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
CYP51A1_chr7_92107153_92139477	92122220	G G	GAAAGAAA others(309): Show GAAAGAAAAGCACAGATCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCC GAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG00642.hp1 others(90): Show HG00280.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01516.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02071.hp1 HG02145.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18979.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19001.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19060.hp2 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19082.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0009 a0001c0002 a0004c0009	a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 others(1): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0010 a0004c0009t0002	a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0017 others(42): Show a0001c0002t0002g0003 a0001c0002t0002g0007 a0001c0002t0002g0017 a0001c0002t0002g0021 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0061 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0007g0115 a0001c0002t0007g0118 a0001c0002t0010g0055 a0004c0009t0002g0135	93	392	0.2372	316	c.108 others(333): Show c.1086+899_1086+900insTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCAGATCTGTGCTTTTCTTT	CYP51A1	ENSG00000001630.18	transcript	ENST00000003100.13	protein_coding	7/9			chr7	TogoVar
CYTIP_chr2_157409619_157449089	157423466	T T	TAAAAAAA others(309): Show TAAAAAAAAACCAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTGGTGGCGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG03017.hp2 others(2): Show HG00558.hp2 HG00609.hp2 HG03017.hp2 HG03927.hp1 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0155 others(2): Show a0001c0001t0001g0091 a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0176	5	320	0.0156	316	c.546 others(333): Show c.546+3884_546+3885insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGTCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTCTGGTTTTTTTTT	CYTIP	ENSG00000115165.10	transcript	ENST00000264192.8	protein_coding	6/7			chr2	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(309): Show TAGAAAGATCTGGGCCGGCGCGGTGGCTCACGCCTGTAATCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0308 a0001c0003t0004g0308	1	416	0.0024	316	c.500 others(333): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGA TTACAGGCGTGAGCCACCGCGCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(309): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0344 a0001c0008t0001g0344	1	416	0.0024	316	c.500 others(333): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DBX2_chr12_45009672_45056099	45025761	T T	TAGAAAGA others(309): Show TAGAAAGATCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC TGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCATAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	416	0.0024	316	c.500 others(333): Show c.500-1868_500-1867insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTATGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCCAGATCTTTCT	DBX2	ENSG00000185610.6	transcript	ENST00000332700.6	protein_coding	2/3			chr12	TogoVar
DCC_chr18_52335197_53540899	52405375	T T	TCTCATTG others(309): Show TCTCATTGTGGTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0065 a0001c0002t0005g0065	1	114	0.0088	316	c.91+ others(333): Show c.91+64511_91+64512insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTCATTGTGGTTTT	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDX46_chr5_134753779_134836121	134768599	A A	AAGGATTT others(309): Show AAGGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	342	0.0029	316	c.350 others(333): Show c.350+1548_350+1549insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTAGGATTTCT	DDX46	ENSG00000145833.16	transcript	ENST00000452510.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
DECR2_chr16_396885_417482	397709	T T	TGGGGGGG others(309): Show TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	367	0.0027	316	c.-42 others(327): Show c.-4255_-4254insGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4175		chr16	TogoVar
DIAPH3_chr13_59660583_60168928	59890902	T T	TAAAACTG others(309): Show TAAAACTGAACTTTACGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02738.hp2 HG01981.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0061	2	208	0.0096	316	c.236 others(337): Show c.2368-11435_2368-11434insTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCCGTAAAGTTCAGTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	20/27			chr13	TogoVar
