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
AKT3_chr1_243494724_243855243	243525837	G G	GGGAGGAG others(363): Show GGGAGGAGGGGAGGGGAGGGGAGAAGGTGAAGAGGGGAAGGAGAGGAGGG GGAGGTGGAGGAGGGGGAGGAGGAGGAGGAGGAGAAGGGGGAGGAGAAGG GGAAGGAGCAGAAAGGGGAGGAGAAGGGGAGGAGGAGGGGGAGGAGGAGG AGAAGGGGAGGAGGAGGGGGAGGAGGGGGAGGGGGAGGGGGAGGGGGGGA GGGGGGGAGGGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGGGGAGG AGGGGGAGGAGGAGGAGGAGGGGGGGAGGAGGGGGAGGAGGAGGAGGAGG GGAGGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGAGGAGGGGGA GGAGGAGGAGGGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	119	0.0084	370	c.125 others(391): Show c.1252-13412_1252-13411insTCCTCCTCCCCCTCCTCCTCCTCC CCCTCCTCCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCCTCCCCT CCTCCTCCTCCTCCCCCTCCTCCCCCCCTCCTCCTCCTCCTCCCCCTCCT CCCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCTCCCCCCCTCC CCCCCTCCCCCTCCCCCTCCCCCTCCTCCCCCTCCTCCTCCCCTTCTCCT CCTCCTCCCCCTCCTCCTCCCCTTCTCCTCCCCTTTCTGCTCCTTCCCCT TCTCCTCCCCCTTCTCCTCCTCCTCCTCCTCCCCCTCCTCCACCTCCCCC TCCTCTCCTTCCCCTCTTCACCTTCTCCCCTCCCCTCCCCTCCTCC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
ANO2_chr12_5557655_5950259	5931519	C C	CAGACTAG others(363): Show CAGACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGA AGGCAGACCAGTAAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGT AAGAAAGTGACTAATAAGGAAAGAAGGCAGACGAGTGAGGAAAGAAGGTA GACTAGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAG GCAGACGAGAGAGGAAAGAAGGTAGACTAGTAAGGAAGGAAGACTGGTAA GAAAGTGACTAATAAGGAAAGAAGGTAGACGAGTAAGGAAGGAAGGTAGA CTCGTAAGGAAGGAAGACTGGTAAGAAAGTGACTAATAAGGAAAGAAGGC AGACGAGTAAGGAAAGAAGAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0007 a0001c0020t0001g0007	1	88	0.0114	370	c.23- others(385): Show c.23-8716_23-8715insATCTTCTTTCCTTACTCGTCTGCCTTCTTT CCTTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACGAGTCTACCTTC CTTCCTTACTCGTCTACCTTCTTTCCTTATTAGTCACTTTCTTACCAGTC TTCCTTCCTTACTAGTCTACCTTCTTTCCTCTCTCGTCTGCCTTCTTTCC TTATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCTACCTTCTT TCCTCACTCGTCTGCCTTCTTTCCTTATTAGTCACTTTCTTACCAGTCTT CCTTCCTTACTAGTCTACCTTCTTTCCTTACTGGTCTGCCTTCTTTCCTT ATTAGTCACTTTCTTACCAGTCTTCCTTCCTTACTAGTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	1/24			chr12	TogoVar
ARHGEF10_chr8_1818926_1963641	1828348	A A	ATGCACAC others(363): Show ATGCACACTTAACGGTTTTAAGGAATTACATTTTGATAAACCGTGGCATG CACACTTACTGTTTTAAGGAATTACATTTTGATAAACCGTGGCATGCACA CTTACTGTTTTAAGGAATTACATTTTGATAAACCGTGGCATGCACACTTA CGGTTTTAAGGAATTACATTTTGATAAACCGTGGCATGCACACTTACTGT TTTAAGGAATTACATTTTGATAAACCGTGGCATGCACACTTCCTGTTTTA AGGAATTACATTTTGATAAACCGTGGCGTGCACACTTAACGGTTTTAAGG AATTACATTTTGATAAACCGTGGCATGCACACTTACTGTTTTAAGGAATT ACATTTTGATAAACCGTGGCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 NA20805.hp1 HG03491.hp2 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0135 a0005c0088 a0001c0135 a0005c0088	a0001c0135t0007 a0005c0088t0007 a0001c0135t0007 a0005c0088t0007	a0001c0135t0007g0088 a0005c0088t0007g0018 a0001c0135t0007g0088 a0005c0088t0007g0018	2	362	0.0055	370	c.-48 others(387): Show c.-48+4459_-48+4460insCGTGGCATGCACACTTCCTGTTTTAAGG AATTACATTTTGATAAACCGTGGCGTGCACACTTAACGGTTTTAAGGAAT TACATTTTGATAAACCGTGGCATGCACACTTACTGTTTTAAGGAATTACA TTTTGATAAACCGTGGCGTGCACACTTAACGGTTTTAAGGAATTACATTT TGATAAACCGTGGCATGCACACTTACTGTTTTAAGGAATTACATTTTGAT AAACCGTGGCATGCACACTTACTGTTTTAAGGAATTACATTTTGATAAAC CGTGGCATGCACACTTACGGTTTTAAGGAATTACATTTTGATAAACCGTG GCATGCACACTTACTGTTTTAAGGAATTACATTTTGATAAAC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049484	G G	GGAGAACA others(363): Show GGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACA CATGGGGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACATGG GGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGG AGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGAGAACACAT GGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAG AGGAGAACACATGGGGGCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0068 a0002c0002t0001g0068	1	291	0.0034	370	c.52 others(381): Show c.5246_*5247insTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGT ATTCCCCTCTGCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTC TGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCA TGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCTCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCC CATGTATTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTC TCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCTCCTCTGC CCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2619		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049620	G G	GGGGGGCA others(363): Show GGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGGGGGCAGA GGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATA CATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGGG CAGAGGAGAACACATGGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAG AACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAACACATGG GGGCAGAGGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAG GGGAACACATGGGGGCAGAGGAGAACACATGGGGGGCAGAGGAGAACACA TGGGGGCAGAGGAGAACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0018 a0002c0002t0001g0018	1	296	0.0034	370	c.51 others(381): Show c.5110_*5111insATGTGTTCTCCTCTGCCCCCATGTGTTCTCCTCT GCCCCCCATGTGTTCTCCTCTGCCCCCATGTGTTCCCCTCTGCCCCCATG TGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGTGTTCCCC TCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCC CATGTGTTCTCCTCTGCCCCCCATGTGTTCTCCTCTGCCCCCCATGTATT CCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCCCATGTATTCCCCTCTGC CCCCATGTGTTCTCCTCTGCCCCCCATGTGTTCCCCCTCTGCCCCCATGT GTTCCCCTCTGCCCCCATGTGTTCTCCTCTGCCCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2483		chr8	TogoVar
