Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
DYNC2I1_chr7_158851558_158951189	158928271	T T	TGATCTCA others(311): Show TGATCTCAACTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGTGT AGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	274	0.0037	318	c.248 others(337): Show c.2485+1243_2485+1244insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGA CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGTGTAGCTGGGACTACAGGCGTGCGCCACCATGCCCGGCTAATTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCGATCTCAACTTCTTT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124761401	T T	TAAAATGG others(311): Show TAAAATGGTATGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACGCGGTGAAACCCCGCCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTGGTCCCGGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGGTC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp2 HG03486.hp2 HG02965.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0006 a0001c0001t0006 a0001c0005t0006	a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0005t0006g0159 a0001c0001t0006g0157 a0001c0001t0006g0160 a0001c0005t0006g0159	3	358	0.0084	318	c.875 others(333): Show c.875+898_876-898insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGACCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCCGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGGCGGGGTTTCACCGCGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAACATACCATTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	6/6			chr10	TogoVar
EFNA5_chr5_107371894_107675937	107400303	G G	GTCAAATA others(311): Show GTCAAATATCAAATATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp1 HG02630.hp2 others(6): Show HG01192.hp1 HG02258.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG03225.hp1 HG03471.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0042 others(5): Show a0001c0001t0018 a0001c0001t0019 a0001c0001t0042 a0001c0001t0043 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059	a0001c0001t0018g0064 a0001c0001t0019g0132 a0001c0001t0019g0145 others(6): Show a0001c0001t0018g0064 a0001c0001t0019g0132 a0001c0001t0019g0145 a0001c0001t0042g0007 a0001c0001t0043g0171 a0001c0001t0053g0036 a0001c0001t0054g0140 a0001c0001t0055g0095 a0001c0001t0059g0109	9	190	0.0474	318	c.419 others(337): Show c.419-12533_419-12532insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAATATTTGATATTTGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EIF3E_chr8_108196216_108253717	108198690	A A	AAGCAACT others(311): Show AAGCAACTGTTTTTTTTTTTTTTGTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0175 a0001c0001t0010g0175	1	348	0.0029	318	c.31 others(329): Show c.3194_*3195insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAACAAAAAAAAAAAAAACAGTTGCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding		2525		chr8	TogoVar
EIF4EBP1_chr8_38025534_38065365	38052417	T T	TGCCTGGT others(311): Show TGCCTGGTTAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02280.hp2 others(9): Show HG02055.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp2 HG03098.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0069 others(7): Show a0001c0001t0001g0032 a0001c0001t0001g0041 a0001c0001t0001g0069 a0001c0001t0001g0134 a0001c0001t0001g0160 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0198	12	344	0.0349	318	c.146 others(335): Show c.146-4648_146-4647insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGCCTGGTTAATTTTTT	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4E_chr4_98874276_98934133	98897275	T T	TAAGAATG others(311): Show TAAGAATGCCTTTGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01192.hp2 others(19): Show HG01167.hp2 HG01169.hp2 HG01192.hp2 HG02055.hp1 HG02055.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02717.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 NA18522.hp2 NA19030.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 others(19): Show a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0004g0173 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191	22	300	0.0733	318	c.125 others(335): Show c.125+4600_125+4601insTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCAAAGGCATTCTT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	2/6			chr4	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(311): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00639.hp2 others(37): Show HG00140.hp1 HG00323.hp1 HG00639.hp2 HG01070.