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
ZNF705A_chr12_8152015_8185046	8184239	C C	CGGCCAGC others(397): Show CGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCCTCTGCCCGGCTGCCC CTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGCCGCCCCGTCCGGGAG GTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGAGGTCAGCCCCC CGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCC CACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	23	0.0435	404	c.66 others(415): Show c.6656_*6657insGGCCAGCCGCCCCGTCCGGGAAGTGAGGGGCGCC TCTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCTCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC TGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCTGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCTCCGTCCGGGAGGGAGGT GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGAGGTCAGCCCCCCGCCCAGCCAGCTGCCCCGTCCGGGAGGGAGGTGG GGGGGGTCAGCCCCCCACCT	ZNF705A	ENSG00000196946.11	transcript	ENST00000396570.8	protein_coding		4194		chr12	TogoVar
ZSCAN22_chr19_58321994_58347332	58326569	G G	GCCTCACA others(397): Show GCCTCACACAGCCGCCCTCACCCTCAGCCCTCAAACAGCCACCCTCAGCC TCACACAGGCACCCTCACCCTCACACAGGCACCCTCACCCTCAGACCCTC AAACAGGCACCCTCACCCTCAGCCCTCACACAGCCAACCCCATCCCTCAC ACAGGCACCCTCAGCCCTCACACAGCCGGCCTCACCCTCAGCCTCACACA GGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGC ACCCTCAGCCTCACCCTCACACAGGCACCCTCAGCCTCACACAGGCACTC TCACCCTCAGCCCTCACACAGCCGGCCTCACCCTCAGCCTCACACAGGCA CCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCTCACACAGGCACCC TCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0025 a0004c0005t0025	a0004c0005t0025g0052 a0004c0005t0025g0052	1	314	0.0032	404	c.-59 others(413): Show c.-597_-596insCCTCACACAGCCGCCCTCACCCTCAGCCCTCAAACA GCCACCCTCAGCCTCACACAGGCACCCTCACCCTCACACAGGCACCCTCA CCCTCAGACCCTCAAACAGGCACCCTCACCCTCAGCCCTCACACAGCCAA CCCCATCCCTCACACAGGCACCCTCAGCCCTCACACAGCCGGCCTCACCC TCAGCCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCA GCCTCACACAGGCACCCTCAGCCTCACCCTCACACAGGCACCCTCAGCCT CACACAGGCACTCTCACCCTCAGCCCTCACACAGCCGGCCTCACCCTCAG CCTCACACAGGCACCCTCAGCCCTCACACAGCCGCCCTCACCCTCAGCCT CACACAGGCACCCTCAGC	ZSCAN22	ENSG00000182318.6	transcript	ENST00000329665.5	protein_coding		424		chr19	TogoVar
ACOT11_chr1_54543228_54615329	54561917	C C	CCCCCCAC others(398): Show CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCG GGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCTGGGCAGGGGG GCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGCCGA	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03491.hp1 HG01517.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0006 a0001c0001t0002g0008	2	283	0.0071	405	c.33+ others(422): Show c.33+13580_33+13581insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCGGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCC CACCTCCCTCCCGGATGGGGCGGCTGGCCGGGTGAGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGG CTGGCTGGGCAGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCGGGGGGCCGACCCCC	ACOT11	ENSG00000162390.18	transcript	ENST00000343744.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTN2_chr1_236681499_236769631	236714140	A A	ATGTATAC others(398): Show ATGTATACACAGATACCACTGAAGGGATATGCAAGAGACTGATAGCTTCA TTCCTAACTGTGTGTTTATGTATACACAGATACCACTGAAGGGATATGCA AGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGATAA CCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGT TTATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCT TCATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATA TGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAG ATACCACTGAAGCGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0065 a0001c0004t0005g0065	1	342	0.0029	405	c.127 others(422): Show c.127-3664_127-3663insAACTGTGTGTTTATGTATACACAGATAC CACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTT TATGTATACACAGATAACCACTGAAGGGATATGCAAGAGACTGATAGCTT CATTCCTCACTGTGTGTTTATGTATACACAGATAACCACTGAAGGGATAT GCAAGAGACTGATAGCTTCATTCCTCACTGTGTGTTTATGTATACACAGA TAACCACTGAAGGGATATGCAAGAGACTGATAGCTTCATTCCTCACTGTG TGTTTATGTATACACAGATACCACTGAAGCGATATGCAAGAGACTGATAG CTTCATTCCTCACTGTGTGTTTCTGTATACACAGATACCACTGAAGGGAT ATGCAAGAGACTGATAGCTTCATTCCT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(398): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	224	0.0045	405	c.-10 others(416): Show c.-1083_-1082insGATATATATAAATTTTTATATATGATATATATAA ATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATGATATATAAATATAAATTTTTATATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATA TAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(398): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TATATCATATATAAAAATTTATATTTATCATATATAAAAATTTATATTTA TATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	405	c.-10 others(416): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATAAAT ATAAATTTTTATATATGATATATATAAATTTTTATATATGATATATAAAT ATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATGATAT ATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATG ATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATA TATGATATATAAATATAAATTTTTATTTATGATATATAAATATAAATTTT TATTTATGATATATAAATATAAATTTTTATATATTTATGATATATAAATA TAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS17_chr15_99966437_100346975	100011300	G G	GGGGAGGG others(398): Show GGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGGAAGGAAAGGAG AGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGTGGGAAGGAAAGG AGGGATGGGAGGGTGGGAGAGAAGGAAAGGATGGGAGGGAGGGAGGGAAG GAAAGGAGGGATGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAA GGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGGGAGGGAGGGA GGGAAGGAAAGGAGGGATGGGAGGGAGGGAGGGAAGGAAAGGAGGGATGG GAGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0024 a0002c0001t0024	a0002c0001t0024g0175 a0002c0001t0024g0175	1	25	0.0400	405	c.259 others(426): Show c.2592-13712_2592-13711insTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCC TCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCTCCTTTCCTTC CCTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCCATCCCT CCTTTCCTTCCCTCCCTCCCATCCCTCCTTTCCTTCCCTCCCTCCCTCCC ATCCTTTCCTTCTCTCCCACCCTCCCATCCCTCCTTTCCTTCCCACCCTC CCATCCCTCCTTTCCTTCCCTCCCTCCCATCTCTCCTTTCCTTCCCCTCC CTCCCTCCCATCCCTCCTTTCCTTCCCTCCC	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	18/21			chr15	TogoVar