ASB5_chr4_176208673_176274222	176218280	T T	TATATATA others(363): Show TATATATATTTGTATGATATATATATTTGTATGATATATAAATATATATA TTTGTATGATATATAAATATACATGTATGATATATAAATATATATTTGTA TGATATATAAATATATATATATTTGTATGATATATAAATATATATATATT TGTATGATATATATATTTGTATGATATATAAATATATATTTGTATGACAT ATAAATATATATTTGTATGACATATAAATATATATATTTGTATGACATAT AAATATATATATTTGTATGACATATAAATATATATGTATGATATATAAAT ATATATTTGTATGATATATAAATATATATATTTGTATGATATATAAATAT ATATATTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	384	0.0026	370	c.671 others(387): Show c.671-1272_671-1271insTTATATATCATACAAATATATATATTTA TATATCATACAAATATATATATTTATATATCATACAAATATATATTTATA TATCATACATATATATTTATATGTCATACAAATATATATATTTATATGTC ATACAAATATATATATTTATATGTCATACAAATATATATTTATATGTCAT ACAAATATATATTTATATATCATACAAATATATATATCATACAAATATAT ATATATTTATATATCATACAAATATATATATATTTATATATCATACAAAT ATATATTTATATATCATACATGTATATTTATATATCATACAAATATATAT ATTTATATATCATACAAATATATATATCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(363): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCC ACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCC CACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0034 a0001c0002t0034	a0001c0002t0034g0179 a0001c0002t0034g0179	1	5	0.2000	370	c.39+ others(387): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCCCCCCACCCCCCACCTCCCCCACCTCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCTACCCCCCACCCCCCACCTCCCC CCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(363): Show TCCCCACCTCCCCCCACCCCCCCCACCTCCCCCACCCCCCCACCCCCCAC CTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCCA CCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCC CACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCCCCACCCC CCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCCA CCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0076 a0001c0017t0076	a0001c0017t0076g0154 a0001c0017t0076g0154	1	5	0.2000	370	c.39+ others(387): Show c.39+32844_39+32845insACCCCCCCCACCTCCCCCACCCCCCCAC CCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCC ACCCCCACCCACCTCCCCCCACCCCCACCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCAC CTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCCCTACCCC CCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCT CCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112723285	T T	TCCCCACC others(363): Show TCCCCACCTCCCCCCACCCCCCCCCACCTCCCCCACCCCCCCACCCCCCA CCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCCCACCCCC ACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCCCCCCACC CCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCAC CCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCCCCACCCC CTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCC CCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACCTCCCCCC ACCCCCCACCTCCCCCCACCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0032	1	5	0.2000	370	c.39+ others(387): Show c.39+32844_39+32845insACCCCCCCCCACCTCCCCCACCCCCCCA CCCCCCACCTCCCCCACCTCCCCCCACCCCCCACCTCCCCCACCTCCCCC CACCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCACCCACCTCC CCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCTC CCCCCACCCCCCACCTCCCCCCACCCCCCACCTCCCCCCACCCCCCACCC CCACCCCCTACCCCCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCC CCCACCCCCCACCTCCCCCCACCCCCACCCCCTACCCCCCACCCCCCACC TCCCCCCACCCCCCACCTCCCCCCACCCCCCCACCTCCCCCC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
AZU1_chr19_822837_837018	835528	A A	AGCCCCCA others(363): Show AGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGC CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	313	0.0032	370	c.36 others(381): Show c.3651_*3652insGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCA GCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCC CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCG	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3511		chr19	TogoVar
BAG3_chr10_119646380_119682819	119675887	T T	TCCTTCCC others(363): Show TCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTTCCTGCCCCCTTCCCCCTT GCCCCTTCCCCTTCCCCCCTTCCTTCCTTCCCCCCTTCCCCCTTCCCTCC TTCCTTCCTGCCCCCTTCCCCCTTCCCCCTTCCCCTTCCCCCCTTCCTTC CTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTC CCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCTCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCCTTCCTTCCTGCCC CCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCCTTCCTTCCCCCCT TCCCCTTTTCCCCCCTTCCCC	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	396	0.0025	370	c.910 others(385): Show c.910-571_910-570insCCCCTTCCCCCTTCCCCCCTTCCTTCCTGC CCCCTTCCCCCTTGCCCCTTCCCCTTCCCCCCTTCCTTCCTTCCCCCCTT CCCCCTTCCCTCCTTCCTTCCTGCCCCCTTCCCCCTTCCCCCTTCCCCTT CCCCCCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTT CCTTCCTTCCTTCCCCCCTTCCCTGCTTCCTTCCCCCTTCCCCCTTCCCT CCTTCCTTCCTGCCCCCTTCCCCCTTGCCCCTTCCCCCTTCCCTCCTTCC TTCCTTCCTGCCCCCTTCCCCCTTGCCCCCTTCTCCCCTTCCTTCCTTCC TTCCTTCCCCCCTTCCCCTTTTCCCCCCTTCCCCCCTTCC	BAG3	ENSG00000151929.10	transcript	ENST00000369085.