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
BRSK2_chr11_1384934_1467689	1441844	C C	CCTCAAGT others(285): Show CCTCAAGTGCACCGTCCCCCCATTAGCTACCCCTCAAGTGCACCATCCCC CTCATTAGCTACCCCTCAGGTGCATCATCCCCTCCTCATTAGCTGCCCCT CAAGTGCACCATCCCCCCCATTAGCTGCCCCTCAAGTGCACTGTCCCCCC ATAGTGGCCCCTCAGGTGCACCGTCCCCCCCATTAGCTACTCCTCAAGTG CACCATCCCCTCCCCCCCATTAGCTACCCCTCAAGTGCACCGTCCACCCC ATTAGCTACCCCTCAAGTGCACCGTCCACCCCATTAGCTACCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03225.hp2 HG03453.hp2 HG02647.hp1 HG03225.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0043 a0002c0002t0002 a0001c0001t0001 a0001c0001t0043 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0043g0054 a0002c0002t0002g0019 a0001c0001t0001g0052 a0001c0001t0043g0054 a0002c0002t0002g0019	3	357	0.0084	292	c.414 others(307): Show c.414-537_414-536insATCCCCCCCATTAGCTGCCCCTCAAGTGCA CTGTCCCCCCATAGTGGCCCCTCAGGTGCACCGTCCCCCCCATTAGCTAC TCCTCAAGTGCACCATCCCCTCCCCCCCATTAGCTACCCCTCAAGTGCAC CGTCCACCCCATTAGCTACCCCTCAAGTGCACCGTCCACCCCATTAGCTA CCTCTCAAGTGCACCGTCCCCCCATTAGCTACCCCTCAAGTGCACCATCC CCCTCATTAGCTACCCCTCAGGTGCATCATCCCCTCCTCATTAGCTGCCC CTCAAGTGCACC	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(285): Show CCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	170	0.0059	292	c.431 others(309): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCCCC others(285): Show CCCTCCCCTCCTCCCCTCCCCTCCTCTCCCCTCCTCCCCTCCCCTCCTCT CCTCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCTC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTTCTCCCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	170	0.0059	292	c.431 others(309): Show c.4311+766_4311+767insTCCCCTCCTCCCCTCCCCTCCTCTCCCC TCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCTCCCCT CCCCTCCCCTCCCCTCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCC TCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCCCTTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C4orf50_chr4_5954375_6023431	6004473	A A	ATGATGTG others(285): Show ATGATGTGGTGGTGATGGTGATGCTGATGATGGTGATGATGGTGATGGTG ATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGAT GATATTGATGGTGATGATATTGATGGTGATGATGGTGATGGTGATGATGT GATGGTGATGATGGTGATGATGGTGATAGTTATGATGGTGATGGTGATGA TGTTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGG TGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATAGT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	60	0.0167	292	c.963 others(309): Show c.963+3522_963+3523insACTATCATCACCATCACCATCATCACCA TCATCACTATCATCACCATCACATCATCACCATCACCATCATCACCATCA TCACCATCATCAACATCATCACCATCACCATCATAACTATCACCATCATC ACCATCATCACCATCACATCATCACCATCACCATCATCACCATCAATATC ATCACCATCAATATCATCACCATCACCATCATCACCATCACCATCATCAC CATCATCACTATCATCACCATCACCATCATCACCATCATCAGCATCACCA TCACCACCACATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1I_chr22_39565753_39694735	39601970	A A	ACCCCTCC others(285): Show ACCCCTCCCTCCTTCCTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTTCC TTCCTTCCTCCTCCCTCCCTCCCTTCCTCCTTCCTTCCTTCCCTTCCTTC CTTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTCCTCTCCCTCCCTCCCTTCCTTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTC CTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0198 a0001c0002t0004g0198	1	137	0.0073	292	c.482 others(309): Show c.482+1320_482+1321insCTCCCTCCTTCCTCCTTCCTTCCTTCCT TCCTTCCTTCCTCCTTCCTTCCTTCCTCCTCCCTCCCTCCCTTCCTCCTT CCTTCCTTCCCTTCCTTCCTTCCCTCCCTCCTCCCTCCCTCCCTCCCTCC CTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTCCTCTCCCTCC CTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCC TCCCTCCCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTC CCTCTCTCCCTCCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(285): Show CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT TCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0005 a0001c0030t0005	a0001c0030t0005g0127 a0001c0030t0005g0127	1	22	0.0455	292	c.482 others(309): Show c.482+1368_482+1369insCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(285): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT TCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01496.hp1 HG01071.hp2 HG01496.