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATTTACATATATA TAAATATATATTTACATACATATAAATATATACATTTATATACATATAAA TATATACATATATACATATAAATATATATTTATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0199 a0003c0003t0002g0199	1	28	0.0357	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATAAATATATATTTATATGTATATATGTATATATTTA TATGTATATAAATGTATATATTTATATGTATGTAAATATATATTTATATA TATGTAAATATATATTTATATGTATATAAATATATATATTTATATGTATA TAAATATATATTTATATGTATATAAATATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999091	G G	GTATGTAT others(622): Show GTATGTATATTATATACATATAAATATATATATTTATATACATATAAATA TATATATTTATATACATATAAATATATATTTATATACATATAAATATATA TATTTATATACATATAAATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATTTACATACATATAAATATATATTTACATACATATAAATA TATACATTTATATACATATAAATATATACATATATACATATAAATATATA TTTATATACATATAAATATATATATTTATATATATTTATATATATATAAA TATATATATATTTGTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATATTTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATT TATATACATATAAATATAAATATTTATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0091 a0001c0001t0002g0091	1	28	0.0357	629	c.49 others(640): Show c.4960_*4961insAATATAAATATTTATATTTATATGTATATAAATT TATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATA TGTATATAATTATATATTTATATGTATATAATTATATATTTATATGTATA TAAATATATATTTATATGTATATATATATAAATATATATATATTTATATA TATATAAATATATATATATTTATATATATATACAAATATATATATATTTA TATATATATAAATATATATAAATATATATATTTATATGTATATAAATATA TATTTATATGTATATATGTATATATTTATATGTATATAAATGTATATATT TATATGTATGTAAATATATATTTATATGTATGTAAATATATATTTATATG TATATAAATATATATATTTATATGTATATAAATATATATTTATATGTATA TAAATATATATATTTATATGTATATAAATATATATTTATATGTATATAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAATATACATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4182		chr13	TogoVar
FOXK2_chr17_82514732_82609602	82586454	G G	GGGGAAAG others(622): Show GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGAGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGTGGGGAAAGGAGGAGAG GGGAGACCACAGGGAGGTGAAAGGTGGGCAGGGGGGGAAAGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTAGGCGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	280	0.0036	629	c.157 others(646): Show c.1576+257_1576+258insAAAGGAGGAGAGGGGAGACCACAGGGAG GTGAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT GAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTAGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAG GTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT AGGCAGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTG GGCAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGG CAGTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCA GTGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGG G	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(622): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCAGTCCGCACTGCCCCGCAACCCCCCCCACCCCGCTCACCTGCGCTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGC ACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACACCCCTCCCCGCT CACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCG CACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCAC CCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCGCTCA CCTGCAGTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCA CTGCCCCGCACCCCTCCCCGCTCACCTGCGCCCCGCACTGCCCCGCACCC CTCCCCGCTCACCTGCGGTCCGCACTGCCCCGCACCCCTCCCGGCTCACC TGCCCTCCGCACTGCCCCACACCCCTCCCCGCTCACCTGCGCTCCGCACT GCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCACACCCCT CCCGGCTCACCTGCGCTCCGCACTGCCCCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	332	0.0030	629	c.145 others(646): Show c.145+5165_145+5166insTGGGGCAGTGCGGAGCGCAGGTGAGCCG GGAGGGGTGTGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGG GCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGAGGG CAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACCGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGGGCGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGTGGGGCAGTGCGGACTGCA GGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAG GGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAG TGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGG TGAGCGGGGAGGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGG GTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTG CGGAGCGCAGGTGAGCGGGGTGGGGGGGGTTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGA G	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GAK_chr4_844277_937316	927307	G G	GTCCGCAC others(622): Show GTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCC CGCACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCG GCTCACCTGCCCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGT CCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCG CACCCCTCCCGGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCGGC TCACCTGCCCTCCGCACTGCCCCACACCCCTCCCGGCTCACCTGCGCTCC GCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCACA CCCCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTC ACCTGCGGTCCGCACTGCCCCGCACCCCTCCCAGCTCACCTGCCCTCCGC ACTGCCCCGCACCCCTCCCAGCTCACCTGCAGTCCGCACTGCCCCACACC CCTCCCGGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCGGCTCAC CTGCAGTCCGCACTGCCCCGCACCCCTCCCGGCTCACCTGCCCTCCGCAC TGCCCCACACCCCTCCCGGCTCACCTGCGC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	131	0.0076	629	c.145 others(646): Show c.145+4735_145+4736insGCGCAGGTGAGCCGGGAGGGGTGTGGGG CAGTGCGGAGGGCAGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGC AGGTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGA GGGGTGTGGGGCAGTGCGGACTGCAGGTGAGCTGGGAGGGGTGCGGGGCA GTGCGGAGGGCAGGTGAGCTGGGAGGGGTGCGGGGCAGTGCGGACCGCAG GTGAGCCGGGAGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGG GGTGTGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGT GCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGGAGGGCAGGT GAGCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGG TGCGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGC GGACTGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGAGGGCAGGTGA GCCGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCCGGGAGGGGTG CGGGGCAGTGCGGAGCGCAGGTGAGCCGGGAGGGGTGTGGGGCAGTGCGG A	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT17_chr7_71127144_71718599	71679943	T T	TCCTCCTC others(622): Show TCCTCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCCCTTCCTCCCTCCCG CTCTCTCTTCCTCCCTCCTGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT GTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCT TCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCT CTCCTTCCTCCCTCCCTCTCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0023 a0001c0005t0008g0023	1	67	0.0149	629	c.150 others(648): Show c.1500+2642_1500+2643insTCCCTCTCTCCCTTCCTCCTCCCTCT CTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCTGCTCTCTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCC CTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCT CTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCT CCCTCTCTCCCTTCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCTCTTC CTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCT CTCTCCCTTCCTCCCTCTCTCCTTCCTCCCTCCCTCTCTCCCTTCCTCCC TCC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
