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
SPOCK3_chr4_166728384_167239494	167109048	A A	AAAAATAT others(372): Show AAAAATATATATAAATATATATTTATATAAAAATATATATAAATATATAT TTATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAAT ATATATTTATATAAAAATATATATAAATATATATTTATATATAAATATAT ATAAATATATATTTATATATAAATATATATAAATATATATTTATATAAAA ATATATATAAATATTATATATTTATATAAAAATATATATAAATATTATAT ATTTATATAAAAATATATATAAATATTATATATTTATATAAAAATATATA TAAATATTATATATTTATATAAAATATATATAAATATTATATATTTATAT AAAATATATATAAATATTATATATTTATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	134	0.0075	379	c.190 others(398): Show c.190-46512_190-46511insATATAAATATATAATATTTATATATA TTTTATATAAATATATAATATTTATATATATTTTATATAAATATATAATA TTTATATATATTTTTATATAAATATATAATATTTATATATATTTTTATAT AAATATATAATATTTATATATATTTTTATATAAATATATAATATTTATAT ATATTTTTATATAAATATATATTTATATATATTTATATATAAATATATAT TTATATATATTTATATATAAATATATATTTATATATATTTTTATATAAAT ATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTAT ATAAATATATATTTATATATATTTTTATATAAATATATATTTATATATAT TTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SRXN1_chr20_641615_658200	642207	T T	TGCCCAGC others(372): Show TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCG GGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGG GGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATG GGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGC CCAGCGGGGGTGGAGTTGCCTGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp2 HG02027.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0001 a0001c0005t0002g0049 a0001c0001t0002g0001 a0001c0005t0002g0049	2	367	0.0054	379	c.65 others(390): Show c.6506_*6507insCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCATC CCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCA CAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCT GGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4407		chr20	TogoVar
ST18_chr8_52105838_52414756	52276161	A A	ACATACCA others(372): Show ACATACCACATACACACCACACAGGCAAACTACACACCACACACACCAAA CACACACCACATACACACACCCTATACATACCACACACACACACAAACCA CATGCACACCACACACCACACATAGCCCATACACACCACACAGGGAAACT ACACACCACATACACCAAACATACCACATACACACACCCCATACATACCA CACTCACACACCACATGCACACATACCACACTCACACCATATACCATACA TCACACATATACGCCACACACACCACGCACACACACACCACACACACACA TCACACATGCAAGCCACACACCACACACATCAAACACACACAACATACCA CATGCACACACACCACACATACCACACAGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG01261.hp1 others(36): Show HG00558.hp2 HG00609.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03516.hp1 HG03834.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18942.hp1 NA19043.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0006	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0004c0005 a0005c0007 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0002t0002 a0001c0002t0006 a0002c0003t0003 a0004c0005t0001 a0005c0007t0007 a0006c0008t0002	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0080 a0001c0001t0003g0023 a0001c0001t0003g0072 a0001c0001t0005g0032 a0001c0001t0005g0062 a0001c0001t0006g0052 a0001c0001t0006g0053 a0001c0001t0007g0008 a0001c0001t0007g0084 a0001c0001t0010g0041 a0001c0001t0010g0067 a0001c0001t0011g0040 a0001c0001t0014g0079 a0001c0001t0015g0068 a0001c0001t0016g0083 a0001c0001t0017g0100 a0001c0001t0018g0037 a0001c0001t0019g0057 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0006g0060 a0002c0003t0003g0022 a0002c0003t0003g0038 a0002c0003t0003g0102 a0004c0005t0001g0092 a0005c0007t0007g0098 a0006c0008t0002g0065	39	97	0.4021	379	c.-46 others(400): Show c.-464-46085_-464-46084insCCTGTGTGGTATGTGTGGTGTGTG TGCATGTGGTATGTTGTGTGTGTTTGATGTGTGTGGTGTGTGGCTTGCAT GTGTGATGTGTGTGTGTGGTGTGTGTGTGCGTGGTGTGTGTGGCGTATAT GTGTGATGTATGGTATATGGTGTGAGTGTGGTATGTGTGCATGTGGTGTG TGAGTGTGGTATGTATGGGGTGTGTGTATGTGGTATGTTTGGTGTATGTG GTGTGTAGTTTCCCTGTGTGGTGTGTATGGGCTATGTGTGGTGTGTGGTG TGCATGTGGTTTGTGTGTGTGTGTGGTATGTATAGGGTGTGTGTATGTGG TGTGTGTTTGGTGTGTGTGGTGTGTAGTTTGCCTGTGTGGTGTGTATGTG GTATG	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST18_chr8_52105838_52414756	52276161	A A	ACATACCA others(372): Show ACATACCACATACACACCACACAGGCAAACTACACACCACACACACCAAA CACACACCACATACACACACCCTATACATACCACACACACACACAAACCA CATGCACACCACACACCACACATAGCCCATACACACCACACAGGGAAACT ACACACCACATACACCAAACATACCACATACACACACCCCATACATACCA CACTCACACACCACATGCACACATACCACACTCACACCATATACTATACA TCACACATATACGCCACACACACCATGCACACACACACCACACACACACA TCACACATGCAAGCCACACACCACACACATCAAACACACACAACATACCA CATGCACACACACCACACATACCACACAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA20300.hp2 HG03453.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0003 a0001c0001t0001g0004	2	60	0.0333	379	c.-46 others(400): Show c.-464-46085_-464-46084insCCTGTGTGGTATGTGTGGTGTGTG TGCATGTGGTATGTTGTGTGTGTTTGATGTGTGTGGTGTGTGGCTTGCAT GTGTGATGTGTGTGTGTGGTGTGTGTGTGCATGGTGTGTGTGGCGTATAT GTGTGATGTATAGTATATGGTGTGAGTGTGGTATGTGTGCATGTGGTGTG TGAGTGTGGTATGTATGGGGTGTGTGTATGTGGTATGTTTGGTGTATGTG GTGTGTAGTTTCCCTGTGTGGTGTGTATGGGCTATGTGTGGTGTGTGGTG TGCATGTGGTTTGTGTGTGTGTGTGGTATGTATAGGGTGTGTGTATGTGG TGTGTGTTTGGTGTGTGTGGTGTGTAGTTTGCCTGTGTGGTGTGTATGTG GTATG	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(372): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGT GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACAGTGTATATATATACGTGTGTGTATATATACACGTGTATA TATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATA TATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	87	0.0115	379	c.271 others(396): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACTGTATATAT ACACACACGTATATATATACACGTGTATATATACACACACGTATATATAT ACACGTGTATATATACACACACGTATATATATACACGTGTATATATACAC ACACGTATATATATACACGTGTATATATACACACACGTATATATATACAC GTGTATATATACACACACGTATATATATACACGTGTATATATACACGTAT ATATATACACGTATATATACACACACACGTATATATATACACGTATATAT A	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(372): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTC CCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCC CTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCC TCCTCTCCCCTCCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0209 a0001c0001t0002g0209	1	165	0.0061	379	c.186 others(396): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCT CCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCC CCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTC C	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