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(363): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG CAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	4	0.2500	370	c.565 others(389): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTGCCCTC CCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(363): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAAAGGGAGGGGAGGGGAGGGGAGG GGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA20905.hp2 HG02015.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0084 a0001c0001t0001g0085	2	5	0.4000	370	c.565 others(389): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTTTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTC CCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(363): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGAGAGGGGAGGGGAGGGGAGG GGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02572.hp2 HG03453.hp2 HG01884.hp1 HG02572.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042	3	6	0.5000	370	c.565 others(389): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCTCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTC CCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(363): Show GGGAAGGGTAGGGGAGGCGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCGGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(63): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01934.hp1 HG01975.hp2 HG01993.hp2 HG02055.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp1 NA20129.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(56): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0168 a0001c0001t0004g0044 a0001c0001t0004g0045	66	69	0.9565	370	c.565 others(389): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCCGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTC CCCTTCCCCTCCTCTCCTCTTCCCCTCGCCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BCL2L1_chr20_31659458_31727868	31689270	G G	GGGAAGGG others(363): Show GGGAAGGGTAGGGGAGGTGAGGGGAAGAGGAGAGGAGGGGAAGGGGAGGG GAGGGGAAGGGAAGGGTAGGGGAGGGGAAGGGTAGGGGAGGGGAAGGGTA GGGGAGGGGAAGGGAAGGGGAGGGGAGGGGAAGGGAAGGGGAAGGGGACA GGGAGGGGCAGGGAGTGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGG AGGGAAGAGGGAGGGGAGGGGAGGGAAGAGGGAGGGGAGAGGGAGGGGAG GGAAGAGGGAAGGGAGGGGAGGGGAGAGGGAGGGGAGGAGAGGGGAGGGG AGGAGAGGGGAGAGGGAGGGGAGGGGAGAGGGAGGGGAGGGGAGGGGAGG GGAGAGGGAGGGGAGGGGAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01069.hp1 others(11): Show HG00733.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01358.hp2 HG02738.hp2 HG03130.hp1 HG03710.hp1 NA19030.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 others(11): Show a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173	14	17	0.8235	370	c.565 others(389): Show c.565-23185_565-23184insTCTCCCCTCCCCTCCCTCTCCCCTCC CCTCCCCTCCCCTCCCTCTCCCCTCCCCTCCCTCTCCCCTCTCCTCCCCT CCCCTCTCCTCCCCTCCCTCTCCCCTCCCCTCCCTTCCCTCTTCCCTCCC CTCCCTCTCCCCTCCCTCTTCCCTCCCCTCCCCTCCCTCTTCCCTCCCCT CCCCTCCCTCTCCCCTCCCCTCCCTCTCCACTCCCTGCCCCTCCCTGTCC CCTTCCCCTTCCCTTCCCCTCCCCTCCCCTTCCCTTCCCCTCCCCTACCC TTCCCCTCCCCTACCCTTCCCCTCCCCTACCCTTCCCTTCCCCTCCCCTC CCCTTCCCCTCCTCTCCTCTTCCCCTCACCTCCCCTACCCTTCC	BCL2L1	ENSG00000171552.14	transcript	ENST00000307677.5	protein_coding	2/2			chr20	TogoVar
BTBD19_chr1_44803523_44820585	44816624	T T	TTATATAT others(363): Show TTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATGTG TGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACACA TAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATA TATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGT ATATTATATATACACATAGATGTGTGTGTATATTATATATACACATAGAT GTGTGTATATTATATATACACATAGATGTGTGTATATTATATATACACAT AGATGTGTGTATATATTATATATACACATAGATGTGTGTATATATTATAT ATACACATAGATGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	370	c.28 others(381): Show c.2852_*2853insTATATATACACATAGATGTGTGTGTATATTATAT ATACACATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTA TATTATATATACACATAGATGTGTGTGTATATTATATATACACATAGATG TGTGTGTATATTATATATACACATAGATGTGTGTGTATATTATATATACA CATAGATGTGTGTGTATATTATATATACACATAGATGTGTGTGTATATTA TATATACACATAGATGTGTGTATATTATATATACACATAGATGTGTGTAT ATTATATATACACATAGATGTGTGTATATATTATATATACACATAGATGT GTGTATATATTATATATACACATAGATGTGTGTGTA	BTBD19	ENSG00000222009.9	transcript	ENST00000450269.6	protein_coding		1040		chr1	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(363): Show GTCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGTCACTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCC TGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGCCCCTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0106 a0001c0001t0133g0106	1	237	0.0042	370	c.-17 others(381): Show c.-1799_-1798insTCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCA GCAGGGGCGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGTGACGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410763	G G	GTCCTGGG others(363): Show GTCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCT GTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACTGCCCCT GCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGAT CCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGT CCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGC TGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCC TGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCC ACCGTCACTGCTGGGCCCGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0124 a0001c0006t0124	a0001c0006t0124g0066 a0001c0006t0124g0066	1	237	0.0042	370	c.-17 others(381): Show c.-1799_-1798insTCCGGGCCCAGCAGTGACGGTGGACAGACCCCCA GGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCA GCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGG ACAGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGG ATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGGGCCCAGC AGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGCAGTGGAC AGACCCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGAT CCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1617		chr19	TogoVar