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02300.hp1 HG02683.hp1 HG03491.hp1 HG03927.hp1 HG04184.hp1 HG04228.hp2 NA18965.hp2 NA18966.hp1 NA18975.hp2 NA18982.hp1 NA18987.hp2 NA19009.hp1 NA19057.hp2 NA19079.hp2 NA19084.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0005c0012t0002	a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0209 others(37): Show a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0209 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0013g0033 a0001c0001t0013g0034 a0001c0001t0017g0003 a0001c0001t0018g0073 a0005c0012t0002g0005	40	312	0.1282	318	c.-27 others(339): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EIF4G3_chr1_20801479_21181897	21166095	T T	TGACTATA others(311): Show TGACTATAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0211 a0002c0003t0001g0211	1	312	0.0032	318	c.-27 others(339): Show c.-272+10079_-272+10080insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTATAGTC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	2/36			chr1	TogoVar
EML1_chr14_99788413_99947060	99928215	A A	ATGGTGGT others(311): Show ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0134 a0002c0001t0003g0134	1	288	0.0035	318	c.190 others(337): Show c.1909+7355_1909+7356insATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EPB41L2_chr6_130834347_131068245	130854323	T T	TAAATACT others(311): Show TAAATACTTTTTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0309 a0001c0015t0002g0309	1	356	0.0028	318	c.5+ others(333): Show c.5+3807_*5+3808insTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCTCAAAAAGTATTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112322978	T T	TAGAAGAC others(311): Show TAGAAGACAAGAAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01071.hp1 HG01361.hp2 others(2): Show HG00738.hp2 HG01071.hp1 HG01361.hp2 NA18979.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0046 a0001c0002t0001 others(1): Show a0001c0001t0005 a0001c0001t0046 a0001c0002t0001 a0001c0002t0003	a0001c0001t0005g0157 a0001c0001t0046g0104 a0001c0002t0001g0105 others(2): Show a0001c0001t0005g0157 a0001c0001t0046g0104 a0001c0002t0001g0105 a0001c0002t0001g0119 a0001c0002t0003g0101	5	228	0.0219	318	c.100 others(337): Show c.100-15489_100-15488insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACCTTTCTTGTCTTCT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109187443	T T	TGACTGTT others(311): Show TGACTGTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01081.hp1 HG01099.hp2 others(23): Show HG00408.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01934.hp1 HG02004.hp2 HG02523.hp1 HG02602.hp2 HG02698.hp2 HG03834.hp1 NA18945.hp2 NA18956.hp1 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18979.hp1 NA18979.hp2 NA18990.hp1 NA18999.hp1 NA19062.hp1 NA19065.hp2 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0004 a0003c0006 a0003c0008 others(2): Show a0001c0004 a0003c0006 a0003c0008 a0003c0011 a0005c0013	a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 others(11): Show a0001c0004t0001 a0001c0004t0002 a0001c0004t0011 a0001c0004t0014 a0001c0004t0042 a0001c0004t0052 a0001c0004t0055 a0001c0004t0056 a0003c0006t0004 a0003c0008t0001 a0003c0008t0011 a0003c0008t0039 a0003c0011t0001 a0005c0013t0074	a0001c0004t0001g0111 a0001c0004t0001g0122 a0001c0004t0002g0129 others(23): Show a0001c0004t0001g0111 a0001c0004t0001g0122 a0001c0004t0002g0129 a0001c0004t0002g0178 a0001c0004t0002g0184 a0001c0004t0011g0051 a0001c0004t0011g0116 a0001c0004t0011g0119 a0001c0004t0014g0251 a0001c0004t0014g0257 a0001c0004t0014g0260 a0001c0004t0014g0263 a0001c0004t0014g0276 a0001c0004t0014g0283 a0001c0004t0042g0012 a0001c0004t0052g0148 a0001c0004t0055g0212 a0001c0004t0056g0211 a0003c0006t0004g0032 a0003c0008t0001g0025 a0003c0008t0001g0026 a0003c0008t0011g0015 a0003c0008t0011g0022 a0003c0008t0039g0004 a0003c0011t0001g0019 a0005c0013t0074g0314	26	318	0.0818	318	c.230 others(337): Show c.2302-1839_2302-1838insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAGAAACAGTC	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	22/25			chr9	TogoVar
