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
RAB11FIP3_chr16_420649_528011	492363	T T	TCCCGGGA others(586): Show TCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCCCCGGGAGACCCGAG GCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGCCCCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGCCGCC CAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGA CCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCC CTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGG CCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCG GGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCA GGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACC CGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCC TCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCC GCCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0085 a0001c0001t0043g0085	1	235	0.0043	593	c.126 others(612): Show c.1265+3382_1265+3383insTCCGTCCAGAGCCCCCCCGGGAGACC CGAGGCCGTCCAGAGCCCTCCCGGGAGACCCGAGGCCGTCCGTCCAGAGC CCCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCCCGGGAGACCCGAGGC CGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGG GAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAG GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTC CCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCCGAGGCCG CCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGA GACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGG CCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCCTCCCGGGAGACCCGA GGCCGCCCAGGGCCCCTCCCGGGAGACCCGAGGCCGTCCAGGGCCCTCCC CGGGAGACCCGAGGCCG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114099906	C C	CCCCACAG others(586): Show CCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCC CCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCC CCCACAGCCCCCCACAGCAGCCCCCCACAGCAGCCCCCCCACAGCCCCCC ACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCAC AGCAGCCCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAGCA GCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGC CCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCCC CCCCACAGCACCCCCCACAGCCCCCACAGCAGCCCCCCCACAGCCCCCAC AGCAGCCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAG CAGCCCCCCCCACAGCCCCCACAGCAGCCCCCCACAGCCCCCCACAGCAG CCCCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCACAGCAGCC CCCCCACAGCCCCCCACAGCAGCCCCCCCACAGCCCCCCCACAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	51	0.0196	593	c.56- others(610): Show c.56-26070_56-26069insCTGTGGGGGGGCTGTGGGGGGGCTGCTG TGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTG GGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGCTGCTGTGGGG GCTGTGGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGG CTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGT GGGGGGTGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGT GGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGG GGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGG CTGTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCT GTGGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGC TGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGCTGTGGGGGGCTGT GGGGGGGCTGCTGTGGGGGGCTGTGGGGGGGCTGCTGTGGGGGGCTGTGG GGGGGCTGCTGTGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(586): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCAATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGG CAGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG02451.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0119 a0001c0001t0008g0117 a0001c0001t0006g0119 a0001c0001t0008g0117	2	137	0.0146	593	c.-32 others(614): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCA CCGTTACCACCACCACTGCCATCACCACCATCATTGCCATTATCACCATT ACCATTGCCATCACCATCACTACTATCATAATCACCCTCACCGCCATCAC TGCCATCATCACCATTGCCACCACCATCACCACCATCATTACTATCATCA CCACCACCACCATCACTGACATGATCACCATTACCACCACCACCACTGCC GTCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCAT CACCACCATCATTACTATCATCATCACCATCACCACCATCATCGCCATTA TCACCATTACCATCGCCATCACCACCATCACTACTCTCATAATCACCATC ACTGCCATCATCACCATTGCCATCACTATCACCACCATCATGACTATCAT CACCATCACCACCACCACCACCATCACTGACATATAATCACCATTACCAC CACCACCATTATCACTGTCATCATCATCTCCATCAATACCACCACCATCA TCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(586): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGACGG CAGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	136	0.0074	593	c.-32 others(614): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACCACCACTGCCGTCACCACCATTATCACTATTATCACCA CCGTTACCACCACCACTGCCATCACCACCATCATCGCCATTATCACCATT ACCATTGCCATCACCATCACTACTATCATAATCACCCTCACCGCCATCAC TGCCATCATCACCATTGCCACCACCATCACCACCATCATTACTATCATCA CCACCACCACCATCACTGACATGATCACCATTACCACCACCACCACTGCC GTCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCAT CACCACCATCATTACTATCATCATCACCATCACCACCATCATCGCCATTA TCACCATTACCATCGCCATCACCACCATCACTACTCTCATAATCACCATC ACTGCCATCATCACCATTGCCATCACTATCACCACCATCATGACTATCAT CACCATCACCACCACCACCACCATCACTGACATATAATCACCATTACCAC CACCACCATTATCACTGTCATCATCATCTCCATCAATACCACCACCATCA TCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(586): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTGGTGGTGGTGATGGTGGTGATGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01993.hp1 HG03688.hp2 HG00323.hp1 HG01993.hp1 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0002t0001g0053 a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0002t0001g0053	3	138	0.0217	593	c.-32 others(614): Show c.-320+55543_-320+55544insCACAACTACCATCATCACCACCAT CACCACCACCACAACTACCATCATCACCACCATTATCACTATTATCACCA CCGTTACCACCACCACTGCCATCACCACCATCATCGCCATTATCACCATT ACCATTGCCATCACCATCACTACTATCATAATCACCCTCACCGCCATCAC TGCCATCATCACCATTGCCACCACCATCACCACCATCATTACTATCATCA CCACCACCACCATCACTGACATGATCACCATTACCACCACCACCACTGCC GTCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCAT CACCACCATCATTACTATCATCATCACCATCACCACCATCATCGCCATTA TCACCATTACCATCGCCATCACCACCATCACTACTCTCATAATCACCATC ACTGCCATCATCACCATTGCCATCACTATCACCACCATCATGACTATCAT CACCATCACCACCACCACCACCATCACTGACATATAATCACCATTACCAC CACCACCATTATCACTGTCATCATCATCTCCATCAATACCACCACCATCA TCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79555282	A A	AGTGGTGG others(586): Show AGTGGTGGTGATGGTGGTGATGATGGTGGTGGTATTGATGGAGATGATGA TGACAGTGATAATGGTGGTGGTGGTAATGGTGATTATATGTCAGTGATGG TGGTGGTGGTGGTGATGGTGATGATAGTCATGATGGTGGTGATAGTGATG GCAATGGTGATGATGGCAGTGATGGTGATTATGAGAGTAGTGATGGTGGT GATGGCGATGGTAATGGTGATAATGGCGATGATGGTGGTGATGGTGATGA TGATAGTAATGATGGTGGTGATGGCAGTGGTGGTGGTAACGGTGGTGATA ATAGTGATAATGGTGGTGACGGCAGTGGTGGTGGTGGTAATGGTGATCAT GTCAGTGATGGTGGTGGTGGTGATGATAGTAATGATGGTGGTGATGGTGG TGGCAATGGTGATGATGGCAGTGATGGCGGTGAGGGTGATTATGATAGTA GTGATGGTGATGGCAATGGTAATGGTGATAATGGCGATGATGGTGGTGAT GGCAGTGGTGGTGGTAACGGTGGTGATAATAGTGATAATGGTGGTGATGA TGGTAGTTGTGGTGGTGGTGATGGTGGTGGTGATGGTAGTTGTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	136	0.0074	593	c.-32 others(614): Show c.