C2CD4C_chr19_400445_414147	410820	G G	GTCTCTGC others(363): Show GTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC CCGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGT CTGTCCACCGCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCT CTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0004 a0001c0004t0004g0004	1	318	0.0031	370	c.-18 others(381): Show c.-1856_-1855insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAG ACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCC GGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGAC CCCCAGGATCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1674		chr19	TogoVar
C2CD4C_chr19_400445_414147	411301	G G	GCCCCTGC others(363): Show GCCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGC ACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGCCCCTGCTGGGCACGGATCCTTGGGGTCTGTCCACCGC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCAC GGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGT CTGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCC CTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGG ATCCTTGGGGTCTGTCCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA19091.hp1 HG00558.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0106 a0001c0001t0104 a0001c0001t0106	a0001c0001t0104g0084 a0001c0001t0106g0087 a0001c0001t0104g0084 a0001c0001t0106g0087	2	278	0.0072	370	c.-23 others(381): Show c.-2337_-2336insTGGTGGACAGACCCCAAGGATCCGGGCCCAGCAG AGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAG ACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCC GTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGG GCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGACAGAC CCCAAGGATCCGTGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGG GCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGC GGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2155		chr19	TogoVar
C2CD4C_chr19_400445_414147	411304	T T	TCTGCTGG others(363): Show TCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGCCCCTACTGGGCACG GATCCTGGGGATCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTC TGTCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCC TACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCACGGA TCCTGGGGGTCTGTCCACCGCCCCTGCTGGGCCCGGATCCTGGGGGTCTG TCCACCGCCCCTACTGGGCACGGATCCTGGGGGTCTGTCCACCGCCCCTG CTGGGCACGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCTGGATC CTTGGGGTCTGTCCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA19088.hp2 HG00609.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0005 a0001c0001t0001g0001 a0001c0001t0006g0005	2	109	0.0183	370	c.-23 others(381): Show c.-2340_-2339insGGGTGGTGGACAGACCCCAAGGATCCAGGCCCAG CAGAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGGGGCGGTGGA CAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGCGGTGGACAGACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACA GACCCCCAGGATCCGTGCCCAGTAGGGGCGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGGGGCGGTGGACAGATCCCCAGGATCCGTGCCCAGTAGG GGCGGTGGACAGACCCCCAGGATCCGGGCCCAGCAG	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		2158		chr19	TogoVar
C2orf80_chr2_208160347_208195030	208176908	T T	TACATATC others(363): Show TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATAC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	336	0.0030	370	c.366 others(387): Show c.366+3836_366+3837insGTATGTATACAGATATGTATACGTATGT ATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACAC CTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGT ATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGT ATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTAT ACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGAT ATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTAT ACGTATGTATACACCTATGTATACGTATGTATACAGATATGT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
C7orf50_chr7_992006_1143247	1031657	G G	GCAGAGAC others(363): Show GCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCA GGGAGGGCAGAGTGGTCCGGGGGACCAGAGACCTGCAGGGAGGGCAGAGT GGTCCGGGGCGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGC AGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGG GAGGGCAGAGTGGTCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGG TCCGGGGGGGCAGAGACCTGCAGGGAGGGCAGAGTGGTCCGGGGGGGCAG AGACCTGCAGGGAGGGCAGAGTGGTCCGGGGCGGCAGAGACCTGCAGGGA GGGCAGAGTGGTCCGGGGGAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA18522.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0245 a0001c0001t0014g0160 a0001c0001t0003g0245 a0001c0001t0014g0160	2	249	0.0080	370	c.130 others(389): Show c.130-21515_130-21514insGTCCCCCGGACCACTCTGCCCTCCCT GCAGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCC CCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACT CTGCCCTCCCTGCAGGTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGC AGGTCTCTGCCGCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGC CCCGGACCACTCTGCCCTCCCTGCAGGTCTCTGCCGCCCCGGACCACTCT GCCCTCCCTGCAGGTCTCTGGTCCCCCGGACCACTCTGCCCTCCCTGCAG GTCTCTGCCCCCCCGGACCACTCTGCCCTCCCTGCAGGTCTCTG	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