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0002 a0006c0015t0002 a0001c0001t0002 a0006c0015t0002	a0001c0001t0002g0163 a0006c0015t0002g0189 a0001c0001t0002g0163 a0006c0015t0002g0189	2	23	0.0870	292	c.482 others(309): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(285): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTC CCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCTTCTC TCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0220 a0001c0002t0017g0220	1	22	0.0455	292	c.482 others(309): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTCCT TCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTC CCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCC TCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNA1I_chr22_39565753_39694735	39602018	C C	CTCCCTCC others(285): Show CTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCT TCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCTTCCTTCCT TCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTCTCCCTCCCTCCCTCCCTT CCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0045 a0001c0002t0045	a0001c0002t0045g0195 a0001c0002t0045g0195	1	22	0.0455	292	c.482 others(309): Show c.482+1368_482+1369insCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT TCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCCTCCCTC CCTCCCTCCTTCCTTCCTTCTCTCTCTTTCTTTCGCCCGCCCTCCCTCTC TCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCT CCCTCCTTCCTTCC	CACNA1I	ENSG00000100346.18	transcript	ENST00000402142.4	protein_coding	3/36		INFO_REALIGN_3_PRIME	chr22	TogoVar
CACNG6_chr19_53986637_54017666	53990546	T T	TCCCTCAG others(285): Show TCCCTCAGACCCAGGAGTCCAGGCCCCAGCACCTCCTCCCTCAGACCCAG GAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCC AGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCACCTCCTCCC TCAGACCCAGGAGTCCAGACCCCCAGCCCTCCTCCCTCAGACCCAGGAGC CCAGGCCCCAGCCCCTCCTCCTCAGACCCAGGAGCCCAGGCCCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0256	1	428	0.0023	292	c.-23 others(303): Show c.-2332_-2331insCCCTCAGACCCAGGAGTCCAGGCCCCAGCACCTC CTCCCTCAGACCCAGGAGCCCAGGCCCCCAGCCCCTCCTCCCTCAGACCC AGGAGTCCAGGCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCC CCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCTCCTCC CTCAGACCCAGGAGCCCAGGCCCCAGCCCCTCCTCCTCAGACCCAGGAGC CCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGC CCCTCCTC	CACNG6	ENSG00000130433.8	transcript	ENST00000252729.7	protein_coding		1090		chr19	TogoVar
CADM1_chr11_115164236_115509415	115328703	T T	TATATATA others(285): Show TATATATATATGTGTATATATATGTATATACATATATATGTGTATATATA TGTATATACATATATATGTGTATATATATGTATATACATATATATGTGTA TATATATGTATATACATATATATATGTGTATATATATGTATATACATATA TATATGTGTATATATATGTATATACATATATATGTGTATATATATGTATA TACATATATATATGTGTATATATATGTATATACATATATATATGTGTATA TATATGTATATACATATATATATGTGTATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02300.hp1 HG01099.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0050 a0001c0001t0049 a0001c0001t0050	a0001c0001t0049g0104 a0001c0001t0050g0158 a0001c0001t0049g0104 a0001c0001t0050g0158	2	50	0.0400	292	c.125 others(311): Show c.125-88284_125-88283insGTATATACATATATATACACATATAT ATATGTATATACATATATATACACATATATATATGTATATACATATATAT ACACATATATATATGTATATACATATATATACACATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT ATGTATATACATATATATACACATATATATGTATATACATATATATACAC ATATATATGTATATACATATATATACACATATATATGTATATACATATAT ATACACATATATATAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CADM1_chr11_115164236_115509415	115328705	T T	TATACATA others(285): Show TATACATATATATGTGTATATATATGTATATACATATATATGTGTATATA TATGTATATACATATATATGTGTATATATATGTATATACATATATATGTG