IFFO2_chr1_18899280_18961676	18926001	T T	TGGATGGA others(622): Show TGGATGGATGGCTGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATG GAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGA TGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTG GATGGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATTGGTTGGATGGATGGA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	355	0.0028	629	c.666 others(646): Show c.666-4881_666-4880insTCCATCCATCCAACCAATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAACCAATCCA TCCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCC TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCAT CCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAGCCATCCATC C	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322754	A A	ATGGAATA others(622): Show ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATGGAATATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATATGGAATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATGGAATATATATACATGGAATATATATACATGG AATATATATACATGGAATATATATACATGGAATATATATACATGGAATAT ATATACATGGAATATATACATGGAATATATATATGGAATGTTTATATGGA ATATATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	251	0.0040	629	c.-23 others(640): Show c.-2302_-2301insTGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATGGAATATATA TATATGGAATATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGAATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATGGAATATATATATATGGAATATATATATGGAATATATATACATGG AATATATATACATGGAATATATATACATGGAATATATATACATGGAATAT ATATACATGGAATATATATACATGGAATATATACATGGAATATATATATG GAATGTTTATATGGAATATATATATGGAATATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2215		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TAATATAT others(622): Show TAATATATATATATATGGAATATATATATACGGAATGTATATATAATATA TATATATGGAATATATATATACGGAATGTATATATAATATATATACGGAA TATATATATACGGAATGTATATATAATATATATACGGAATATATATATAC GGAATGTATATATAATATATATACGGAATATATATATACGGAATGTATAT ATAATATATATACGGAATATATATATACGGAATGTATATATAATATATAT ACGGAATATATATATACGGAATGTATATATAATATATATACGGAATATAT ATATACGGAATGTATATATAATATATATACGGAATATATATATACGGAAT GTATATATAATATATATACGGAATATATATATACGGAATGTATATATAAT ATATATACGGAATATATATATACGGAATGTATATATAATATATATACGGA ATATATATATACGGAATGTATATATAATATATATACGGAATGTATATATA CGGAATGTATATATATGGAATATATATACGGAATGTATATATATGGAATG TATATACGGAATGTATATATATGGAATGTATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	62	0.0161	629	c.-21 others(640): Show c.-2147_-2146insAATATATATATATATGGAATATATATATACGGAA TGTATATATAATATATATATATGGAATATATATATACGGAATGTATATAT AATATATATACGGAATATATATATACGGAATGTATATATAATATATATAC GGAATATATATATACGGAATGTATATATAATATATATACGGAATATATAT ATACGGAATGTATATATAATATATATACGGAATATATATATACGGAATGT ATATATAATATATATACGGAATATATATATACGGAATGTATATATAATAT ATATACGGAATATATATATACGGAATGTATATATAATATATATACGGAAT ATATATATACGGAATGTATATATAATATATATACGGAATATATATATACG GAATGTATATATAATATATATACGGAATATATATATACGGAATGTATATA TAATATATATACGGAATATATATATACGGAATGTATATATAATATATATA CGGAATGTATATATACGGAATGTATATATATGGAATATATATACGGAATG TATATATATGGAATGTATATACGGAATGTATATATATGGAATGTATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TACGGAAT others(622): Show TACGGAATATATATACGGAATGTATATACGGAATATATATACGGAATGTA TATACGGAATATATATACGGAATGTATATATACGGAATATATATATACGG AATGTATATATACGGAATGTATATATACGGAATATATATATACGGAATAT ATATACGGAATATATATATACGGAATATATATATACGGAATATATATATA CGGAATATATATATACGGAATATATATATACGGAATATATATATACGGAA TATATATATACGGAATATATATATACGGAATATATATATACGGAATATAT ATATACGGAATATATATATGGAATATATATATACGGAATATATATATGGA ATATATATATACGGAATATATATATGGAATATATATATACGGAATATATA TATATGGAATATATATATACGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATGTATATATGTGGAATGTATATATGTGGAAT GTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGG AATGTATATATGTGGAATGTATATATATGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0126 a0001c0001t0043g0126	1	62	0.0161	629	c.-21 others(640): Show c.-2147_-2146insACGGAATATATATACGGAATGTATATACGGAATA TATATACGGAATGTATATACGGAATATATATACGGAATGTATATATACGG AATATATATATACGGAATGTATATATACGGAATGTATATATACGGAATAT ATATATACGGAATATATATACGGAATATATATATACGGAATATATATATA CGGAATATATATATACGGAATATATATATACGGAATATATATATACGGAA TATATATATACGGAATATATATATACGGAATATATATATACGGAATATAT ATATACGGAATATATATATACGGAATATATATATGGAATATATATATACG GAATATATATATGGAATATATATATACGGAATATATATATGGAATATATA TATACGGAATATATATATATGGAATATATATATACGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATGTATATATGTGGAAT GTATATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATA TATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATATGT GGAATGTATATGTGGAATGTATATATGTGGAATGTATATATATGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
IGLON5_chr19_51306644_51335891	51310531	A A	AGGGTCTG others(622): Show AGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCCTGGGTCTGAGGGA GGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGGG GCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAG GGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGAACTGGGGAC CTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGGACCTGGACTCCTGGC TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAGGGTCTGAGGGAGGAG GAGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGACGAGGGGCTGGGGGCCTGGGCTCCAGGGTC TGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGG GCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG GCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGCCTGGACTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	365	0.0027	629	c.-13 others(640): Show c.-1317_-1316insGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACT CCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGG GAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGAGGAGGGGCTGG GGGCCTGGACTCCAGGGTCTGAGGGAGGAGGGACTGGGGACCTGGACTCC TGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTAGGTCTGAGGGA GGAGGAACTGGGGACCTGGACTCCTGGGCCTGAGGGAGGAGGGGCTGGGG ACCTGGACTCCTGGCTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCAG GGTCTGAGGGAGGAGGAGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGACGAGGGGCTGGGGGC CTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAG GGGCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGAGGGGCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCT	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		1112		chr19	TogoVar