CACNA1B_chr9_137872782_138129619	138018008	T T	TCAGGTGC others(363): Show TCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTA GGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCT GATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCC AGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGG CCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGA TGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAG GTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCC ACCTGCCCTGATGGAAGTGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0053 a0004c0053	a0004c0053t0022 a0004c0053t0022	a0004c0053t0022g0010 a0004c0053t0022g0010	1	131	0.0076	370	c.226 others(389): Show c.2268-3775_2268-3406dupCAGTTAGGCCACCTGCCCTGATGGAA GTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCA GTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTG CCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGT GGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGT TAGGCCACCTGCCCTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCC CTGATGGAAGTGGCCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGG CCAGGTGCAGTTAGGCCACCTGCCCTGATGGAAGTGGCCAGGTG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding	18/46		INFO_REALIGN_3_PRIME	chr9	TogoVar
CBLB_chr3_105650461_105874012	105663074	C C	CTGAGACC others(363): Show CTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGAGACCTTCAC CATGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATCACAGTTACT GCCGTTACTACTTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCT GAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGAGACCTTCACCA TGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATCACAGTTACTGC CGTTACTACTTGAGACCTTCACTATCACAGTTACTGCTGTTACTACCTGA GACCTTCACCATGACAGTTACTGCTGTTACTACTTGAGACCTTCACTATC ACAGTTACTGCCGTTACTACT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02080.hp2 NA18951.hp2 others(7): Show HG00280.hp2 HG02080.hp2 NA18951.hp2 NA18967.hp2 NA18975.hp2 NA18983.hp2 NA18994.hp1 NA19004.hp1 NA19062.hp1 NA19066.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0283 a0001c0002t0008g0284 a0001c0002t0008g0285 others(7): Show a0001c0002t0008g0283 a0001c0002t0008g0284 a0001c0002t0008g0285 a0001c0002t0008g0290 a0001c0002t0008g0291 a0001c0002t0008g0292 a0001c0002t0008g0293 a0001c0002t0008g0294 a0001c0002t0008g0295 a0001c0002t0008g0296	10	370	0.0270	370	c.269 others(389): Show c.2690-3846_2690-3845insAGTAGTAACGGCAGTAACTGTGATAG TGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTGAAGGTCTCAGG TAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCAAGTAGTAACGGCAGT AACTGTGATAGTGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTG AAGGTCTCAGGTAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCAGGTA GTAACAGCAGTAACTGTGATAGTGAAGGTCTCAAGTAGTAACGGCAGTAA CTGTGATAGTGAAGGTCTCAAGTAGTAACAGCAGTAACTGTCATGGTGAA GGTCTCAGGTAGTAACAGCAGTAACTGTGATAGTGAAGGTCTCA	CBLB	ENSG00000114423.23	transcript	ENST00000394030.8	protein_coding	18/18			chr3	TogoVar
CCDC77_chr12_396644_447642	419606	A A	AAAATACA others(363): Show AAAATACACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG02723.hp2 others(1): Show HG01106.hp2 HG01884.hp2 HG02723.hp2 HG02886.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0336 others(1): Show a0003c0003t0001g0243 a0003c0003t0001g0244 a0003c0003t0001g0336 a0003c0003t0001g0337	4	426	0.0094	370	c.413 others(385): Show c.413+973_413+974insTACACACATAGCAGCACACTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	419606	A A	AAAATACA others(363): Show AAAATACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTG TGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCC ATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT AAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTG TGTGTGTGCTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCAT GTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA ACACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 NA18906.hp2 HG01891.hp1 HG02145.hp2 NA18906.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0006 a0003c0003 a0006c0006	a0003c0003t0007 a0006c0006t0011 a0003c0003t0007 a0006c0006t0011	a0003c0003t0007g0320 a0006c0006t0011g0103 a0006c0006t0011g0106 a0003c0003t0007g0320 a0006c0006t0011g0103 a0006c0006t0011g0106	3	425	0.0071	370	c.413 others(385): Show c.413+973_413+974insTACACACATAGCAGCACCCTCCATGCTCCA TTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACA CATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAACACACA TAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGCTCCATTACA GTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421304	T T	TAAAATAC others(363): Show TAAAATACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCA TGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTA AAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGT GTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGC TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0322 a0003c0003t0004g0322	1	424	0.0024	370	c.413 others(387): Show c.413+2671_413+2672insATACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATTAC AGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421453	T T	TAAAATAC others(363): Show TAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCAT GCTCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02723.hp1 HG02896.hp1 others(3): Show HG01346.hp2 HG02723.hp1 HG02896.hp1 HG03041.hp1 HG03516.