THEG_chr19_356747_381026	377125	T T	TCCCCCTC others(372): Show TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCTCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCACCCAGCCTCTCCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCCTCTGTGCCCCCACCCAGCCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	364	0.0027	379	c.-11 others(390): Show c.-1156_-1155insGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGG CTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCT GGGTGAGGCACGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1100		chr19	TogoVar
THNSL2_chr2_88165346_88191627	88181071	C C	CTAGCATA others(372): Show CTAGCATACCTGCTCGAATCTAGATCGCATCTCTCTCCTCTCTCCTCCTC TTCTCCTCTCTCTCTCTCGCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCC TCCTCTCTCCTCACTCTCCTCTCTCCTCTCTCTCACGTCTCTCTCTCCTC TCTCCTCTCCTCTCTCTCCTCTCTCTCTCCTCGTCTCCTCTCCTCTCTCC TCCCTCTCTCTCCTCCTCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCCTCTCTCCTCCTCTC TCTTCTCTCTCTCCTCTCTCTCTCTCTCTCTCCATCTCTCTCTCCTCTCT CTCTTCTCTCTCTCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0036 a0001c0001t0005g0036	1	51	0.0196	379	c.803 others(396): Show c.803-1628_803-1627insTAGCATACCTGCTCGAATCTAGATCGCA TCTCTCTCCTCTCTCCTCCTCTTCTCCTCTCTCTCTCTCGCTCTCTCTCT CTCTCTCTCCTCTCTCTCTCCTCCTCTCTCCTCACTCTCCTCTCTCCTCT CTCTCACGTCTCTCTCTCCTCTCTCCTCTCCTCTCTCTCCTCTCTCTCTC CTCGTCTCCTCTCCTCTCTCCTCCCTCTCTCTCCTCCTCTCTCTCCTCCT CTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCT CTCCTCCTCTCTCCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCTCTCT CTCCATCTCTCTCTCCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTCTCTC T	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8			chr2	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(372): Show ATATTATATATACATTATATATATTATATATATATACATTATATATATTA TATATATATACATTATATATACATTATATATATTATATATTATATATACA TTATATATATTATATATTATATATACATTATATATATTATATATTATATA TACATTATATATATTATATATTATATATACATTATATATATTATATATTA TATATACATTATATATATTATATATTATATATACATTATATATATTATAT ATTATATATACATTATATATATTATATATTATATATACATTATATATATT ATATATTATATATACATTATATATATTATATATTATATATACATTATATA TATTATATATTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	149	0.0067	379	c.102 others(398): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATGTATATA TATATAATATATATAATGTATATATATATAATATATATAATGTATATATA ATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930542	G G	GGGGGTTA others(372): Show GGGGGTTAGGAAGGCTGGGGTTAGGAAGGCCGGGGTTAGGGAGGCCAGGG GTCAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAG GCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTAGGGAGGCC AGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAGGGA GGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCGGGGTTAGGAAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0041 a0002c0002t0007g0041	1	285	0.0035	379	c.50 others(390): Show c.5048_*5049insGGCCTTCCTAACCCCGGCCTCCCTAACCCCAGCC TCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCTGGCC TCCCTAACCCCTGGCCTCCCTGACCCCTGGCCTCCCTAACCCCGGCCTCC CTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTGACCCCT GGCCTCCCTAACCCCGGCCTTCCTAACCCCAGCCTTCCTAACCCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4827		chr11	TogoVar
TPO_chr2_1408463_1548673	1480799	C C	CCTCCTTC others(372): Show CCTCCTTCATCCGTCCAAACCATGTTTCTCCTGCTGCATCCGTCCACACC ACCTCCTCCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTTCATC CGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACCACCTCCCTCCT CCTGCTGCATCCGTCCACACCACCTCCTCCTCCTTCATCCGTCCACACCA CCTTCCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTTCATCCGT CCAAACCATGTTTCTCCTGCTGCATCGTCCACACCACCTCCCTCCTCCTG CATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCACACCACGTCCCT GCTGCTGCGTCTGTCCTCACCACGTCCCTG	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0082 a0003c0003t0005g0082	1	126	0.0079	379	c.133 others(398): Show c.1338+3197_1338+3198insCCTTCATCCGTCCAAACCATGTTTCT CCTGCTGCATCCGTCCACACCACCTCCTCCTCCTGCTGCATCCGTCCACA CCACCTCCCTCCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATC CGTCCACACCACCTCCCTCCTCCTGCTGCATCCGTCCACACCACCTCCTC CTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACCA CCTCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTCCTGCTGCATCGTC CACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCTCCTGCTG CATCCGTCACACCACGTCCCTGCTGCTGCGTCTGTCCTCACCACGTCCCT GCT	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(372): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATAAAAATTATATATATTATATATATATAAAAATTATATATATTA TATATAAAAATTATATATATATTATATATATATAAAATTATATATATATT ATATATATATAAAAATTATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	144	0.0069	379	c.28 others(390): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATATAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATAAAAATTATATATATTATATATATATAA AAATTATATATATTATATATAAAAATTATATATATATTATATATATATAA AATTATATATATATTATATATATATAAAAATTATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(372): Show GGAGGAGGAGGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAG GAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGA AGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGA TGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATG GAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGA GGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGA TAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGTAATGGAGGAG GAGGACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18999.hp1 HG00673.