TATATATATGTATATACATATATATGTGTATATATATGTATATACATATA TATATGTGTATATATATGTATATACATATATATGTGTATATATATGTATA TACATATATATGTGTATATATATGTATATACATATATATATGTGTATATA TATGTATATACATATATATATGTGTATATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0064 a0001c0001t0037g0064	1	152	0.0066	292	c.125 others(311): Show c.125-88286_125-88285insGTGTATATACATATATATACACATAT ATATATGTATATACATATATATACACATATATATATGTATATACATATAT ATACACATATATATGTATATACATATATATACACATATATATGTATATAC ATATATATACACATATATATATGTATATACATATATATACACATATATAT GTATATACATATATATACACATATATATGTATATACATATATATACACAT ATATATGTATATACATATATATACACATATATATGTATATACATATATAT ACACATATATATGTAT	CADM1	ENSG00000182985.19	transcript	ENST00000331581.11	protein_coding	1/11			chr11	TogoVar
CARMIL1_chr6_25274374_25625530	25459210	T T	TTTTCTTT others(285): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	124	0.0081	292	c.615 others(309): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC110_chr4_185440182_185476733	185471314	G G	GGGGGCAG others(285): Show GGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAGGCTGGGGCGGGGCAG AGGGATGGGGCGGGGCAGGGCTGAAGGCTGGGGCGGGGCGGAGGGAATTA GGAGGGGGCGGGGCTGAAGGCTGGGGCGGGGGGGCGGGGAGGGCCGGGAG GGCGGGGAGGGCGGGGCGGAGGGAATTAGGAGGGGGCGGGTTTGAAGGCT GGGGCGGGGCGCAGGGATGGGATGGGGCGGAGAGACTGGGCGGGACCTGT GGGGGCAGAGGAATGGGGCGGGGTCAAGGCTGAAGGCTGGGGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	2	426	0.0047	292	c.11- others(305): Show c.11-266_11-265insGCCCCAGCCTTCAGCCTTGACCCCGCCCCATT CCTCTGCCCCCACAGGTCCCGCCCAGTCTCTCCGCCCCATCCCATCCCTG CGCCCCGCCCCAGCCTTCAAACCCGCCCCCTCCTAATTCCCTCCGCCCCG CCCTCCCCGCCCTCCCGGCCCTCCCCGCCCCCCCGCCCCAGCCTTCAGCC CCGCCCCCTCCTAATTCCCTCCGCCCCGCCCCAGCCTTCAGCCCTGCCCC GCCCCATCCCTCTGCCCCGCCCCAGCCTTCAGCCTTGACCCCGCCCCATT CCTCTGCCCC	CCDC110	ENSG00000168491.10	transcript	ENST00000307588.8	protein_coding	1/6			chr4	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(285): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTC CCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	18	0.0556	292	c.-22 others(303): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGG	CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding		2039		chr17	TogoVar
CCDC77_chr12_396644_447642	421306	A A	AACACACA others(285): Show AACACACATAGCAGCACCCTCCATGTTCCATTACAGTGCACTTCTGTGTG TGTGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCT CCATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAAT ACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGT GTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCC ATTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0412 a0003c0003t0007g0412	1	408	0.0025	292	c.413 others(309): Show c.413+2671_413+2672insCACACATAGCAGCACCCTCCATGTTCCA TTACAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAACACAC ATAGCAGCACCCTCCATGCTCCATTACAGTGCACTTCTGTGTGTGTGTGC TGGGAGTGAGAGGGTAAAATACACATAGCAGCACACTCCATGTTCCATTA CAGTGCACTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATACACAT AGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTGTGTGCTG GGAGTGAGAGGGTA	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCN4_chr8_133186039_133236690	133214063	A A	ACTATATA others(285): Show ACTATATATACTACTATATATAGTATATACTATATATACACTATATATAG TAGTTATATATACTACTATATATACTACTATATATAGTATATACTATATA TACACTATATATACACTATATATAGCATATATACTATATATACACTATAT ATAGTAGTTATATATACTATATATACACTATACATACACTATATATAGTT TATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGT AGTTATATATACTATATATACTATATATAGTTTATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00735.hp1 others(2): Show HG00140.hp2 HG00280.hp1 HG00735.hp1 HG02109.hp1 HG04228.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0016 a0002c0004t0004 a0001c0001t0001 a0001c0001t0016 a0002c0004t0004	a0001c0001t0001g0036 a0001c0001t0001g0221 a0001c0001t0016g0061 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0221 a0001c0001t0016g0061 a0002c0004t0004g0089 a0002c0004t0004g0222	5	389	0.0129	292	c.349 others(307): Show c.349+920_349+921insCTATATATACTACTATATATAGTATATACT ATATATACACTATATATAGTAGTTATATATACTACTATATATACTACTAT ATATAGTATATACTATATATACACTATATATACACTATATATAGCATATA TACTATATATACACTATATATAGTAGTTATATATACTATATATACACTAT ACATACACTATATATAGTTTATATATACTATATATAGTAGTTATATATAC TATATATACTATATATAGTAGTTATATATACTATATATACTATATATAGT TTATATATATAC	CCN4	ENSG00000104415.14	transcript	ENST00000250160.11	protein_coding	2/4			chr8	TogoVar