ADGRE2_chr19_14727392_14783560	14774674	T T	TTTTCTTT others(398): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0098 a0003c0003t0011g0098	1	138	0.0072	405	c.32- others(418): Show c.32-369_32-368insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAA	ADGRE2	ENSG00000127507.18	transcript	ENST00000315576.8	protein_coding	2/20			chr19	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(398): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTCTCCTCCTCCTCCTCCTCCTCCTC CTCCTC	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0153 a0001c0001t0007g0153	1	123	0.0081	405	c.-1- others(420): Show c.-1-5710_-1-5709insGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(398): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT CTCCTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	123	0.0081	405	c.-1- others(420): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAA GAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAG AAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(398): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCTTC TCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	123	0.0081	405	c.-1- others(420): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ADGRG2_chrX_18984307_19127468	19074544	T T	TTTCTTCT others(398): Show TTTCTTCTTCTTCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCC TTCTCCTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTTCTTCTCCTTCTTCCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCC	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	123	0.0081	405	c.-1- others(420): Show c.-1-5710_-1-5709insGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAA GAAGAAGGAAGAAGGAGAAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAG GAGAAGGAGAAGGAGAAGGAGAAGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAA GGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG AGAAGGAGAAGAAGAAGAAGAAGAA	ADGRG2	ENSG00000173698.18	transcript	ENST00000379869.8	protein_coding	2/28			chrX	TogoVar
ANO9_chr11_412938_447011	431458	C C	CCCGCGGG others(398): Show CCCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGG GCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAA GGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGG GCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGG GTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGG GGGCTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGGGATGTGG GGGCGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	279	0.0036	405	c.539 others(420): Show c.539+235_539+236insACGCCCCCACATCCCCGCAGACGCCCCCAG ATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCGCAGAAGCCCCCCCAGATACCCGCGGACGCCCCC ACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGC GGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCC AGATACCCGCGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCGC GGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCC ACACCCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCC CGCAGACGCCCCCAGGTACCCGCGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ANO9_chr11_412938_447011	431458	C C	CCCGCGGG others(398): Show CCCGCGGGTACCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG CTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAAG GGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGG TATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGG GGCTTCTGCGGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGC GGGGGTGTGGGGGCTCCTGCGGGTATCTGGGGGCGTCTGCGGGGATGTGG GGGCGT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	279	0.0036	405	c.539 others(420): Show c.539+235_539+236insACGCCCCCACATCCCCGCAGACGCCCCCAG ATACCCGCAGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGG GAGCCCCCACACCCCCCGCAGAAGCCCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCG CGGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCC CAGATACCCGCGGACGCCCCCACACCCTTGCAGAAGCCCCCAGATACCCG CGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCC CACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCCC CGCAGACGCCCCCAGGTACCCGCGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ATP11A_chr13_112685038_112892168	112761631	G G	GTCCCCTG others(398): Show GTCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCA CATAGGTTTGGGTACTGTCTCGGATTCAGGAGTCCCCTGGGGTCTTGGAA GCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTGTC TCGGATTCAGGAATCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGG GGACATCGTGCACATAGGTTTGGGTACTGTCTCGGATTCAGGAATCCCCT GGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGT TTGGGTACTGTCTCGGATTCAGGAGTCCCCTGGGGTCTTGGAAGCACCCC TGAGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATCTCGGATT CAGGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0046 a0001c0042t0046	a0001c0042t0046g0148 a0001c0042t0046g0148	1	222	0.0045	405	c.40- others(422): Show c.40-23490_40-23489insGGAAGCACCCCTGAGGATAAAGGGGACA TCGTGCACATAGGTTTGGGTACTGTCTCGGATTCAGGAGTCCCCTGGGGT CTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGG TACTGTCTCGGATTCAGGAATCCCCTGGGGTCTTGGAAGCACCCCTGAGG ATAAAGGGGACATCGTGCACATAGGTTTGGGTACTGTCTCGGATTCAGGA ATCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCA CATAGGTTTGGGTACTGTCTCGGATTCAGGAGTCCCCTGGGGTCTTGGAA GCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATC TCGGATTCAGGAATCCCCTGGGGTCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCC others(398): Show TGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCC AGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTG TCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGC CCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	223	0.0045	405	c.36 others(416): Show c.3604_*3605insGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTG GCAGAGCCAGCCCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCGGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(398): Show TGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGTG GAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGGG TGGGGGTGGGGGGAGGGTTGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGG GCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTGGGGCTGGGGAGGGG TGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGGGTGGGGTG GGGTGGGAGGGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGG GGTGGAGGAGGGGTGGGGTGGGGGGAAGGGTGCAGGTGGGGTGGAGGAGG GGTGGAGGAGGGGTGGGGGAGGAGGGGTGGGGTGGGGGGAAGGGTGTGGG TGGGGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	4	0.2500	405	c.712 others(422): Show c.712-2416_712-2415insCCCCCACCCACACCCTTCCCCCCACCCC ACCCCTCCTCCCCCACCCCTCCTCCACCCCTCCTCCACCCCACCTGCACC CTTCCCCCCACCCCACCCCTCCTCCACCCCACCCAGGGAGTAGCCCCCAC TCCACCCCACCCCCTCCCCCTCCCACCCCACCCCACCCCTCCCCAGCCCC ACCCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAGCCCCACACACA CCCTTCCCCCACCCCAACCCTCCCCAGCCCCCACCCACACCCTTCCCCCA CCCCACCCCAACCCTCCCCCCACCCCCACCCCAACCCTCCCCAGCCCCAC ACACCCTTCCCCCACCCCAACCCTCCTCCACCCCACCCAGGGAGTAGCCC CCACTCCACCCCACCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CCDC183_chr9_136791338_136812741	136803145	G G	GCCGGGGG others(398): Show GCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTCGCTCGATGGGTCAAGGTGAGCTCAGGGCC CAGGGC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0025 a0002c0002t0001g0025	1	218	0.0046	405	c.666 others(420): Show c.666+360_666+361insCGGGGGCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGCCCAGGGCCGGGGGCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTCGCTCGATGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CCDC183_chr9_136791338_136812741	136803280	G G	GCCGGGGC others(398): Show GCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGG TGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0122 a0001c0037t0001g0122	1	309	0.0032	405	c.666 others(420): Show c.666+495_666+496insCGGGGCCCCCCAGGGCCAGCCCTCTTGGAT CTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCTCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	CCDC183	ENSG00000213213.14	transcript	ENST00000338005.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
CDC42SE2_chr5_131259053_131399672	131278741	C C	CCCCCTCC others(398): Show CCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCCC CTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCTCCCCTCCCCTC CCCTCT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	12	0.0833	405	c.-45 others(426): Show c.-455+14589_-455+14590insCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCCTCCCTTCCCCTCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CEP72_chr5_607340_658553	628635	C C	CCCCAGGA others(398): Show CCCCAGGACCCAGCGCCCTTCTTTGTGCAGCGTTCTGGAGAACTCAGGTT GCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTTGTGCAGCT TCTGGAGAACTCAGGTCACAGGCCCCGGGGAGTGTTCCCAGGACCCAGCC CCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCCCGGGGAGT GTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGT TGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTTTGTGCAGC GTTCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGGACCCAG CCCCCTTCTTTGTGCAGCGTTCTGGAGAACTCAGGTCACAGGCCCCGGGG AGTGTT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	59	0.0169	405	c.512 others(422): Show c.512+4069_512+4070insGCCCTTCTTTGTGCAGCGTTCTGGAGAA CTCAGGTTGCCGTCCCTGGGGAGTGGCCCCAGGACCCAGCCCCCTTCTTT GTGCAGCTTCTGGAGAACTCAGGTCACAGGCCCCGGGGAGTGTTCCCAGG ACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGAACTCAGGTTGCAGTCCC CGGGGAGTGTTCCCACGACCCAGCCCCCTTCTTTGTGCAGCTTCTGGAGA ACTCAGGTTGCCGTCCCCAGGGAGTGGCCCCAGGACCCAGCGCCCTTCTT TGTGCAGCGTTCTGGAGAACTCAGGTTGCCGTCCCTGGGGAGTGGCCCCA GGACCCAGCCCCCTTCTTTGTGCAGCGTTCTGGAGAACTCAGGTCACAGG CCCCGGGGAGTGTTCCCAGGACCCAGC	CEP72	ENSG00000112877.8	transcript	ENST00000264935.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CHL1_chr3_191763_414417	262379	C C	CAGATCTA others(398): Show CAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGAT CTACACAGTACTTACAGGGCAGGATTCACACGTTTAAGCCCAGATCTACA CAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTA CTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCAC AGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGC AGGATTCACACGTTTAAGCCTAGATCTACACAGTATTCACAGGGCAGGAT TCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATTCACA CGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTT AAGCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp1 HG02257.hp2 others(3): Show HG02074.hp1 HG02109.hp1 HG02257.hp2 HG03098.hp2 HG04228.hp2 HG06807.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0007 a0001c0001 a0003c0003 a0008c0007	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0029 a0003c0003t0007 a0008c0007t0001	a0001c0001t0001g0233 a0001c0001t0005g0242 a0001c0001t0010g0033 others(3): Show a0001c0001t0001g0233 a0001c0001t0005g0242 a0001c0001t0010g0033 a0001c0001t0029g0091 a0003c0003t0007g0248 a0008c0007t0001g0243	6	237	0.0253	405	c.-95 others(424): Show c.