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0001c0001t0001 a0002c0002t0001 a0003c0003t0001	a0001c0001t0001g0238 a0002c0002t0001g0378 a0003c0003t0001g0094 others(3): Show a0001c0001t0001g0238 a0002c0002t0001g0378 a0003c0003t0001g0094 a0003c0003t0001g0309 a0003c0003t0001g0404 a0003c0003t0001g0406	6	413	0.0145	370	c.413 others(387): Show c.413+2820_413+2821insATACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421453	T T	TAAAATAC others(363): Show TAAAATACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGT GTGTGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCAT GCTCCATTACAGTGCACTTCTGTGTGTGTTTGCTGGGAGTGAGAGGGTAA AACACACATAGCAGCACCCTCCATGCTCCATTACAGTGCTCTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGT TCCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA TACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0277 a0003c0003t0001g0277	1	408	0.0025	370	c.413 others(387): Show c.413+2820_413+2821insATACACATAGCAGCACCCTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACA CATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTTTG CTGGGAGTGAGAGGGTAAAACACACATAGCAGCACCCTCCATGCTCCATT ACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACA TAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTAC AGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421529	A A	ACACACAT others(363): Show ACACACATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGT GTGTGCTGGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTC CATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATA CACACATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACACTCCATGTTCC ATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACA CATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTG CTGGGAGTGAGAGGGTAAAAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(18): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00639.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01943.hp1 HG01993.hp1 HG02698.hp2 HG02735.hp2 HG03490.hp2 HG03688.hp1 HG03831.hp2 NA18946.hp1 NA19012.hp2 NA19067.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0132 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0299 a0001c0001t0001g0342 a0001c0001t0001g0355 a0003c0003t0001g0024 a0003c0003t0001g0063	21	383	0.0548	370	c.413 others(387): Show c.413+2893_413+2894insCACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATACAC ATAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACACATAGCAGCACCCTCCATGCTCCAT TACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACACA TAGCAGCACACTCCATGTTCCATTACAGTGCGCTTCTGTGTGTGTGTGCT GGGAGTGAGAGGGTAAATACACATAGCAGCACACTCCATGTTCCATTACA GTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12			chr12	TogoVar
CCDC88C_chr14_91266323_91422820	91293553	C C	CCCTCACC others(363): Show CCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACGGCCCACC TTCCTGCCCCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCC ACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCTGCCACAGCCCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCCCACCTTCCTGCCCCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0096 a0003c0003t0002g0096	1	263	0.0038	370	c.411 others(387): Show c.4112+619_4112+620insATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAG GTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGT GAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGGCAGGAAGGTGGGC CGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(363): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCACCTGCCAC AGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATC CTCACCTGCCACAGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01433.hp2 HG01934.hp1 HG01071.hp1 HG01433.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0182 a0001c0001t0001g0190 a0001c0001t0001g0128 a0001c0001t0001g0182 a0001c0001t0001g0190	3	108	0.0278	370	c.411 others(387): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGA AGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAG GTGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(363): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCCACC TTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAG CCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC TGCCACAGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0151 a0002c0002t0019g0151	1	106	0.0094	370	c.411 others(387): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGCAGGTGAGG ATGGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCTGTGGC AGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGGGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCDC88C_chr14_91266323_91422820	91293567	G G	GGCCCACC others(363): Show GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACC TTCCCATCCTCACCTGCCACAGCCCACCTTCCTGTCCCCTCACCTGCCAC GGCCCACCTTCCTGCCCCCTCACCTGCCACAGCTCACCTTCCCATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACC TTCCCATCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0082 a0001c0004t0001g0082	1	106	0.0094	370	c.411 others(387): Show c.4112+605_4112+606insTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGCCGTGGCAG GTGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGC TGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT GGGAAGGTGAGCTGTGGCAGGTGAGGGGGCAGGAAGGTGGGC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CCR9_chr3_45881543_45908174	45890256	G G	GAAATATA others(363): Show GAAATATATATATATATTTATATAAATATATATATAACATATATATATAT TTATATAAATATATATATAACATATATATATATTTATATAAATATATATA TAACATATATATATATTTATATAAATATATATATAACATATATATTTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATATTTATATAAATATATATATAACATATATATATTTATATAAA TATATATATAACATATATATATTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATAT	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA19087.hp1 NA18941.