ERAP1_chr5_96769484_96812945	96805012	T T	TAAGTTTT others(311): Show TAAGTTTTTATTTCTTTTTTTTTTTTTTTTTTTTTTGTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02886.hp2 HG02622.hp1 HG02886.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0281 a0004c0004t0001g0282 a0004c0004t0001g0281 a0004c0004t0001g0282	2	416	0.0048	318	c.-17 others(335): Show c.-17-1070_-17-1069insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCACAAAAAAAAAAAAAAAAAAAAAAGAAATAAAAACTT	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding	1/18			chr5	TogoVar
ERBB4_chr2_211370717_212543802	212164961	T T	TCTTTTTC others(311): Show TCTTTTTCGCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03579.hp1 HG03225.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0017 a0001c0001t0011 a0001c0001t0017	a0001c0001t0011g0041 a0001c0001t0017g0029 a0001c0001t0011g0041 a0001c0001t0017g0029	2	56	0.0357	318	c.83- others(335): Show c.83-40059_83-40058insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAATGCGAAAAAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212301698	T T	TGCACATA others(311): Show TGCACATACAATATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02809.hp2 others(5): Show HG01891.hp2 HG02615.hp2 HG02809.hp2 HG02965.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011	a0001c0001t0002g0024 a0001c0001t0003g0040 a0001c0001t0004g0003 others(5): Show a0001c0001t0002g0024 a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0004g0011 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0006g0039 a0001c0001t0011g0042	8	56	0.1429	318	c.83- others(337): Show c.83-176796_83-176795insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAATATTGTATGTGC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	55851188	T T	TTTTTTTT others(311): Show TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGG CCTAGATAATGATTTTTTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 NA19030.hp1 HG01346.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0012 a0002c0003t0003 a0001c0001t0012 a0002c0003t0003	a0001c0001t0012g0023 a0002c0003t0003g0025 a0001c0001t0012g0023 a0002c0003t0003g0025	2	74	0.0270	318	c.256 others(339): Show c.2564+37200_2564+37201insTAAAAAATCATTATCTAGGCCGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ESCO1_chr18_21524284_21605704	21526315	T T	TTGAGTTA others(311): Show TTGAGTTAAAGCATCTACTTCAGTGACTATGACAATAGATGATGGTATTA AGTTAAAAAAAAAAAAAAAAAAGGCAACACCAGTAAGTTCTTTTCTGACC ACTTCATTCCACATATTTTATTTTTACTAGTCCAGTGTATTTTATTTTTA CCAGAACCTCTGAGTCTAGGAGAATACTACTCTAACACTGAAACCTTGGC TTCACTGAAAACAAAACAACAACAGTAAAAATACTGCTAAAGATGACTTT AGGAATTGCCGCTAAGGCCAAAGAAAAAGTCATTCACATAATAAATTCAC TGTGCTCTCAACTATCAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0195 a0002c0002t0012g0195	1	310	0.0032	318	c.40 others(329): Show c.4027_*4028insCTTGATAGTTGAGAGCACAGTGAATTTATTATGT GAATGACTTTTTCTTTGGCCTTAGCGGCAATTCCTAAAGTCATCTTTAGC AGTATTTTTACTGTTGTTGTTTTGTTTTCAGTGAAGCCAAGGTTTCAGTG TTAGAGTAGTATTCTCCTAGACTCAGAGGTTCTGGTAAAAATAAAATACA CTGGACTAGTAAAAATAAAATATGTGGAATGAAGTGGTCAGAAAAGAACT TACTGGTGTTGCCTTTTTTTTTTTTTTTTTTAACTTAATACCATCATCTA TTGTCATAGTCACTGAAGTAGATGCTTTAACTCA	ESCO1	ENSG00000141446.11	transcript	ENST00000269214.10	protein_coding		2968		chr18	TogoVar
EXD3_chr9_137301896_137428162	137355570	T T	TGGAGGAA others(311): Show TGGAGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATG GAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACG GAGGAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGAGGATGGAGGAAGG GAGGATGGAGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGG AGGAAGGAGAAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	82	0.0122	318	c.757 others(333): Show c.757+697_757+698insTTCCTCCTTTCTCCTTCCTCCTTCCTCCTT CCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCTTCCTCCAT CCTCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTCCTCCGTCCTCCTTC CTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCATCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCC TCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EYA1_chr8_71192433_71367069	71334330	T T	TAAAAAAA others(311): Show TAAAAAAATTCACATATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0209 a0001c0002t0002g0209	1	232	0.0043	318	c.125 others(333): Show c.125-157_125-156insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAATATGTGAATTTTTTT	EYA1	ENSG00000104313.20	transcript	ENST00000340726.8	protein_coding	3/17			chr8	TogoVar