-95+17731_-95+17732insTAGATCTACACAGTACTTACAGGGCA GGATTCACACGTTTAAGCCCAGATCTACACAGTACTCACAGGGCAGGATT CACACGTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACAC GTTTAAGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTA AGCCTAGATCTACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCT AGATCTACACAGTATTCACAGGGCAGGATTCACACGTTTAAGCCCAGATC TACACAGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACAC AGTACTCACAGGGCAGGATTCACACGTTTAAGCCTAGATCTACACAGTAC TCACAGGGCAGGATTCACACGTTTAAGCC	CHL1	ENSG00000134121.10	transcript	ENST00000256509.7	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHRM2_chr7_136863652_137025213	136867853	T T	TATATATA others(398): Show TATATATATATATATTCTGGATATATATATCCTGGACATATATATATATA TATATATATATATTCTGGATATATATATCCTGGACATATATATATATATA TATATATATTCTGGATATATATATCCTGGACATATATATATATATATATA TATTCTGGATATATATATATTCTGGATATATATATATATTCTGGATATAT ATATATATATTCTGGATATATATATATATTCTGGATATATATATCCTGGA CATATATATATATATATATATATTCTGGATATATATATATATATTCTGGA TATATATATCCTGGACATATATATATATATATATATATTCTGGATATATA TATCCTGGACATATATATATATATATATATATATTCTGGATATATATATC CTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0102 a0001c0001t0020g0102	1	120	0.0083	405	c.-14 others(416): Show c.-1422_-1421insATATATATATATATTCTGGATATATATATCCTGG ACATATATATATATATATATATATATATTCTGGATATATATATCCTGGAC ATATATATATATATATATATATATTCTGGATATATATATCCTGGACATAT ATATATATATATATATATTCTGGATATATATATATTCTGGATATATATAT ATATTCTGGATATATATATATATATTCTGGATATATATATATATTCTGGA TATATATATCCTGGACATATATATATATATATATATATTCTGGATATATA TATATATATTCTGGATATATATATCCTGGACATATATATATATATATATA TATTCTGGATATATATATCCTGGACATATATATATATATATATATATATT CTGGATATATATATCCTGGAC	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		798		chr7	TogoVar
CNOT1_chr16_58514951_58634826	58586397	G G	GGGGAGGG others(398): Show GGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGGGGGAG GGGAGGGGGAGGGGAAGGGGAGGGCAGGGGGAGGGGAAGGGGAGGGCAGG GGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGGG GACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGGG GAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGAG AGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGAAGGGGAGGGAA GGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAAGGGGAAGGGA AGGGGAGGGAAGGGGAGGGGAGGGGAGGGGAAGGGGAGGAGGGGGAGGGG AGGGCA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0087 a0001c0002t0003g0087	1	263	0.0038	405	c.637 others(420): Show c.637+147_637+148insTGCCCTCCCCTCCCCCTCCTCCCCTTCCCC TCCCCTCCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCTCCCCTTCC CTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCCTCCCCTTC CCCTCCCCTCCCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCC CTTCCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCC CTCCCCTCCCCCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCC CTCCCCTGCCCTTCCCTTCCCCTCCCCCTGCCCTCCCCTTCCCCTCCCCC TGCCCTCCCCTTCCCCTCCCCCTCCCCTCCCCCTGCCCTCCCCTTCCCCT CCCCCTGCCCTCCCCTTCCCCTCCC	CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48			chr16	TogoVar
CNOT3_chr19_54132762_54160681	54133829	C C	CCCTCCCT others(398): Show CCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCTCTCTGTCCCT CCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCTCTCCACCTCCCCTCT CTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCAC CTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCC TCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCACCT CCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTCCC TCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTTCCTCCCTCTCCAC CTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC CCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0126 a0001c0002t0001g0126	1	68	0.0147	405	c.-42 others(416): Show c.-4215_-4214insCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCC CCTCTCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCTCCCT CTCCACCTCCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTC CCTCCCTCTCTCCACCTCCCCTCACTCCACCTCCCCTCTCTCTCCCTCCC TCTCTCCACCTCCCCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCTT CCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTC TCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTC TTCCTCCCTCTCCACCTCCCCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTG	CNOT3	ENSG00000088038.20	transcript	ENST00000221232.11	protein_coding		3932		chr19	TogoVar
COL17A1_chr10_104026286_104090880	104036069	T T	TGTGTGTA others(398): Show TGTGTGTATGGGAGTGTGTGTATATGTGTGTGTATGGGAGTGTGTGTGTC TATGGGAGTGTATGGGAGTGAGTGTGAGTGGGAGTGTGCGTATGGGTGTG TGTGAGTATGGGAGTGTGAGTATGGGTGTGTATGGGAGAGTGTGTGTGTA TGGGAGTGTATGGGTATGTGTGTGTATGGGAGTGTGTGTATGAGTGTGAG TATGGGTGTGTGTGTATGGGAGTGTGTGTATGGGAGTGTGAGTATGGATG TGTGTATGGGTGTATGGGAGTGAGTGTGTGTATGGGAGTGTATGGGTGTG TGTGTATGGGAGTGAGTGTGAGTATGGGTTGTGTATGGGAGTGTGTATGG GAGTGTATGGGTGTGTGTGTATGGGAGTGTGAGTATGGGTGTGTGTATGG GAGTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0027 a0027	a0027c0038 a0027c0038	a0027c0038t0002 a0027c0038t0002	a0027c0038t0002g0279 a0027c0038t0002g0279	1	334	0.0030	405	c.341 others(422): Show c.3418+422_3418+423insTCACTCCCATACACACACCCATACTCAC ACTCCCATACACACACACCCATACACTCCCATACACACTCCCATACACAA CCCATACTCACACTCACTCCCATACACACACACCCATACACTCCCATACA CACACTCACTCCCATACACCCATACACACATCCATACTCACACTCCCATA CACACACTCCCATACACACACACCCATACTCACACTCATACACACACTCC CATACACACACATACCCATACACTCCCATACACACACACTCTCCCATACA CACCCATACTCACACTCCCATACTCACACACACCCATACGCACACTCCCA CTCACACTCACTCCCATACACTCCCATAGACACACACACTCCCATACACA CACATATACACACACTCCCATACACAC	COL17A1	ENSG00000065618.21	transcript	ENST00000648076.2	protein_coding	48/55			chr10	TogoVar