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	2	235	0.0085	370	c.-29 others(387): Show c.-29+3614_-29+3615insTATTTATATAAATATATATATAACATAT ATATATATTTATATAAATATATATATAACATATATATATATTTATATAAA TATATATATAACATATATATATATTTATATAAATATATATATAACATATA TATTTTATATAAATATATATATAACATATATATATTTATATAAATATATA TATAACATATATATATATTTATATAAATATATATATAACATATATATATT TATATAAATATATATATAACATATATATATTTATATAAATATATATATAA CATATATATATTTATATAAATATATATATAACATATATATATTTATATAA ATATATATATAACATATATATATTTATATAAATATATATATA	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CD247_chr1_167425640_167523529	167434947	C C	CTCCTCCA others(363): Show CTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCT TCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC TCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTT CCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTC CTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTC CTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCC TCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCT CCGGAGCCCTCCTCCAGCCCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19054.hp1 NA18971.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0274 a0001c0001t0001g0183 a0001c0001t0001g0274	2	178	0.0112	370	c.336 others(385): Show c.336+451_336+452insAGGGCTGGAGGAGGGCTCCGGAGGAAGGGC TGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCT GGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCC GGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTG GAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGG AGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGG AGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGA GGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGA	CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7			chr1	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACG CATACACACACATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	301	0.0033	370	c.27 others(381): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACAT ATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACA CACATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	301	0.0033	370	c.27 others(381): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTGT GTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355852	C C	CACATATA others(363): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGCATACACACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG02074.hp1 HG00673.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0007 a0002c0002t0002g0018 a0002c0002t0002g0007 a0002c0002t0002g0018	2	302	0.0066	370	c.27 others(381): Show c.2752_*2753insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGCATACACACATAT	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		692		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(363): Show TATATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTA TATACACACGTGTGTATATACGTATATACACACGTGTGTATATACGTATA TACACACGTGTGTATATACGTATATACACACGTGTGTATATACGCATACA CACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACG CATACACACATATATGTGTGTGTATACGCATACACACACATATATGTGTG TGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACATA TGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACA CATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	29	0.0345	370	c.27 others(381): Show c.2768_*2769insATATACACACGTGTGTATATACGTATATACACAC GTGTGTATATACGTATATACACACGTGTGTATATACGTATATACACACGT GTGTATATACGTATATACACACGTGTGTATATACGTATATACACACGTGT GTATATACGCATACACACATATATGTGTGTGTATACGCATACACACATAT ATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACAC ACACATATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATAC GCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGTGT GTATACGCATACACACATATATGTGTGTGTATACGC	CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding		708		chr11	TogoVar
CDC42EP5_chr19_54460026_54478296	54472914	C C	CCCCCAGC others(363): Show CCCCCAGCCCCTCCTCCCTCAGACTCATGAGTCCAGACCCCCAGCCCCTC CTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCCATCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC CCCAGCCCCTCCTCCCTCAGACCCAGGAATCCAGGCCCCATCCCCTCCTC CCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGG GGTCCAGACCCCCAGCCCCTTCTTCCTCAGACCCAGGAGTCAAGACCCCC CAGCCCCTCCTCCCTCAGACCCAGGAGTCAAGACCCCCCAGCCCCTCCTC CCTCAGACCCAGGAGTCAAGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	407	0.0025	370	c.-14 others(387): Show c.-142+149_-142+150insTCTTGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGGTCTTGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGGTC TTGACTCCTGGGTCTGAGGAAGAAGGGGCTGGGGGTCTGGACCCCTGAGT CTGAGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGG GGATGGGGCCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGG ACTCCTGGGTCTGAGGGAGGAGGGGATGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGGGGC TGGGGGTCTGGACTCATGAGTCTGAGGGAGGAGGGGCTGGGG	CDC42EP5	ENSG00000167617.3	transcript	ENST00000301200.3	protein_coding	1/2			chr19	TogoVar