-320+55543_-320+55544insCACAACTACCATCACCACCACCAT CACCACCACCACAACTACCATCATCACCACCATTATCACTATTATCACCA CCGTTACCACCACCACTGCCATCACCACCATCATCGCCATTATCACCATT ACCATTGCCATCACCATCACTACTATCATAATCACCCTCACCGCCATCAC TGCCATCATCACCATTGCCACCACCATCACCACCATCATTACTATCATCA CCACCACCACCATCACTGACATGATCACCATTACCACCACCACCACTGCC GTCACCACCATTATCACTATTATCACCACCGTTACCACCACCACTGCCAT CACCACCATCATTACTATCATCATCACCATCACCACCATCATCGCCATTA TCACCATTACCATCGCCATCACCACCATCACTACTCTCATAATCACCATC ACTGCCATCATCACCATTGCCATCACTATCACCACCATCATGACTATCAT CACCATCACCACCACCACCACCATCACTGACATATAATCACCATTACCAC CACCACCATTATCACTGTCATCATCATCTCCATCAATACCACCACCATCA TCACCACCATCACCACCAC	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(586): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0211 a0002c0002t0001g0211	1	221	0.0045	593	c.205 others(608): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACGCCGACCCCTCCTCACTCCCC ACCGCACAGGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTC CTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCACTGCCCACG CCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(586): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0016 a0001c0003t0004g0016	1	5	0.2000	593	c.880 others(610): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(586): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCTGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	5	0.2000	593	c.880 others(610): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCAGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(586): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGG TGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTC TGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0031 a0001c0003t0017g0031	1	5	0.2000	593	c.880 others(610): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTC CTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(586): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGGGCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0018 a0001c0003t0004g0018	1	5	0.2000	593	c.880 others(610): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG CCCCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(586): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGGGCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02258.hp2 HG00741.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0008 a0001c0003t0004 a0001c0003t0008	a0001c0003t0004g0067 a0001c0003t0008g0105 a0001c0003t0004g0067 a0001c0003t0008g0105	2	6	0.3333	593	c.880 others(610): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGCCCCCCCCCACCTCCCTCCCGGATG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(586): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGC CCCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGGTCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03453.hp2 HG02886.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0027 a0001c0004t0010 a0001c0004t0027	a0001c0004t0010g0107 a0001c0004t0027g0106 a0001c0004t0010g0107 a0001c0004t0027g0106	2	6	0.3333	593	c.880 others(610): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCGCGCCTCCCTCCCGGACGGG GCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG CAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCT GATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTG ACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCC TCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RUNX1_chr21_34782801_35054302	34931569	A A	ATGTATAC others(586): Show ATGTATACATACAGACATGTATGTATAATATATATACATATAGACATGTA TATTATATGTACATATATGTATATATTATATATACATATATATGTATATA TAATATATACATGTATATATTATACATGTATATATTAATATATAATATAT AGTATATATATACATGTATATATTATATATAAAGTATATATTATATATAC GTGTATACAATATATATACGTGTATATATATTATATACACGTATATATAA TATATTGTATACAGGTATATATACATGTATATAATATATATGTATATATA ATATATTGTATACATGTATATATATACATGATATATACACATATATGTAT ATATATACATGATATATACATACATATATATCATGTGTATATATATACAT AATATACACGTATATATACATACATATATACATGTATATATACACATATA TACATACATATATATACATGTATATATACACACATATATATGTGTATGTA TATGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA TATATATATATATAATTTTACAACTAACATTAGCCATTGAATAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03041.hp1 HG03453.hp1 others(1): Show HG02559.hp2 HG03041.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0102 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0050 a0001c0001t0001g0102 a0001c0003t0001g0011	4	124	0.0323	593	c.59- others(610): Show c.59-38607_59-38606insCTATTCAATGGCTAATGTTAGTTGTAAA ATTATATATATATATATATATATATATATATATATATACACACACACACA CACACACACACACATATACATACACATATATATGTGTGTATATATACATG TATATATATGTATGTATATATGTGTATATATACATGTATATATGTATGTA TATATACGTGTATATTATGTATATATATACACATGATATATATGTATGTA TATATCATGTATATATATACATATATGTGTATATATCATGTATATATATA CATGTATACAATATATTATATATACATATATATTATATACATGTATATAT ACCTGTATACAATATATTATATATACGTGTATATAATATATATACACGTA TATATATTGTATACACGTATATATAATATATACTTTATATATAATATATA CATGTATATATATACTATATATTATATATTAATATATACATGTATAATAT ATACATGTATATATTATATATACATATATATGTATATATAATATATACAT ATATGTACATATAATATACATGTCTATATGTATATATATTATACATACAT GTCTGTATGTATACA	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	2/8			chr21	TogoVar
SDCCAG8_chr1_243251041_243505091	243480604	A A	ATGGATGG others(586): Show ATGGATGGATGGATGGGTGGGATGGATGGGGGATGGATGGATGGGTGGGA TGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATGGATG GGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGATGGA TGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGATGGA TGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGG TGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGGATGG ATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATG GATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGATGGA TGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGAT GGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGAT GGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00438.hp1 others(46): Show HG00140.hp2 HG00423.hp1 HG00438.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01516.hp2 HG01993.hp2 HG02056.hp2 HG02109.hp2 HG02155.hp1 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG03139.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03942.hp2 HG04115.hp2 HG04204.hp2 NA18940.hp1 NA18946.hp1 NA18946.hp2 NA18959.hp1 NA18959.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19065.hp1 NA19065.hp2 NA19079.hp1 NA19079.hp2 NA20752.