COL19A1_chr6_69861556_70217468	69920971	T T	TATATATG others(398): Show TATATATGATATATATCATATATACATATGATATATACATGATATATATG ATATATATGATACATATGATATATATGATATATATGATACATATGATATA TATGATATATATATGATACAAATGATATATATGATATATATGATATATAT CAGATATATATATCATATATATCATATATATCATTTGTATCATATATATA TCATATATATCATATGTATCATATATATCATATATATCATGTATATATCA TATATATCATATATGTATTCATATATATCATATATTCATATATAATATAT ATTCATATATCATATATATTCATATATATCATATAAATTCATATATCATA TATATTCATATATATCATATATATTCATATATATATCATATATATTCATA TATATC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02897.hp2 HG02886.hp1 HG02897.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0013 a0003c0010t0027 a0003c0010t0013 a0003c0010t0027	a0003c0010t0013g0173 a0003c0010t0027g0119 a0003c0010t0013g0173 a0003c0010t0027g0119	2	130	0.0154	405	c.267 others(422): Show c.267-6936_267-6935insATATGATATATATCATATATACATATGA TATATACATGATATATATGATATATATGATACATATGATATATATGATAT ATATGATACATATGATATATATGATATATATATGATACAAATGATATATA TGATATATATGATATATATCAGATATATATATCATATATATCATATATAT CATTTGTATCATATATATATCATATATATCATATGTATCATATATATCAT ATATATCATGTATATATCATATATATCATATATGTATTCATATATATCAT ATATTCATATATAATATATATTCATATATCATATATATTCATATATATCA TATAAATTCATATATCATATATATTCATATATATCATATATATTCATATA TATATCATATATATTCATATATATCAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COMMD10_chr5_116080025_116298287	116129674	G G	GTATATAT others(398): Show GTATATATATACTATATACTAATGTATAATACATTAGTATATATATACTA TATTATATACTAATGTATAATACATTAGTATATATATACTATATACTATA TACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATAT ACATTAGTATATATACTATATACTAATGTAATATACATTAGTATATATAT ACTATATACTAATGTAATATACATTAGTATATATACTATATACTAATGTA ATATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTAT ATATATACTATATACTAATGTAATATACATTAGTATATATATACTATATA CTAATGTAATATACATTAGTATATATATACTATATACTATGTAATATACA TTAGTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	316	0.0032	405	c.400 others(422): Show c.400-4374_400-4373insATGTATAATACATTAGTATATATATACT ATATTATATACTAATGTATAATACATTAGTATATATATACTATATACTAT ATACTAATGTAATATACATTAGTATATATATACTATATACTAATGTAATA TACATTAGTATATATACTATATACTAATGTAATATACATTAGTATATATA TACTATATACTAATGTAATATACATTAGTATATATACTATATACTAATGT AATATACATTAGTATATATATACTATATACTAATGTAATATACATTAGTA TATATATACTATATACTAATGTAATATACATTAGTATATATATACTATAT ACTAATGTAATATACATTAGTATATATATACTATATACTATGTAATATAC ATTAGTATATATATATACTATATACTA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
CROCC2_chr2_240901336_240998311	240978401	T T	TCTCTGGG others(398): Show TCTCTGGGGTAGGAGCCTCTGGAGCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0023 a0014c0014t0001g0023	1	211	0.0047	405	c.440 others(424): Show c.4402-4461_4402-4460insTGGAGCCCAGGCTCATCCCTGCTCAG TCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCT GGGGTAGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGATCCCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAG CCTCAGGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCA GGATCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGC CCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGG CTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCAT CCCTGCTCAGGCTCTGGGGTAGGAGCCTC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240979324	T T	TCCCAGGC others(398): Show TCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCA GGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTC ATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCATCCC TGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTC AGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAAGCT CTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCTGGG GTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGG AGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCT CTGGAG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0040 a0040	a0040c0065 a0040c0065	a0040c0065t0002 a0040c0065t0002	a0040c0065t0002g0253 a0040c0065t0002g0253	1	221	0.0045	405	c.440 others(424): Show c.4402-3536_4402-3535insGTCTCTGGGGTAGGAGCCTCAGGATC CCAGGCTCATCCCTGCTCAAGCTCTGGGGTAGGAGCCTCAGGATCCCAGG CTCATCCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGATCCCAGGCTCAT CCCTGCTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTG CTCAGTCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAA GCTCTGGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGGCTCT GGGGTAGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGT AGGAGCCTCAGGAGCCCAGGCTCATCCCTGCTCAGTCTCTGGGGTAGGAG CCTCTGGAGCCCAGGCTCATCCCTGCTCA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	27/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(398): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA CGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG03579.hp2 HG02055.hp1 HG02258.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0028 a0001c0001t0008g0064 a0001c0001t0008g0028 a0001c0001t0008g0064	3	140	0.0214	405	c.85+ others(418): Show c.85+519_86-626dupAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCGTAGGACTCACAGTCCACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(398): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA TGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02300.hp1 HG01257.hp1 HG01258.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	3	140	0.0214	405	c.86- others(418): Show c.86-626_86-625insAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCATAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCGTAGGACTCACAGTCCACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(398): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA TGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTATGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03130.hp1 HG01978.