DIP2C_chr10_269201_694668	608557	C C	CCCCACAC others(309): Show CCCCACACACACACACACCCCCCCCACACACACACACACCCCCCCACACA CACACACACACCCCCCCCACACACACACCCCCCCCCACACACACACCCCC CCCACACACACACACCCCCCCCACACACACACACCCCCCCCCACACACAC ACACCCCCCCCCACACACACACACCCCCCCCCACACACACACACCCCCCC ACACACACACACCCCCCCCACACACACACCCCCCCCCCCACACACACACA TCCCCCCCCACACACACACACATCCCCCCCCACACACACACACATCCCCC CCCACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0038 a0001c0006t0002g0038	1	88	0.0114	316	c.85+ others(333): Show c.85+80936_85+80937insATGTGTGTGTGTGTGGGGGGGGATGTGT GTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGT GGGGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGTGTG TGTGTGTGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGGG GGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTG TGTGGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGTGGGGGG GTGTGTGTGTGTGTGGGGGGGGTGTGTGTGTGTGTGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DISP2_chr15_40353219_40383621	40380648	G G	GCCATTTT others(309): Show GCCATTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG01361.hp1 others(11): Show HG00735.hp1 HG01106.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02015.hp2 HG02273.hp2 HG02486.hp2 NA18943.hp1 NA18978.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0054 a0001c0007t0055 others(3): Show a0001c0007t0008 a0001c0007t0054 a0001c0007t0055 a0001c0007t0177 a0001c0007t0178 a0001c0007t0179	a0001c0007t0008g0006 a0001c0007t0054g0006 a0001c0007t0055g0006 others(4): Show a0001c0007t0008g0006 a0001c0007t0054g0006 a0001c0007t0055g0006 a0001c0007t0055g0027 a0001c0007t0177g0006 a0001c0007t0178g0006 a0001c0007t0179g0006	14	396	0.0354	316	c.10 others(329): Show c.10330_*10331insCCATTTTTTTGTATTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	DISP2	ENSG00000140323.6	transcript	ENST00000267889.5	protein_coding		2028		chr15	TogoVar
DNAH10_chr12_123757301_123940714	123872645	T T	TAAAAAAA others(309): Show TAAAAAAAATACCCTAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02486.hp1 HG02630.hp2	a0042 a0049 a0042 a0049	a0042c0075 a0049c0039 a0042c0075 a0049c0039	a0042c0075t0001 a0049c0039t0001 a0042c0075t0001 a0049c0039t0001	a0042c0075t0001g0124 a0049c0039t0001g0018 a0042c0075t0001g0124 a0049c0039t0001g0018	2	170	0.0118	316	c.778 others(333): Show c.7786-906_7786-905insATACCCTAGAGGCCGGGCGCGGTGGCTC ACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG TCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	45/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH12_chr3_57288700_57549344	57390424	A A	AATATATA others(309): Show AATATATATATATATATATATATACACATACATATACATATATACACATA CATATACATATATACACATACATATACATATATACACATACATATATATA TACATATATATATACATATATATATACGTATATATATATACGTGTATATA TATATACATATATATATATACGTGTGTATATATATACACATATATATATA CACGTATATATATACACATATATATATACACATATATATATATACACACA TATATATATATACACATATATATATATACACATATATATATATATACACA TATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0163 a0002c0002t0001g0163	1	266	0.0038	316	c.730 others(335): Show c.7305+1447_7305+1448insATATATATATATATATATGTGTATAT ATATATATATGTGTATATATATATATGTGTATATATATATATGTGTGTAT ATATATATATGTGTATATATATATGTGTATATATATACGTGTATATATAT ATGTGTATATATATACACACGTATATATATATATGTATATATATATACAC GTATATATATATACGTATATATATATGTATATATATATGTATATATATAT GTATGTGTATATATGTATATGTATGTGTATATATGTATATGTATGTGTAT ATATGTATATGTATGTGTATATATATATATATATATATAT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAJC17_chr15_40760161_40812473	40808120	G G	GCAAAGCT others(309): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTTT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACTGCA AGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGTGTA GCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01192.hp1 HG01993.hp1 others(3): Show HG00639.hp2 HG01192.hp1 HG01993.hp1 HG02132.hp2 HG02273.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0066 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0018g0055	6	358	0.0168	316	c.-67 others(325): Show c.-675_-674insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCATGGTGGCGCGTGCCTGTAGTCCCAGCTACACAGGAGGCTGAGGCA GGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATTGC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAAAA AAAAAAAAAAAAAATTAAAGAGTAGCTTTG	DNAJC17	ENSG00000104129.10	transcript	ENST00000220496.9	protein_coding		648		chr15	TogoVar