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0004t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0163 a0001c0001t0002g0077 a0001c0001t0002g0099 a0001c0001t0002g0103 a0001c0002t0001g0049 a0001c0002t0001g0138 a0001c0002t0002g0090 a0001c0002t0002g0091 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0118 a0002c0003t0001g0146 a0002c0003t0001g0170 a0002c0003t0001g0178 a0002c0003t0001g0182 a0002c0004t0001g0177 a0006c0010t0001g0133	49	50	0.9800	593	c.198 others(612): Show c.1986-8391_1986-8390insGATGGATGGGGGATGGATGGATGGGT GGGATGGATGGATGGATGGGTGGGATGGATGAATGGGGGATGGATGGATG GATGGGTGGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGATGGATGGGTGGGATGGATGGATGGGTGGGTGGGA TGGATGGGTGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGATGGA TGGATGGATGGTTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGA TGGGTGGTATGGATGGATGGGTGGTATGGATGGATGGGTGTGATGGATGG ATGGATGGGTGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGG GATGGATGGATGGATGGATGGATGGATGGGATGGATGAATGGGGGATGGA TGGATGGGGGATGGATGGATGGATGGGTGGGATGGATGGATGGGTGGGAT GGATGGATGGATGGATGGATGGGTGGGATGGATGGATGGATGGGTGGGAT GGATGGATGGATGGGTGGATGGATGGGTGGGATGGATGGATGGATGGGTG GATGGATGGATGGGTGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(586): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCCCCCCT CCCCTCCCCCCCCACCCGTTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0053 a0001c0001t0011g0053	1	40	0.0250	593	c.77- others(610): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC CCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCTCCCCCTTTCCCTT CCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(586): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTC CCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	40	0.0250	593	c.77- others(610): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCTCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT CCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(586): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACCCCTTCC CCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCCTCCCCT CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCCCCCCT CCCCTCCCCCCCCACCCGTTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0006 a0001c0001t0018g0006	1	45	0.0222	593	c.22+ others(610): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCACCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCACC CCTTCCCCCTCCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCCATCCCC TCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCACC CCTTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCC CCCCCTCCCCTCCCCCCCCACCCGTTCCCCCTCCCCTCCCCCTTTCCCTT CCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(586): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCT CCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCT CCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCTCCCCCT CCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTC CCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	45	0.0222	593	c.22+ others(610): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTACCTCCTCCCCT CCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCCCTCCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCACCCCTTCCCCCT CCCCCTCCCCTCCCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCTCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT CCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354936	C C	CGTTGGGG others(586): Show CGTTGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAAGGTTGG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	336	0.0030	593	c.134 others(610): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAAGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGAAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SGSM2_chr17_2332501_2386054	2354936	C C	CGTTGGGG others(586): Show CGTTGGGGAAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG GTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGG TTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGT TGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTT GGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTG GGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGGGTTGG GGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGCGTTGGG GGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTAAGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01099.hp2 others(42): Show HG00099.hp1 HG00558.hp1 HG01099.hp2 HG02056.hp1 HG02083.hp1 HG02132.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02976.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG04204.hp1 NA18522.hp1 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp1 NA18973.hp2 NA18990.hp2 NA19003.hp2 NA19004.hp2 NA19010.hp1 NA19011.hp1 NA19065.hp2 NA19077.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0018 a0024	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0012 a0004c0010 a0018c0035 a0024c0021	a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0003t0016 a0001c0005t0002 a0002c0012t0001 a0004c0010t0001 a0018c0035t0001 a0024c0021t0001	a0001c0001t0001g0079 a0001c0001t0001g0117 a0001c0001t0001g0118 others(40): Show a0001c0001t0001g0079 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0329 a0001c0001t0001g0346 a0001c0001t0001g0350 a0001c0001t0009g0352 a0001c0003t0001g0052 a0001c0003t0001g0190 a0001c0003t0001g0223 a0001c0003t0001g0291 a0001c0003t0001g0305 a0001c0003t0001g0322 a0001c0003t0001g0335 a0001c0003t0001g0344 a0001c0003t0001g0345 a0001c0003t0001g0349 a0001c0003t0001g0351 a0001c0003t0001g0353 a0001c0003t0001g0360 a0001c0003t0001g0361 a0001c0003t0001g0362 a0001c0003t0001g0370 a0001c0003t0001g0371 a0001c0003t0001g0372 a0001c0003t0001g0376 a0001c0003t0001g0377 a0001c0003t0001g0383 a0001c0003t0001g0384 a0001c0003t0001g0390 a0001c0003t0002g0005 a0001c0003t0002g0271 a0001c0003t0002g0272 a0001c0003t0002g0378 a0001c0003t0016g0264 a0001c0005t0002g0005 a0001c0005t0002g0014 a0001c0005t0002g0270 a0002c0012t0001g0124 a0002c0012t0001g0369 a0004c0010t0001g0347 a0018c0035t0001g0298 a0024c0021t0001g0170	45	380	0.1184	593	c.134 others(610): Show c.134-6689_134-6688insGCCCCATATCTTAGAATGGTGGAATCGG GGTGTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGG GTGTAAGGGTTGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGG TGTAAGGGTTGGGGCAGGGACCCCATATCTTAGAATGGTGGAATCGGGGT GTAAGGGTTGGGAAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTG TAAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGT AAGGGTTGGGGCAGGGGCCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGCGTTGGGGGAAGGGACCCCATATCTTAGAATGGTGGAATCGGGGTGTA AGGGTTGGGGAAGGG	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC66A2_chr18_79897420_79956653	79920761	G G	GGGGAGAG others(586): Show GGGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGG AACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGAGGAGAGACAGAACCGAGGGAGAGGTCAGGGTCAGT GAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGA ACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGG TCAAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGA GGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAAC CGAGGGAGAGGTCAGGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTC AAGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGG AGAGACGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGAACCG AGGGAGAGGTCAGGGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAA GGTCAGTGAGGAGAGACGGAACCGAGGGAGAGGTCAAGGTCAGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	220	0.0045	593	c.392 others(610): Show c.392-1362_392-1361insACTGACCTTGACCTCTCCCTCGGTTCCG TCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTG ACCCTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTC CCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTC TCTCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGAC CCTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCC TCGGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCCGTCTC TCCTCACTGACCTTGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCT TGACCTCTCCCTCGGTTCCGTCTCTCCTCACTGACCTTGACCTCTCCCTC GGTTCCGTCTCTCCTCACTGACCCTGACCTCTCCCTCGGTTCTGTCTCTC CTCACTGACCTTGACCTCTCCCTCGGTTCCTGTCTCTCCCCACTGACCCT GACCTCTCCCTCGGTTCCTGTCTCTCCTCACTGACCTTGACCTCTCCCTC GGTTCCGTCTCTCCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLIT3_chr5_168656740_169306139	168726538	G G	GAGGGAGG others(586): Show GAGGGAGGCAGGGAGAGAGGGAGAGGGAGGCAGGGAGGGAGGGAGGGAGA GGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGA GAGGGAGGCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGG GAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGA GGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGG GAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGGA GGGAGGGAGAGGGAGGGTGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGG CAGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGG GAGAGGGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGG CAAGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGA GAGGGAGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGA CGCAGGGGGAGAGGTAGGGAGGGAGAGAGGGAGGGAGGGAGAGA	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0117 a0001c0009t0003g0117	1	2	0.5000	593	c.227 others(612): Show c.2271-2055_2271-2054insTCTCTCCCTCCCTCCCTCTCTCCCTC CCTACCTCTCCCCCTGCGTCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCC TCTCTCCCTGCCTCCCTCTCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTC TCCCTCCCTCCCTCCTTGCCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTC CCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCC ACCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCC ACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTC CCACCCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCC TCCCTCCTTGCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTC CCTCCCTCCTTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCC TCTCTCCCTGCCTCCCT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(586): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATATTATATAAACATATAGTTTATATAATATATAAACATATAG TTTATATAATATATAAACATATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0208 a0001c0001t0010g0208	1	210	0.0048	593	c.12+ others(608): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATATTATATAAACATATAGTTTATATAATATATAAACATATAGTTTATAT AATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACAATATATTATAGTT TATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
TNKS_chr8_9550912_9787346	9771811	A A	AGGGAGGG others(586): Show AGGGAGGGAGAGAGAGGAAGGTCAGGAGGGAGAGATGGAGGAAGGAAGTG AGATGGAGGGAGAGAACGGAGAGGGTGGGAGAGAGGGAGGGAGGGACGAG GGAATGAGTGAGGAGGATGGAGTAAGGGAAAGAGGTGTAGGGAGGCAGAG GGGAAGCGAGGGAGGGAGAGAGAGGAAGGGCGAGAGGGAGGAATGTAGGG TGAGATGGAGGAAGGAAGGGAGACGGACAGAGGGAGAGAGGAAGAGGTAG AGGGAGGGAGGGAGAGAGAATGGAGAGGGTGGGGGAGAGGGAGGGAGAGA GAGGGAGGGAGGGATAAGGGAATGAGTGAGGGAAAGAGAGGTGTAGGGAG GCAGAGGGAGAGAGTGAGAGAGGGAGGGAGGGGGGAGAGTGAGAGGGAGG CAGAGGGAGAGAGTCAGGGAGGGAGAGGGAGAGAGGGAGGGGGAGAGTAA GACAGGGAGGGGGAGAGAGGCAGGGAGAGGAGAGTGGGAGAGGGAGGGGG AGAGTGAGAGGGAGGGAGAGGAGGAGAGAGAGAGGGAGGCAGAGGGAGAG AGTGAGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAATGAGAG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0126 a0001c0001t0018g0126	1	270	0.0037	593	c.389 others(612): Show c.3897+1554_3897+1555insGGAGAGAGAGGAAGGTCAGGAGGGAG AGATGGAGGAAGGAAGTGAGATGGAGGGAGAGAACGGAGAGGGTGGGAGA GAGGGAGGGAGGGACGAGGGAATGAGTGAGGAGGATGGAGTAAGGGAAAG AGGTGTAGGGAGGCAGAGGGGAAGCGAGGGAGGGAGAGAGAGGAAGGGCG AGAGGGAGGAATGTAGGGTGAGATGGAGGAAGGAAGGGAGACGGACAGAG GGAGAGAGGAAGAGGTAGAGGGAGGGAGGGAGAGAGAATGGAGAGGGTGG GGGAGAGGGAGGGAGAGAGAGGGAGGGAGGGATAAGGGAATGAGTGAGGG AAAGAGAGGTGTAGGGAGGCAGAGGGAGAGAGTGAGAGAGGGAGGGAGGG GGGAGAGTGAGAGGGAGGCAGAGGGAGAGAGTCAGGGAGGGAGAGGGAGA GAGGGAGGGGGAGAGTAAGACAGGGAGGGGGAGAGAGGCAGGGAGAGGAG AGTGGGAGAGGGAGGGGGAGAGTGAGAGGGAGGGAGAGGAGGAGAGAGAG AGGGAGGCAGAGGGAGAGAGTGAGAGGGAGAGGGAGAGAGAGGGAGAGGG AGAGAATGAGAGGGGAG	TNKS	ENSG00000173273.17	transcript	ENST00000310430.11	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr8	TogoVar
TWIST2_chr2_238843085_238915534	238870692	C C	CCCCACAC others(586): Show CCCCACACACACCACACCCCACACACACCACACACCACACCCCACACCCC CACCACCCCACACACCACACCCCACACACCCACACCCCACACACCCCACA CCCCCCCACACACCCCACCCCAACACACCACACCCCACACCCACCACACC CCCACACCACCACACCCCCACACACACCCCCCACACCCCACACACCCACA CCCCACACACACCACACCCCCCACACACCACACACCCCACACACACCACC CCCATACACACCACACCCCACACACACCCCACACCCCCCACACACCCACC CCATACACACCACACCCCCACACCACACACACACATCACATCCCACACAC ACATCACATACCACCACACCACACACACACCACACACCCACACCCACACA CACACCCACCACCCACCACACACCCCCACACACCACACCCCACACACACA CATCACATACCACACTCTCATCACATACCACACACAAACACACACACCTA CACACACCACCCCCACACACCACACACCACACACACCCACAACACCCCCT ACCACCACACACCCCACACACACATCAACATAACACACACACAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	191	0.0052	593	c.35 others(612): Show c.35+21960_*35+21961insCCACACACACCACACCCCACACACAC CACACACCACACCCCACACCCCCACCACCCCACACACCACACCCCACACA CCCACACCCCACACACCCCACACCCCCCCACACACCCCACCCCAACACAC CACACCCCACACCCACCACACCCCCACACCACCACACCCCCACACACACC CCCCACACCCCACACACCCACACCCCACACACACCACACCCCCCACACAC CACACACCCCACACACACCACCCCCATACACACCACACCCCACACACACC CCACACCCCCCACACACCCACCCCATACACACCACACCCCCACACCACAC ACACACATCACATCCCACACACACATCACATACCACCACACCACACACAC ACCACACACCCACACCCACACACACACCCACCACCCACCACACACCCCCA CACACCACACCCCACACACACACATCACATACCACACTCTCATCACATAC CACACACAAACACACACACCTACACACACCACCCCCACACACCACACACC ACACACACCCACAACACCCCCTACCACCACACACCCCACACACACATCAA CATAACACACACACATC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466894	A A	AAGAGGTG others(586): Show AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGTGTGTGGGGAGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGAAGGAATAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAG GAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGA GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0005 a0003c0003t0001g0005	1	269	0.0037	593	c.51 others(602): Show c.511_*512insAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGGAATAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGG AGGGAGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		385		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GGAGGGAG others(586): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGA GGGAGAGGGAGAGGCGAGAGGAGAGGGAGAGGGAGAGAGGGAGAGGGAGA GGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGAGGAGAGGG AGAGGGAGAGGGAGAGGAGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAG AGGGAGAGGAGAGGAGAGGGGAGAGGAGGAGAGGGAGAGGGAGAGGGAGA GGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG AGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAT AGGGAGAGGGAGAGGGAGAGGGAGAAGGGAGAGGGAGAGGGAGAGGAGAG AGGGAGAGGGAGGGAGAGGAGAGGGAGAGGGAGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGACAGACAGAGAAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	221	0.0045	593	c.375 others(606): Show c.375-59_375-58insGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGG GAGAGGAGAGGGAGAGGGAGAGGGAGAGGCGAGAGGAGAGGGAGAGGGAG AGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGGAGAGGGAGAGGAGAG GGAGAGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGGAGAGGAGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGAGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGATAGGGAGAGGGAGAGGGAGAGGGAGAAGGGAGAGGG AGAGGGAGAGGAGAGAGGGAGAGGGAGGGAGAGGAGAGGGAGAGGGAGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGACAGAGAAGACAG AGACAGACAGA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
