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
FARS2_chr6_5256513_5776583	5256708	G G	GCCCTGTG others(738): Show GCCCTGTGATTAACTACCTCTGCTGGGCATCCCAGGGGAAATTTACACCC AAGATACCCTAAATATGAACTAAAAAACCCTCTCTCCACAAGACCAGCTA GTTCTGTATTACCTGAGTCAGTTAATGGTGCAAGTTTAAATTCACCCTCT CTGTGCTTTAGCTTAACCAGAAACCTGGATGCCATTCTAGACTCTGCTTG GATTCTCTTCTTCCTTAGTCCTCAATCCAATCATTCCAGTTCCAACAATT TTCCCTTCTAATGATTTATCAAATACAACATTCTTCTCTATCTTCCACTA TTCCTGTCCTTACTAGCGTCCTAATCTCACAGGCAGCCACTAACCTGACA TGACCAGATTTGCATTTTCTGATAGATCACTCTGGCAGCAGTGTAGAAGA TGATTTTGAGGGGCCAAGGACATCAAATGGGGAGTTGATTACAACAGTGC AGAGTAGAGATTAGGACGCTAGTAAGGACAGGAATAGTGGAAGATAGAGA AGAATGTTGTATTTGATAAATCATTAGAAGGGAAAATTGTTGAACTGGAA TGATTGGATTGAGGACTAAGGAAGAAGAGAATCCAAGCAGAGTCTAGAAT GGCATCCAGGTTTCTGGTTAAGCTAAAGCACAGAGAGGGTGAATTTAAAC TTGCACCATTAACTGACTCAGGTAATACAGAACTAGCTGGTCTTGTGGAG AGAGGGTTTTTTAGTTCATATTTAGGGTATCTTGGGTGTAAATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	170	0.0059	745	c.-49 others(756): Show c.-4974_-4973insCCCTGTGATTAACTACCTCTGCTGGGCATCCCAG GGGAAATTTACACCCAAGATACCCTAAATATGAACTAAAAAACCCTCTCT CCACAAGACCAGCTAGTTCTGTATTACCTGAGTCAGTTAATGGTGCAAGT TTAAATTCACCCTCTCTGTGCTTTAGCTTAACCAGAAACCTGGATGCCAT TCTAGACTCTGCTTGGATTCTCTTCTTCCTTAGTCCTCAATCCAATCATT CCAGTTCCAACAATTTTCCCTTCTAATGATTTATCAAATACAACATTCTT CTCTATCTTCCACTATTCCTGTCCTTACTAGCGTCCTAATCTCACAGGCA GCCACTAACCTGACATGACCAGATTTGCATTTTCTGATAGATCACTCTGG CAGCAGTGTAGAAGATGATTTTGAGGGGCCAAGGACATCAAATGGGGAGT TGATTACAACAGTGCAGAGTAGAGATTAGGACGCTAGTAAGGACAGGAAT AGTGGAAGATAGAGAAGAATGTTGTATTTGATAAATCATTAGAAGGGAAA ATTGTTGAACTGGAATGATTGGATTGAGGACTAAGGAAGAAGAGAATCCA AGCAGAGTCTAGAATGGCATCCAGGTTTCTGGTTAAGCTAAAGCACAGAG AGGGTGAATTTAAACTTGCACCATTAACTGACTCAGGTAATACAGAACTA GCTGGTCTTGTGGAGAGAGGGTTTTTTAGTTCATATTTAGGGTATCTTGG GTGTAAATTTC	FARS2	ENSG00000145982.13	transcript	ENST00000274680.9	protein_coding		4804		chr6	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(738): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATTTATATGTATATACATATATATATGTATATACATAT ATATATATGTATATACATATAAATATATATGTATATACATATAAATATAT ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATGTATATTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATATT TATATACATATAAATATATATATTTATATACATATAAATATATATATTTA TATACATATAAATATATATATTTATATACATATAAATATATATTTATATA CATATAAATATATATTTATATACATATAAATATATATTTACATACATATA AATATATATTTACATACATATAAATATATACATTTATATACATATAAATA TATACATATATACATATAAATATATATTTATATACATATAAATATATATA TTTATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	292	0.0034	745	c.51 others(756): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATA TTTATATGTATATAAATATATATATTTATATGTATATAAATATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAATATACATACATATAT ATTTATATGTATATACATATATATTTATATGTATATACATATATATTTAT ATGTATATACATATATATTTATATGTATATACATATATATTTATATGTAT ATACATATATATATATGTATATACATATATATATGTATATACATATAAAT ATATATGTATATACATATATATATGTATATACATATATATTTATATGTAT ATACATATATATTTATATGTATATACATATATTTATATGTATATACATAT ATATTTATATGTATATAAATATATATTTATATGCATATAAATATATATGT ATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FLT3_chr13_27998274_28105576	27999085	A A	ATGTATAT others(738): Show ATGTATATACATATATATATATGTATATACATATATATATGTATATACAT ATATATATATGTATATACATATAAATATATATGTATATACATATAAATAT ATATGTATATACATATAAATATATATGTATATACATATAAATATATATGT ATATACATATAAATATATATGTATGTATATTATATACATATAAATATATA TATTTATATACATATAAATATATATATTTATATACATATAAATATATATA TTTATATACATATAAATATATATATTTATATACATATAAATATATATTTA TATACATATAAATATATATTTATATACATATAAATATATATTTATATACA TATAAATATATATTTACATACATATAAATATATATTTACATACATATAAA TATATACATTTATATACATATAAATATATACATATATACATATAAATATA TATTTATATACATATAAATATATATATTTATATATATTTATATATATATA AATATATATATATTTATATATATATAAATATATATATATTTATATATATA TAAATATATATATATTTATATATATATACATATAAATATATAATTATATA CATATAAATATATAATTATATACATATAAATATATAATTATATACATATA AATATATATAATTATATACATATAAATATATATTTATATACATATAAATA TATATTTATATACATATAAATTTATATACATATAAATATAAATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18946.hp1 NA19074.hp1 NA18946.hp1 NA19074.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0197 a0004c0005t0001g0254 a0004c0005t0001g0197 a0004c0005t0001g0254	2	292	0.0069	745	c.49 others(756): Show c.4966_*4967insAATATTTATATTTATATGTATATAAATTTATATG TATATAAATATATATTTATATGTATATAAATATATATTTATATGTATATA ATTATATATATTTATATGTATATAATTATATATTTATATGTATATAATTA TATATTTATATGTATATAATTATATATTTATATGTATATATATATAAATA TATATATATTTATATATATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATAAATATATATATTTATA TGTATATAAATATATATTTATATGTATATATGTATATATTTATATGTATA TAAATGTATATATTTATATGTATGTAAATATATATTTATATGTATGTAAA TATATATTTATATGTATATAAATATATATTTATATGTATATAAATATATA TTTATATGTATATAAATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAATATACATACATATATAT TTATATGTATATACATATATATTTATATGTATATACATATATATTTATAT GTATATACATATATATTTATATGTATATACATATATATTTATATGTATAT ACATATATATATATGTATATACATATATATATGTATATACATATATATAT ATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4188		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(738): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTTCCTCCCCTTTCC CCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCCTTTCCCCCCT CTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCC CTCTCCCTCCCTCCCCTTCCCCCCTCTCCCTCCCTACCCTCTCTCCCCCC TCTCCCTCCCTCCCCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCC TCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCTCTCTCCCCC CTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCCCCTTTCTCCCTC TCTCTCCCTCCCCCTTTCTCCTTCCCCGCTCCCTCTCTCCCCTTTCTCCC TCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCT TCCTCCCTGTCTCCCCCTCTCCCCCCCCTCTCCTTCTCTCCCCCCTCTCC CTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCCCCCCCCTCTCTCC CCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCC CACCTCCTTCTCCCTCTCTCCCCCCCCTTTCCCTCCCTCTCCCTCTCTCT CCCTCTCCCCCCTCCCCCTCTCCCTCTCCCCCTCCCTCTTTCCCCCCTTT CCTTCCTCCCCTCTCTCCCACCCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	230	0.0044	745	c.126 others(762): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGGA GAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGA GGGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGGAGAGAGGGCAGGGGGA GAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGGAG AGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGG GAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGGAAGGA GAAAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAG AAAGAGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGG GAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGG TGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGG AAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGA GAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGA GGGGAGGGAGGGAGAGGGGGAAAGGGGAGGAAGAGGGGGGAAAGGGGAGG GAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(738): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCC CCTTCCCCCCCTCCCTCCCTACCCTCTCTCCCCCCCTCTCCCTCCCTCCC CTCTCACCCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTC CCTCTCCCTCCCTCCCTCTCCCTCTCTCCCCCTCTCCCCCTCTCCCTCTT TCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCT CTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCC CCTCTTTCTCCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCT CCCCCTCCCTCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTC TCCCCCTCTCCCCCCCCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCC CTCTCTCCCCCTGCCCTCTCCCCCTCCCTCTCCTCCCCCCCCCTCCCCCT CTTCCCCTCCCTCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCT CCCTCTCTCCCCCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCCCTCTCC CTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTTTCCCCCCTTT CCTTCCTCCCCTCTCTCCCACTCTCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0002 a0008c0044t0002	a0008c0044t0002g0091 a0008c0044t0002g0091	1	230	0.0044	745	c.126 others(762): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGAGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGG AAAGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGGGGAGGAGAGGGAGGGGGA GAGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGG AGGGGGGGGAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGA GGGGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGA GCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAG GGAGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGA GAGGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGA GAGGGAGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGG GAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGGAGAGAGGGTAG GGAGGGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGG AGGGAGAGGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGG GAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GPRIN1_chr5_176590802_176615156	176591826	T T	TGATGGTG others(738): Show TGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGA TGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTG TGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGG TTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGA TGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGG TGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGA TGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGG TGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTG AGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTG TTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTG GTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTG TTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATG GTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATG ATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTG ATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0004 a0004c0006t0004	a0004c0006t0004g0036 a0004c0006t0004g0036	2	397	0.0050	745	c.49 others(756): Show c.4981_*4982insGTCACCATCACAACCATCACCATCACCTCAACAC CAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAA CACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCT CAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCA CCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCA TCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCA CCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCA TCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAA CCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCA CAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCA TCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCA CCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCA TCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCA CCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCA CCACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCA TCACCACCATC	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		3975		chr5	TogoVar
GTPBP6_chrX_299759_323796	322503	A A	AAAAAAAA others(738): Show AAAAAAAAAAAAAGAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCT GTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAG GAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAA AAAAAAAAAAAAAAAGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCC CAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTG ACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAA AAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTG TGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGG AGTTTGACGCCAGCATGGGCAATATGGTAAGACCCTATTATCTACAAAAA AAAAAAAAAAAAAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGC CTGTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCC AGGAGTTTGACGCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAA AAAAAAAAAAAAAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCT GTGGTCCCAGCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAG GAGTTTGACACCAGCATGGGCAATATGGTAAGACCCCATTATCTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG01070.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	155	0.0129	745	c.-37 others(756): Show c.-3717_-3716insGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTTTCTTTT TTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCTGG CGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGCAG CTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCTTTT TTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGCCCATGC TGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAG CAGCTGGGACCACAGGCACCCACCACCACACCAGGCTAATTTTTCTTTCT TTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAGGGTCTTACCATATTGC CCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGT CCCGAGCAGCTGGGACCACAGGAACCCACCACCACGCCCGGCTTTTCTTT TTTTTTTTTTTTTTTTGTAGATAATGGGGTCTTACCATATTGCCCATGCT GGTGTCAAACTCCTGGGCTCAAGCAATCCTCCCACCTCAGCGTCCCGAGC AGCTGGGACCACAGGCACCCACCACCACGCCCGGCTAATTTTTCTTTTCT TTTTTTTTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3708		chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280710	T T	TTTTTTAT others(738): Show TTTTTTATTTTATTTTATTTTATTTTTTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	394	0.0025	745	c.41- others(760): Show c.41-3524_41-3523insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAAATAAAAT AAAATAAAATAAAAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
KHSRP_chr19_6408102_6429811	6429376	G G	GGAAGGGA others(738): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGA GAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAG AGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGA GGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGA GTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGCAGAAAGGA GGAAGGAGGGGGAGGAGGAGAGGAAAGAGTCCGGGAGGAGGAGGGAGAAA GGAGGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	386	0.0026	745	c.-46 others(756): Show c.-4676_-4675insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCTCCTC CTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCCTCCT CCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTTCTCCCTC CTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTGC CTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCTC TCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTCC CCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTCC TCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCTTTC TCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTCTCC CTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTTCTC CTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCCTCC CCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCCTCC TCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCTTCA CTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTCCCTC CACCTCCCTTC	KHSRP	ENSG00000088247.19	transcript	ENST00000600480.2	protein_coding		4566		chr19	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(738): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	370	0.0027	745	c.-27 others(756): Show c.