INPP5D_chr2_233055342_233212903	233176499	G G	GGATGGAG others(622): Show GGATGGAGGGACGGATGGATGAATGGGTAGGTGGGTGGGCGGATGGGTGA ATGGGTAGGTGGGTGGGCGGATGGATGGATGGATGAGTAGATGGATGGAT GAACAGGAGAATGGGTGGATGGATGGATGGATGGATGAATGGATGAACAG ATGGTTGGATGGATGAATAGGCGAATGGATAGGTGGGTGGGTGGATGGAT GGATAGATGGATGGATGTGTGGGTGGGTGAATGGATGGATGGATGGGTGG ATAGGTGGATGAATGGATGAATAGATGGAAGGATGGATAGATGGATGGAT AGGTGAATGGGTAGGTGGGTGGGCAGATGGATGGATGGATGGATGGATGA GTAGATGAATGGATGAATAGGAGAATGGGTAGATGGGTGGGTGGATGGAT GGATGTGTGGGTGGGTGGAGGGAAGGATGGATGGATGGATAAATGGATGG ATAGGTGGATGGGTGGATGGAGGGATGGATGGATGGATAGGTAAATGGGT AGGTGGGTGGGCGGAGGGATGGATGGATGGATGGATGGATGGATGGATAG GTGAAGGTTAGATGGGTGGGGCGGAGGGATGGATGGATGGATGGATAGGT GGATGAATGGATGAATAGATGGATGGATGA	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0057 a0001c0001t0004g0057	1	74	0.0135	629	c.199 others(646): Show c.1990-766_1990-765insGATGGAGGGACGGATGGATGAATGGGTA GGTGGGTGGGCGGATGGGTGAATGGGTAGGTGGGTGGGCGGATGGATGGA TGGATGAGTAGATGGATGGATGAACAGGAGAATGGGTGGATGGATGGATG GATGGATGAATGGATGAACAGATGGTTGGATGGATGAATAGGCGAATGGA TAGGTGGGTGGGTGGATGGATGGATAGATGGATGGATGTGTGGGTGGGTG AATGGATGGATGGATGGGTGGATAGGTGGATGAATGGATGAATAGATGGA AGGATGGATAGATGGATGGATAGGTGAATGGGTAGGTGGGTGGGCAGATG GATGGATGGATGGATGGATGAGTAGATGAATGGATGAATAGGAGAATGGG TAGATGGGTGGGTGGATGGATGGATGTGTGGGTGGGTGGAGGGAAGGATG GATGGATGGATAAATGGATGGATAGGTGGATGGGTGGATGGAGGGATGGA TGGATGGATAGGTAAATGGGTAGGTGGGTGGGCGGAGGGATGGATGGATG GATGGATGGATGGATGGATAGGTGAAGGTTAGATGGGTGGGGCGGAGGGA TGGATGGATGGATGGATAGGTGGATGAATGGATGAATAGATGGATGGATG A	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26			chr2	TogoVar
INSR_chr19_7107265_7299414	7153470	A A	ACACACAC others(622): Show ACACACACCATACACGCACCACACACACACTACATGCACACCTCACACAC CACACCACACACCGCACACACACCACACAAATCACACACACACCACACAC ACCCACGCCACACACCACAGACCACACACACCACACACCCCACACACACC ACACACCACACACACCAAACACACCATACATGCACCACACAACCACATGC ACACCTCACACACCATACCACACACCACACACACCACACAAATCACACAC ATACTACACACACCCACGCCACACACCACACACACACCACACACGCCACA CAACGGACCACACATACACCACACACCACAAACACAACCACACACACACT ATACACACACACCACACACACCACACAACAGACCACACATACACACACCA CACACCACACACACCATACACACACACCACACATACCACACACACCACAC ACACAACCACACACACACACCACACACACAACACACAACAGACCACACAT ACACACACCACAAACACAACCACACACACCACACCATACACACACACCAT ACACGCACCACACACACACCACATACACACTTCACACACACCACACACCA CACAAATCACACACACCACCACACCCACGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00621.hp1 others(67): Show HG00099.hp1 HG00423.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01361.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01978.hp2 HG02004.hp1 HG02135.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02970.hp1 HG03017.hp1 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp2 NA18960.hp1 NA18985.hp2 NA18998.hp1 NA19002.hp1 NA19011.hp2 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0001c0024 a0001c0034 a0001c0044 a0001c0046 a0001c0051 a0001c0052 a0002c0020 a0004c0031 a0006c0035	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(55): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0038 a0001c0001t0050 a0001c0001t0067 a0001c0001t0070 a0001c0001t0081 a0001c0001t0086 a0001c0001t0111 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0036 a0001c0002t0083 a0001c0002t0108 a0001c0002t0114 a0001c0002t0170 a0001c0003t0001 a0001c0003t0003 a0001c0003t0066 a0001c0003t0132 a0001c0004t0068 a0001c0005t0002 a0001c0005t0043 a0001c0005t0104 a0001c0005t0121 a0001c0006t0011 a0001c0006t0075 a0001c0006t0166 a0001c0007t0001 a0001c0007t0120 a0001c0007t0137 a0001c0009t0001 a0001c0009t0003 a0001c0011t0001 a0001c0013t0017 a0001c0013t0135 a0001c0014t0034 a0001c0014t0136 a0001c0015t0001 a0001c0016t0003 a0001c0016t0056 a0001c0016t0057 a0001c0024t0023 a0001c0034t0003 a0001c0044t0003 a0001c0046t0158 a0001c0051t0014 a0001c0052t0157 a0002c0020t0001 a0004c0031t0106 a0006c0035t0131	a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0002g0012 others(67): Show a0001c0001t0001g0204 a0001c0001t0001g0225 a0001c0001t0002g0012 a0001c0001t0002g0038 a0001c0001t0007g0138 a0001c0001t0007g0226 a0001c0001t0007g0262 a0001c0001t0008g0196 a0001c0001t0009g0241 a0001c0001t0011g0058 a0001c0001t0014g0132 a0001c0001t0014g0175 a0001c0001t0015g0221 a0001c0001t0038g0165 a0001c0001t0038g0260 a0001c0001t0050g0020 a0001c0001t0067g0067 a0001c0001t0070g0053 a0001c0001t0081g0148 a0001c0001t0086g0223 a0001c0001t0111g0191 a0001c0002t0001g0129 a0001c0002t0001g0137 a0001c0002t0001g0139 a0001c0002t0002g0002 a0001c0002t0004g0258 a0001c0002t0036g0250 a0001c0002t0083g0224 a0001c0002t0108g0130 a0001c0002t0114g0203 a0001c0002t0170g0295 a0001c0003t0001g0230 a0001c0003t0003g0218 a0001c0003t0003g0280 a0001c0003t0066g0048 a0001c0003t0132g0197 a0001c0004t0068g0071 a0001c0005t0002g0064 a0001c0005t0043g0054 a0001c0005t0104g0136 a0001c0005t0121g0096 a0001c0006t0011g0001 a0001c0006t0075g0084 a0001c0006t0166g0296 a0001c0007t0001g0151 a0001c0007t0001g0267 a0001c0007t0001g0272 a0001c0007t0120g0163 a0001c0007t0137g0265 a0001c0009t0001g0269 a0001c0009t0003g0255 a0001c0011t0001g0211 a0001c0011t0001g0212 a0001c0013t0017g0279 a0001c0013t0135g0154 a0001c0014t0034g0152 a0001c0014t0136g0237 a0001c0015t0001g0184 a0001c0016t0003g0195 a0001c0016t0056g0029 a0001c0016t0057g0007 a0001c0024t0023g0030 a0001c0034t0003g0243 a0001c0044t0003g0274 a0001c0046t0158g0288 a0001c0051t0014g0214 a0001c0052t0157g0287 a0002c0020t0001g0206 a0004c0031t0106g0143 a0006c0035t0131g0161	70	293	0.2389	629	c.203 others(646): Show c.2030-544_2030-543insGCGTGGGTGTGGTGGTGTGTGTGATTTG TGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGCGT GTATGGTGTGTGTGTATGGTGTGGTGTGTGTGGTTGTGTTTGTGGTGTGT GTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGTGGTTGT GTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTG TGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGT ATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGT TGTGTGGCGTGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGTGTAGT ATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGT GTGCATGTGGTTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGGTGT GTGGTGTGTGTGGGGTGTGTGGTGTGTGTGGTCTGTGGTGTGTGGCGTGG GTGTGTGTGGTGTGTGTGTGATTTGTGTGGTGTGTGTGCGGTGTGTGGTG TGGTGTGTGAGGTGTGCATGTAGTGTGTGTGTGGTGCGTGTATGGTGTGT G	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