VWA2_chr10_114234254_114299489	114253198	T T	TCCTCTCC others(586): Show TCCTCTCCCCTCCCCCTCCCCATCCTCTCCCCCTCCCCCATCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCC CCCTCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCCTCCCCT CCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCT CCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCC CTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCC TCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCC TCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCC TCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTCC CCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0047 a0003c0003t0010g0047	1	33	0.0303	593	c.53- others(606): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCCTCCCCCATCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTC TCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCC TCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCC CCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCC CCCTCCTCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC CCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTC CCTCTCCCCTC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
VWA2_chr10_114234254_114299489	114253208	T T	TCCCCCTC others(586): Show TCCCCCTCCCCATCCTCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTC TCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCCCTCCCCTCCTCTCCCC TCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCCTCCTCTC CCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTC TCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCCC TCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTGTCCCCCTCCTCTCCCC CTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCC CTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCTC CCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCTCCCCCTCCCC TCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCCTCCCTTCCCCCTCCCT CTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTCCCCCCTCCCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0015 a0006c0006t0015	a0006c0006t0015g0052 a0006c0006t0015g0052	1	228	0.0044	593	c.53- others(606): Show c.53-442_53-441insCCCCTCCCCATCCTCTCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCTCCCCCTCCCCTCCCCCTCCCCTCTCCTCCC CTCCCCTCCTCTCCCCTCCCCTCCCCCTCTCCCCCTCCTCTCCCCTCCCC CTCTCCCCCTCCTCTCCCCTCCCCCTCTCCCCTCCCCCTCTCCCCTCCCC CTCTCTCCTCCCCCTCTCCCCTCCCCCTCTCTCCTCCCCCTCTCCCCTCC CCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCTCCTCTCCCCCTCCCCCTG TCCCCCTCCTCTCCCCCTCTCCCCTCCCCCTCTCCTCTCCCCCTCCCCCG TCCCCCTCCTCTCCCCCTCCCCCGTCCCCCTCCTCTCCCCCTCTCCCCCC TCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTCCCCCTC TCCCCTCCCCCTCCCCTCCCCCTCTCCCCCTCCCCCTCCCCTTTCCCCCC TCCCTTCCCCCTCCCTCTCCCCCCTCCCTTCCCCCTCCCTCTCCCCTCTC CCCCCTCCCCC	VWA2	ENSG00000165816.13	transcript	ENST00000392982.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(586): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCT TCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCTTTCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCCTTCCCCC TTCCCCCCTTCCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0172	1	182	0.0055	593	c.-10 others(610): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCT TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCCT TCCCCCTTCCCCCCTTCCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCTCCTTCCCCCCTT CCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZNF182_chrX_47969851_48008989	47971555	A A	ATGTATAT others(586): Show ATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATACGT ATACATATGTATATACACGTGTATACGTATACATATGTATATACACGTGT ATACGTATACATATGTATATACACGTGTATACGTATACATATGTATATAC ACGTGTATACGTATACATATGTATATACACGTGTATACGTATACATATGT ATATACACGTGTATACGTATACATATGTATATACACGTGTATACGTATAC ATATGTATATACACGTGTATACGTATACATATGTATATACACGTGTATAC GTATACATATGTATATACACGTGTATACGTATACATATGTATATACACGT GTATACGTATACATATGTATATACACGTGTATACGTATACATATGTATAT ACACGTGTATATGTATACATATGTATATACACGTGTGTATTATACATATG TATATACACGTGTGTATATGTATACATATGTATATGTATACATATGCATA TACGTGTGTATATGTATACATATGCATATACGTGTGTATATGTATACATA TGCATATACATGTGTGTATATGTATACATATGCATATACATGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02145.hp1 others(6): Show HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02486.hp1 HG02976.hp2 HG03486.hp2 HG03540.hp2 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0002g0112 a0001c0001t0002g0004 a0001c0001t0002g0036 a0001c0001t0002g0112	9	108	0.0833	593	c.46 others(604): Show c.4611_*4612insCACATGTATATGCATATGTATACATATACACACA TGTATATGCATATGTATACATATACACACGTATATGCATATGTATACATA TACACACGTATATGCATATGTATACATATACATATGTATACATATACACA CGTGTATATACATATGTATAATACACACGTGTATATACATATGTATACAT ATACACGTGTATATACATATGTATACGTATACACGTGTATATACATATGT ATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATATAC ATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGTGT ATATACATATGTATACGTATACACGTGTATATACATATGTATACGTATAC ACGTGTATATACATATGTATACGTATACACGTGTATATACATATGTATAC GTATACACGTGTATATACATATGTATACGTATACACGTGTATATACATAT GTATACGTATACACGTGTATATACATATGTATACGTATACACGTGTATAT ACATATGTATACGTATACACGTGTATATACATATGTATACGTATACACGT GTATATACA	ZNF182	ENSG00000147118.12	transcript	ENST00000376943.8	protein_coding		3295		chrX	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(586): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACATATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATATACGTATATATACATATA TACGTATATATATATACGTATATATACATATATACATGTATATATATATA CGTATATATACATATATACATGTATATATATATACGTATATACACATATA TATACATGTATATATATGTGTATATATACATGTATATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	183	0.0055	593	c.-42 others(604): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACATATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATATAC GTATATATACATATATACGTATATATATATACGTATATATACATATATAC ATGTATATATATATACGTATATATACATATATACATGTATATATATATAC GTATATACACATATATATACATGTATATATATGTGTATATATACATGTAT ATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCC2_chr10_99777640_99857594	99838924	C C	CTCACCTC others(587): Show CTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGTGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGG GCGGCTGGCCGGGCGGAGGGTCTGACCCCCCCACCTCCCTCCCGGACAGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCTACCTCCCTCCCGGACGGGG CGGCTGGCCGGGTGGGGGGACTGACCCCCCCATCTCCCTCCCGGACGGGG TGGCTGGACGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCGCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCTCACCTCCCTCCCGGACGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGGA CGGGGCGGCTGGCCGGGGCAGGGGGGCAGACCCCCCCCCCCACCT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	334	0.0030	594	c.361 others(613): Show c.3614+2634_3614+2635insTCACCTCCCGGACGGGGCGGCTGGCC GGGCAGGGGGGCCGACCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGTGCGGCCGGGCAGAG GCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGTCTGACC CCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCTACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGACTGACCC CCCCATCTCCCTCCCGGACGGGGTGGCTGGACGGGCTGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCGCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCCGACCCCCTCACCTCCCTCCCGGACGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGGACGGGGCGGCTGGCCGGGGCAGGGGGGC AGACCCCCCCCCCCACCT	ABCC2	ENSG00000023839.12	transcript	ENST00000647814.1	protein_coding	25/31			chr10	TogoVar