DNAJC9_chr10_73236954_73252255	73240839	T T	TAAGAAAG others(309): Show TAAGAAAGTCCAATTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCGGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0024 a0001c0002t0003g0024	1	396	0.0025	316	c.25 others(327): Show c.2560_*2561insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCCGAATTGGACTTTCTT	DNAJC9	ENSG00000213551.7	transcript	ENST00000372950.6	protein_coding		1114		chr10	TogoVar
DNM2_chr19_10713079_10836903	10758403	T T	TTCCTTCC others(309): Show TTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCC TTCCCTCCCTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0261 a0001c0002t0002g0261	1	278	0.0036	316	c.162 others(333): Show c.162-1332_162-1331insTTCCCTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCC CTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCC CTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCT CCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DNM2_chr19_10713079_10836903	10758435	C C	CTCCCTCC others(309): Show CTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCT CCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCC TTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCCTCCCTCCCTCCTTCCCTCCTTCCTTCC CTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTT CCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCTTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0052 a0001c0002t0002g0052	1	278	0.0036	316	c.162 others(333): Show c.162-1260_162-1259insCTCCCTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCT CCCTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCC CTCCCTCCCTCCTTCCCTCCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCT CCTTCCCTCCCTCCTTCCTTCCCTCCTTCCCTCCCTCCTTCCCTCCCTCC TTCCTTCCCTCCCTCCTTCCCTCCCTCCTTCCTTCCCTCCTTCCTTCCCT CCTTCCTTCCCTCCCTCCTTCCTTCCCTCCCTCCTTCC	DNM2	ENSG00000079805.19	transcript	ENST00000389253.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(309): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATCATATATATCATATATATGATATATA TCATATATATCATATATATGATATATATCATATATATCATATATATCATA TATATCATATATATGATATATATCATATATATCATATATATCATATATAT CATATATATCATATATATCATATATATGATATATATATCATATATATCAT ATATATCATATATATGATATATATATCATATATATCATATATATCATATA TATGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	212	0.0047	316	c.316 others(335): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATCATATATATCATATATATCATATATATCAT ATATATCATATATATGATATATATCATATATATCATATATATGATATATA TCATATATATCATATATATCATATATATCATATATATGATATATATCATA TATATCATATATATCATATATATCATATATATCATATATATCATATATAT GATATATATATCATATATATCATATATATCATATATATGATATATATATC ATATATATCATATATATCATATATATGATATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(309): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01261.hp2 HG01978.hp2 others(9): Show HG01243.hp1 HG01261.hp2 HG01978.hp2 HG01981.hp1 HG02129.hp1 HG02148.hp2 HG02965.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18962.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0001c0012 others(5): Show a0001c0005 a0001c0008 a0001c0012 a0001c0018 a0002c0006 a0002c0007 a0002c0010 a0002c0013	a0001c0005t0007 a0001c0008t0073 a0001c0012t0004 others(7): Show a0001c0005t0007 a0001c0008t0073 a0001c0012t0004 a0001c0018t0009 a0002c0006t0002 a0002c0007t0002 a0002c0010t0017 a0002c0013t0018 a0002c0013t0029 a0002c0013t0048	a0001c0005t0007g0146 a0001c0008t0073g0116 a0001c0012t0004g0031 others(9): Show a0001c0005t0007g0146 a0001c0008t0073g0116 a0001c0012t0004g0031 a0001c0018t0009g0192 a0002c0006t0002g0117 a0002c0006t0002g0169 a0002c0007t0002g0099 a0002c0007t0002g0210 a0002c0010t0017g0102 a0002c0013t0018g0035 a0002c0013t0029g0120 a0002c0013t0048g0189	12	210	0.0571	316	c.131 others(335): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK5_chr8_25179689_25420711	25315130	A A	AATATAAA others(309): Show AATATAAAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACAGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCGCGCCATTCTCCTGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0005 a0002c0007t0002g0005	1	210	0.0048	316	c.131 others(335): Show c.1319-1873_1319-1872insAAAAATTCTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTTGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCGC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCATAT	DOCK5	ENSG00000147459.18	transcript	ENST00000276440.12	protein_coding	13/51		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOK6_chr18_69395888_69854087	69492816	T T	TTGGTGGG others(309): Show TTGGTGGGCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp2 HG02027.hp1 others(2): Show HG01109.hp2 HG01175.hp2 HG02027.hp1 HG02698.