LHPP_chr10_124456823_124619141	124471506	A A	ATATATAA others(622): Show ATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATATT ACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTATAT ATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATGTA TATTTATATATATATTTATATATATTTATGTATATTTATATATATATTTA TATATATTTATGTATATTTATATATATATTTATATATATTTATGTATATT TATATATATTTATATATTTATGTCTATATTTATATATATTTATATATTTA TGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATGTA TTTATATATATTTATATATTTATATGTATTTATACATATATATTTATATG TATTTATATATATTTATATATATTTTTTATGTATTTATATATATTTATAT ATATATTTATATATATTTATATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATTTATATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0057 a0002c0002t0001g0057	1	64	0.0156	629	c.125 others(646): Show c.125+9520_125+9521insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTCTATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTATTTATATATATTTATATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATTTATATATATATTTATATATATTTATATATATTTATATATATAT T	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(622): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0038 a0003c0005t0002g0038	1	6	0.1667	629	c.368 others(646): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGG GTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTG GCCCGGTATGTAGTAAGTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCC CGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAA GTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGT G	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(622): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGGGGAAGGGAGGGGGGAGGGGAGGGGGAGGGAAGAG GGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGAGGGAAGGG AGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGGGAGGGGAG GGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGG GGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAG GGGGAGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0010 a0003c0003t0007g0010	1	8	0.1250	629	c.250 others(644): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTCCCT CCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCC CTCTTCCCTCCCCCTCCCCTCCCCCCTCCCTTCCCCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC CTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTC CCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCCTTTCCCCCCAC CCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTC CCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCC TTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPG_chr16_73225_90846	81854	G G	CGCGCTGA others(622): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATACTCCCCCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0090 a0001c0002t0001g0090	1	130	0.0077	629	c.301 others(646): Show c.301-1199_301-1198insCGCGCTGACCCCTTCTTCCCACCACCCT ACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCA CCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTT CTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTG ACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCC CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCAGGAAGCCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCGGCGCTGA CCCCTTCTTCCCACCACCCTATCTCCGGGAAGGCCTCCTGAATACTCCCC C	MPG	ENSG00000103152.12	transcript	ENST00000356432.8	protein_coding	2/3			chr16	TogoVar
MTERF3_chr8_96234402_96266610	96250610	T T	TGAGGAGG others(622): Show TGAGGAGGAGGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAG GAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGA AGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGG AGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAA GAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGA GGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAG AGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAG GAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAAGA GGAGGAAGAGGAGGAAGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAAGAAGAAGAAGAGGAAGAGGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	284	0.0035	629	c.677 others(644): Show c.677+295_677+296insTTCTTCTTCCTCTTCCTCTTCTTCTTCTTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCC TCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTC CTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCT CTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCC TCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTC TTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCT CCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCT TCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTC CTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTTCCTCCTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCCTCCTCCTC	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(622): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCA TATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATAT ATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	196	0.0051	629	c.-28 others(640): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(622): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTATGTA TACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATA TACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATA CACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACA CAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATATATACA CAGTATGTATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAG TATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATACA CTATACAGTATGTATACTGTATATATACACTATACAGTATGTATACTGTA TATATACACAATACAGTATGTATACTGTATATATACACAATACAGTATGT ATACTGTATATATACACAATACAGTATGTATACTGTATATATACACACAG TATGTATACTGTATATATACACACAGTATGTATACTGTATATATACACAC AGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0131 a0001c0001t0006g0131	1	118	0.0085	629	c.