FAF1_chr1_50432028_50965267	50846769	T T	TAAAAGAA others(311): Show TAAAAGAATGTGAAGGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG03471.hp1 others(2): Show HG02451.hp2 HG02717.hp2 HG03471.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0020 a0001c0001t0010 a0001c0001t0020	a0001c0001t0010g0179 a0001c0001t0010g0182 a0001c0001t0010g0183 others(2): Show a0001c0001t0010g0179 a0001c0001t0010g0182 a0001c0001t0010g0183 a0001c0001t0010g0184 a0001c0001t0020g0181	5	190	0.0263	318	c.114 others(337): Show c.114+11159_114+11160insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCCCTTCACATTCTTTT	FAF1	ENSG00000185104.21	transcript	ENST00000396153.7	protein_coding	2/18			chr1	TogoVar
FAM193A_chr4_2531647_2737573	2570072	T T	TGAGAGTA others(311): Show TGAGAGTATGACTTTTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGGC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01516.hp1 HG01884.hp2 others(17): Show HG01243.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp2 HG02818.hp2 HG02922.hp1 HG02970.hp1 HG03041.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 NA18906.hp2 NA19043.hp2	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0002 a0002c0011 a0007c0007 a0001c0002 a0002c0011 a0007c0007	a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 others(4): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0013 a0002c0011t0003 a0007c0007t0001 a0007c0007t0003	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(17): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0113 a0001c0002t0001g0240 a0001c0002t0003g0112 a0001c0002t0003g0116 a0001c0002t0003g0119 a0001c0002t0003g0120 a0001c0002t0009g0239 a0001c0002t0013g0117 a0002c0011t0003g0114 a0007c0007t0001g0110 a0007c0007t0001g0115 a0007c0007t0003g0106 a0007c0007t0003g0107 a0007c0007t0003g0108 a0007c0007t0003g0109 a0007c0007t0003g0111 a0007c0007t0003g0118	20	330	0.0606	318	c.256 others(337): Show c.256-25994_256-25993insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCGGCGAGAGTATGACTTTTCTT	FAM193A	ENSG00000125386.16	transcript	ENST00000637812.2	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
FAM219B_chr15_74894992_74911851	74910712	T T	TAAAAGGG others(311): Show TAAAAGGGATGGAGGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGA GGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTA AAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAAAAAAAAAA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCATGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02273.hp2 NA18948.hp2 others(9): Show HG01975.hp2 HG02273.hp2 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18979.hp2 NA19002.hp2 NA19006.hp1 NA19011.hp1 NA19057.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0030 others(1): Show a0001c0001t0005g0010 a0001c0001t0005g0012 a0001c0001t0005g0030 a0001c0001t0005g0055	12	432	0.0278	318	c.-39 others(329): Show c.-3913_-3912insTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCATGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTTTTTTTTTTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCCTCCATCCCTTTT	FAM219B	ENSG00000178761.15	transcript	ENST00000357635.10	protein_coding		3862		chr15	TogoVar
FANCD2_chr3_10021437_10106932	10069459	G G	GGCCCTCG others(311): Show GGCCCTCGCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0122 a0001c0016t0003g0122	1	242	0.0041	318	c.249 others(337): Show c.2494+2142_2494+2143insGCCCTCGCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43			chr3	TogoVar
FASTKD1_chr2_169523508_169578865	169578493	C C	CAAAAAAA others(311): Show CAAAAAAAAAAAAAAAATTAAGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0005 a0002c0011t0005	a0002c0011t0005g0276 a0002c0011t0005g0276	1	392	0.0026	318	c.-49 others(329): Show c.-4968_-4967insTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCTTAATTTTTTTTTTTTTTTT	FASTKD1	ENSG00000138399.18	transcript	ENST00000453153.7	protein_coding		4629		chr2	TogoVar