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0035 a0001c0002t0006 a0001c0002t0007 others(2): Show a0001c0001t0035 a0001c0002t0006 a0001c0002t0007 a0001c0002t0016 a0001c0003t0005	a0001c0001t0035g0136 a0001c0002t0006g0141 a0001c0002t0007g0142 others(2): Show a0001c0001t0035g0136 a0001c0002t0006g0141 a0001c0002t0007g0142 a0001c0002t0016g0109 a0001c0003t0005g0112	5	170	0.0294	316	c.67- others(333): Show c.67-71657_67-71656insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGTGTGAGCCACCGCGCCCGGCCTGGTGGGCTTTTTT	DOK6	ENSG00000206052.11	transcript	ENST00000382713.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
DOT1L_chr19_2158933_2237578	2183926	T T	TTGGTGCT others(309): Show TTGGTGCTTTTTTATTTTTATTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0175 a0002c0004t0001g0175	1	378	0.0027	316	c.126 others(333): Show c.126-1915_126-1914insTTTTATTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGGTGCTTTTTTAT	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2183926	T T	TTGGTGCT others(309): Show TTGGTGCTTTTTTATTTTTTATTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02074.hp2 HG02040.hp2 HG02074.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0012 a0007c0011t0012	a0007c0011t0012g0173 a0007c0011t0012g0201 a0007c0011t0012g0173 a0007c0011t0012g0201	2	378	0.0053	316	c.126 others(333): Show c.126-1915_126-1914insTTTTTATTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGGTGCTTTTTTAT	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DOT1L_chr19_2158933_2237578	2183926	T T	TTGGTGCT others(309): Show TTGGTGCTTTTTTATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0164 a0002c0004t0001g0164	1	378	0.0027	316	c.126 others(333): Show c.126-1915_126-1914insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTGGTGCTTTTTTAT	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89634700	C C	CTCCTTTC others(309): Show CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	250	0.0040	316	c.105 others(333): Show c.105-1208_105-1207insTCCTTTCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCT TCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(309): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTG AGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGC CCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCT GTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGG GGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGG GTGGGGGCCCTGCCTAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0130 a0003c0004t0001g0130	1	392	0.0026	316	c.279 others(331): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGA GGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCC CTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTG CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP10_chr2_114437641_115850780	114633146	T T	TAAAATGG others(309): Show TAAAATGGAAATCAGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02896.hp2 HG02922.hp2 HG02280.hp1 HG02896.hp2 HG02922.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0003 a0005c0008 a0001c0002 a0003c0003 a0005c0008	a0001c0002t0001 a0003c0003t0003 a0005c0008t0010 a0001c0002t0001 a0003c0003t0003 a0005c0008t0010	a0001c0002t0001g0004 a0003c0003t0003g0002 a0005c0008t0010g0036 a0001c0002t0001g0004 a0003c0003t0003g0002 a0005c0008t0010g0036	3	56	0.0536	316	c.60+ others(335): Show c.60+190321_60+190322insGGCCGGGCGCGGTGGCTCACACCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATGGAAATCA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115076289	T T	TGAGATCC others(309): Show TGAGATCCTTTTTCTTTCTTTTTTTTTTTTTTCCGAGACGGAGTCTCGCT CTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCGCTGCAAGCT CTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTCTATTTTTTAA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCCGAC CTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0033 a0002c0001t0001g0033	1	56	0.0179	316	c.61- others(335): Show c.61-232936_61-232935insTTCTTTTTTTTTTTTTTCCGAGACGG AGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCG CTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCA GAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTCT ATTTTTTAAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTTCCGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGAGATCCTTTTTCT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115076289	T T	TGAGATCC others(309): Show TGAGATCCTTTTTCTTTCTTTTTTTTTTTTTTCCGAGACGGAGTCTCGCT CTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCGCTGCAAGCT CTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCAGAGTAGCTG GGACTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTCTATTTTTTAA GTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTTCCGAC CTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp1 HG02109.hp1 others(12): Show HG01175.hp1 HG01243.hp1 HG02109.hp1 HG02896.hp2 HG03098.hp2 HG03139.hp1 NA18906.hp1 NA18906.hp2 NA18970.hp2 NA18986.hp1 NA19043.hp1 NA19043.hp2 NA19079.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0004 a0002c0001 others(3): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003 a0004c0005 a0006c0006	a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0004 a0001c0004t0007 a0001c0004t0008 a0002c0001t0002 a0003c0003t0001 a0004c0005t0003 a0004c0005t0012 a0006c0006t0006	a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0028 others(12): Show a0001c0002t0001g0004 a0001c0002t0001g0012 a0001c0002t0001g0028 a0001c0002t0001g0035 a0001c0002t0001g0041 a0001c0002t0002g0005 a0001c0004t0004g0013 a0001c0004t0007g0055 a0001c0004t0008g0045 a0002c0001t0002g0011 a0002c0001t0002g0032 a0003c0003t0001g0046 a0004c0005t0003g0007 a0004c0005t0012g0031 a0006c0006t0006g0003	15	56	0.2679	316	c.61- others(335): Show c.61-232936_61-232935insTTCTTTTTTTTTTTTTTCCGAGACGG AGTCTCGCTCTGTCCCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCG CTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCA GAGTAGCTGGGACTACAGGCGCTCGCCACCACGCCCGGCTAATTTTTTCT ATTTTTTAAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTTCCGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGAGATCCTTTTTCT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP6_chr7_154047398_154899285	154778948	C C	CCATCATC others(309): Show CCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATCATCA CCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCACCACCA CCACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCACCGCCA GCATCACCACCATCACCACCACCACCACCACAACTACCCCCACCATCACC TCCATCACCTCCACAACCTCTACCACCACCACCACCATCATCACCTCCAC CACCATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCAC CACCATCACCCCCCCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0018 a0002c0013t0018	a0002c0013t0018g0026 a0002c0013t0018g0026	1	38	0.0263	316	c.113 others(335): Show c.1136+6008_1136+6009insTCATCACCTCCACCACCATCACCACT ATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCC CCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCA CCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACC ACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCAC CACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCAT CATCACCACCTCCACCACCACCACCATCACCCCCCCATCA	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPY19L4_chr8_94714900_94798836	94782492	T T	TTACTGTG others(309): Show TTACTGTGGCCATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	290	0.0035	316	c.171 others(335): Show c.1716-1162_1716-1161insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTTACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTACTGTGGCCATTTTT	DPY19L4	ENSG00000156162.16	transcript	ENST00000414645.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
EARS2_chr16_23515754_23562350	23521764	T T	TGACCACT others(309): Show TGACCACTCACTTTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01070.hp2 HG01952.hp2 others(1): Show HG00741.hp1 HG01070.hp2 HG01952.hp2 HG02148.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0012 a0001c0003 a0006c0012	a0001c0003t0007 a0006c0012t0007 a0001c0003t0007 a0006c0012t0007	a0001c0003t0007g0010 a0001c0003t0007g0039 a0006c0012t0007g0032 a0001c0003t0007g0010 a0001c0003t0007g0039 a0006c0012t0007g0032	4	286	0.0140	316	c.26 others(327): Show c.2606_*2607insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAACAAAGTGAGTGGTC	EARS2	ENSG00000103356.18	transcript	ENST00000449606.7	protein_coding	9/9	2606		chr16	TogoVar