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0202 a0001c0001t0002g0173 a0001c0001t0001g0202 a0001c0001t0002g0173	2	227	0.0088	379	c.153 others(396): Show c.1534+563_1534+564insGGGGTAGTGGAGGAGGAGGACATAGTGG AGGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAG GAGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCAT GGAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGG CTGAGATAATGGAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCG GAGAAGGAGGAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGT GGTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGG TAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAG G	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TRIM67_chr1_231157058_231226565	231202070	G G	GGAGGAGG others(372): Show GGAGGAGGAGGGGGTAGTGGAGGAGGAGGACATAGTGGAGGAGGAGGAGG AGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGGAGGAGGAGGAA GTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATGGAGGAGGAGAT GGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGCTGAGATAATGG AGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGGAGAAGGAGGAG GTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTGGTGGCTGAGAT AGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGGTAATGGAGGAG GAGGACATAGTGGAGGAGGAGGAGGTGGAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	226	0.0044	379	c.153 others(396): Show c.1534+563_1534+564insGGGTAGTGGAGGAGGAGGACATAGTGGA GGAGGAGGAGGAGGTGGAAGAGGAGGAGGTGGTGGCTGAGATAATGGAGG AGGAGGAGGAAGTGGTGGCAGAGGAGGAGGAGGTAGAGGAGGTAGTCATG GAGGAGGAGATGGAGGAGGAGGAGGAGGTGGAAAAGGAGGAGGTGGTGGC TGAGATAATGGAGAAGGAGGAGGAGATGGAGGAGGAGGAAGAGGTAGCGG AGAAGGAGGAGGTAGTGGAGGAGGAGGAGGAGGTGGAAGAGGAGGAAGTG GTGGCTGAGATAGTGGAGGAGAAGGAGGTAGTAGAGCAGGAGAAGGGGGG TAATGGAGGAGGAGGACATAGTGGAGGAGGAGGAGGTGGAAGAGGAGGAG G	TRIM67	ENSG00000119283.16	transcript	ENST00000366653.6	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TWIST2_chr2_238843085_238915534	238870383	C C	CACACACC others(372): Show CACACACCCCACACACACCACACCCCCCCCACACACCACACACCCCACAC ACACCACACACCCCACACACACCACACCCCACACACACCACACACACCAC ACACACCACACACCCCCCACACACCACACCCCACACACACCACACACCCA CACACACATCACATACCCCACACACCACACACCCCACACACACCACACAC CCCCCACACACCACACCCCCACACACACCACACCCCACACACACCACACA CCCCACACACACCACACACCCCACACACACCACACAACCACACACCCCTA CACACCCCACACACACCACACACACACATCACATACCACACACACATCAC ATACCACACACAACCACACACCACACCACA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	131	0.0076	379	c.35 others(398): Show c.35+21650_*35+21651insACACACCCCACACACACCACACCCCC CCCACACACCACACACCCCACACACACCACACACCCCACACACACCACAC CCCACACACACCACACACACCACACACACCACACACCCCCCACACACCAC ACCCCACACACACCACACACCCACACACACATCACATACCCCACACACCA CACACCCCACACACACCACACACCCCCCACACACCACACCCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACACCCCACACA CACCACACAACCACACACCCCTACACACCCCACACACACCACACACACAC ATCACATACCACACACACATCACATACCACACACAACCACACACCACACC ACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870495	C C	CCCCCACA others(372): Show CCCCCACACACACCACACCCCATACACACCACACCCCACACACACCACAC CCCATACACACCACACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCCCACACACCACACACCCCACACACACCAC ACCCCATACACACCACACCCCACACACACCACACACCCCACACACACCAC ACCCCATACACACCACACACCCCACACACCACACACACACATCACATACC ACACACACATCACATACCACACACACACCACACACACACCACACACCCCA CACCCCACACACACATCACACACCACACACACCACACACACCCCACACAC ACCACACACCCCACACACACACATCACATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	266	0.0038	379	c.35 others(398): Show c.35+21764_*35+21765insCCACACACACCACACCCCATACACAC CACACCCCACACACACCACACCCCATACACACCACACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCCCACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACACCCCACACAC CACACACACACATCACATACCACACACACATCACATACCACACACACACC ACACACACACCACACACCCCACACCCCACACACACATCACACACCACACA CACCACACACACCCCACACACACCACACACCCCACACACACACATCACAT ACC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UROC1_chr3_126476166_126522773	126515450	G G	GCCCACCA others(372): Show GCCCACCACCTACCCTCTCGCTGTCTCCCAGCACCTACCACCTACCCCTT CCACTCCCCAGTACCCACCACCTACCCTCCTCCCATCTGCCCAGCACCCA CCACCTACCCCTTCCACTCCCCAGCACCCACCACCTACCCTCCTCCCATC TGCCCAGCACCCACCACCTACCATCCCCCAACCCCCAGCACCCACCACCT ACCCTCCCCCTAACCCCCAGCACCCACCACTTACCCTCCCCCAACCCCCA GCACCCACCACCTACCCTCCCCCTCATCTGCCCAGCACCCACCACCTACC CTCTCCCCAACCCCCAGTGCCCACCACCTACCCTCCCCCCACCCCCAGCA CCCAACACTTACCCTCCCCCACCCCCAACA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0135 a0001c0001t0002g0135	1	378	0.0026	379	c.126 others(396): Show c.126+2143_126+2144insTGTTGGGGGTGGGGGAGGGTAAGTGTTG GGTGCTGGGGGTGGGGGGAGGGTAGGTGGTGGGCACTGGGGGTTGGGGAG AGGGTAGGTGGTGGGTGCTGGGCAGATGAGGGGGAGGGTAGGTGGTGGGT GCTGGGGGTTGGGGGAGGGTAAGTGGTGGGTGCTGGGGGTTAGGGGGAGG GTAGGTGGTGGGTGCTGGGGGTTGGGGGATGGTAGGTGGTGGGTGCTGGG CAGATGGGAGGAGGGTAGGTGGTGGGTGCTGGGGAGTGGAAGGGGTAGGT GGTGGGTGCTGGGCAGATGGGAGGAGGGTAGGTGGTGGGTACTGGGGAGT GGAAGGGGTAGGTGGTAGGTGCTGGGAGACAGCGAGAGGGTAGGTGGTGG G	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
VCX2_chrX_8164944_8176267	8169214	T T	TCCCCACA others(372): Show TCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCACACACACCTCTTCCA CCCTCCCCCCTCCCACACACCTCCTCTTCCTCCCCCCTCCCTCCCCACAC AACCACCTCTTCCTCCCTCCCTCCCCTCCCCTCACACCACCCTTCCTCCC TCCCCCCTCCCACACACCACCTCTCCCCCCCCTCCCCACACACCACCCTC CCCCCCTCCCCACCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTCCTCCCCCCCCCCCCCACACACCACCCTCCTCCCCCCTCCCC CCCACACACCACCTCTCCTCCCTCCCCTCCCCACACACCCTTCCTCCCTC CCCCCCCCCACACACCTCCTCCTCCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0007 a0005c0005t0002g0007	1	114	0.0088	379	c.81 others(388): Show c.817_*818insGGGAGGGAGGAGGAGGTGTGTGGGGGGGGGGAGGGA GGAAGGGTGTGTGGGGAGGGGAGGGAGGAGAGGTGGTGTGTGGGGGGGAG GGGGGAGGAGGGTGGTGTGTGGGGGGGGGGGGGAGGAGAGGTGGTGTGTG GGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGTGGGGAGGGGGGGAGGGT GGTGTGTGGGGAGGGGGGGGAGAGGTGGTGTGTGGGAGGGGGGAGGGAGG AAGGGTGGTGTGAGGGGAGGGGAGGGAGGGAGGAAGAGGTGGTTGTGTGG GGAGGGAGGGGGGAGGAAGAGGAGGTGTGTGGGAGGGGGGAGGGTGGAAG AGGTGTGTGTGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		729		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675133	T T	TCCCTCCC others(372): Show TCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCT TCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCT CCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCT CCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTC CTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCC CTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCC CTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCC TCCTTCCCTCCTCCCTCCCTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0234 a0001c0002t0002g0234	1	312	0.0032	379	c.483 others(394): Show c.483+386_483+387insCCCTCCCTCCTTCCCTCCTCCCTCCCTCCT TCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCT CCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCT CCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTC CTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCC CTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCC CTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCC TCCTTCCCTCCTCCCTCCCTCCTTCCCTCCTCCCTCCCTCCTTCCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27			chr1	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(372): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTTCCCTTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTC CCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	100	0.0100	379	c.