-75 others(648): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACTGT ATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTATA CATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATACAT ACTGTGTATATATACACAGTATACATACTGTGTATATATACGGTATACAT ACTGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATAC TGTGTATATATACGGTATACATACTGTGTATATATACGGTATACATACTG TGTATATATACGGTATACATACTGTGTATATATACGGTATACATACATAC AGTATACATACATACAGTATACATACATACAGTATACATGCTGTATACAG TATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124687570	T T	TTCCATAT others(622): Show TTCCATATATATACATACATGGTATATATTCCATATATATACATACATGG TATATATTCCATATATATACATACATGGTATATATTCCATATATATACAT ACATGGTATATATTCCATATATACATACATGGTATATATTCCTATATATA CATACATGGTATATATTCCATATATATACATACATGGTATATATTCCATA TATATATATACATACATGGTATATATACATACATGGTATATATTCCTATA TATACATACATGGTATATATTCCATATATATATACATACATGGTATATAT TCCATATATATACATACATGGAATATATATATTCCATATATACATATATA TATTCCATATATACACATATATATATTCCATATATACACATATACATGGA ATATATATCTGTATATATATGGAATATATATATATGTATATATATGGAAT ATATATGTATATGTATTTATATTATGTATTTATATTATAAATATATATTA TGTATATATATTTATATTATAAATATATATTATGTATATATATTTATATT ATAAATATATATTATGTATATATATTTATATTATAAATATATATTATGTA TATATATTTATATTATAAATATATATTATG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0020 a0001c0002t0005g0020	1	36	0.0278	629	c.474 others(648): Show c.474+29184_474+29185insTCCATATATATACATACATGGTATAT ATTCCATATATATACATACATGGTATATATTCCATATATATACATACATG GTATATATTCCATATATATACATACATGGTATATATTCCATATATACATA CATGGTATATATTCCTATATATACATACATGGTATATATTCCATATATAT ACATACATGGTATATATTCCATATATATATATACATACATGGTATATATA CATACATGGTATATATTCCTATATATACATACATGGTATATATTCCATAT ATATATACATACATGGTATATATTCCATATATATACATACATGGAATATA TATATTCCATATATACATATATATATTCCATATATACACATATATATATT CCATATATACACATATACATGGAATATATATCTGTATATATATGGAATAT ATATATATGTATATATATGGAATATATATGTATATGTATTTATATTATGT ATTTATATTATAAATATATATTATGTATATATATTTATATTATAAATATA TATTATGTATATATATTTATATTATAAATATATATTATGTATATATATTT ATATTATAAATATATATTATGTATATATATTTATATTATAAATATATATT ATG	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	4/6			chr6	TogoVar
NME4_chr16_392199_405754	397726	C C	CGGGGGGT others(622): Show CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGGTGAGGGAGTCGGGGGGTGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	313	0.0032	629	c.91+ others(642): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGTG AGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NPRL3_chr16_80386_143673	81854	G G	CGCGCTGA others(622): Show CGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAA TGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCC TCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGG GAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTA CCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCAC CACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGACCCCTTC TTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCCGCGCTGA CCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAATGCTCCCC GCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGGAAGGCCTCCTGAAT GCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCAGGAAGCCCT CCTGAATGCTCCCCGCGCTGACCCCTTCTTCCCACCACCCTACCTCCGGG AAGGCCTCCTGAATGCTCCCGGCGCTGACCCCTTCTTCCCACCACCCTAT CTCCGGGAAGGCCTCCTGAATACTCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0019 a0003c0003t0019	a0003c0003t0019g0347 a0003c0003t0019g0347	1	105	0.0095	629	c.48 others(640): Show c.4851_*4852insGGGGGAGTATTCAGGAGGCCTTCCCGGAGATAGG GTGGTGGGAAGAAGGGGTCAGCGCCGGGAGCATTCAGGAGGCCTTCCCGG AGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGGC TTCCTGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCA GGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGA GCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGC GCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGG GGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGGTGGTGGG AAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGAGGTAGGG TGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCTTCCCGGA GGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAGGAGGCCT TCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCGGGGAGCATTCAG GAGGCCTTCCCGGAGGTAGGGTGGTGGGAAGAAGGGGTCAGCGCG	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding		3532		chr16	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(622): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGTTT TAAACTAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACT ATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTAT AGTTTATATAGTTTAAAACTATATAGTTTATATAGTTTAAAACTATATAG TTTATATAGTTTAAAACTATAGTTTATATAGTTTAAAACTATATAGTTTA TATAGTTTTAAACTATATAGTTTAAACTATATAGTTTTAAACTATATAAA CTATATAGTTTTAAACTAGTTTATATATAGTTTTAAACTAGTTTAAACTA TATAGTTTATGTAGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATA TAGTTTATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAAC TATATAGTTTTAAACTATGTAGTTTTAAACTATATAGTTCATGTAGTTTT AAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTTAAACTAGTTTA TATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02615.hp2 HG02723.hp2 others(3): Show HG02055.hp1 HG02615.hp2 HG02723.hp2 NA18522.hp1 NA19030.hp1 NA19240.hp1	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0001 a0002c0007t0001 a0002c0001t0001 a0002c0007t0001	a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 others(3): Show a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0007t0001g0205	6	43	0.1395	629	c.342 others(648): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAA ACTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAAC TATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTAT ATAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAAC TATATAAACTATATAGTTTTAAACTATATAAACTATAGTTTTAAACTATA TAAACTATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATA AACTATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACT ATATAGTTTTAAACTATATAAACTATATAGTTTTAAACTATATAAACTAG TTTAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTT TAAAACTATATATAAACTATATAGTTTAAAACTATAAACTATATAGTTTA AAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(622): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGAGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	59	0.0169	629	c.155 others(648): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCTCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(622): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCC CGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAG CCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 NA18983.hp1 HG03688.