EBF1_chr5_158690920_159104916	158742744	T T	TAAAAAAT others(309): Show TAAAAAATTCTACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCACGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTA GCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0160 a0001c0001t0021g0160	1	196	0.0051	316	c.103 others(337): Show c.1037-11588_1037-11587insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCGTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCGGTAGAATTTTTT	EBF1	ENSG00000164330.18	transcript	ENST00000313708.11	protein_coding	10/15			chr5	TogoVar
ECM2_chr9_92490315_92540990	92520052	A A	AGGGAAGA others(309): Show AGGGAAGATTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0188 a0001c0017t0001g0188	1	400	0.0025	316	c.293 others(333): Show c.293-2178_293-2177insGGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAGAAATCTTCCC	ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	2/9			chr9	TogoVar
EGF_chr4_109907883_110018766	110013803	G G	GCCTTGAT others(309): Show GCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0010 a0004c0004t0010	a0004c0004t0010g0287 a0004c0004t0010g0287	1	388	0.0026	316	c.23 others(327): Show c.2348_*2349insCCTTGATTTCTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGC	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding		38		chr4	TogoVar
ELANE_chr19_847303_861243	861199	T T	TCTGCACC others(309): Show TCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGA CCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCT CTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCCA GCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACC CTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCC ACCCCCTGCACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCT CGGAGCCCCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02897.hp1 others(2): Show HG02258.hp2 HG02451.hp1 HG02897.hp1 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0047 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0047	5	403	0.0124	316	c.50 others(327): Show c.5035_*5036insCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCT CCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGGT CTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACC CTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCC CACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGC GCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCTAGCCTCGAC CTCTCTTGCTGCGCTCGGAGCCCCCCCACCCC	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4957		chr19	TogoVar
ELANE_chr19_847303_861243	861199	T T	TCTGCACC others(309): Show TCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCTCCTGCTGCATGGGGA CCCCGCCCCACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCT CTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCCA GCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACC CTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGTGCTCGGAGCCCCCCC ACCCCCTGCACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGCGCT CGGAGCCCCCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	403	0.0025	316	c.50 others(327): Show c.5035_*5036insCTGCACCCTCACCCCGGGTCCAGCCTCGAACTCT CCTGCTGCATGGGGACCCCGCCCCACAACCCCCACACCCTCACCCCGGGT CTAGCCTCGACCTCTCTTGCTGCGCTCGGAGCCCCCCCACCCCCTGCACC CTCACCCCGGGTCCAGCCTCGACCTCTCCTGCTGCATGGGGACCCCGCCC CACAACCCCCACACCCTCACCCCGGGTCTAGCCTCGACCTCTCTTGCTGT GCTCGGAGCCCCCCCACCCCCTGCACCCTCACCCCGGGTCTAGCCTCGAC CTCTCTTGCTGCGCTCGGAGCCCCCCCACCCC	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		4957		chr19	TogoVar
EML5_chr14_88607431_88797953	88724382	T T	TAAGAAGA others(309): Show TAAGAAGACCATTTTGGGCCGGGCGCGGTGGCTCACGCCTGTGGTCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG03453.hp2 HG02451.hp1 HG02723.hp1 HG03453.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0015 a0003c0005t0015	a0003c0005t0015g0013 a0003c0005t0015g0014 a0003c0005t0015g0015 a0003c0005t0015g0013 a0003c0005t0015g0014 a0003c0005t0015g0015	3	332	0.0090	316	c.118 others(335): Show c.1187+2158_1187+2159insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGACCA CAGGCGTGAGCCACCGCGCCCGGCCCAAAATGGTCTTCTT	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	8/43			chr14	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(309): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(44): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01167.hp2 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01517.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG02922.hp1 HG02976.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG04115.