FBXO8_chr4_174231658_174288667	174273323	T T	TAAAAAAA others(311): Show TAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGCCGGG CATAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAGTTAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	376	0.0027	318	c.-9+ others(335): Show c.-9+10086_-9+10087insTTTTAACTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGCCACTATGCCCGGCTAT TTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTT	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FBXO8_chr4_174231658_174288667	174273323	T T	TAAAAAAA others(311): Show TAAAAAAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGCCGGG CGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGCAGGA GAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAGTTAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01981.hp1 HG02809.hp2 others(4): Show HG01516.hp1 HG01981.hp1 HG02809.hp2 HG02922.hp2 HG03579.hp1 HG03654.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 others(4): Show a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0059 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0003g0072	7	376	0.0186	318	c.-9+ others(335): Show c.-9+10086_-9+10087insTTTTAACTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTAT TTTTTGTAGTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTTTTTTT	FBXO8	ENSG00000164117.14	transcript	ENST00000393674.7	protein_coding	1/5			chr4	TogoVar
FGD2_chr6_37000655_37034069	37000764	C C	CATAACTC others(311): Show CATAACTCCCTTGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	430	0.0023	318	c.-50 others(329): Show c.-5054_-5053insATAACTCCCTTGTAGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAATCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA	FGD2	ENSG00000146192.15	transcript	ENST00000274963.13	protein_coding		4890		chr6	TogoVar
FGF12_chr3_192134390_192732541	192658728	T T	TAAGATTT others(311): Show TAAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTT TCACTCTGTCGCCCAGGCTGGAGCGCAGTGACGCGATCTCGACTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	90	0.0111	318	c.13+ others(335): Show c.13+68452_13+68453insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGT CGAGATCGCGTCACTGCGCTCCAGCCTGGGCGACAGAGTGAAACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATCTT	FGF12	ENSG00000114279.15	transcript	ENST00000445105.7	protein_coding	2/5			chr3	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(311): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC TGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02523.hp2 NA18747.hp2 others(1): Show HG01978.hp2 HG02523.hp2 NA18747.hp2 NA18980.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0177 a0001c0003t0001g0252 others(1): Show a0001c0003t0001g0097 a0001c0003t0001g0177 a0001c0003t0001g0252 a0001c0003t0001g0276	4	370	0.0108	318	c.189 others(337): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(311): Show ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTATATGTATATAAATATATATATTTATATGTATATAAATATATAT ATTTGTATATAAATATATATATTTATATATAAATATATGTTATATATATT TATATATAAATATGTTATATATATTTATATATAAATATATGTTATATATA TTTATATATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	292	0.0034	318	c.52 others(329): Show c.5299_*5300insACATATATTTATATATAAATATATATAACATATA TTTATATATAAATATATATAACATATTTATATATAAATATATATAACATA TATTTATATATAAATATATATATTTATATACAAATATATATATTTATATA CATATAAATATATATATTTATATACATATAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
FLT3_chr13_27998274_28105576	27998752	A A	ATATATAT others(311): Show ATATATATATTTATATGTATATAAATATATATATTTATATGTATATAAAT ATATATATTTATATGTATATAAATATATATATTTATATGTATATAAATAT ATATATTTATATGTATATAAATATATATATTTATATGTATATAAATATAT ATATTTGTATATAAATATATATATTTATATATAAATATATGTTATATATA TTTATATATAAATATGTTATATATATTTATATATAAATATATGTTATATA TATTTATATATAAATATATGTTATATATATTTATATATAAATATATGTTA TATATATATAAATATATGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0138 a0001c0004t0001g0138	1	292	0.0034	318	c.52 others(329): Show c.5299_*5300insACATATATTTATATATATATAACATATATTTATA TATAAATATATATAACATATATTTATATATAAATATATATAACATATATT TATATATAAATATATATAACATATTTATATATAAATATATATAACATATA TTTATATATAAATATATATATTTATATACAAATATATATATTTATATACA TATAAATATATATATTTATATACATATAAATATATATATTTATATACATA TAAATATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATATTTATATACATATAAATATATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4521		chr13	TogoVar