-10 others(396): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCC C	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF85_chr19_20918251_20955697	20919183	A A	ATATATAT others(372): Show ATATATATACAAGTATATATATATACTTGTATACATATATACTATATATA TACATATATACACATATATACGTATATATGTATATATACATATATACATG TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACGTATATATACGTATATATACACA TATATACATGTATATATATACGTATATATACACATATATACATGTATATA TACATGTATATATACGTACGTATATACACATATATATACATGTATATATA TATACGTATATACACATATATATACATGTATATATATATATGTGTATATA TACATGTATATATACATATATATACATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	212	0.0047	379	c.-42 others(390): Show c.-4218_-4217insTATATATACAAGTATATATATATACTTGTATACA TATATACTATATATATACATATATACACATATATACGTATATATGTATAT ATACATATATACATGTATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACGTATATAT ACGTATATATACACATATATACATGTATATATATACGTATATATACACAT ATATACATGTATATATACATGTATATATACGTACGTATATACACATATAT ATACATGTATATATATATACGTATATACACATATATATACATGTATATAT ATATATGTGTATATATACATGTATATATACATATATATACATGTG	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4067		chr19	TogoVar
ADAD1_chr4_122374011_122434784	122399075	T T	TATCTTCT others(373): Show TATCTTCTAGAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT GGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	374	0.0027	380	c.724 others(397): Show c.724+2714_724+2715insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCG CAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAG GATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCATCTTCTAGAATTT TT	ADAD1	ENSG00000164113.11	transcript	ENST00000296513.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72550032	A A	AAGAAGAA others(373): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAGAAGAAGAAGGAAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	130	0.0077	380	c.98- others(395): Show c.98-1149_98-1148insCTTCTTCTTCTTTCCTTCTTCTTCTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	2/21			chr4	TogoVar
AHRR_chr5_316714_443285	394247	C C	CCTCCCCT others(373): Show CCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCC TCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCT GGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTG TCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTT CCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTG CTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCT TGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCT TTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02451.hp2 others(4): Show HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02895.hp1 HG03195.hp2 HG03453.hp1 NA18906.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0004c0003 a0006c0006 a0007c0007	a0001c0001t0001 a0001c0001t0012 a0001c0009t0036 others(4): Show a0001c0001t0001 a0001c0001t0012 a0001c0009t0036 a0002c0002t0001 a0004c0003t0024 a0006c0006t0030 a0007c0007t0007	a0001c0001t0001g0256 a0001c0001t0012g0149 a0001c0009t0036g0033 others(4): Show a0001c0001t0001g0256 a0001c0001t0012g0149 a0001c0009t0036g0033 a0002c0002t0001g0255 a0004c0003t0024g0029 a0006c0006t0030g0231 a0007c0007t0007g0238	7	209	0.0335	380	c.351 others(399): Show c.351+17557_351+17558insGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGA GCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCT CTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCT CCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTG GAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGT CTCTCCCCTTTCCTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTC CTCCCTGTGTGCTGGAGCCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGC TGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AKT3_chr1_243494724_243855243	243525831	G G	GGGGGAGG others(373): Show GGGGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAG GGGGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAA GGGGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGA GGAGAAGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGGGGGGAGGAGGA GGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGAGGGGGAGGAGG AGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGAG GAGGGGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGAGGAGGAGGAGGGG GAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01884.hp2 HG02647.hp1 others(3): Show HG01261.hp1 HG01884.hp2 HG02647.hp1 HG02717.hp2 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0026 a0001c0001t0005 a0001c0001t0026	a0001c0001t0005g0285 a0001c0001t0005g0290 a0001c0001t0005g0292 others(3): Show a0001c0001t0005g0285 a0001c0001t0005g0290 a0001c0001t0005g0292 a0001c0001t0005g0294 a0001c0001t0005g0295 a0001c0001t0026g0136	6	188	0.0319	380	c.125 others(401): Show c.1252-13406_1252-13405insTCCCCCTCCTCCTCCTCCCCTCCT CCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCTCCTCCTCCT CCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCC TCCCCCTCCTCCTCCCCCTCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTC CTCCCCCTCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCCCCCCTCCTCCC CTTCTCCTCCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTC CTTCCCCTTCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCA CCTCCCCCTCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTC CTCCCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANO7_chr2_241183677_241230976	241218055	C C	CGCGTAGG others(373): Show CGCGTAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGGGCAGCGGGGGGCGCGCAGGGGCGGGGCGGGGGGGGCAGCGGGGGCG CGCAGGGGCGGGGCGGGGGGGCAGCGGGGGGCGCGCAGGGGCGGGGCGGG GGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGCGCGCA GGGGCGGGCCGGGGGCAGCGGGGGGCGCGCAGGGGCGGGGCGGGGGGCAG CGGGGGCGCGTAGGGACGGGGCGGGGGGGGGCAGCGGGGGCGCGCAGGGG CGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGAGCGGGGGCGCGCAGG GGCGGGGCGGGGGGCAGCGGGGGGCGCGCAG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0028 a0028	a0028c0073 a0028c0073	a0028c0073t0001 a0028c0073t0001	a0028c0073t0001g0193 a0028c0073t0001g0193	1	253	0.0040	380	c.217 