-2751_-2750insAGTGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGGAGAGGAGGGAGAGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(738): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTATTTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	260	0.0039	745	c.125 others(762): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTATTTATAT ATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(738): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATTT ATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATTT ATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATTT ATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATTT ATACATATATATTTATATGTATTTATACATATATATTTATATGTATTTAT ATATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATTTATATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATATTATTTATATATATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	260	0.0039	745	c.125 others(762): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATTTATATATATTTATGTATATTTATATATATTT ATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAATTT ATATATATTTATATGTATTTATATATATATTTATATGTATTTATATATAT TTATATATTTATATGTATTTATACATATATATTTATATGTATTTATACAT ATATATTTATATGTATTTATATATATTTATATATATTTTTTATGTATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATATTATTTATAT ATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MUC4_chr3_195741771_195816929	195760478	G G	GCTAGGAT others(738): Show GCTAGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGT GGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGG AAGGGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCG CTAGGATGGATGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTG GAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAA GGGGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACT AGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGG AGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAA GGCGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTA GGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGG GGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGC GTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGTGTCCAGCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0009 a0009	a0009c0069 a0009c0069	a0009c0069t0001 a0009c0069t0001	a0009c0069t0001g0169 a0009c0069t0001g0169	1	249	0.0040	745	c.148 others(764): Show c.14848+405_14848+406insTGCTGGACACCTTCCCAGCCCCCTCC ACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGC GCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTC CCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCA TCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCG CTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCC CAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCAT CCATCCTAGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGC TGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACGCCTTCCC AGCCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACT CCATCCTAGTGCTGGACCCCTTCCCAGCCCCTCCACTCCATCCTAGCGCT GGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCAA GCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCATCC ATCCTAGCGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGG ACGCCTTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAG CCCCTCCACTCCATCCTAG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(738): Show CTGTATACATGTACAGCATGTATACTGTATACATGTACAGCATGTATACT GTATACATGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAG CATGTATACTGTATACAGCATGTATACTGTATGTATGTATACTGTATGTA TGTATACTGTATGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATA TATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACTATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTATA TATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0106 a0001c0001t0033g0106	1	362	0.0028	745	c.-75 others(764): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTATTGTGTATATATACAGTATACATACTGTGTGTATATATA CAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTG TATATATACAGTATACATACTGTATAGTGTATATATACAGTATACATACT GTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGTA TACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATGT ATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGTATG CAGTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATA CGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACATACAGTATACATACATACAGTATACATACATACAGTATACA TGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTA TACATGCTGTACATGTATACAGTATACATGCTGTACATGTATACAGTATA CATGCTGTACATGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31886791	T T	TTTCGGAT others(738): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCA GAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATA GATCTTTTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0048 a0001c0005t0001g0048	1	262	0.0038	745	c.129 others(762): Show c.129-5932_129-5931insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTA TTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(738): Show TCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCG TCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGG GAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCA GAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACC CGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCT CCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGG AGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGG GCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCC CGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0177 a0001c0001t0014g0177	1	295	0.0034	745	c.126 others(764): Show c.1265+3382_1265+3383insTCCAGAGCCCTCCCGGGAGACCCGAG GCCGTCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGA GACCCGAGGCCGTCCAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCCCGGGAGACCCGAG GCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCC CGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTC CAGGGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCGGGAGAC CCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCC TCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	492419	G G	GGCCCTCC others(738): Show GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGG AGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGG AGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAG AGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCG CCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGA CCCGAGGCCGCCCAGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0236 a0001c0001t0020g0236	1	295	0.0034	745	c.126 others(764): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGG GCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGA GACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGG CCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGGGCCCTTC CCGGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCG CCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGA GACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAG CCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTTCCCGGGAGACCCGA GGCCGCCCAGGGCCCTTCCCGGGGAGACCCGAGGCCGCCCAGAGCCCTCC CGGGAGACCCGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGCCC AGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCCGGGAGACC CGAGGCCGCCCAGGGCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGGCCC others(738): Show GGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCTCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	330	0.0030	745	c.-51 others(756): Show c.-5185_-5184insGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCT CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCC CTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4935		chr9	TogoVar