FMN1_chr15_32760544_33199714	32777935	T T	TTATTATA others(311): Show TTATTATATATTATGTATAATATATAATACATTTATTATATATTATGTAT AATATATAATACATTTATTATATATTATGTATAATATATAATACATTTAT TATATATTATGTATAATATATAATACATTTATATTATGTATAATATATAA TACATTTATTATGTATAATATATAATACATTTATATTATGTATAATATAT AATACATTTATTATGTATAATATATAATACATTTATTATATATTATGTAT AATATATAATACATTTATTATGTATAATATATAATACATTTATTATATAT TATGTATAATATATAATAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0144 a0001c0002t0021g0144	1	196	0.0051	318	c.413 others(337): Show c.4131-1017_4131-1016insGTATTATATATTATACATAATATATA ATAAATGTATTATATATTATACATAATAAATGTATTATATATTATACATA ATATATAATAAATGTATTATATATTATACATAATAAATGTATTATATATT ATACATAATATAAATGTATTATATATTATACATAATAAATGTATTATATA TTATACATAATATAAATGTATTATATATTATACATAATATATAATAAATG TATTATATATTATACATAATATATAATAAATGTATTATATATTATACATA ATATATAATAAATGTATTATATATTATACATAATATATAATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FMN1_chr15_32760544_33199714	32821096	T T	TCACAGAT others(311): Show TCACAGATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGCATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02155.hp1 HG03239.hp1 others(2): Show HG02040.hp1 HG02155.hp1 HG03239.hp1 HG03239.hp2 NA19001.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0073 a0003c0007 a0004c0018 others(2): Show a0001c0073 a0003c0007 a0004c0018 a0004c0028 a0007c0011	a0001c0073t0001 a0003c0007t0015 a0004c0018t0080 others(2): Show a0001c0073t0001 a0003c0007t0015 a0004c0018t0080 a0004c0028t0002 a0007c0011t0078	a0001c0073t0001g0172 a0003c0007t0015g0018 a0004c0018t0080g0086 others(2): Show a0001c0073t0001g0172 a0003c0007t0015g0018 a0004c0018t0080g0086 a0004c0028t0002g0155 a0007c0011t0078g0016	5	196	0.0255	318	c.392 others(339): Show c.3929-16765_3929-16764insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATCTGTG	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	17/20			chr15	TogoVar
FMO5_chr1_147181261_147230339	147186626	T T	TAAAGACA others(311): Show TAAAGACATACAAAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACAGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCCAAA AAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp2 HG03834.hp1 HG03942.hp2 HG01074.hp2 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0007g0050 a0001c0002t0004g0051 a0001c0002t0004g0052 a0001c0002t0007g0050	3	406	0.0074	318	c.27 others(327): Show c.273_*274insTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACTGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCCTTTGTATGTCTTT	FMO5	ENSG00000131781.13	transcript	ENST00000254090.9	protein_coding	9/9	273		chr1	TogoVar
FOXP1_chr3_70949708_71588728	71412156	T T	TAAGAGGG others(311): Show TAAGAGGGACAGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp2 HG03139.hp1 others(1): Show HG02109.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 others(1): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0023 a0001c0001t0034	a0001c0001t0002g0051 a0001c0001t0022g0047 a0001c0001t0023g0045 others(1): Show a0001c0001t0002g0051 a0001c0001t0022g0047 a0001c0001t0023g0045 a0001c0001t0034g0040	4	96	0.0417	318	c.-16 others(339): Show c.-167-52913_-167-52912insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGACCTGTCCCTCTT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
FRAS1_chr4_78052323_78549269	78368280	T T	TTCTAATG others(311): Show TTCTAATGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCAGCCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAAGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0038 a0038	a0038c0040 a0038c0040	a0038c0040t0003 a0038c0040t0003	a0038c0040t0003g0016 a0038c0040t0003g0016	1	178	0.0056	318	c.272 others(337): Show c.2723-1543_2723-1542insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTACAGTGGCGCA GCCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGG CTAATTTTTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCG ATCTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAAGCGTGAGCCACCGCGCCCGGCCTCTAATGAATGTTTT	FRAS1	ENSG00000138759.20	transcript	ENST00000512123.4	protein_coding	22/73		INFO_REALIGN_3_PRIME	chr4	TogoVar
FREM1_chr9_14732152_14915428	14877435	T T	TTGTTGTT others(311): Show TTGTTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTTGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0062 a0062	a0062c0169 a0062c0169	a0062c0169t0004 a0062c0169t0004	a0062c0169t0004g0181 a0062c0169t0004g0181	1	346	0.0029	318	c.-26 others(337): Show c.-267-8192_-267-8191insCGGTGGCTCACACCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAACAACA	FREM1	ENSG00000164946.20	transcript	ENST00000380880.4	protein_coding	1/36			chr9	TogoVar