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0002 a0001c0001t0008 a0001c0002t0002	a0001c0001t0008g0063 a0001c0002t0002g0048 a0001c0001t0008g0063 a0001c0002t0002g0048	2	139	0.0144	405	c.86- others(418): Show c.86-626_86-625insAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCATAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCATAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCGTAGGACTCACAGTCCACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(398): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACTCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA CGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTAAGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0040 a0001c0001t0007g0040	1	138	0.0072	405	c.86- others(418): Show c.86-626_86-625insAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCTTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGAGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCGTAGGACTCACAGTCCACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(398): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGA GGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGG AAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0125 a0002c0002t0009g0125	1	197	0.0051	405	c.923 others(424): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCCCCTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCACTCCCCTCCCCC TCCCCTCACCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCATCCCT CCATTCCTCCATTCCTCCCTCCCTCCCTCCATTCCTTCCTCCCTCCCTCC CTTCATTCCTCCCTCCCTCCCTTCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDR2_chr1_162627464_162792405	162727099	A A	AAAATATA others(398): Show AAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATAT TTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTT ATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATAT ATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAAC ATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATAT AAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAA ATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTT GTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATA TTTTGT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02300.hp2 HG03139.hp1 others(1): Show HG02145.hp2 HG02300.hp2 HG03139.hp1 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0247 a0001c0002t0001g0275 a0001c0002t0001g0276 others(1): Show a0001c0002t0001g0247 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0278	4	94	0.0426	405	c.82+ others(420): Show c.82+8125_82+8126insCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAA ACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAAT ATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGT AAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATT TTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTA TATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATA TTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACA TATATTTATATTTTGTAAATATAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(398): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGGTGGGGGGGGGTGAG GGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGG GGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGGTGGGGGGGTG AGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGGGG GTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	164	0.0061	405	c.-42 others(416): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTG GGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGG GAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG GTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTG GGGGGTGGGGGGGTGAGGGAGTCGGGGGGGTGGGGGTGGGGTGGGGGGGG TGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(398): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATACATGTATATATACA CATATATACATATATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATATGTATA TATACACATATATACATATATGTATATATACACATATATACATATACACA CACACA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	64	0.0156	405	c.-15 others(426): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATATATGTA TATATGTGTATATATACATATATGTATATATGTGTATATATACATGTATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTATGTATATATGTGTATATATACATGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP1_chr18_3491032_4460307	4087104	C C	CATACATG others(398): Show CATACATGTATATATACACATATATACATACATGTATATATACACATATA TACATACATGTATATATACACATATATACATACATGTATATATACACATA TATACATACATGTATATATACACATATATACATACATGTATATATACACA TATATACATACATGTATATATACACATATATACATATATGTATATATACA CATATATACATATATGTATATATACACATATATACATATATGTATATATA CACATATATACATATATGTATATATACACATATATACATATATGTATATA TACACATATATACATATATGTATATATACACATATATACATATATGTATA TATACACATATATACATATATGTATATATACACATATATACATATACACA CACACA	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA21309.hp2 HG02965.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0024 a0001c0003t0035 a0001c0002t0024 a0001c0003t0035	a0001c0002t0024g0034 a0001c0003t0035g0074 a0001c0002t0024g0034 a0001c0003t0035g0074	2	65	0.0308	405	c.-15 others(426): Show c.-159+64075_-159+64076insTGTGTGTGTGTATATGTATATATG TGTATATATACATATATGTATATATGTGTATATATACATATATGTATATA TGTGTATATATACATATATGTATATATGTGTATATATACATATATGTATA TATGTGTATATATACATATATGTATATATGTGTATATATACATATATGTA TATATGTGTATATATACATATATGTATATATGTGTATATATACATATATG TATATATGTGTATATATACATGTATGTATATATGTGTATATATACATGTA TGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACATG TATGTATATATGTGTATATATACATGTATGTATATATGTGTATATATACA TGTATGTATATATGTGTATATATACATGTAT	DLGAP1	ENSG00000170579.19	transcript	ENST00000315677.8	protein_coding	2/12			chr18	TogoVar