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0010 a0001c0001t0002 a0001c0003t0010	a0001c0001t0002g0060 a0001c0003t0010g0096 a0001c0001t0002g0060 a0001c0003t0010g0096	2	60	0.0333	629	c.155 others(648): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCCC GGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTG GACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCC CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(622): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCC GTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAG TCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0091 a0001c0003t0010g0091	1	59	0.0169	629	c.155 others(648): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTCC CGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCT GGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCC CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(622): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGG GGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCG TCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCTCGTCCGGGAGGGGGGAGGGGGGGGTCAGC CCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	59	0.0169	629	c.155 others(648): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GGGGGCTGACCCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCCTC CCGGACTGGGCGGCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCC TGGACGGGGCGACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACC CCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(622): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTC TCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCC CTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCC CCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCT CCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCC TTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTC TCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTT CCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCT CCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTC CCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCCTCCCTCTCTCCCCCTC CTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0026 a0004c0010t0026	a0004c0010t0026g0122 a0004c0010t0026g0122	1	62	0.0161	629	c.439 others(648): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCT CCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCT CCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTC CCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCT TTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCT TCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTC TTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTC CCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTC TCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCC CCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCCTC TCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(622): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCAC CTCTTCCTGTACCACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCC CCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGT ACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCAT CTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTAT ACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTGCACTCCCATCT CCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCC TCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG01258.hp1 HG00323.hp2 HG01256.hp1 HG01258.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0010 a0001c0002 a0005c0010	a0001c0002t0002 a0005c0010t0005 a0001c0002t0002 a0005c0010t0005	a0001c0002t0002g0146 a0001c0002t0002g0151 a0005c0010t0005g0083 a0001c0002t0002g0146 a0001c0002t0002g0151 a0005c0010t0005g0083	3	149	0.0201	629	c.139 others(648): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTAC CCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCC TTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCT CACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTG CACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCC CTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAD21L1_chr20_1221044_1260876	1258877	T T	TGTTTCCT others(622): Show TGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAA ACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTC TTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTT GGGGTCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCT AGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGC TCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAATAC AAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGGTTTGGGATCTTCCC TCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGAT TTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTAATATAAACACATAAA GCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAAT ATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTC CCTCTTTTCTAATACAAACACATAAAGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01516.hp2 HG03704.hp2 others(2): Show HG00738.hp2 HG01516.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0142 a0002c0002t0003g0063 a0002c0002t0003g0064 others(2): Show a0001c0001t0001g0142 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066	5	353	0.0142	629	c.44 others(640): Show c.4420_*4421insGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCC TCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGAT TTGAGATCTTCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTT CTAGGTAACTGATTTGGGGTCTTCCCTCTTTTCTAATATAAACACATAAA GCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTCCCTCTTTTCTAAT ATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCTTC CCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTG GTTTGGGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTCTGTTTCC TTCTAGGTAACTGATTTGGGATCTTCCCTCTTTTCTAATACAAACACATA AAGCTCTGTTTCCTTCTAGGTAACTGGTTTGAGATCTTCCCTCTTTTCTA ATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAACTGATTTGAGATCT TCCCTCTTTTCTAATATAAACACATAAAGCTCTGTTTCCTTCTAGGTAAC TGATTTGAGATCTTCCCTCTTTTCTAATACAAACACATAAAGCTC	RAD21L1	ENSG00000244588.6	transcript	ENST00000683101.1	protein_coding		3002		chr20	TogoVar