CCSER2_chr10_84323589_84523517	84501838	T T	TATATATA others(285): Show TATATATATATATATATATATATATATATACACTCATATATATATATATA CTCATATATATATATATATACTCATATATATATATATATACTCATATATA TATATACTCATATATATATATATACTCATATATATATATACTCATATATA TATATATACTCATATATATATATACTCATATATATATACTCATATATATA TATATACTCATATATATATATATACTCATATATATATACTCATATATATA TATATATATATATACTCATATATATATATATATATATATACTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0123 a0002c0002t0003g0123	1	290	0.0034	292	c.232 others(313): Show c.2326-11590_2326-11589insTATATATACACTCATATATATATA TATACTCATATATATATATATATACTCATATATATATATATATACTCATA TATATATATACTCATATATATATATATACTCATATATATATATACTCATA TATATATATATACTCATATATATATATACTCATATATATATACTCATATA TATATATATACTCATATATATATATATACTCATATATATATACTCATATA TATATATATATATATATACTCATATATATATATATATATATATACTCATA TATATATATATATATATA	CCSER2	ENSG00000107771.17	transcript	ENST00000372088.8	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CD300A_chr17_74461634_74489794	74482697	C C	CCTTCCTT others(285): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0225 a0002c0003t0001g0225	1	189	0.0053	292	c.774 others(307): Show c.774+867_774+868insCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTT	CD300A	ENSG00000167851.15	transcript	ENST00000360141.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
CDON_chr11_125951821_126067866	126065033	T T	TATAGTAT others(285): Show TATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGA TAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATA GTATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTGATAGT ATTAAGAGGTGATAGTATTAAGAGGTGATAGTATTAAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0019 a0019	a0019c0058 a0019c0058	a0019c0058t0105 a0019c0058t0105	a0019c0058t0105g0324 a0019c0058t0105g0324	1	66	0.0152	292	c.-25 others(303): Show c.-2517_-2516insCACCTCTTAATACTATCACCTCTTAATACTATCA CCTCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACC TCTTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATAAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTC TTAATACTATCACCTCTTAATACTATCACCTCTTAATACTATCACCTCTT AATACTAT	CDON	ENSG00000064309.16	transcript	ENST00000531738.6	protein_coding		2168		chr11	TogoVar
CENPJ_chr13_24877279_24927861	24881896	C C	CTATATAG others(285): Show CTATATAGATATATAATCTATATAGATATATAATCTATATAGATATATAG ATACATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0250 a0001c0004t0001g0250	1	428	0.0023	292	c.12 others(303): Show c.1280_*1281insTAGATGTATCTATATATAGATGTATCTATATATA GATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGA TGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATG TATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTA TCTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCTATA TAGATGTATCTATATATCTATATAGATTATATATCTATATAGATTATATA TCTATATA	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		382		chr13	TogoVar