RFC1_chr4_39282456_39371362	39348422	C C	CAGAAAAG others(738): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	276	0.0036	745	c.132 others(762): Show c.132+2925_132+2926insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPH3AL_chr17_207389_357807	356241	C C	CCACACAC others(738): Show CCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACA CACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCT CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0083 a0001c0001t0024g0083	1	133	0.0075	745	c.-37 others(756): Show c.-3743_-3742insTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGT GTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGT GCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3435		chr17	TogoVar
RWDD2B_chr21_28999384_29024349	29010490	G G	GTCCCAGC others(738): Show GTCCCAGCTACTTGAGAGGCTCAGGTGGGAGGACTGCTTGAGCCCAGAAG GTGGAGGTTGTAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGTG ACAGAGCAAGACTCTGTCTCAAACAAACAAACAAACAACCTAAACCATAG TTCCTTTTATCAATCTCTTCTTTTACAGGTTTCAAGCTTTATTTGTTTGT TTGTTTGTTTTTTTGAGACGGAGTCTTGCTTTGTGCCCAGGATGGAGTGC AGTGGTGCGATCTTAGCTCACTGCAACCTCCACCTCCCGGACTCAAACAA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGCACCCACCACC ACCCCCAGCTAATTTTTATATTTTTATTTTATTATTTGTTTATTTATTTA TTTTGGGATGCAGTTATCGCTCTTGTTGCCTAGGCTGGAGCTCAGTGTCG TGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTCCAAGCAATTCTCCT GCCTCAGCCTCCCAAGGGGAGAGATTACAGGCACATGCCACCATGCCTGG CCAATTTTTTTGTGTTTTTGTATCACCTCAGGTGATCTGCCTGCCTCAGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCCCAGCCTAAAA TAACTTGATTAGAAAGGATTTCTCTACTGCAAGATTATTTTAAAATTCTT CTATTTTTTACAAAAATTAGCTGGGTGAGGTGGTGGGCACCTGTAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG00735.hp1 others(48): Show HG00597.hp2 HG00733.hp1 HG00735.hp1 HG01106.hp2 HG01192.hp1 HG01358.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02258.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02886.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 NA18747.hp1 NA18939.hp2 NA18946.hp1 NA18947.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA18991.hp1 NA18999.hp2 NA19001.hp1 NA19010.hp2 NA19054.hp1 NA19058.hp1 NA19063.hp1 NA19067.hp1 NA19072.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA19240.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0008c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0036 others(19): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0002g0119 a0001c0001t0008g0021 a0001c0001t0008g0035 a0001c0001t0010g0020 a0001c0001t0027g0150 a0008c0009t0001g0254	51	438	0.1164	745	c.68- others(760): Show c.68-1870_68-1869insTTACAGGTGCCCACCACCTCACCCAGCTAA TTTTTGTAAAAAATAGAAGAATTTTAAAATAATCTTGCAGTAGAGAAATC CTTTCTAATCAAGTTATTTTAGGCTGGGCACAGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACCTGAGGTGATACAAA AACACAAAAAAATTGGCCAGGCATGGTGGCATGTGCCTGTAATCTCTCCC CTTGGGAGGCTGAGGCAGGAGAATTGCTTGGACCCGGGAGGCAGAGGTTG CAGTGAGCTGAGATCACGACACTGAGCTCCAGCCTAGGCAACAAGAGCGA TAACTGCATCCCAAAATAAATAAATAAACAAATAATAAAATAAAAATATA AAAATTAGCTGGGGGTGGTGGTGGGTGCCTGTAATCTCAGCTACTTGGGA GGCTGAGGCAGGAGAATTGTTTGAGTCCGGGAGGTGGAGGTTGCAGTGAG CTAAGATCGCACCACTGCACTCCATCCTGGGCACAAAGCAAGACTCCGTC TCAAAAAAACAAACAAACAAACAAATAAAGCTTGAAACCTGTAAAAGAAG AGATTGATAAAAGGAACTATGGTTTAGGTTGTTTGTTTGTTTGTTTGAGA CAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTTGGC TCACTACAACCTCCACCTTCTGGGCTCAAGCAGTCCTCCCACCTGAGCCT CTCAAGTAGCTGGGA	RWDD2B	ENSG00000156253.7	transcript	ENST00000493196.2	protein_coding	1/4			chr21	TogoVar
SHROOM2_chrX_9781429_9954443	9791969	G G	GAGAAGAG others(738): Show GAGAAGAGAAGAGAAGAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAA TAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	256	0.0039	745	c.165 others(762): Show c.165+5263_165+5264insGAGAAGAGAAGAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAGAATAG AATAGAATAGAATAGAA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMIM36_chr17_55444856_55516452	55501189	T T	TATATTAT others(738): Show TATATTATATATTATAATATATAATATATTATATTTTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATTATATTTTATAATATGTAATATA TATTATATTTTATAATATATAATATATATTATATATTATAATATATAATA TATATTATATATTATAATATATAATATATATTACATATTATAATATATAA TATATATTATATATTATAATATATAATATATATTACATATTATAATATAT AATATATTATATTTTATAATATATATAAAATATAATATATTATATTTTAT AAAATATAATATATTATATTTTATAATATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATATTATAAAA TATAATATATTATATATTATAAAATATAATATCTTATATATTATAAAATA TAATATATTATATATTATAAAATATAATATATTTTATAATATATAATATA TTATATTTTATATTATATAAGATATTATATTTTATAATATATAATATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATATATATTATAAAATATA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0105 a0001c0001t0007g0105	1	340	0.0029	745	c.17 others(764): Show c.174+9689_*174+9690insTATATTTTATAATATATATAAAATAT AATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATA TATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATC TTATATAATATAAAATATAATATATTATATATTATAAAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAAGATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATTTTATAAAATATAATATATTATATTTTATATAT ATTATAAAATATAATATATTATATATTATAATATGTAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATGTAATATATATTAT ATATTATAATATATAATATATATTATATATTATAATATATAATATATATT ATATATTATAAAATATAATATATATTACATATTATAAAATATAATATATT ATATATTATAAAATATAATATATATTACATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAATATATAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
TADA1_chr1_166851510_166881264	166866429	C C	CAAATATT others(738): Show CAAATATTATTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAAACAAAAAAAAAAACAGAACCCAATTCTAAAAAAAAAAAAAAAAAA AAAAAAAAAAACATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0151 a0002c0002t0001g0151	1	418	0.0024	745	c.233 others(762): Show c.233-2509_233-2508insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGAATTGGGTTCTG TTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAG GGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCAT GCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCC CAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGT GATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTA TGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTG AGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTC ATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTT TCTTAATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTT GCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATA GCAGCATGATTTATACTCATTTGGGTATATACCCAGTAATGGGATGGCTG GGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGAC TTCCACAATGGTTGAACTAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATAATAATATTT	TADA1	ENSG00000152382.6	transcript	ENST00000367874.5	protein_coding	3/7			chr1	TogoVar
TBXAS1_chr7_139824264_140025293	139950728	A A	ACCCCCTC others(738): Show ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGATCCCCTCGCCCTCCATCTACGGGACCC CCTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGC CCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCC TCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTC CATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCA TCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATC TACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTA CGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACG GGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGG ACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC CCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCC CCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGAC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	270	0.0037	745	c.451 others(762): Show c.451-2568_451-2567insTCCCCTCGCCCTCCATCTACGGGACCCC CTCACCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCT CGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCG CCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCC CTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCT CCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCC ATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCAT CTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCT ACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTAC GGGACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGG GACCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGA CCCCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACC CCCTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCC CTCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCC TCGCCCTCCATCTACGGGACCCCCTCGCCCTCCATCTACGGGACCCCCTC GCCCTCCATCTACGGGA	TBXAS1	ENSG00000059377.19	transcript	ENST00000448866.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