RASGRF1_chr15_78954906_79095780	78993266	T T	TATGTGTG others(622): Show TATGTGTGGTGTGTGTGTGGTGTGTGCGTGTGTGGTATCTGTGGTGTGTA TGTGTGTGTGGTGTATGCCTGTATTGGTGATGTGTGTGTACGTGGTGTGT GTGGTGTAATTTGGTGTGTATGTGGTGTGTGTGTGGTGTGTGTGTGTGTA TGTGTATGTGTGGTGTGGTGTGTGTGTATGTGGTATGTGAGTGTTCTGTG CGTGGAGTGTGTGTGGTGTGGTGTGGTATGTGGTGTGTGTGTGTGTGTGT GTGTGCGTGCCTGTGGGTGATGTATGTGGTGTATGTGGTGTGTGTGTGCA TGGTATCTGTGGTATGTGTGTGTGGTGTGTGTGGTGTGCACCTGTGTGGG TGGTGTGTGTGTGTATGTGGTGTGTGTATGTGTGTGTGGGGTATGTGGTG TTGTATCTGTGGTGTATGTGTGGTGTGTGTGTATGTATGTGGTGTGTGAG TGCTGTGTTCGTGAAGTGTGTGTAGCGTGTGTGTGGTGTGATGTGTGTGT TGTGTGTGGTGTGATGTGTGTGTTGTGTGTGTGGTGCATGTGTGTTTGCT GGGTGTGTTTTCTGCGTGGCATATGTGTTTGTGCTTGTTTGCTGGGTGTG TGGTGTACGTGTGTTTGCTGGGTGTGTTTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02717.hp1 HG02886.hp1 HG01496.hp2 HG02717.hp1 HG02886.hp1	a0001 a0001	a0001c0007 a0001c0015 a0001c0007 a0001c0015	a0001c0007t0004 a0001c0007t0008 a0001c0015t0003 a0001c0007t0004 a0001c0007t0008 a0001c0015t0003	a0001c0007t0004g0017 a0001c0007t0008g0279 a0001c0015t0003g0125 a0001c0007t0004g0017 a0001c0007t0008g0279 a0001c0015t0003g0125	3	244	0.0123	629	c.302 others(648): Show c.3028-1473_3028-1472insCAAACACACCCAGCAAACACACGTAC ACCACACACCCAGCAAACAAGCACAAACACATATGCCACGCAGAAAACAC ACCCAGCAAACACACATGCACCACACACACAACACACACATCACACCACA CACAACACACACATCACACCACACACACGCTACACACACTTCACGAACAC AGCACTCACACACCACATACATACACACACACCACACATACACCACAGAT ACAACACCACATACCCCACACACACATACACACACCACATACACACACAC ACCACCCACACAGGTGCACACCACACACACCACACACACATACCACAGAT ACCATGCACACACACACCACATACACCACATACATCACCCACAGGCACGC ACACACACACACACACACACACCACATACCACACCACACCACACACACTC CACGCACAGAACACTCACATACCACATACACACACACCACACCACACATA CACATACACACACACACACCACACACACACCACATACACACCAAATTACA CCACACACACCACGTACACACACATCACCAATACAGGCATACACCACACA CACATACACACCACAGATACCACACACGCACACACCACACACACACCACA CAT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	20/26			chr15	TogoVar
RASGRF1_chr15_78954906_79095780	78993266	T T	TATGTGTG others(622): Show TATGTGTGGTGTGTGTGTGGTGTGTGCGTGTGTGGTATCTGTGGTGTGTA TGTGTGTGTGGTGTATGCCTGTATTGGTGATGTGTGTGTACGTGGTGTGT GTGGTGTAATTTGGTGTGTATGTGGTGTGTGTGTGGTGTGTGTGTGTGTA TGTGTATGTGTGGTGTGGTGTGTGTGTATGTGGTATGTGAGTGTTCTGTG CGTGGAGTGTGTGTGGTGTGGTGTGGTATGTGGTGTGTGTGTGTGTGTGT GTGTGCGTGCCTGTGGGTGATGTATGTGGTGTATGTGGTGTGTGTGTGCA TGGTATCTGTGGTATGTGTGTGTGGTGTGTGTGGTGTGCACCTGTGTGGG TGGTGTGTGTGTGTATGTGGTGTGTGTATGTGTGTGTGGGGTATGTGGTG TTGTATCTGTGGTGTATGTGTGGTGTGTGTGTATGTATGTGGTGTGTGAG TGCTGTGTTCGTGAAGTGTGTGTAGCGTGTGTGTGGTGTGATGTGTGTGT TGTGTGTGGTGTGATGTGTGTGTTGTGTGTGTGGTGCATGTGTGTTTGCT GGGTGTGTTTTCTGCGTGGCATATGTGTTTGTGTTTGTTTGCTGGGTGTG TGGTGTACGTGTGTTTGCTGGGTGTGTTTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0122 a0001c0002t0009g0122	1	242	0.0041	629	c.302 others(648): Show c.3028-1473_3028-1472insCAAACACACCCAGCAAACACACGTAC ACCACACACCCAGCAAACAAACACAAACACATATGCCACGCAGAAAACAC ACCCAGCAAACACACATGCACCACACACACAACACACACATCACACCACA CACAACACACACATCACACCACACACACGCTACACACACTTCACGAACAC AGCACTCACACACCACATACATACACACACACCACACATACACCACAGAT ACAACACCACATACCCCACACACACATACACACACCACATACACACACAC ACCACCCACACAGGTGCACACCACACACACCACACACACATACCACAGAT ACCATGCACACACACACCACATACACCACATACATCACCCACAGGCACGC ACACACACACACACACACACACCACATACCACACCACACCACACACACTC CACGCACAGAACACTCACATACCACATACACACACACCACACCACACATA CACATACACACACACACACCACACACACACCACATACACACCAAATTACA CCACACACACCACGTACACACACATCACCAATACAGGCATACACCACACA CACATACACACCACAGATACCACACACGCACACACCACACACACACCACA CAT	RASGRF1	ENSG00000058335.16	transcript	ENST00000558480.7	protein_coding	20/26			chr15	TogoVar
RBFOX3_chr17_79084345_79616051	79554390	C C	CACCTGGC others(622): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCT TCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGTCA CCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	149	0.0067	629	c.-32 others(650): Show c.-320+56435_-320+56436insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554427	C C	CACCTGGC others(622): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	144	0.0069	629	c.-32 others(650): Show c.-320+56398_-320+56399insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(622): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	79	0.0127	629	c.-32 others(650): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT CGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGG GGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RGS11_chr16_263307_280944	267540	C C	CATGCATG others(622): Show CATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCACAC GTGCTATGCATACACACCACACGTGTGCCTCACAGTGCTACACATGCCTC ATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCTGC ACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACGTG TGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACACCA CACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATCAC ACATGCTATGTGTACACACCACACGTGTGCCTCACAGTGCTACACATGCC TCATACACATGACACGTGCACACACCACATATGCATGCCTCAGTACACCT GCACACGTGCACTAAACACAATCACACATGCTATGCGTACACACCACACG TGTGCCTCTCAGTGCTACACATGCATCCTACACGACACGTGCACACACAC CACACATGCATGCCTCACAGTACACCTGCACACGTGCACTACACACAATC ACACATGCTATGTGTACACACCACACGTGTGCCTCAGTGCTACACATGCC TCATACACACGACACGTGCACACACCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0004 a0009c0021t0004	a0009c0021t0004g0057 a0009c0021t0004g0057	1	260	0.0038	629	c.17 others(640): Show c.1728_*1729insATGTGGTGTGTGCACGTGTCGTGTGTATGAGGCA TGTGTAGCACTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGATT GTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGTGT GTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGAGAGGCACACGTG TGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAGGT GTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGGCA TGTGTAGCACTGTGAGGCACACGTGTGGTGTGTACACATAGCATGTGTGA TTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCATGTGTGGT GTGTGTGCACGTGTCGTGTAGGATGCATGTGTAGCACTGAGAGGCACACG TGTGGTGTGTACGCATAGCATGTGTGATTGTGTTTAGTGCACGTGTGCAG GTGTACTGAGGCATGCATATGTGGTGTGTGCACGTGTCATGTGTATGAGG CATGTGTAGCACTGTGAGGCACACGTGTGGTGTGTATGCATAGCACGTGT GATTGTGTGTAGTGCACGTGTGCAGGTGTACTGTGAGGCATGCAT	RGS11	ENSG00000076344.16	transcript	ENST00000397770.8	protein_coding		766		chr16	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(622): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTATATAT TTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATTTAT ATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATAT TTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATTTAC ATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACATAT TTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATAC ATATTTATATATTTAGTTTATAAATACATATTTATATATTTAATTTATAG ATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATATA TTTAATTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATA TATATTTATATATTTAGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	27	0.0370	629	c.