FREM2_chr13_38682077_38892131	38878389	T T	TAAAAACA others(311): Show TAAAAACAAGGCTGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp2 others(21): Show HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01361.hp2 HG01433.hp1 HG01891.hp1 HG01934.hp2 HG02027.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02559.hp1 HG03017.hp1 HG03195.hp2 HG03831.hp1 HG04204.hp2 NA18944.hp1 NA18944.hp2 NA19067.hp2 NA19070.hp1 NA19084.hp1 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0002 a0001c0012 others(6): Show a0001c0001 a0001c0002 a0001c0012 a0002c0006 a0002c0008 a0002c0091 a0003c0005 a0004c0007 a0009c0028	a0001c0001t0001 a0001c0001t0018 a0001c0002t0007 others(9): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0007 a0001c0012t0019 a0001c0012t0050 a0002c0006t0001 a0002c0006t0007 a0002c0008t0001 a0002c0091t0007 a0003c0005t0001 a0004c0007t0001 a0009c0028t0001	a0001c0001t0001g0052 a0001c0001t0001g0164 a0001c0001t0001g0166 others(21): Show a0001c0001t0001g0052 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0018g0057 a0001c0002t0007g0179 a0001c0012t0019g0252 a0001c0012t0050g0258 a0002c0006t0001g0038 a0002c0006t0007g0020 a0002c0006t0007g0237 a0002c0008t0001g0214 a0002c0008t0001g0219 a0002c0091t0007g0040 a0003c0005t0001g0071 a0003c0005t0001g0080 a0003c0005t0001g0087 a0004c0007t0001g0010 a0004c0007t0001g0012 a0009c0028t0001g0143	24	262	0.0916	318	c.885 others(333): Show c.8859+82_8859+83insCCGGGCGCGGTGGCTCACGCCTGTAGTCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTGCTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACCGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAGGCTGG	FREM2	ENSG00000150893.11	transcript	ENST00000280481.9	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
GAB2_chr11_78210293_78422820	78361449	G G	GAAAAAAA others(311): Show GAAAAAAATGGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02809.hp1 others(2): Show HG02109.hp1 HG02451.hp1 HG02809.hp1 HG02965.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0008 a0001c0001t0004 a0001c0003t0008	a0001c0001t0004g0191 a0001c0001t0004g0229 a0001c0001t0004g0261 others(2): Show a0001c0001t0004g0191 a0001c0001t0004g0229 a0001c0001t0004g0261 a0001c0001t0004g0273 a0001c0003t0008g0228	5	288	0.0174	318	c.75+ others(335): Show c.75+56196_75+56197insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCCCATTTTTTT	GAB2	ENSG00000033327.13	transcript	ENST00000361507.5	protein_coding	1/9			chr11	TogoVar
GABBR2_chr9_98283109_98713935	98328029	T T	TGGGATCA others(311): Show TGGGATCAATATTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0098 a0001c0001t0042g0098	1	164	0.0061	318	c.189 others(339): Show c.1894-16825_1894-16824insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATATTGATCCC	GABBR2	ENSG00000136928.7	transcript	ENST00000259455.4	protein_coding	13/18			chr9	TogoVar
GALNT7_chr4_173163811_173328967	173228289	T T	TCTTCTAG others(311): Show TCTTCTAGTCATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01243.hp2 HG01928.hp2 others(4): Show HG00558.hp2 HG01243.hp2 HG01928.hp2 HG02080.hp2 HG03669.hp1 HG04115.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0113 a0001c0001t0001g0118 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0155	7	266	0.0263	318	c.127 others(337): Show c.127-19676_127-19675insTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGC TCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGTGCCCGCCACCATGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCTTCTAGTCATTTCT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GAS6_chr13_113815549_113869076	113826690	T T	TGGCGCCG others(311): Show TGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCAGCGCCGGCC TCGCAGGCACCTTCTCTCCCCGGCCTCCTGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCC GCCTCCTGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCG CCAGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTCCTGGCACTGGC CTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCAC CTTCTCTCCCCGGCCTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 NA20300.hp1 HG02809.hp2 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138	3	143	0.0210	318	c.147 others(335): Show c.1477+305_1477+306insGGGAGGCCGGGGAGAGAAGGTGCCTGCG AGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCAGTGCC AGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAG GCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCAGGAGGCGGGGGAGAG AAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGC TGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GDF2_chr10_47317454_47332588	47319409	T T	TAAATTTT others(311): Show TAAATTTTATCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG03710.hp1 HG00423.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	2	424	0.0047	318	c.-32 others(329): Show c.-3260_-3259insAAATTTTATCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GDF2	ENSG00000263761.3	transcript	ENST00000581492.3	protein_coding		3044		chr10	TogoVar