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18950.hp2 NA19056.hp2 NA19085.hp1 NA19240.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0003c0013 a0007c0031	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0036 a0001c0001t0042 a0001c0001t0055 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0010 a0001c0002t0013 a0001c0002t0020 a0001c0002t0044 a0001c0003t0002 a0001c0004t0005 a0001c0005t0001 a0001c0005t0003 a0001c0005t0006 a0001c0006t0018 a0001c0006t0051 a0001c0009t0005 a0001c0009t0008 a0003c0013t0005 a0007c0031t0053	a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0003g0145 others(44): Show a0001c0001t0001g0202 a0001c0001t0001g0211 a0001c0001t0003g0145 a0001c0001t0004g0259 a0001c0001t0005g0033 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0070 a0001c0001t0005g0215 a0001c0001t0005g0241 a0001c0001t0007g0238 a0001c0001t0008g0112 a0001c0001t0036g0174 a0001c0001t0042g0198 a0001c0001t0055g0251 a0001c0002t0001g0021 a0001c0002t0001g0041 a0001c0002t0001g0214 a0001c0002t0001g0219 a0001c0002t0005g0230 a0001c0002t0006g0055 a0001c0002t0010g0025 a0001c0002t0013g0022 a0001c0002t0013g0023 a0001c0002t0013g0024 a0001c0002t0020g0162 a0001c0002t0020g0163 a0001c0002t0044g0210 a0001c0003t0002g0240 a0001c0004t0005g0222 a0001c0005t0001g0015 a0001c0005t0001g0079 a0001c0005t0001g0088 a0001c0005t0001g0090 a0001c0005t0001g0093 a0001c0005t0001g0221 a0001c0005t0003g0121 a0001c0005t0006g0086 a0001c0006t0018g0039 a0001c0006t0018g0040 a0001c0006t0051g0038 a0001c0009t0005g0205 a0001c0009t0008g0106 a0001c0009t0008g0133 a0003c0013t0005g0035 a0003c0013t0005g0036 a0007c0031t0053g0165	47	264	0.1780	316	c.243 others(335): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(309): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0218 a0001c0002t0001g0218	1	264	0.0038	316	c.243 others(335): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(309): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCACGCCATTCTTCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02723.hp2 others(4): Show HG02055.hp1 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG03041.hp1 NA18906.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0010 a0001c0002t0046 others(2): Show a0001c0002t0001 a0001c0002t0010 a0001c0002t0046 a0001c0005t0001 a0001c0005t0010	a0001c0002t0001g0072 a0001c0002t0010g0010 a0001c0002t0010g0056 others(4): Show a0001c0002t0001g0072 a0001c0002t0010g0010 a0001c0002t0010g0056 a0001c0002t0010g0071 a0001c0002t0046g0051 a0001c0005t0001g0052 a0001c0005t0010g0060	7	264	0.0265	316	c.243 others(335): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTTCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54889450	T T	TAAAGTCT others(309): Show TAAAGTCTGCCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGC TCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0081 a0001c0005t0001g0081	1	264	0.0038	316	c.243 others(335): Show c.2439-1589_2439-1588insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCATGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCAAAGTCTGCCTTTTT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENTPD5_chr14_73958230_74024288	73978270	T T	TAAAAATG others(309): Show TAAAAATGGACGTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAG CCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACACGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02622.hp1 HG02922.hp1 others(2): Show HG02258.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0011 a0001c0001t0022	a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0133 others(2): Show a0001c0001t0011g0131 a0001c0001t0011g0132 a0001c0001t0011g0133 a0001c0001t0011g0134 a0001c0001t0022g0137	5	380	0.0132	316	c.442 others(331): Show c.442-897_442-896insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG TGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGACGTCCATTTTT	ENTPD5	ENSG00000187097.13	transcript	ENST00000334696.11	protein_coding	6/15			chr14	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(309): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGC CACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	428	0.0023	316	c.83+ others(329): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAC CCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCG CCTCGGCCTCCCAAAGTGCTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EPB41L4A_chr5_112157619_112424277	112322978	T T	TAGAAGAC others(309): Show TAGAAGACAAGAAAGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGA GATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	228	0.0044	316	c.100 others(335): Show c.100-15489_100-15488insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCACCTTTCTTGTCTTCT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