TCF3_chr19_1604292_1657615	1628833	G G	GCTCACAG others(738): Show GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGG TGGGAAGGGGACAGCAGAGCTCATGGGGGTGAGGCGGGAAGGGGACAGCA GAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGC AGAGCTCACGGGGGTGGGGCAGGAAGGGGACAGCAGAGCTCACAGGGGAT GAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGACA GCAGAGCTCACGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCGCAGGGGG TGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGAC AGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGG GTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGTGGGAAGGGGA CAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGG GGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAAGGG GACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCAC GGGGTGAGGTGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCGCAGGGGGTGAGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0061 a0002c0002t0007g0061	1	352	0.0028	745	c.299 others(762): Show c.299-1408_299-1407insTTCTGCTGTCCCCTTCCCGCCTCACCCC CTGCGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTC CCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCC CCTGTGAGCTCTGCTGTCCCCTTCCTGCCCCACCCCCGTGAGCTCTGCTG TCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCAC CCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCT GTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCA TCCCCTGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGC TGTCCCCTTCCCGCCTCACCCCCTGCGAGCTCTGCTGTCCCCTTCCCACC TCACCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTG CTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCTGC CCCACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTC TGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCATGAGC TCTGCTGTCCCCTTCCCACCTCACCCCGTGAGCTCTGCTGTCCCCTTCCC GCCTCACCCCCTGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(738): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATATTATATACATATTATATATTA TATACATATTATATATTATATATTATATACATATTATACATTATATATAT CTAAAATATATAATACACATTATATATTATATAATACACATTATATATAA TATATAATACACATTATATATTATATATAATACACATTATATATTATATA TAATACACATTATATATTATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATATAATACACAT TATATATTATATAATACACATTATATATTATATATAATACACATTATATA TATAATACACATTATATATTATATATAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	360	0.0028	745	c.62 others(756): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATAATATATAATATATAATAT GTATATTATATATAATATATAATACATATAATATGTATATTATATATATA ATATATAATATATAATACATATAATATGTATATTATATATATAATATATA ATATATAATACATATAATATGCATATTATATATAATATATTATATAATGC ATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATA ATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATA TATAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTATAT TATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(738): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCA CCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCAC CTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACC TTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACAT TCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACTGC TCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCT CCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACCTTCC TACCGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCC ACTGCTCCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCA CCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACCACTCCTA CCTTCCCACCTTCCCACCGCTCCCACATTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG03041.hp1 HG02145.hp2 HG02970.hp2 HG03041.hp1	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0008c0026 a0012c0058 a0001c0001 a0008c0026 a0012c0058	a0001c0001t0001 a0008c0026t0001 a0012c0058t0001 a0001c0001t0001 a0008c0026t0001 a0012c0058t0001	a0001c0001t0001g0129 a0008c0026t0001g0208 a0012c0058t0001g0073 a0001c0001t0001g0129 a0008c0026t0001g0208 a0012c0058t0001g0073	3	396	0.0076	745	c.695 others(760): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGA AGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAG TGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAG GTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGG TGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGG TGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGT GGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTG GGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGG GAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGG AAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGA AGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	376746	G G	GCCCCCAC others(738): Show GCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC CCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTC TCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCTCCACCCAG CCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTC CACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCG TGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCC CCGTGCCTCCACCCAGCCTCTCCCCCCCCCGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCCCCGTGCCTCCACCCAGCCTCTCCCCCTCTGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0112 a0001c0001t0011g0112	1	370	0.0027	745	c.-77 others(754): Show c.-777_-776insGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGGGGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCACGG GGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGAGGCA CGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGGAGAGGCTGGGT GGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAG AGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGGGG GGGGGAGAGGCTGGGTGGAGGCACGGGGGGGGAGAGGCTGGGTGGGGGCA CAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGG GCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCT GGGTGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		721		chr19	TogoVar