CDH4_chr20_61247261_61945617	61944146	A A	ATGAGGAG others(363): Show ATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0087 a0002c0002t0003g0087	1	84	0.0119	370	c.72 others(381): Show c.7203_*7204insTGAGGAGCACTGCGACTGTATGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3530		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944146	A A	ATGAGGAG others(363): Show ATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACCGACG ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACC ACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACG ACGAGGAGCACTGCGACCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01106.hp2 HG01433.hp2 others(5): Show HG00408.hp2 HG01106.hp2 HG01433.hp2 HG01496.hp1 HG04115.hp1 HG04204.hp1 NA18906.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 others(4): Show a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0019 a0002c0002t0020 a0002c0005t0004 a0002c0005t0016	a0002c0002t0003g0076 a0002c0002t0004g0082 a0002c0002t0004g0096 others(5): Show a0002c0002t0003g0076 a0002c0002t0004g0082 a0002c0002t0004g0096 a0002c0002t0011g0074 a0002c0002t0019g0105 a0002c0002t0020g0102 a0002c0005t0004g0048 a0002c0005t0016g0056	8	91	0.0879	370	c.72 others(381): Show c.7203_*7204insTGAGGAGCACTGCGACTGTATGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGC CCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		3530		chr20	TogoVar
CIP2A_chr3_108544864_108594438	108575520	A A	ATATATAC others(363): Show ATATATACACGTATATATACTCATATACATGTGTGTATATACACGTATAT ATACTCATATACATGTGTGTATATACACGTATATATACTCATATACATGT GTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGTAT ATATACTCATATACATGTGTGTATATACACGTATATATACTCATATACAT GTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACACGT ATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATAC GTGTGTATATACACGTATATATACTCATATACGTGTGTATATACACGTAT ATATACTCATATACATGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02132.hp2 HG02056.hp1 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0278 a0001c0001t0009g0253 a0001c0001t0002g0278 a0001c0001t0009g0253	2	354	0.0056	370	c.894 others(385): Show c.894+750_894+751insCACACATGTATATGAGTATATATACGTGTA TATACACACGTATATGAGTATATATACGTGTATATACACACGTATATGAG TATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATA TACACACATGTATATGAGTATATATACGTGTATATACACACATGTATATG AGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTGTA TATACACACATGTATATGAGTATATATACGTGTATATACACACATGTATA TGAGTATATATACGTGTATATACACACATGTATATGAGTATATATACGTG TATATACACACATGTATATGAGTATATATACGTGTATATA	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575563	T T	TATATATA others(363): Show TATATATACTCATATACATGTGTGTATATACACGTATATATACTCATATA CATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATACA CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0261 a0001c0001t0006g0261	1	204	0.0049	370	c.894 others(385): Show c.894+707_894+708insGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACGTATATGAGTATATATACGTGTATATACACAC ATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATAT ATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACAC ACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTAT ATATACGTGTATATACACACATGTATATGAGTATATATACGTGTATATAC ACACATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGT ATATATACGTGTATATACACACATGTATATGAGTATATAT	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
CIP2A_chr3_108544864_108594438	108575597	T T	CGTATATA others(363): Show CGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCATA TACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACACGTATATATACTCATATACATGTGTGTATA TACACGTATATATACTCATATACATGTGTGTATATACACGTATATATACT CATATACGTGTGTATATACACGTATATATACTCATATACGTGTGTATATA CACGTATATATACTCATATACATGTGTGTATATACACGTATATATACTCA TATACATGTGTGTATATACGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	240	0.0042	370	c.894 others(385): Show c.894+674_894+675insCGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CGTATATGAGTATATATACGTGTATATACACACGTATATGAGTATATATA CGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACACA TGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATATA TACGTGTATATACACACATGTATATGAGTATATATACGTGTATATACACA CATGTATATGAGTATATATACGTGTATATACACACATGTATATGAGTATA TATACGTGTATATACACACATGTATATGAGTATATATACG	CIP2A	ENSG00000163507.15	transcript	ENST00000295746.13	protein_coding	8/20			chr3	TogoVar
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(363): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGA GGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGG AAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0167 a0002c0004t0004g0167	1	97	0.0103	370	c.923 others(389): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCCCC CTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCATCCCTCCATT CCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTTCATTCC TCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCCTCCCTCCC	DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9			chr6	TogoVar
DDX10_chr11_108660069_108945927	108737354	T T	TTATTTCT others(363): Show TTATTTCTTTTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	318	0.0031	370	c.196 others(391): Show c.1965+13910_1965+13911insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTATTTCTTTTATTCTTTT	DDX10	ENSG00000178105.12	transcript	ENST00000322536.8	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr11	TogoVar

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