others(397): Show c.2178+165_2178+166insCGTAGGGGCGGGGCGGGGGGGCAGCGGG GGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGGGCGCGCAGGGGCGGGG CGGGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGGCAGCGGGGG GCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGGGCGGGGCGG GGGGGCAGCGGGGGCGCGCAGGGGCGGGCCGGGGGCAGCGGGGGGCGCGC AGGGGCGGGGCGGGGGGCAGCGGGGGCGCGTAGGGACGGGGCGGGGGGGG GCAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGCGCGCAGGG GCGGAGCGGGGGCGCGCAGGGGCGGGGCGGGGGGCAGCGGGGGGCGCGCA GG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406230	T T	TCTTCCTC others(373): Show TCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCT CGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTG ACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGA CCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAATGTGTGTTTGTCACTG AGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTG TCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTG TGTCACTGAGTGGACCTCTGTGACATCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0022 a0002c0001t0001g0022	1	197	0.0051	380	c.29 others(391): Show c.2903_*2904insCTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGG ACCTCTGTGACATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACT GAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAAT GTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCC TTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCT CAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		553		chr2	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(373): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACG GGCCTGGTGGGAGGGGAGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGA GGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGA TGGGGGTGTCCACGGGCCTGGTGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	127	0.0079	380	c.-91 others(389): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACTCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCC CACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGT GGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCAT CTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ASMTL_chrX_1398139_1457909	1453754	A A	AGTGGAGA others(373): Show AGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGG GGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGG CCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGG GGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATG GGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACG GGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGA GGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGA TGGGGGTGTCCACGGGCCTGGTGGGAGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03239.hp2 HG03195.hp1 HG03239.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0013 a0001c0001 a0002c0013	a0001c0001t0001 a0002c0013t0001 a0001c0001t0001 a0002c0013t0001	a0001c0001t0001g0054 a0002c0013t0001g0180 a0001c0001t0001g0054 a0002c0013t0001g0180	2	128	0.0156	380	c.-91 others(389): Show c.-915_-914insGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCC ACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCA CCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGG ACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCT CCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCC CACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGT GGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCAT CTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		846		chrX	TogoVar
ASTN2_chr9_116418112_117420057	116840510	C C	CCCCCCCC others(373): Show CCCCCCCCACCTCCCTCCCGGACAGGGGGGCTGGCCGGGCAGAGTGGCTC CTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCCGGA CGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTGCCTCCCGGAC GGAGCGGCTGACCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGACCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCTGA	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19030.hp1 HG03130.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0001 a0001c0008t0005 a0001c0002t0001 a0001c0008t0005	a0001c0002t0001g0036 a0001c0008t0005g0081 a0001c0002t0001g0036 a0001c0008t0005g0081	2	100	0.0200	380	c.204 others(401): Show c.2041-19728_2041-19727insTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGG GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGTCAG CCGCTCCGTCCGGGAGGCAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGTCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCACTCTGCCCGGCCAGCCCCCCTGTCCGGGAGGGAGGTG GGGGGG	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	11/22			chr9	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(373): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATGAATATATATATCATATATGATATATATGAT ATATATATCATATATTATATATGATATATATATCATATATGATATATATG AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0017 a0002c0001t0017	a0002c0001t0017g0191 a0002c0001t0017g0191	1	268	0.0037	380	c.924 others(397): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATAATATATGATATA TATATCATATATATCATATATGATATATATATTCATATATATATCATATA TGATATATATATTCATATATATCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT AT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(373): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATGATAT ATATATCATATATGATATATATGATATATATATCATATATGATATATATG AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATATTCATATATATCATAT ATGATATATATGAATATATATATCATATATG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0041 a0002c0001t0041	a0002c0001t0041g0186 a0002c0001t0041g0186	1	268	0.0037	380	c.924 others(397): Show c.924+1373_924+1374insCATATATGATATATATATTCATATATAT CATATATGATATATATGAATATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT ATTCATATATATCATATATGATATATATATCATATATATCATATATGATA TATATATCATATATATCATATATGATATATATGAATATATATATCATATA TGATATATATATTCATATATATCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT AT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATG2B_chr14_96274195_96368341	96340148	A A	AATATATA others(373): Show AATATATATATCATATATGATATATATGAATATATATATCATATATGATA TATATGAATATATATATCATATATGATATATATGAATATATATATCATAT ATGATATATATGAATATATATATCATATATGATATATATGAATATATATA TCATATATGATATATATATTCATATATATCATATATGATATATATGATAT ATATATCATATATTATATATGATATATATATCATATATGATATATATGAA TATATATATCATATATGATATATATGAATATATATATCATATATGATATA TATGAATATATATATCATATATGATATATATATTCATATATATCATATAT GATATATATGAATATATATATCATATATGAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0187 a0002c0001t0004g0187	1	268	0.0037	380	c.924 others(397): Show c.924+1373_924+1374insATCATATATGATATATATATTCATATAT ATCATATATGATATATATGAATATATATATCATATATGATATATATATTC ATATATATCATATATGATATATATATTCATATATATCATATATGATATAT ATATTCATATATATCATATATGATATATATATCATATATAATATATGATA TATATATCATATATATCATATATGATATATATGAATATATATATCATATA TGATATATATATTCATATATATCATATATGATATATATATTCATATATAT CATATATGATATATATATTCATATATATCATATATGATATATATATTCAT ATATATCATATATGATATATATATTCATATATATCATATATGATATATAT AT	ATG2B	ENSG00000066739.12	transcript	ENST00000359933.6	protein_coding	6/41			chr14	TogoVar