ABR_chr17_998519_1184981	1064625	T T	TTGTTACG others(587): Show TTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGCACTGCTGTTACG TGACTGAGGGCTATGCATGTTCCTCCAGACACTGTTGGTATGTGAACTGA GGGCTATGCATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTAT GCATGTTCCTCTAGACACTGTTATGTGAACTGAGGGTTATGCATGTTCCT CTAGACACTGTTGTTATGTGAAGTGAGGGCTATGCATGTTCCTCTAGACA CTGTTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGT TATGTGAACTGAGGGCTATACATGTTCCTCTAGACACTGCTATTATGTGA ACTGAGGGCTATGCATGTTCCTCTAGACACTGTTGTTACGTGAACTGAGG GCTATGCATGTTCCTCTAGACGCTGTTGTTATGTGAACTGAGGGCTATGC ATGTTCCTCTAGACACTGTTGTTATGTGAACTGAGGGCTATGCATGTTCC TCTAGACACTGTTATGTGAACTGAGGGCTATGCATGTTCCTCTAGATGCT GTTGTTACGTGAACTGAGGGCTATGCATGTTCCTCTAGATGCTGC	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0114 a0001c0001t0073g0114	1	324	0.0031	594	c.118 others(613): Show c.1182+2451_1182+2452insGCAGCATCTAGAGGAACATGCATAGC CCTCAGTTCACGTAACAACAGCATCTAGAGGAACATGCATAGCCCTCAGT TCACATAACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACA ACAGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGCGT CTAGAGGAACATGCATAGCCCTCAGTTCACGTAACAACAGTGTCTAGAGG AACATGCATAGCCCTCAGTTCACATAATAGCAGTGTCTAGAGGAACATGT ATAGCCCTCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCC TCAGTTCACATAACAACAGTGTCTAGAGGAACATGCATAGCCCTCACTTC ACATAACAACAGTGTCTAGAGGAACATGCATAACCCTCAGTTCACATAAC AGTGTCTAGAGGAACATGCATAGCCCTCAGTTCACATAACAACAGTGTCT AGAGGAACATGCATAGCCCTCAGTTCACATACCAACAGTGTCTGGAGGAA CATGCATAGCCCTCAGTCACGTAACAGCAGTGCTAGAGGAACATGCATAG CCCTCAGTTCACGTAACA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	10/22			chr17	TogoVar
ABR_chr17_998519_1184981	1074050	A A	AAGAGTCC others(587): Show AAGAGTCCAGCACACCTGCCACACGCAGGACCCCAGAATCACACAGCTCC ACCCAGCCACGCCCCGAAGAGTCCAGCACACCTGCCACACGCAGGACCCC AGAATCACACAGCTCCACCCAGCCACGCCCCGAAGAGTCCAGCACACCTG CCACACGCAGGACCCCAGAATCACACAGCTCCACCCAGCCACGCCCCGCA GAGTCCAGCACACCTGCCACACGCAGGACCCCAGAATCACACAGCTCCAC CCAGCCACGCCCCGCAGAGTCCAGCACACCTGCCACACGCAGGACCCCAG AATCACACAGCTCCACCCAGCCACGCCCCGAAGAGTCCAGCACACCTGCC ACACGCAGGACCCCAGAATCACACAGCTCCACCCAGCCACGCCCCGCAGA GTCTAGCACACCTGCCACACGCAGGACCCCAGAATCACACAGCTCCACCC AGCCACGCCCCGTAGAGTCCAGCACACCTGCCACACGCAGGACCCCAGAA TCACACAGCTCCACCCAGCCATGCCCTGCAGAGTCTAGCACACCTGCCAC ACGCAGGACCCCAGAATCACACAGCTCCACCCAGCCACGCCCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	321	0.0031	594	c.701 others(609): Show c.701-374_701-373insGCGGGGCGTGGCTGGGTGGAGCTGTGTGAT TCTGGGGTCCTGCGTGTGGCAGGTGTGCTAGACTCTGCAGGGCATGGCTG GGTGGAGCTGTGTGATTCTGGGGTCCTGCGTGTGGCAGGTGTGCTGGACT CTACGGGGCGTGGCTGGGTGGAGCTGTGTGATTCTGGGGTCCTGCGTGTG GCAGGTGTGCTAGACTCTGCGGGGCGTGGCTGGGTGGAGCTGTGTGATTC TGGGGTCCTGCGTGTGGCAGGTGTGCTGGACTCTTCGGGGCGTGGCTGGG TGGAGCTGTGTGATTCTGGGGTCCTGCGTGTGGCAGGTGTGCTGGACTCT GCGGGGCGTGGCTGGGTGGAGCTGTGTGATTCTGGGGTCCTGCGTGTGGC AGGTGTGCTGGACTCTGCGGGGCGTGGCTGGGTGGAGCTGTGTGATTCTG GGGTCCTGCGTGTGGCAGGTGTGCTGGACTCTTCGGGGCGTGGCTGGGTG GAGCTGTGTGATTCTGGGGTCCTGCGTGTGGCAGGTGTGCTGGACTCTTC GGGGCGTGGCTGGGTGGAGCTGTGTGATTCTGGGGTCCTGCGTGTGGCAG GTGTGCTGGACTCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	6/22			chr17	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(587): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	594	c.-10 others(605): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATGATATATAAATATAAATTTTTATATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATTTATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATATATTTATGATATATAAATATAAATTTTTAT ATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
AFF2_chrX_148495617_149005663	148581421	T T	TATACGTA others(587): Show TATACGTATACGTGTACACACATATATATACACGTATATATACGTATACG TGTACACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACACGTATATACGTATACGTGTACACACACATACACGTA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATACGTGTACACACATATACA CGTATACGTGTACACACATATACACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	150	0.0067	594	c.48- others(611): Show c.48-70577_48-70576insTACGTATACGTGTACACACATATATATA CACGTATATATACGTATACGTGTACACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATATACGTATACGTGTACACACACACGTATATATACGTATA CGTGTACACACACACGTATATATACGTATACGTGTACACACACACGTATA TATACGTATACGTGTACACACACACGTATATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACACGTATATACGTATACG TGTACACACACATACACGTATATACGTATACGTGTACACACATATACACG TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACA	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ANXA2_chr15_60342151_60402986	60349939	C C	CAGGGGAA others(587): Show CAGGGGAAGGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCA GGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	180	0.0056	594	c.838 others(609): Show c.838-743_838-742insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT CCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCC CTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCTTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350047	G G	GAGGGGAA others(587): Show GAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGG AAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCA GGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAA GGCAAGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGC	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	184	0.0054	594	c.838 others(609): Show c.838-851_838-850insGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCCCTGC CTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCT CCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ANXA2_chr15_60342151_60402986	60350065	C C	CAGGGGAA others(587): Show CAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGG AAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGA GGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGA GGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGAGAGGGAGGGGAAGGCA AGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAA GGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGG GGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGG GAGGGGAAGGCAGGGAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGG GAGGCAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGG CAGGGAGGGAGGGGAAGGCAGGGAGGGAGGGGAAGGCAGGGAGGG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	100	0.0100	594	c.838 others(609): Show c.838-869_838-868insCCCTCCCTGCCTTCCCCTCCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCT GCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTC CCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTGCCTCCCTGC CTTCCCCTGCCTCCTTGCCTTCCCCTCCCTCTCTGCCTTCCCCTCCCTCC CTGCCTTCCCCTCCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGC CTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCC CTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCT TCCCCTCCCTCCCTGCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCT GCCTTCCCCTGCCTCCCTGCCTTCCCCTCCCTCCCTGCCTTCCCCTGCCT CCCTGCCTTCCCCT	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	11/12			chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(587): Show AATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGC ATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGT TCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCAT CCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCAT TCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCGCTTAACCAT TTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACAC CTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	2	0.5000	594	c.201 others(611): Show c.201-1312_201-1311insTGGGAGGCCGAGGCAGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCA GCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAG CTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAG TGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATC TAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTA AAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTG ACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTT TCCCCCCATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCG CTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTAT AATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCC TGTTATCCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(587): Show AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGC ATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGT TCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCAT CCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCAT TCATCCTATAGGTCTAGATTCACTGTCTTCTTAGGTAACCGCTTAACCAT TTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACAC CTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp2 NA18975.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	3	0.6667	594	c.201 others(611): Show c.201-1312_201-1311insTGGGAGGCCGAGGCGGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCA GCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAG CTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAG TGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATC TAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTA AAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTG ACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTT TCCCCCCATTCATCCTATAGGTCTAGATTCACTGTCTTCTTAGGTAACCG CTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTAT AATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCC TGTTATCCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(587): Show AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGC ATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGT TCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCAT CCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCAT TCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCGCTTAACCAT TTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACAC CTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(100): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00609.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG02040.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18994.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0005 a0005c0004 a0001c0001 a0004c0005 a0005c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0004c0005t0001 a0005c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(40): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0002g0037 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0082 a0001c0001t0004g0084 a0004c0005t0001g0004 a0005c0004t0001g0007	103	104	0.9904	594	c.201 others(611): Show c.201-1312_201-1311insTGGGAGGCCGAGGCGGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCA GCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAG CTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAG TGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATC TAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTA AAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTG ACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTT TCCCCCCATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCG CTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTAT AATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCC TGTTATCCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(587): Show AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGC ATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGT TCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCAT CCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCAT TCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCGTTTAACCAT TTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACAC CTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02559.hp2 HG02622.hp1 others(7): Show HG01081.hp2 HG02559.hp2 HG02622.hp1 HG02818.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0002c0002t0001g0009 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0002c0002t0001g0009 a0002c0002t0001g0083	10	11	0.9091	594	c.201 others(611): Show c.201-1312_201-1311insTGGGAGGCCGAGGCGGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCA GCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAG CTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAG TGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATC TAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTA AAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTG ACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTT TCCCCCCATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCG TTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTAT AATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCC TGTTATCCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(587): Show AATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGC ATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGT TCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCAT CCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCAT TCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCGCTTAACCAT TTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACAC CTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA19030.hp2 HG02630.