TMPRSS2_chr21_41459305_41513158	41474574	A A	AGTGAGGG others(738): Show AGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGG TGGTGAGTGAGGGGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGTGA GGGGGTGAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGTGGTG AGTGAGGGGGTGAGGGGTGAGTAAGGAGGTGAGGGGGTGAGTGAGGGGGT GGGTGAGGGGTGGGTGAGGGGATGAGGGAGTGATTCAGAGGGTGAAGGGG TGAGTGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGG GGTGACTGAGGGGTGAAGGGGTGAGTGAGGAGGAGAGTGAGGGGGTGAAG GCATGAGTGAGGGGGTGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAA GGGATGAATGAGGGGGTAAGTAAGGGGTTGAGGGGGTGAGGGGGTGAGTG AGGAGGTGAAGGGTGAGTGAGGGCGTGAGGGGGTGAGGGAGTGAGGGATT AGTGAGGGGGTGAGGGGTTGAGTGAGGAGGTGAGCAGGTGGGTGAGTGGA TGAAGGGGTGAGTGAGGGGGTGAGGGGTGAATGAGGGGTTGAGTAGGGGG TGAGTGAGGAGGTGAGGTGGTGAGTGAGGGGGTGAAGGGTGAGTGAGGGG GTGAGGAGGTGAGTGAGGGGGTGACGGGGTGGGGTGAGGGAGGGATGAGG GGGAGAGTGAGGAGGTGAGGAGGTGAGTGAGGGTTGAGGGAGTGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 HG02922.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0369 a0001c0001t0001g0371 a0001c0001t0001g0369 a0001c0001t0001g0371	2	382	0.0052	745	c.728 others(762): Show c.728-1079_728-1078insCTCACTCCCTCAACCCTCACTCACCTCC TCACCTCCTCACTCTCCCCCTCATCCCTCCCTCACCCCACCCCGTCACCC CCTCACTCACCTCCTCACCCCCTCACTCACCCTTCACCCCCTCACTCACC ACCTCACCTCCTCACTCACCCCCTACTCAACCCCTCATTCACCCCTCACC CCCTCACTCACCCCTTCATCCACTCACCCACCTGCTCACCTCCTCACTCA ACCCCTCACCCCCTCACTAATCCCTCACTCCCTCACCCCCTCACGCCCTC ACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCTTACT TACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCACCCAT TCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTCACCC CTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAATCATG CCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCATCCC CTCACCCACCCCTCACCCACCCCCTCACTCACCCCCTCACCTCCTTACTC ACCCCTCACCCCCTCACTCACCACCTCACCCACCCCTCACCCACCCCCTC ACTCACCCCCTCACCCCCTCACTCACCCCCTCACCCCCTCACTCACCCCC TCACCCCCTCACTCACCACCTCACCCACCCCTCACCCACCCCCTCACTCA CTCCCTCACCCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TXNDC16_chr14_52425596_52557505	52530465	T T	TAATAATA others(738): Show TAATAATATAATATATATTATTATATATTATTATATATAATAATATAATA TATATTATTATATATTATTATATATAATAATATAATATATATTATTATAT ATAATAATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATATATTA TATTATTATATATAATTATATATAATAATATATATTATATTATTATATAT AATTATATATAATAATATAATATATATTATTATATATAATAATAATATAT ATATATTATTATATATAATTATATATAATAATATAATATATATTATTATA TATAATTATATATAATAATATAAATATATTATTATATATTATTATATATA ATAATATAATATATATTATATATTATTATATATAATAATATAATATATAT TATTATATATTATTATATATAATAATATAATATATATTATTATATATAAT AATATAATATATATTATTATATATTATTATATATAATAATATAATATATA TTATTATATATTATTATATATAATAATATAATATATATTATTATATATAA TAATATAATATATATTATTATATATTATTATATATAATAATATAATATAT ATTATTATATATAATAATATAATATATATTATTATATATTATTATATATA ATAATATAATATATATTATTATATATTATTATATATAATAATATAA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	238	0.0042	745	c.392 others(762): Show c.392+6253_392+6254insTTATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATAATAATATATATTATATTATTATATATAATAATATATA ATAATATATATTATATTATTATATATAATAATATATATTATATTATTATA TATAATAATATATAATAATATATATTATATTATTATATATAATAATATAT AATAATATATATTATATTATTATATATAATAATATATATTATATTATTAT ATATAATAATATATAATAATATATATTATATTATTATATATAATAATATA TAATATATATTATATTATTATATATAATAATATATAATAATATATTTATA TTATTATATATAATTATATATAATAATATATATTATATTATTATATATAA TTATATATAATAATATATATATATTATTATTATATATAATAATATATATT ATATTATTATATATAATTATATATAATAATATAATATATATTATTATATA TAATTATATATAATAATATAATATATATTATTATATATAATAATATATAA TAATATATATTATATTATTATATATAATAATATATAATAATATATATTAT ATTATTATATATTATTATATATAATAATATATATTATATTATTATATATA ATAATATATAATAATATATATTATATTATTATATATAATAATATATAATA ATATATATTATATTATT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(738): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGG GAAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGG AGGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGG GAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAG GGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGG AGAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGA GGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGG AGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAG GGGAGGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGA GGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGA AGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGGCAG GGAGGGGAGGGAGGGAGGGAAGGGAGGGGAGGGAGGGAGGGAAGTGAAGG AAAGGGAAAGAGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGG GTGGGGAGGGTGGGATGAAGGAAATGGAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02129.hp2 HG00621.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0009 a0001c0002t0001 a0001c0005t0009	a0001c0002t0001g0239 a0001c0005t0009g0001 a0001c0002t0001g0239 a0001c0005t0009g0001	2	290	0.0069	745	c.205 others(764): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTC CCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCCTCCCTCCCTTCCCTCC CTCCCTCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCT CCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCT CCCCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCACTCCCTCCC CTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCCCTGCC TACCTCCCTCCCCTCCCTTCCCTTCCCTCACTCCCTCCCTCCTCTCCCTT CCCTTTCCTCCCTCCCTCCTTCCTCTCACTTCCCTTTTCTCCCTCCCTCC CTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF627_chr19_11592483_11624161	11613151	C C	CCTCCTTC others(738): Show CCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCCCTCCCCTCCCCCTTCCT CATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTCCCTCCCCCCCTCCC CTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTTCCTCCCCTTCCCCC TCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCTCCTCCCTCCCCCTC CCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCCTCCTCCC CTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCTTCCCCTTCCTCC TCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCCTCCCCCTTCCCTCCTCC CTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCCCCTCCCCTACCCTCCTC CCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCCCTC CCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCC TCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCCTCCTCTTCC CCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCCCTCTCCCCTCCCCTCCC CTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCC CCTCCCCATCTTCCCTCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTC CTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCCCCCTCACCTCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	322	0.0031	745	c.4-1 others(758): Show c.4-1376_4-1375insCTCCTTCCCCCCTCCCCTCCCCTCCTTCCCCC CTCCCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTC CTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTT CTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCT CCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCCTCCCTCCCC TCCCCCTTCCCTCCTCCCTCCCCTCCCCCTTCCCTCCTTCCTCCCCTCCC CCTCCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTC CCCTCCTCCTCCCCCTCCCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCC TCCTCCCTCCCCTCCCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCTC CTCCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCATCCCCCTCCTCCC CTCTCCCCTCCCCTCCCCTTCCCTTCCCCTCTCCTCCCCTCCTCCCTCCC CTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACTCCCGTCA CCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTCCCCTTCC CCCTCACCTCCCT	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3			chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(738): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC GTATATATATATACTTGTATACATATATACTATATATATACATATATACA CATATATACGTATATATGTGTATATATACATATATACATGTATATACGTA TATACATGTATATACGTATATATACACGTATATATACATGTATATATACG TATATATACACATATATACATGTATATATATGTGTATATATACACATATA TACGTGTATATATACGTATATATACACATATATACGTGTATATATATACG TATATATACACATATATACGTGTATATATATACGTATATATACACATATA TACGTATATATATACGTATATATACATGTATATATACGTACGTATATATA CATGTATATATACGTACGTATATATACATGTATATATACGTATATATATA CGTATATATGTGTATATATACGTATATATATACACGTATATATACACATA TATACATGTATATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACATATATACGTATATATATACGTATATATACATATATA CATGTATATATATATATACGTATATATACATATATACATGTATATATATA TACGTATATATACATATATACATGTATATATATATACGTATATACACATA TATATACATGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	383	0.0026	745	c.