ATP6V0A4_chr7_138701294_138803196	138718291	T T	TGTGTGTG others(373): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCAGTTATGGATGTCTGCGGAGG GAGACGTCCAGGAAGGAAGGGGGGAATGCAGTCACGGATGTCTGTGGAGG GAGACGTCCAGGAAGGAAGGGGGGGCGTGCAGTCACGGATGTCTGCGGAG GGAGACGTCCAGGAAGGAATGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT GCGCGCAGTTATGGATGTCTGCGGAGGGAGACGTCCAGGAAGGAATGGCG GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCAGTTATGGAT GTCTGCGGAGGGAGACGTCCAGGAAGGAAGGGGGGATGCAGTCACGGATG TCTGTGGAGGGAGACGTCCAGGAAGGAATGG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0168 a0002c0003t0001g0167 a0002c0003t0001g0168	2	374	0.0053	380	c.214 others(399): Show c.2140-2411_2140-2410insCCATTCCTTCCTGGACGTCTCCCTCC ACAGACATCCGTGACTGCATCCCCCCTTCCTTCCTGGACGTCTCCCTCCG CAGACATCCATAACTGCACACACACACACACACACACACACACACACACA CACACCGCCATTCCTTCCTGGACGTCTCCCTCCGCAGACATCCATAACTG CGCGCACACACACACACACACACACACACACACCCATTCCTTCCTGGACG TCTCCCTCCGCAGACATCCGTGACTGCACGCCCCCCCTTCCTTCCTGGAC GTCTCCCTCCACAGACATCCGTGACTGCATTCCCCCCTTCCTTCCTGGAC GTCTCCCTCCGCAGACATCCATAACTGCACACACACACACACACACACAC ACAC	ATP6V0A4	ENSG00000105929.16	transcript	ENST00000310018.7	protein_coding	19/21			chr7	TogoVar
B3GNTL1_chr17_82937149_83056770	82970645	C C	CAGCGTGG others(373): Show CAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCA GCGTGGACTGACCTCCGCACCCAGCGTGGCCGCGACCTCCGCACCCAGCG TGGCCGCGACCTCCCCACCCAGCGTGGCCGTGACCTCCCCACCCAGCGTG GCCGCGACCTCCGCACCCAGCGTGGACTGACCTCCGCACCCAGTGTGGCC GTGACCTCCCCACCCAGCGTGGCCGCGACCTCCGCACCCAGCGTGGACTG ACCTCCGCACCCAGCGTGGCCGCGACCTCCCCACCCAGCGTGGCCGCGAC CTCCGCACCCAGCGTGGACTGACCTCCGCACCCAGTGTGGCCGTGACCTC CGCACCCAGTGTGGCTGTGACCTCTGCACAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0189 a0001c0003t0004g0189	1	206	0.0049	380	c.460 others(397): Show c.460-4900_460-4899insATGTGCAGAGGTCACAGCCACACTGGGT GCGGAGGTCACGGCCACACTGGGTGCGGAGGTCAGTCCACGCTGGGTGCG GAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACGCTGGGTGCGGA GGTCAGTCCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGGT CACGGCCACACTGGGTGCGGAGGTCAGTCCACGCTGGGTGCGGAGGTCGC GGCCACGCTGGGTGGGGAGGTCACGGCCACGCTGGGTGGGGAGGTCGCGG CCACGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGCGGAGGTCAGTCCA CGCTGGGTGCGGAGGTCGCGGCCACGCTGGGTGGGGAGGTCGCGGCCACG CT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83004057	C C	CCGCCCTC others(373): Show CCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCTCGCCCT CCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTC TCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAG TCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGAT TCCTGAGCTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAG CTCGCCCTCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCC TCCCACTCTCTGCAGTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACT CTCTGCAGTCCGCGTGTGGGATTCCTGAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0149 a0001c0001t0012g0149	1	176	0.0057	380	c.459 others(397): Show c.459+1057_459+1058insAGCTCAGGAATCCCACACGCGGACTGCA GAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCAGAGAGTG GGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGGGAGGGC GAGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGGGAGGGCGAGCTCA GGAATCCCACACGCGGAGGGCGGGAGGGCGGGCTCAGGAATCCCACACGC GGACTGCAGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGC AGAGAGTGGGAGGGCGGGCTCAGGAATCCCACACGCGGACTGCAGAGAGT GGGAGGGCGAGCTCAGGAATCCCACACGCGGACTGCAGAGAGTGGGAGGG CG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	384901	A A	ACACAGCC others(373): Show ACACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	109	0.0092	380	c.31 others(391): Show c.3109_*3110insCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAA CCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCG GGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCAC TCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGG AACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGC CGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(373): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02145.hp1 others(9): Show HG01109.hp1 HG01261.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02896.hp1 HG03139.hp1 HG03225.hp1 HG03486.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155	12	15	0.8000	380	c.565 others(399): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCT CTCCTCCCCTCCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCT CTTCCCTCCCCTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCT TCCCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCC CTCCCTGTCCCCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCC TCCCCTACCCTTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTC CCCTCCCCTCCCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCC TTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BOK_chr2_241553745_241579131	241570995	G G	GGGGGGTG others(373): Show GGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTG GCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGC GAGGGTACAGACGTACGGGAGGGAGTGGCGGGTGGGTGAGTGTCTGAGCG CCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGA GTGGTGGATGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGT GCGAGGGTGCAGACGTACGGGAGGGAATGGCGGGTGGGTGAGCCTCTGAG CGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGCCTCTGAGCGCCT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp2 HG02109.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0186 a0001c0001t0021g0187 a0001c0001t0021g0186 a0001c0001t0021g0187	2	272	0.0074	380	c.513 others(395): Show c.513+707_513+708insGGGGGTGGGAGAGCTGGGGTGCGAGGGTAC AGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGG GGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGG GTGGGTGAGTGTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAGGG TGCAGAGGTACGGGAGGGAGTGGTGGATGGGTGAGCCTCTGAGCGCCTGG GGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGGAATGGC GGGTGGGTGAGCCTCTGAGCGCCTGGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