-75 others(648): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATGTATTTATAAACTAAATATATAA ATATGTATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATAT GTAAATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATATGTAAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAA ATAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAA ATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAA ATATATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAA CTAAATATATAAATATATATTTATAAACTAAATATATAAATATATATTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(622): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCAT CCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCC ACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCAC CCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCAT CCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCC ATCCACTCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACAC CTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTAC CCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCAT CCATCCACCCACCCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0255 a0002c0001t0001g0255	1	8	0.1250	629	c.937 others(646): Show c.937-1228_937-1227insCCATCCATCCACTCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCCATCCACCC ACCCACACACACACCTATCCATCCATCCACCCATCCACCCATCCACCCAT CCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCCACCCATCC ACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCACCTACCCACCCACACACCCATCCATCCATCC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAC TCATCCATCCATCCATCCGTCCATCCACCCACCCACACACACACCTATCC ATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATTCATTCATCCATCCATCCATCCATCTACCCATCC ACCCACCCACCCACACACCTATCCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCC ACCCACCCCACCCACCCACCCATCCATCCATCCATCCATCCATCCATCCA T	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(622): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC CTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0039 a0001c0005t0046g0039	1	40	0.0250	629	c.77- others(646): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCACCCCCTCCCC ATCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCC C	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(622): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTAC CTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCTCCCCTC CCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC CTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCA CCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0102 a0001c0006t0029g0102	1	45	0.0222	629	c.22+ others(646): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCCCTCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCT CCCCTCCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCACCCCCTCCCCCCCT CCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCCCTCCCCACCCCCTCCCC ATCCCCCTCCCCTCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCCTCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCCC TCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCC C	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SMYD3_chr1_245744347_246512279	246243972	G G	GGCTGAAG others(622): Show GGCTGAAGCAGGAGGATCACCTGAGGCTAGGAGTTTGAAGCCACGGTCTG CTATGATCATACCACAGTATTCTAAAGCCCAGGCAACACAGTGAAACCCC ACTGCTTACCCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGCTGGT CTCAGTGGCTCATGCCTGTAATCCTTGCATATCTTGGGATGGCAAGGAGG GAGCATCACTTGAGCCCAGGAGTTCAAAACCAGCCTGGGCAACACACTGA GATTCCATCTCTCATTAAAATATTAGCTGGGTGCGATGGTGCATGCCTGC AGTCCCAGCTACTCCAGAGTCTGAGGTGGCAGGATTGCTTGAGCCCAGGA AGTCAAGGCTACAGTGAGCTGTGTTATTGCCACTGCACTCCAGCCAAGGT GACCACAGCAAGACTCTGTCTCCAAAAAAAAAAAAAAAAGGCCAACCAAT TTCCCAATCTAATGTGAAATATAAACTGAAGTGTAGCCTGTCATTTTTAA AAACTTCATACTCTATACATGCATACTTTTTGGTAATCAAATTTATAACG TGTGTCTAGGCAACCACACATTCAACAGACTACCACGACAGATTTTGCCT AGCACTGTGGTTTAAGAGAAGGATAACTAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01109.hp2 HG01934.hp1 others(9): Show HG00423.hp1 HG01109.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG02273.hp2 HG02280.hp2 HG03579.hp1 NA18962.hp1 NA18971.hp1 NA19088.hp1 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(3): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001	a0001c0001t0001g0023 a0001c0001t0001g0088 a0001c0001t0001g0089 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0030 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0002g0040 a0001c0012t0002g0057 a0002c0003t0001g0148 a0002c0003t0002g0110 a0002c0004t0001g0138 a0002c0005t0001g0115	12	109	0.1101	629	c.531 others(648): Show c.531+83228_531+83229insATAGTTATCCTTCTCTTAAACCACAG TGCTAGGCAAAATCTGTCGTGGTAGTCTGTTGAATGTGTGGTTGCCTAGA CACACGTTATAAATTTGATTACCAAAAAGTATGCATGTATAGAGTATGAA GTTTTTAAAAATGACAGGCTACACTTCAGTTTATATTTCACATTAGATTG GGAAATTGGTTGGCCTTTTTTTTTTTTTTTTGGAGACAGAGTCTTGCTGT GGTCACCTTGGCTGGAGTGCAGTGGCAATAACACAGCTCACTGTAGCCTT GACTTCCTGGGCTCAAGCAATCCTGCCACCTCAGACTCTGGAGTAGCTGG GACTGCAGGCATGCACCATCGCACCCAGCTAATATTTTAATGAGAGATGG AATCTCAGTGTGTTGCCCAGGCTGGTTTTGAACTCCTGGGCTCAAGTGAT GCTCCCTCCTTGCCATCCCAAGATATGCAAGGATTACAGGCATGAGCCAC TGAGACCAGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGGTAAG CAGTGGGGTTTCACTGTGTTGCCTGGGCTTTAGAATACTGTGGTATGATC ATAGCAGACCGTGGCTTCAAACTCCTAGCCTCAGGTGATCCTCCTGCTTC AGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(622): Show TGGGGGGGGCCCAGCGGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGA GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGA GTTGCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGCCCAGCGGG GGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCG GGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	80	0.0125	629	c.64 others(640): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACT CCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGC CCCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGCAACTCCA CCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCC CCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCAGGCAACTCCACCCCCCGCTGGGCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar

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