-42 others(756): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACGTATATATATATACTTGTATACATATATACTATAT ATATACATATATACACATATATACGTATATATGTGTATATATACATATAT ACATGTATATACGTATATACATGTATATACGTATATATACACGTATATAT ACATGTATATATACGTATATATACACATATATACATGTATATATATGTGT ATATATACACATATATACGTGTATATATACGTATATATACACATATATAC GTGTATATATATACGTATATATACACATATATACGTGTATATATATACGT ATATATACACATATATACGTATATATATACGTATATATACATGTATATAT ACGTACGTATATATACATGTATATATACGTACGTATATATACATGTATAT ATACGTATATATATACGTATATATGTGTATATATACGTATATATATACAC GTATATATACACATATATACATGTATATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACATATATACGTATATATATACGT ATATATACATATATACATGTATATATATATATACGTATATATACATATAT ACATGTATATATATATACGTATATATACATATATACATGTATATATATAT ACGTATATACACATATATATACATGTATATATATGTGTATATATACATGT ATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(739): Show ATAAATATATAAATATATACATATTTATATATTTATAGATAAATATATAC ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATACAT AAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTTAT ATTTATACATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18948.hp2 HG02083.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0002 a0001c0001t0010 a0001c0002t0002	a0001c0001t0010g0137 a0001c0002t0002g0136 a0001c0001t0010g0137 a0001c0002t0002g0136	2	306	0.0065	746	c.130 others(765): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATGTATAAATATAAAAATATTTATACATTTATGTATAAA TATAAAAATATTTATACATTTATGTATAAATATATAAATATTTATATATT TATCTATAAATATATAAATATGTATATATTTATCTATAAATATATAAATA TGTATATATTTATATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(739): Show ATAAATATATAAATATATACATATTTATATATTTATAGATAAATATATAC ATATTTATATATTTATAGATAAATATATAAATATTTATATATTTATACAT AAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	306	0.0033	746	c.130 others(765): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATGTATAAA TATAAAAATATTTATACATTTATGTATAAATATATAAATATTTATATATT TATCTATAAATATATAAATATGTATATATTTATCTATAAATATATAAATA TGTATATATTTATATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCB11_chr2_168915781_169036324	168975305	A A	ATAAATAT others(739): Show ATAAATATATAAATATATACATATTTATATATTTATAGATAAATATATAC ATATTTATATATTTATAGATAAATATATACATATTTATATATTTATACAT AAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTTAT ATTTATACATAAATGTATAAATATTTTTATATTTATACATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTTAT ATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAA ATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAGAT AAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0196 a0001c0002t0006g0196	1	306	0.0033	746	c.130 others(765): Show c.1308+1271_1308+1272insAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATA TTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAA TATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATACATT TATCTATAAATATAAAAATATTTATACATTTATGTATAAATATAAAAATA TTTATACATTTATGTATAAATATAAAAATATTTATACATTTATGTATAAA TATAAAAATATTTATACATTTATGTATAAATATATAAATATGTATATATT TATCTATAAATATATAAATATGTATATATTTATCTATAAATATATAAATA TGTATATATTTATATATTTA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
ABCC4_chr13_95014835_95306451	95025448	A A	ACACCCAC others(739): Show ACACCCACACACCCATACACACACACACCAGACCCCCACACCCCCACACC CATACACACACACCCACCCACCCACACCCACACCCACCACACACACCCAC ACCCCCACACACACCCTCCCACCCCCACACACACATACCCCCACCACACA CCCACACACCCCCTCACACACACACCCACACCCACCACACACCCCCACCA CACACCCACATACACCCACACCCCCACCACACACCCATACACACACCCCC ACATACTAATACACACACACCCCCACACCCTCCCACCCCCCCCACACCCC CACCACACACCAATACACACCCACACACCCCCTCACACACACCCACACAC CCATACACACACCCACCACACACCCATACATACACACCCCCACACCCCCT CACACCCTCCCCCCACTCACCCATACACAACCCCCACCACACCCCCACAC CCATACACACACACACCCCCACCACACCCATACACACACCCCTGCACCCC CTCACACACCCTCCCCCCCCACACACCCATACACACACCCCCCACACCCC CACCACACCCATACACACACACCCGTACCCCCTCACACCCTCCCCCCACA CACCTATCCCCACCACACACCCATACACACACACCCACACACACACCACA CCCATACACACACATACCCCCACACCCCCACACACACCCTCCCTCACACA CACCCCCACCACACACCCATACACACCCCAACCCCCCCACACACACC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0007 a0001c0014t0007	a0001c0014t0007g0172 a0001c0014t0007g0172	1	248	0.0040	746	c.387 others(765): Show c.3871-3767_3871-3766insGGTGTGTGTGGGGGGGTTGGGGTGTG TATGGGTGTGTGGTGGGGGTGTGTGTGAGGGAGGGTGTGTGTGGGGGTGT GGGGGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATG GGTGTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGG TGTGTGTGTATGGGTGTGGTGGGGGTGTGGGGGGTGTGTGTATGGGTGTG TGGGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGG TGGGGGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATG GGTGAGTGGGGGGAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGT GTGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGAGGGGGTGTGTG GGTGTGTATTGGTGTGTGGTGGGGGTGTGGGGGGGGTGGGAGGGTGTGGG GGTGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGG GTGTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGT GTGTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTGGGGG TGGGAGGGTGTGTGTGGGGGTGTGGGTGTGTGTGGTGGGTGTGGGTGTGG GTGGGTGGGTGTGTGTGTATGGGTGTGGGGGTGTGGGGGTCTGGTGTGTG TGTGTATGGGTGTGTGGGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAA GGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGA AAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0196 a0004c0008t0001g0196	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTT CCCTTCCCTTTCCCTTCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAA GGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGA AAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTT CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGAAGGAAAGGGGAAAGGGAAGGGGAAA AGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAG GGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAA GGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGA AAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0186 a0010c0013t0001g0186	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCC CTTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTT CCCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCT TCCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTT CCCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAA AGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGG AAAGGGAAGGGAAGGGAAAGGGAAGGAAAGGAAAGGGAAAGGGAAAGGGA AGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCTTCCC TTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTC CCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTT CCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAA AGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGG AAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGG AAGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCT TCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCCC TTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTC CCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTT CCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAA AGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGG AAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAGGG AAGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGG GAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCCT TCCCCTTCCCCTTCCCCTTCCCTTTCCCTTTCCCTTTCCTTTCCCTTCCC TTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTC CCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTT CCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(739): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAA AAGGAAGGGAAGGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGAAGGGGAAGGGAAGGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAA AGGAAGGGGAAGGGAAGGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGG AAAGGGAAGGGAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAGGGA AGGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGGGAAGGGAAGGGGAAGGG AAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAGGGAGGGGAAGGGAAGGGG AAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGGGAGGGGGAAGTGAAGGGG TAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGGAAGAGAGGGAGGGAGGGA GGGAGGAAGGAAGGACGGATGGACGGACAGGACGAAAAAAAGAGAGGGGA GGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAAAAAGGGAAGGGAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	242	0.0041	746	c.927 others(763): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCA TCCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTT CCTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCC CTTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCC TCTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCCTTCCC TTCCCCTTCCCCTTCCCCTTCCCTTCCCTTTCCCTTTCCTTTCCCTTCCC TTTCCCTTCCCTTCCCTTTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTC CCCTTCCCTTCCCCTTCCTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTT CCCTTCCCTTCCCCTTCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTTCCCCTTTCCTTCCCTTC CCTTCCCCTTCCCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCTTTC CCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCC CTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCTTCCC TTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130049971	G G	GGGGGCAG others(739): Show GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGG CAGAGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAG AGGAGAACACATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAAC ACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGG CAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACATG GGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACATGGGGGGCAGA GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CATGGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGG CAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGAGGGGGA ACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087	3	308	0.0097	746	c.47 others(757): Show c.4759_*4760insATGTGTTCCCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCAT GTGTTCTCCTCTGCCCTCCATGTGTTCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCC CCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTAT TCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTG CCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCAT GTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTT CTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTG CCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCAT GTGTTCTCCTCTGCCCCCATGTATTCCCCTCTGCCCCCATGTGTTCTCCT CTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTT CTCCTCTGCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2132		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130428421	C C	CCATCATC others(739): Show CCATCATCATCATCACCACCATCATCATCACCACTATCATCATTACCATC ACCACCATCATCATCATGACCATCATCACCACCACCATCACCACCACCAC TGTCATCACCATCATCACCATCACCACCACCACCACCATCATCATCACCA CCACTGTCATCACCATCACCACCATCACCACCACCACCATCATCATCACT ATCATCACCACCATCATCACCACCATCATCATCACCATCACCATAACCAC CACCACCATCCTCATCATCACCATCAGTATCACCACCATCATTATCACCA TCATCACCACCACCATCATCACCACCAACACCATCATCATCATCACCATC ATCATCATCACCATCATCATCACCACCACTATCATCACCATCATCACCAC CATCATCACCATCATCATCACCACCACCATCATCACCATCGTCATCACCA CCACCATCATCATCACCATAATCACCACCATCATCACCACCATCATCACA CCACCAGTCATCACCATCACCACCATCACCATCACCACCACCACCACCAT CACCACCATCACCACCATCACCACCATCATCACCATAACCAACACCACCA TCACCACCACCACCATCATCCTCACACCACCACTGTCATCATCACCACTG TCATCACCATCACCACTACCACCACCACCATCATCACCACCATCACCACC ATCATCACCATAACCAACATCACCATCACCACCACCACCACCATCCT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0065 a0002c0002t0003g0065	1	308	0.0033	746	c.-28 others(765): Show c.-28+15038_-28+15039insAGGATGGTGGTGGTGGTGGTGATGGT GATGTTGGTTATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGTGG TGGTAGTGGTGATGGTGATGACAGTGGTGATGATGACAGTGGTGGTGTGA GGATGATGGTGGTGGTGGTGATGGTGGTGTTGGTTATGGTGATGATGGTG GTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGT GGTGATGGTGATGACTGGTGGTGTGATGATGGTGGTGATGATGGTGGTGA TTATGGTGATGATGATGGTGGTGGTGATGACGATGGTGATGATGGTGGTG GTGATGATGATGGTGATGATGGTGGTGATGATGGTGATGATAGTGGTGGT GATGATGATGGTGATGATGATGATGGTGATGATGATGATGGTGTTGGTGG TGATGATGGTGGTGGTGATGATGGTGATAATGATGGTGGTGATACTGATG GTGATGATGAGGATGGTGGTGGTGGTTATGGTGATGGTGATGATGATGGT GGTGATGATGGTGGTGATGATAGTGATGATGATGGTGGTGGTGGTGATGG TGGTGATGGTGATGACAGTGGTGGTGATGATGATGGTGGTGGTGGTGGTG ATGGTGATGATGGTGATGACAGTGGTGGTGGTGATGGTGGTGGTGATGAT GGTCATGATGATGATGGTGGTGATGGTAATGATGATAGTGGTGATGATGA TGGTGGTGATGATGATGATG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	1/29			chr8	TogoVar
C4orf50_chr4_5954375_6023431	6004209	A A	ATGTGATG others(739): Show ATGTGATGGTGATAATGATGGTGATGATGGTGATGGTGATGGTGATGATG GTGATGGTGGTGATGGTGATGGTGATGTTGGTGATGGTGGTGATGATGTG ATGGTAATGGTGATGATGGTGATGGTGATGATGTGGTGGTGATGGTGATG GTGACTGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGAT GGTGATGGTGATGATGTGATGGTGATGTTGATGATGGTGGTGATGGTGAT GATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGATGGTGATGAT GTGATAGTGATGATGGTGATGATGCTGATGGTGATGATGGTGATGGTGAT GATGGTGATAGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATTATGGTGATGATGGGATGGTGATGTTGATGATGGTGG TGATGGTGATGATGTGATGGCGATGATAGTGATGATGGTGATGATGGTGA TGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGGTGATGGTGATGGTGATGATAGTGATGATGGTG ATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGGTGAT GATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATGGT GATGGTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGG	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	346	0.0029	746	c.963 others(763): Show c.963+3786_963+3787insCCATCACCATCATCACCATCATCAACAT CATCACCATCATCACCATCACCATCACCATCATCACCATCATCACCATCA CATCATCACCGTCACCATCATCACCATCATCACCATCATCACCATCACCA TCATCACCATCACCATCATCACCATCATCACTATCATCACCATCACCATC ACCATCATCACCATCACCATCATCACCATCATCACCATCATCACTATCAT CACCATCACATCATCACCATCACCATCATCACCATCATCACTATCATCGC CATCACATCATCACCATCACCACCATCATCAACATCACCATCCCATCATC ACCATAATCACCATCACCATCATCACCATCATCACCATCATCACCATCAC CATCATCACTATCACCATCATCACCATCACCATCATCACCATCAGCATCA TCACCATCATCACTATCACATCATCACCATCACCATCATCACCATCATCA CTATCATCGCCATCACATCATCACCATCACCACCATCATCAACATCACCA TCACATCATCACCATCACCATCATCACCATCATCACCATCACCATCATCA CCATCACCATCACAGTCACCATCACCATCACCACCACATCATCACCATCA CCATCATCACCATTACCATCACATCATCACCACCATCACCAACATCACCA TCACCATCACCACCATCACCATCATCACCATCACCATCACCATCATCACC ATCATTATCACCATCACA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CCDC183_chr9_136791338_136812741	136802876	G G	GGGGGCCC others(739): Show GGGGGCCCCCCAAGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATG GGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	398	0.0025	746	c.666 others(761): Show c.666+101_666+102insAGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTC TTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGCCCCCCA	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGC others(739): Show GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGC CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0338 a0001c0001t0002g0338	1	398	0.0025	746	c.666 others(761): Show c.666+495_666+496insCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCC TCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGG CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCGGGC CCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGG GGGCCCCCCAGGGCGGGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAG CTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar

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