C20orf96_chr20_265863_295750	278986	C C	CGGAGGGA others(373): Show CGGAGGGAGGGAGGGAGGGCGGGACGGAGGGCGGGAGGGCGGGACGGAGG GAGGGCGGGACGGAGGGACGGAGGGAGGGCGGGACGGAGGGACGGAGGGA GGGAGGGCGGGACGGAGGGACGGAGGGAGGGAGGGAGGGCGGGACGGAGG GACGGAGGGAGGGAGGGAGGGCGGGAGGGCGGGACGGAGGGACGGAGGGA GGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGGGAGGGAGGGAGGGAGG GCGGGACGGAGGGCGGGAGGGCGGGACGGAGGGAGGGAGGGACGGAGGGC GGGAGGGAGGGAGGGAGGGAGGGCGGGAGGGAGGGAGGGACGGAGGGTGG GAGGGAGGGAGGGAGGGCGGGACGGAGGGCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0082 a0001c0003t0001g0082	1	286	0.0035	380	c.465 others(395): Show c.465+185_465+186insCGCCCTCCGTCCCGCCCTCCCTCCCTCCCT CCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCCCTCCCTCCCTCCCTCC CGCCCTCCGTCCCTCCCTCCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCG CCCTCCCTCCCTCCCTCCCACCCTCCGTCCCTCCCTCCCTCCCGCCCTCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCGCCCTCCCTCCCTCCCTCCGT CCCTCCGTCCCGCCCTCCCTCCCTCCCTCCGTCCCTCCGTCCCGCCCTCC CTCCCTCCGTCCCTCCGTCCCGCCCTCCCTCCGTCCCTCCGTCCCGCCCT CCCTCCGTCCCGCCCTCCCGCCCTCCGTCCCGCCCTCCCTCCCTCCCTCC	C20orf96	ENSG00000196476.12	transcript	ENST00000360321.7	protein_coding	5/10			chr20	TogoVar
CAMKK2_chr12_121232692_121301709	121255315	T T	TATATATA others(373): Show TATATATATATAAAATTATATATAAAATTATATATATAATTATATATATT ATATATATAATTTTATATATATATTATATATATATTATATATATAATTAT ATATATAATTTTATATATATAATTATATATATAATATATATATAATTTTA TATATAAAATTATATATATATAATTATATATATAATTATATATATAATTT TATATATAATTTTATATATATAATTATATATATAATTTTATATATATATA ATTATATATATAATATTATATATATAATTATATATATATAATTATATATA TATTTTTATATATATAATTATATATATAATTATATATATAATTTTATATA TATATAATTATATATATAATTATATATATAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0044 a0001c0017t0005g0044	1	320	0.0031	380	c.907 others(395): Show c.907+234_907+235insTTATATATATAATTATATATATAATTATAT ATATATAAAATTATATATATAATTATATATATAATTATATATATAAAAAT ATATATATAATTATATATATATAATTATATATATAATATTATATATATAA TTATATATATATAAAATTATATATATAATTATATATATAAAATTATATAT AAAATTATATATATAATTATATATATAATTATATATATATAATTTTATAT ATAAAATTATATATATATTATATATATAATTATATATATAAAATTATATA TATAATTATATATATAATATATATATAATATATATATAAAATTATATATA TAATATATATAATTATATATATAATTTTATATATAATTTTATATATATAT	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CASP8_chr2_201255536_201292709	201284695	G G	GGGGAGAG others(373): Show GGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAG ACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGA GAGGGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGG GAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGA CAGGGAGAGGGAGAGGGAGACGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG04204.hp2 HG03927.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0074 a0001c0001t0004g0072 a0001c0001t0004g0074	2	221	0.0090	380	c.803 others(394): Show c.803-100_803-99insAGACGGGGAGAGGGAGAGGGAGAGGGAGACG GGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGA GAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGAGACAGGGAGAG GGAGACGGGGAGAGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGG GGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAG AGGGAGACGGGGAGAGGGAGAGGGAGACGGGGAGAGGGAGAGGGAGACAG GGAGAGGGAGAGGGAGACGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG	CASP8	ENSG00000064012.24	transcript	ENST00000673742.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CASZ1_chr1_10631604_10801646	10744731	C C	CACCACGA others(373): Show CACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCA CCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACC ACGAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCAC GAGCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGA GCAGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGC AGGCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAG GCATGTCCTGGGCACCACGAGCAGGCATGTCCTGGGCACCACGAGCAGGC ATGTCCTGGGCACCACGAGCAGGCATGTCCT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0192 a0001c0003t0012g0192	1	186	0.0054	380	c.-77 others(399): Show c.-77+15969_-77+15970insAGGACATGCCTGCTCGTGGTGCCCAG GACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGA CATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACA TGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATG CCTGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCC TGCTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTG CTCGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCT CGTGGTGCCCAGGACATGCCTGCTCGTGGTGCCCAGGACATGCCTGCTCG TGGT	CASZ1	ENSG00000130940.15	transcript	ENST00000377022.8	protein_coding	2/20			chr1	TogoVar
CCDC6_chr10_59783747_59911556	59882297	A A	AAGGAAAG others(373): Show AAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAA AGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGA AAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCA GGGGGAGAAGGAAAGGAAAGCCGCGGGGAGAAGGAAAGGAAAGCCGGGGA GAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGA AAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGG AAAGCCAGGGGGAGAAGGAAAGGAAAGCCAGGGGGAGAAGGAAAGGAAAG CCGGCGGGAGAAGGAAAGGAAAGCCGGGGAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18992.hp2 NA19064.hp2 others(2): Show NA18981.hp2 NA18992.hp2 NA19064.hp2 NA19068.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0006t0025 a0001c0001t0002 a0001c0006t0002 a0001c0006t0025	a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 others(2): Show a0001c0001t0002g0066 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0006t0002g0274 a0001c0006t0025g0273	5	277	0.0181	380	c.303 others(399): Show c.303+23824_303+23825insCTCCCCGGCTTTCCTTTCCTTCTCCC GCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCCTG GCTTTCCTTTCCTTCTCCCGCCGGCTTTCCTTTCCTTCTCCCGCCGGCTT TCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTT CCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCT CCCCCTGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTCCCCGC GGCTTTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCGCCGGCT TTCCTTTCCTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTT TCCT	CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8			chr10	TogoVar