GET4_chr7_871554_901436	890176	C C	CGGGGTCT others(311): Show CGGGGTCTGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGGTCTGG GAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGG AGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGG GTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGAC GGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTTAGGACGGGTCTGGGAG TGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTCTGGGAGTGGAGGGAGC GTGAGTGGGTGTCAGGACG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18979.hp1 NA19070.hp1 NA18950.hp2 NA18979.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0115 a0001c0002t0003g0095 a0001c0002t0003g0125 a0001c0002t0001g0115 a0001c0002t0003g0095 a0001c0002t0003g0125	3	384	0.0078	318	c.467 others(333): Show c.467-749_467-748insGTCTGGGAGTGGAGGGAGCGTGAGTGGGTG TCAGGACGGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTCAGGACGGG GTCTGGGAGTGGAGGGAGCGAGAGCGGGTGTTAGGACGGGTCTGGGAGTG GAGGGAGCGCGAGCGGGTGTCAGGACGGGGTCTGGGAGTGGAGGGAGCGA GAGCGGGTGTTAGGACGGGTCTGGGAGTGGAGGGAGCGTGAGCGGGTGTT AGGACGGGTCTGGGAGTGGAGGGAGCGCGAGCGGGTGTTAGGACGGGGTC TGGGAGTGGAGGGAGCGTGAGTGGGTGTCAGGACGGGG	GET4	ENSG00000239857.7	transcript	ENST00000265857.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
GFOD1_chr6_13352830_13492600	13459345	C C	CAAAAATT others(311): Show CAAAAATTAACTCAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGAGGCT GAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGA GATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0071 a0001c0001t0080g0071	1	230	0.0044	318	c.253 others(337): Show c.253+27292_253+27293insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCATCTTGAGTTAATTTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13459345	C C	CAAAAATT others(311): Show CAAAAATTAACTCAAGATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCG AGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0050 a0001c0001t0096g0050	1	230	0.0044	318	c.253 others(337): Show c.253+27292_253+27293insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCATCTTGAGTTAATTTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCACTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0197 a0002c0002t0002g0197	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCACTTTGGGAGGTCGGGGCGGGCGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACAGAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCACACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCCGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG00735.hp2 others(6): Show HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01433.hp2 HG01993.hp2 HG02083.hp1 HG03927.hp1 NA18960.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0003t0003 a0001c0001t0001 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0031 a0001c0001t0001g0102 a0001c0001t0001g0199 others(5): Show a0001c0001t0001g0031 a0001c0001t0001g0102 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0003t0002g0078 a0001c0003t0002g0095 a0001c0003t0002g0200 a0001c0003t0003g0101	9	412	0.0218	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACAGGAAAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTLC2_chr22_22639614_22652898	22644846	T T	TTGCACTC others(311): Show TTGCACTCCAGCCTGGGCAACAAGAGCGAAACTTCGTCACACACACACAC ACACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACG CATCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGT TGGAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATAC AAATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGC GGCTGAGACTGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGA TGCGCTGAGATCGCGCCAC	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	412	0.0024	318	c.-35 others(333): Show c.-35+159_-35+160insAGAGCGAAACTTCGTCACACACACACACAC ACACACAAGAAAGAAAGAAAAAATAGTGGCCAGGCGTGGAGGCTCACGCA TCCCAGCATTTTGGGAGGTCGGGGCAGACGGATCACGAGATCAGGAGTTG GAGACCAGCCTGGCCAACATAGTGAAACCCCGTCTCTAGTAAAAATACAA ATTTAGTCAGACATGGTGGCACGCGCCTGTAGTCCCAGCTACTCCGGCGG CTGAGACTGGAGAATCACTTGAACCCGGGGGCGGGGAAGGGATTGTGATG CGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAACA	GGTLC2	ENSG00000100121.14	transcript	ENST00000448514.3	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar

Search by Variant

Search

Search Results