ERBB4_chr2_211370717_212543802	211843607	T T	TAAAAATG others(309): Show TAAAAATGTTTTTCTAGACATCCTTGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0019 a0001c0002t0016g0019	1	56	0.0179	316	c.422 others(335): Show c.422-55449_422-55448insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCAAGGATGTCTAGAAAAACATTTTT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	3/27			chr2	TogoVar
ERC2_chr3_55503311_56473467	55851188	T T	TTTTTTTT others(309): Show TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC TAGATAATGATTTTTTA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG03710.hp1 HG01069.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0059 a0001c0001t0005g0053 a0001c0001t0001g0059 a0001c0001t0005g0053	2	74	0.0270	316	c.256 others(337): Show c.2564+37200_2564+37201insTAAAAAATCATTATCTAGGCCGGG CGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC GGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACC CCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCC TGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERMP1_chr9_5779572_5838117	5823732	T T	TTGGTTCA others(309): Show TTGGTTCAAAATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03098.hp2 HG03209.hp1 others(3): Show HG02647.hp1 HG03098.hp2 HG03209.hp1 HG06807.hp2 NA18522.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0012 a0001c0003t0016 a0001c0010t0024 a0001c0003t0012 a0001c0003t0016 a0001c0010t0024	a0001c0003t0012g0063 a0001c0003t0012g0064 a0001c0003t0012g0065 others(2): Show a0001c0003t0012g0063 a0001c0003t0012g0064 a0001c0003t0012g0065 a0001c0003t0016g0015 a0001c0010t0024g0177	6	378	0.0159	316	c.874 others(331): Show c.874+163_874+164insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAATTTTGAACCA	ERMP1	ENSG00000099219.15	transcript	ENST00000339450.10	protein_coding	4/14			chr9	TogoVar
ERP44_chr9_99974185_100104000	100087012	T T	TAAAAAAA others(309): Show TAAAAAAAAAAACTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp2 HG02895.hp1 others(8): Show HG02451.hp2 HG02572.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0016 a0002c0003t0004	a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 others(8): Show a0001c0001t0003g0084 a0001c0001t0003g0085 a0001c0001t0003g0106 a0001c0001t0003g0109 a0001c0001t0003g0215 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0217 a0001c0001t0012g0087 a0001c0001t0016g0092 a0002c0003t0004g0216	11	220	0.0500	316	c.57+ others(333): Show c.57+11771_57+11772insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCAAAGTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ESF1_chr20_13709325_13789919	13723498	T T	TCCTAGAT others(309): Show TCCTAGATGATATTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTG CTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAG CTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGCGCCCGCCACCACGCCCAGCTATTTTTTTGTATTTTTA GTAGAGACGGAGTTTCACTGTGTTATCCAGGATGGTCTCGATCTCCTGAA CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG01433.hp1 others(13): Show HG00733.hp1 HG00735.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01975.hp1 HG02027.hp1 HG02040.hp2 HG02683.hp1 HG03654.hp1 HG04199.hp2 NA18988.hp1 NA19011.hp1 NA19067.hp2 NA19076.hp2 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0019 a0003c0004t0002g0223 a0003c0004t0002g0290 others(12): Show a0003c0004t0002g0019 a0003c0004t0002g0223 a0003c0004t0002g0290 a0003c0004t0002g0291 a0003c0004t0002g0332 a0003c0004t0002g0333 a0003c0004t0002g0334 a0003c0004t0002g0335 a0003c0004t0002g0340 a0003c0004t0002g0341 a0003c0004t0002g0342 a0003c0004t0002g0344 a0003c0004t0002g0345 a0003c0004t0002g0346 a0003c0004t0002g0347	16	390	0.0410	316	c.203 others(335): Show c.2039-4515_2039-4514insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGTTCAGGAGA TCGAGACCATCCTGGATAACACAGTGAAACTCCGTCTCTACTAAAAATAC AAAAAAATAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCC ATCTCAAAAAAAAAAAAAAAAAAAAAAAATATCATCTAGG	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	11/13			chr20	TogoVar

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