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0056 a0001c0001t0001g0060	2	3	0.6667	594	c.201 others(611): Show c.201-1312_201-1311insTGGGAGGCCGAGGCGGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTAC TAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCA GCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAG CTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAG TGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATC TAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTA AAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTG ACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTT TCCCCCCATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCG CTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTAT AATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCC TGTTATCCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632166	A A	AATCCCAG others(587): Show AATCCCAGGACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGA TCCAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGG GAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTG AGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCC GTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGC ATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGT TCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCAT CCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCAT TCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGTAACCGCTTAACCAT TTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACAC CTATAATGATTTTCAACAGGCCGGGCACAGGAGCTCATGCCTGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01258.hp1 HG02602.hp2 others(2): Show HG00280.hp1 HG01258.hp1 HG02602.hp2 HG02698.hp1 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0053 a0001c0001t0001g0010 a0001c0001t0001g0053	5	6	0.8333	594	c.201 others(611): Show c.201-1317_201-1316insGACTTTGGGAGGCCGAGGCGGGCAGATT ACGAGGTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAG TTCCAGCTACTCGGGAGGCTGAGGCAGGGGAATGGCATGAACCCAGGAGG CGGAGCTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGA CAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAGAAAAAAAAAAGAATG TAATCTAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCC ATCTAAAGTAGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTT AATTGACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGA CAGTTTCCCCCCATTCATCCTATAGGTGTAGATTCACTGTCTTCTTAGGT AACCGCTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTT CTTATAATGAACACCTATAATGATTTTCAACAGGCCGGGCACAGGAGCTC ATGCCTGTTATCCCAG	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGAP11B_chr15_30621128_30643810	30632169	C C	CCCAGCAC others(587): Show CCCAGCACTTTGGGAGGCCGAGGCGGGCAGATTACGAGGTCAGGAGATCC AGACCATCCTGGCTAACACGGTGAAAACCCCGTCTCTACTAAAAATACAA AACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCCAGCTACTCGGGA GGCTGAGGCAGGGGGAATGGCATGAACCCAGGAGGCGGAGCTTGCAGTGA GCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCCG TCTCAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAATCTAAAAATGCAT ATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCTAAAGTAGGGGTT CATTTGGGCTACTATAGACCAATAATCTAGGTTTTAATTGACATGTCATC CAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAGTTTCCCCCCATT CATCCTATAGGTCTAGATTCACTGTCTTCTTAGGTAACCGCTTAACCATT TTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTTATAATGAACACC TATAATGATTTTCAACAGCGCGGCACAGGAGCTCATGCCTGTTAT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	246	0.0041	594	c.201 others(611): Show c.201-1312_201-1311insTGGGAGGCCGAGGCGGGCAGATTACGAG GTCAGGAGATCCAGACCATCCTGGCTAACACGGTGAAAACCCCGTCTCTA CTAAAAATACAAAACATTAGCTGAGCGTGGTAGCACGCACCTGTAGTTCC AGCTACTCGGGAGGCTGAGGCAGGGGGAATGGCATGAACCCAGGAGGCGG AGCTTGCAGTGAGCCAAAATTGTACCACTGCACTCCAGCCTGGGCGACAG AGTGAGACTCCGTCTCAAAAAAAAAAAAAAGAAAAAAAAAAGAATGTAAT CTAAAAATGCATATGATGAAACTTATCCTTAATTCATTTCCCCTCCATCT AAAGTAGGGGTTCATTTGGGCTACTATAGACCAATAATCTAGGTTTTAAT TGACATGTCATCCAAAAGCAATTATCGAACACCTGGTTGCCTTAGGACAG TTTCCCCCCATTCATCCTATAGGTCTAGATTCACTGTCTTCTTAGGTAAC CGCTTAACCATTTTGCTCTTTAAATGACCTATGAAAGGCTTGATTTTCTT ATAATGAACACCTATAATGATTTTCAACAGCGCGGCACAGGAGCTCATGC CTGTTATCCAGCACTT	ARHGAP11B	ENSG00000285077.4	transcript	ENST00000697964.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
ARHGEF10_chr8_1818926_1963641	1824952	T T	TCCCCGCA others(587): Show TCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTGTTCAC CCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCA CCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCCCACCTGTTTAC TCTGCACCCCAGCTGTCCCCCCCACACCCCACCTGTTCACCCGCACTCCA CCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCACCTGTCC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0059 a0002c0059	a0002c0059t0002 a0002c0059t0002	a0002c0059t0002g0255 a0002c0059t0002g0255	1	192	0.0052	594	c.-48 others(609): Show c.-48+997_-48+998insGCACCCCACCTGTCCCTCCGCACCCCACCT GTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGCCCCCCCGCAC CCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCA CCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGC ACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTC CCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCACACCC CACCTGTTTACTCTGCACCCCAGCTGTCCCCCCCACACCCCACCTGTTCA CCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACCCCAC CTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCCTCCCCA CACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCCCACCTG TTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCCCGCACC CCACCTGTCCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ATP11A_chr13_112685038_112892168	112714047	G G	GACCCCTG others(587): Show GACCCCTGATGGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAA CCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCC CCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCACCGCTGGTCCCA GCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCC CTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCCGAC CCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCTGGTCCCAACCTC CCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCCA CCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGCTGGTCCCAGCCT CCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCCCAGCCTCCCTTC CACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACTCCCCTGACCCCT GATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTCCCAGCCTCCCTT CCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCACTCCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp1 HG02109.hp1 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0017 a0001c0009 a0001c0017	a0001c0009t0075 a0001c0017t0076 a0001c0009t0075 a0001c0017t0076	a0001c0009t0075g0153 a0001c0017t0076g0154 a0001c0009t0075g0153 a0001c0017t0076g0154	2	3	0.6667	594	c.39+ others(611): Show c.39+23601_39+23602insGGCCGTGCCTCCTTTCCACTCCCCCAAC CCCTGGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTC CCTTCCACTCCCCCCACCCCTGATGCCATGCCTCCTTTCCACTCCCCCCA CCGCTGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTG GCCCCAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTT CACTCCCCCGACCCCTGATGCCGTGCCTCCTTTCCACTCCCCCAACCCCT GGTCCCAACCTCCCTTCCGCTCCCCCAACCCCTGATCCCACACCTCCCTT CCACTCCCCCCACCCCTGATGCCATGCCTCCCTTCCACTCCCCCCACCGC TGGTCCCAGCCTCCCTTCCACTCCTCCCACCCGGCTTCCATTCCTGGCCC CAGCCTCCCTTCCACTCCCCCCACCCCTGATCCCACACCTCCCTTTCACT CCCCTGACCCCTGATGCCATGCCTCCCTTCCACTCTCCCCACCCCTGGTC CCAGCCTCCCTTCCACTCCCCCAACCCCTGATCCCACACCTCCCTTCCAC TCCCCCTACCCCTGAT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar

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