CCN4_chr8_133186039_133236690	133214070	C C	CACTATAT others(373): Show CACTATATATAGTAGTTATATATACACTATATAGTAGTTATATATACTAC ATATACACTATATATAGTAGTTATATATACTATATATACACTATATATAG TAGTTATATATACTATATATACACTATATATAGTTTATATATACTATATA TACACTATATATAGTAGTTATATATACTACTATATATACTACTATATATA GTATATACTATATATACACTATATATACACTATATATAGCATATATACTA TATATACACTATATATAGTAGTTATATATACTATATATACACTATACATA CACTATATATAGTTTATATATACTATATATAGTAGTTATATATACTATAT ATACTATATATAGTTTATATATACTATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG03239.hp1 HG01928.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0191 a0001c0001t0002g0186 a0001c0001t0001g0191 a0001c0001t0002g0186	2	28	0.0714	380	c.349 others(395): Show c.349+948_349+949insTACACTATATAGTAGTTATATATACTACAT ATACACTATATATAGTAGTTATATATACTATATATACACTATATATAGTA GTTATATATACTATATATACACTATATATAGTTTATATATACTATATATA CACTATATATAGTAGTTATATATACTACTATATATACTACTATATATAGT ATATACTATATATACACTATATATACACTATATATAGCATATATACTATA TATACACTATATATAGTAGTTATATATACTATATATACACTATACATACA CTATATATAGTTTATATATACTATATATAGTAGTTATATATACTATATAT ACTATATATAGTTTATATATACTATATATACTATATATAGTAGTTATATA	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
CECR2_chr22_17364460_17563151	17432004	T T	TGACATTT others(373): Show TGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACT TTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATC ACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCC TGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCC ACTTTGTGCCTGTATGGATTTGCCCACTCTG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0166 a0001c0001t0015g0166	1	165	0.0061	380	c.127 others(399): Show c.127-45531_127-45530insTGCCCACTCTGGACATTTCCTGTAAG TGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGA CATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATT TGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGT GCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACAC AGCCCCACTTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGT AAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCT GGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGG ATTT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CECR2_chr22_17364460_17563151	17432054	A A	ATTTGCCC others(373): Show ATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTT TGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCA TACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCT GTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACT CTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTAT GGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCAC TTTGTGCCTGTATGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAA TCACACAGCCCCACTTTGTGCCTGTATGGAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0111 a0002c0002t0004g0111	1	295	0.0034	380	c.127 others(399): Show c.127-45435_127-45434insTACAGCCCCACTTTGTGCCTGTATGG ATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTT TGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCA CACAGCCCCACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCT GTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTATGGATTTTGCCCAC TCTGGACATTTCCTGTAAGTGGAATCACACAGCCCCACTTTGTGCCTGTA TGGATTTTGCCCACTCTGGACATTTCCTGTAAGTGGAATCACACAGCCCC ACTTTGTGCCTGTATGGATTTGCCCACTCTGGACATTTCCTGTAAGTGGA ATCA	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CENPJ_chr13_24877279_24927861	24881830	C C	CTATATAG others(373): Show CTATATAGATATATAGATGCATCTATATAGATATATAGATGCATCTATAT AGATATATAGATGCATCTATATAGATATATAATCTATATAGATATATAAT CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTATAT AGATATATAGATACATCTATATAGATATATAGATACATCTATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	438	0.0023	380	c.13 others(391): Show c.1346_*1347insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATGTATCTATATATCTATATAGATT ATATATCTATATAGATTATATATCTATATAGATGCATCTATATATCTATA TAGATGCATCTATATATCTATATAGATGCATCTATATATCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		448		chr13	TogoVar
CFAP20_chr16_58108592_58134381	58119811	C C	CTGTTCCC others(373): Show CTGTTCCCAACCTAAGTGCCCACCTCACTCGCCATCTCATGTTCCCAACC TAAGTGCCCACCTCACTCGCCATCTCATGTTCCCAACCTAAGTGCCCACC TCACTCGCCATCTACTGTTCCCAACCTAAGTGCCCACCTCACTCGCCATC TACTGTTCCCAACCTAAGTGCCCACCTCACTCGCCATCTACTGTTCCCAA CCTAAGTGCCCACCTCACTCGCCATCTCATGTTCCCAACCTAAATGCCCA CCTCACTCGCCATCTCATGTTCCCAACCTAAGTGCCCACCTCACTCGCCA TCTCATGTTCCCAACCTAAGTGCCCACCTCACTCGCCATCTCATGTTCCC AACCTAAGTGCCCACCTCACTCGCCATCTCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0165 a0001c0001t0012g0165	1	123	0.0081	380	c.85- others(395): Show c.85-2861_85-2860insTGAGATGGCGAGTGAGGTGGGCACTTAGGT TGGGAACATGAGATGGCGAGTGAGGTGGGCACTTAGGTTGGGAACATGAG ATGGCGAGTGAGGTGGGCACTTAGGTTGGGAACATGAGATGGCGAGTGAG GTGGGCATTTAGGTTGGGAACATGAGATGGCGAGTGAGGTGGGCACTTAG GTTGGGAACAGTAGATGGCGAGTGAGGTGGGCACTTAGGTTGGGAACAGT AGATGGCGAGTGAGGTGGGCACTTAGGTTGGGAACAGTAGATGGCGAGTG AGGTGGGCACTTAGGTTGGGAACATGAGATGGCGAGTGAGGTGGGCACTT AGGTTGGGAACATGAGATGGCGAGTGAGGTGGGCACTTAGGTTGGGAACA	CFAP20	ENSG00000070761.8	transcript	ENST00000262498.8	protein_coding	1/5			chr16	TogoVar
CHTF18_chr16_783620_803074	795580	G G	GCCCTTCT others(373): Show GCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGC CCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCC CCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCC CCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCC CAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCGTGC TGCCCGTGTGGCTGCCCACTCCCCATGCCCCCCCCATGCTGCCCGTGTGG CTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGCCCGTGTGGGTGCCCCTGG CCCCGTGCCGCCCCGCCCCTCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0040 a0040	a0040c0047 a0040c0047	a0040c0047t0002 a0040c0047t0002	a0040c0047t0002g0012 a0040c0047t0002g0012	1	246	0.0041	380	c.217 others(397): Show c.2176-102_2176-101insTTCTCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTG CCCCCGGCCCCGTGCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCC CCGTGCCCCCCCCCGTGCTGCCCGTGTGGCTGCCCACTCCCCATGCCCCC CCCATGCTGCCCGTGTGGCTGTCCCCTCCCCCGTGCCCCCCCCGTGCTGC CCGTGTGGGTGCCCCTGGCCCCGTGCCGCCCCGCCCCTCCCCTCCCCCCC CC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar

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