DLGAP2_chr8_732628_1713476	801934	A A	ACTGGGCC others(398): Show ACTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGG GCCCTCCGTCCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCT CTGTCCTCACAGCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCGTC CTCACGGCCTGGGGAATGGTCCGCACTCCTCCTGGGCCCTCCGTCCTCAC GGCCTGGGGAATGGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCT GGGGAACGGTCTGCACCCCTCCTGGGTCCTCTGTCCTCACGGCCTGGGGA ATGGTCCGCACTCCTCCTGGGTCCTCCATCCTCACGGCCTGGGGAATGGT CCACACACCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCA CCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01361.hp2 HG01496.hp1 others(1): Show HG00639.hp2 HG01361.hp2 HG01496.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0004 a0001c0002 a0001c0010 a0002c0004	a0001c0002t0023 a0001c0010t0025 a0002c0004t0003 others(1): Show a0001c0002t0023 a0001c0010t0025 a0002c0004t0003 a0002c0004t0018	a0001c0002t0023g0005 a0001c0010t0025g0012 a0002c0004t0003g0009 others(1): Show a0001c0002t0023g0005 a0001c0010t0025g0012 a0002c0004t0003g0009 a0002c0004t0018g0010	4	40	0.1000	405	c.18+ others(422): Show c.18+64139_18+64140insTGGTCCGCACTCCTCCTGGGCCCTCCGT CCTCACGGCCTGGGGAACGGTCTGCACCCCTCCTGGGTCCTCTGTCCTCA CAGCCTGAGGAACAGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCC TGGGGAATGGTCCGCACTCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGG AATGGTCCGCACCCCTCCTGGGCCCTCCGTCCTCACGGCCTGGGGAACGG TCTGCACCCCTCCTGGGTCCTCTGTCCTCACGGCCTGGGGAATGGTCCGC ACTCCTCCTGGGTCCTCCATCCTCACGGCCTGGGGAATGGTCCACACACC TCCTGGGCCCTCCGTCCTCACGGCCTGGGGAATGGTCCGCACCCCTCCTG GGCCCTCCGTCCTCACGGCCTGGGGAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1521691	A A	ATCTGGTT others(398): Show ATCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGGGCAGGTGATA TGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGGGCGG CAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAATACT CAGGGGCAGGTGATTTGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTT GGAATACTCAGGCAGCAGGTGATATGGGGCGTCTCTGGTTTGCACACTTG TTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTGGTTTGC ACACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGACATCT GGTTTGCACACTTGTTTTAATTTGGAATACTCAGGCAGCAGGTGATATGG GGCGTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp1 HG01496.hp2 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0004 a0003c0005t0002 a0003c0005t0004	a0003c0005t0002g0030 a0003c0005t0004g0037 a0003c0005t0002g0030 a0003c0005t0004g0037	2	40	0.0500	405	c.172 others(424): Show c.172+20303_172+20304insGTGATATGGGGCGTCTCTGGTTTGCA CACTTGTTTTAATTTGGAATACTCGGGCGGCAGGTGATATGGGGCATCTG GTTTGCACACTTGTTTTAATTTGGAATACTCAGGGGCAGGTGATTTGGGG CGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCAGGCAGCAGGT GATATGGGGCGTCTCTGGTTTGCACACTTGTTTTAATTTGGAATACTCGG GCGGCAGGTGATATGGGGCATCTGGTTTGCACACTTGTTTTAATTTGGAA TACTCGGGCGGCAGGTGATATGGGACATCTGGTTTGCACACTTGTTTTAA TTTGGAATACTCAGGCAGCAGGTGATATGGGGCGTCTCTGGTTTGCACAC TTGTTTTAATTTGGAATACTCGGGGGCAG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK1_chr10_126900428_127457516	126947448	G G	GTGGTGGT others(398): Show GTGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0105 a0001c0007t0001g0105	1	75	0.0133	405	c.47- others(422): Show c.47-23247_47-23246insAGTTGGTAGTATTACTGTTGGTGGTGGT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGG TGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGT AGTATTACTGTTGGTGGTGATGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947507	T T	TTGGTGGT others(398): Show TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT AGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTA GTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTAC TGTTGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0004 a0004	a0004c0032 a0004c0032	a0004c0032t0004 a0004c0032t0004	a0004c0032t0004g0106 a0004c0032t0004g0106	1	104	0.0096	405	c.47- others(422): Show c.47-23187_47-23186insATGGTGGTGGTTGGTAGTATTACTGTTG GTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGG TGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGG TAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TTGGTAGTATTACTGTTGGTGGTGGTG	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	126947680	A A	ATGGTGGT others(398): Show ATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGA TGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGTTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTG GTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTA GTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGTTGG TGATGG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0020 a0001c0007t0001g0020	1	47	0.0213	405	c.47- others(422): Show c.47-23015_47-23014insGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATT ACTGTTGGTGGTGATGGTGGTAGTTGGTAGTATTACTGTTGGTGATGGTG GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGTTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGG TGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTAT TACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGAT GGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGT ATTACTGTTGTTGGTGATGGTGGTGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK8_chr9_209865_470255	400638	C C	CCACCATC others(398): Show CCACCATCACCACCACCTCCACCACCACCACCTCCCCCACTACCAACAGC TCCTTCACCATCACCACAACATCCACCACCACCATCACCACCACCACCAC CACCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCA TCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATC TTCACCATCACCACCACCACCTCCACCACCACCACCTCCACCATCACCAC CTCCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCACCA TCACCACCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCC ACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0106 a0001c0003t0001g0106	1	226	0.0044	405	c.323 others(424): Show c.3234+1408_3234+1409insCCTCCCCCACTACCAACAGCTCCTTC ACCATCACCACAACATCCACCACCACCATCACCACCACCACCACCACCTC CTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTTCACC ATCACCACCACCACCTCCACCACCACCACCTCCACCATCACCACCTCCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCACCACCATCACCA CCTCCTCCACCATCACCACCTCCTTCACCATCACCACCACCTCCACCATC ACCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCATCTT CACCATCACCACCACCTCCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400963	C C	CACCACCT others(398): Show CACCACCTCCTCCACCACCACCACCTCCACCACCACCACCACCACCACCA CCACCACCTCCACCATCACCACCTCCTTCACCATCACCATCACCTCCACC TCCACCACCACCTCCACCACCACCACCTCCACCATCACCACCACCTCCAC CATCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCTCCACCACCTCCACCACCAGCACTTCCACCATCACCACC TCCTTCACCATCACCATCACCACCACCTCCACCACCACCACCACCTCCAC CACCACCCTCACCACCTTCTCCACCACCACCATCTTCACCATCACCACCA TCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAAT ATCACT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02895.hp1 others(1): Show HG01884.hp1 HG02109.hp2 HG02895.hp1 HG02897.hp2	a0002 a0007 a0002 a0007	a0002c0019 a0002c0110 a0007c0109 a0002c0019 a0002c0110 a0007c0109	a0002c0019t0003 a0002c0110t0002 a0007c0109t0002 a0002c0019t0003 a0002c0110t0002 a0007c0109t0002	a0002c0019t0003g0038 a0002c0019t0003g0039 a0002c0110t0002g0040 others(1): Show a0002c0019t0003g0038 a0002c0019t0003g0039 a0002c0110t0002g0040 a0007c0109t0002g0094	4	230	0.0174	405	c.323 others(424): Show c.3234+1707_3234+1708insACCTCCTCCACCACCACCACCTCCAC CACCACCACCACCACCACCACCACCACCTCCACCATCACCACCTCCTTCA CCATCACCATCACCTCCACCTCCACCACCACCTCCACCACCACCACCTCC ACCATCACCACCACCTCCACCATCACCACCTCCACCATCACCACCACCTC CACCATCACCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCA GCACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCC ACCACCACCACCACCTCCACCACCACCCTCACCACCTTCTCCACCACCAC CATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATATCACTACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400975	C C	CACCACCA others(398): Show CACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCT CCACCACCACCAGCTCCACCATCACCACCTCCTTCACCATCACCACCACC ACCTCCTCCACCACCACCACCACCTCCACCACCACCTCCTCCACTACCAC CACCATCTTCACCATCACCACCACCACCTCCATCACCACCACCTCCACCA TCACCACCACCTCCACCACCACCAGCTCCACCACCACCACCACTTCCACC ATCACCACCTCCTTCACCATCACCATCACCACCACCACCACCACCACCAC CTCCACCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCATCA CCACCATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACC TCCAAT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02723.hp2 HG02572.hp1 HG02723.hp2	a0010 a0041 a0010 a0041	a0010c0156 a0041c0149 a0010c0156 a0041c0149	a0010c0156t0001 a0041c0149t0010 a0010c0156t0001 a0041c0149t0010	a0010c0156t0001g0052 a0041c0149t0010g0071 a0010c0156t0001g0052 a0041c0149t0010g0071	2	156	0.0128	405	c.323 others(424): Show c.3234+1717_3234+1718insCCACCACCTCCTCCACCATCACCACC AGCTCCACCATCACCACCACCTCCACCACCACCAGCTCCACCATCACCAC CTCCTTCACCATCACCACCACCACCTCCTCCACCACCACCACCACCTCCA CCACCACCTCCTCCACTACCACCACCATCTTCACCATCACCACCACCACC TCCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCTC CACCACCACCACCACTTCCACCATCACCACCTCCTTCACCATCACCATCA CCACCACCACCACCACCACCACCTCCACCACCACCGTCACCACCTTCTCC ACCACCACCATCTTCACCATCACCACCATCGCCCTGCCCACCTCTAGCAA TATTATCACCTTTCCTATCACCTCCAATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPP6_chr7_154047398_154899285	154060716	G G	GGTGGGGA others(398): Show GGTGGGGAGGCACCCCCTACGAGAGTGGGGACTGAGAGCTATCCCCTCTT CCGCCCCTGGCTGTTAGTACCCCCATCGCAGGGTGGGGGAGGCACCCTCC CGCGAGGCAGGGACTGAGAGCCAGCCTCTGTTCCCCCACTGGCTCTTAGG ACCCCCATCGCAGAGCGGGGAGGGACCCCCCACGAGGCGGGGACTGAGAG CCAGTCCCTCTTCCCCCTCTGGCTCTTAGGAACCCCATCGCAGGAGGGTG TGGCACCCCCCACGAGGGTGGGGACTGAGAGCTATCCCCTCTTCCGCCCC TGGCTGTTAATACCCCCATCGCAGGGTGGGGGAGGCACCCCCCGCGAGGT AGGGACTGAGAGCCTGCCCCTGTTCCCCCACTGGCTCTTAGGACCCCCAT CGCAGA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0010 a0001c0010t0010	a0001c0010t0010g0009 a0001c0010t0010g0009	1	38	0.0263	405	c.243 others(422): Show c.243+7654_243+7655insTGGGGAGGCACCCCCTACGAGAGTGGGG ACTGAGAGCTATCCCCTCTTCCGCCCCTGGCTGTTAGTACCCCCATCGCA GGGTGGGGGAGGCACCCTCCCGCGAGGCAGGGACTGAGAGCCAGCCTCTG TTCCCCCACTGGCTCTTAGGACCCCCATCGCAGAGCGGGGAGGGACCCCC CACGAGGCGGGGACTGAGAGCCAGTCCCTCTTCCCCCTCTGGCTCTTAGG AACCCCATCGCAGGAGGGTGTGGCACCCCCCACGAGGGTGGGGACTGAGA GCTATCCCCTCTTCCGCCCCTGGCTGTTAATACCCCCATCGCAGGGTGGG GGAGGCACCCCCCGCGAGGTAGGGACTGAGAGCCTGCCCCTGTTCCCCCA CTGGCTCTTAGGACCCCCATCGCAGAG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EBF2_chr8_25836725_26050413	26005387	A A	ATATTAAA others(398): Show ATATTAAATTATATATAATATATATTATATATATAATTTATATATATAAA ATATATTATATATTATATATTATATAAATATATATATTTTATATATATAA AATATATATTTTATAATATATAATATAGAAATATATATTATATAATATAT AATTATATATAATTATATATTATATAATATATATTTCTATATTATATATT TATAATGTATAATATATAAATATATTATAAATATATATTATATACTATAT AATGCATTATAAATATATTATATTTATATATTATAAATATATTACATATT TATATATTATATATATAATATATATATTATATATTATAAATATATTTTAT AAAATATAATATATATATTATTATTATATTTTATAAAATATAATAATAAT ATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0150 a0001c0001t0031g0150	1	92	0.0109	405	c.551 others(424): Show c.551+27697_551+27698insATATATATTATTATTATATTTTATAA AATATAATAATAATATATATATTATATTTTATAAAATATATTTATAATAT ATAATATATATATTATATATATAATATATAAATATGTAATATATTTATAA TATATAAATATAATATATTTATAATGCATTATATAGTATATAATATATAT TTATAATATATTTATATATTATACATTATAAATATATAATATAGAAATAT ATATTATATAATATATAATTATATATAATTATATATTATATAATATATAT TTCTATATTATATATTATAAAATATATATTTTATATATATAAAATATATA TATTTATATAATATATAATATATAATATATTTTATATATATAAATTATAT ATATAATATATATTATATATAATTTAATA	EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15			chr8	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(398): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18957.hp1 HG02896.hp2 NA18957.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0014 a0001c0003t0002 a0001c0003t0014	a0001c0003t0002g0067 a0001c0003t0014g0007 a0001c0003t0002g0067 a0001c0003t0014g0007	2	75	0.0267	405	c.282 others(424): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar

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