CERS6_chr2_168451272_168780134	168724576	T T	TAGTTAGA others(285): Show TAGTTAGATACAGAGTATCCACACAAAGGTTCTCCAAGGCCCCACCAGAG TAGCCAGATACAGAGTGTCGACTGGTGCACTCACAAACCCTGAGCTAGAC ACAGGGTGCTGATTGGTGTGTTTACAAACCTTGAGCTAGATACAGAGTGC CGATTGGTGTATTTACAGACCCTGAGCTAGACATAAAGGTTCTCCAAGGC CCCACCAGAGTAGCTAGATACAAAGTGTCGATTGGTGCATTCACAAACCC TGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCTTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0070 a0001c0002t0008g0070	1	174	0.0057	292	c.845 others(309): Show c.845+6600_845+6601insTTAGATACAGAGTATCCACACAAAGGTT CTCCAAGGCCCCACCAGAGTAGCCAGATACAGAGTGTCGACTGGTGCACT CACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGTTTACAAACCT TGAGCTAGATACAGAGTGCCGATTGGTGTATTTACAGACCCTGAGCTAGA CATAAAGGTTCTCCAAGGCCCCACCAGAGTAGCTAGATACAAAGTGTCGA TTGGTGCATTCACAAACCCTGAGCTAGACACAGGGTGCTGATTGGTGTGT TTACAAACCTTGAG	CERS6	ENSG00000172292.15	transcript	ENST00000305747.11	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP61_chr20_20047532_20365698	20296130	C C	CCTTCCCT others(285): Show CCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCTTCCCTCCCTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTT CCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCTTTCTTCCTTCCTTTGCTT CCTTGCTTCCTTCTTTCCTTTCTTCATCCCTCCCTCCCTCCTTCCTTCCT TTCCTTCCTTCCCTCTATCCTTCCTTCCTTCCTTTCTTTCTCCCTCCCTT CCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCCATCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02258.hp1 others(9): Show HG01891.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG03139.hp1 HG03139.hp2 NA19043.hp2	a0001 a0007 a0009 others(3): Show a0001 a0007 a0009 a0018 a0019 a0023	a0001c0001 a0001c0023 a0001c0039 others(5): Show a0001c0001 a0001c0023 a0001c0039 a0007c0010 a0009c0014 a0018c0042 a0019c0038 a0023c0029	a0001c0001t0003 a0001c0023t0003 a0001c0039t0003 others(6): Show a0001c0001t0003 a0001c0023t0003 a0001c0039t0003 a0007c0010t0003 a0009c0014t0006 a0009c0014t0007 a0018c0042t0003 a0019c0038t0001 a0023c0029t0003	a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0090 others(9): Show a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0023t0003g0054 a0001c0039t0003g0125 a0007c0010t0003g0131 a0009c0014t0006g0007 a0009c0014t0007g0006 a0018c0042t0003g0128 a0019c0038t0001g0113 a0023c0029t0003g0132	12	13	0.9231	292	c.321 others(311): Show c.3217-2046_3217-2045insCTTCCTTCCTTCTCTCCTTCCTTCCT TCCCTCCCTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTCCTTCCT TCTCTCCTTCCTTCCCTTCCTTCCTTCTCTCCTTCCTTCCCTTGCTTCCT TTCTTCCTTCCTTTGCTTCCTTGCTTCCTTCTTTCCTTTCTTCATCCCTC CCTCCCTCCTTCCTTCCTTTCCTTCCTTCCCTCTATCCTTCCTTCCTTCC TTTCTTTCTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCTTTTCCTTCC ATCTTTCCTTTCTTCC	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	24/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63354210	T T	TGGGGGGC others(285): Show TGGGGGGCTGTGGTCCTAAATGGGGCTGTGGTCCTGGGGGGCTGTGGTCC TGGGGTGCTGTGGTCCTAGGGGGCTGTGGTCCTGGGGGGGAGCTGCTGTC CTAGGGGTGTTGTAGTCCTAGGGGGCTGTGGTCAGGCAAGAACTGTGATC CTTGTGGGGGCTGCAGTTCTGCAGGAGGCACTGTAGCCCTAGGGTGGGAT GAAGTCCTGGGAGGACTGTGGTCCTGGCAGGGAATGTGGTCCTGGGGGCC TGTGGTCCTAGGGGGCTGTGGTCCTAGAGGAACTGTGGTCCTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0040 a0001c0003t0024g0040	1	58	0.0172	292	c.383 others(309): Show c.383+1764_383+1765insCAGGACCACAGTTCCTCTAGGACCACAG CCCCCTAGGACCACAGGCCCCCAGGACCACATTCCCTGCCAGGACCACAG TCCTCCCAGGACTTCATCCCACCCTAGGGCTACAGTGCCTCCTGCAGAAC TGCAGCCCCCACAAGGATCACAGTTCTTGCCTGACCACAGCCCCCTAGGA CTACAACACCCCTAGGACAGCAGCTCCCCCCCAGGACCACAGCCCCCTAG GACCACAGCACCCCAGGACCACAGCCCCCCAGGACCACAGCCCCATTTAG GACCACAGCCCCCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding	4/5			chr20	TogoVar
CLDN7_chr17_7254903_7267478	7264570	C C	CGTGAGTC others(285): Show CGTGAGTCACTGCTCCCAGCCATGAACTGTTTGTTATTCGTTTTTATTGT TGTACTTTTGGATTAATGGTATGTTGCACAAATTCCTTCCATTTTTACTG ATTTCTTCTTCTCCAAGTCCACGGGCATCCTATACCTCAAACCCCAGCAT TTCTGGGTTTGATTTGCTATATGGGAGAGTATCTCTGTGTCTTTTGTCCA CGTTATTATTTGTTATGAAAAATTATGAGCATGTTCCCTAAGACTAGGTT TTCTAGCATGGTTCCTTATGGCCAGGGCTGTGTGACTCTCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(199): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03225.hp2 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19054.hp2 NA19058.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0003t0002 a0002c0002t0001 a0002c0002t0002 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(14): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0003g0004 a0001c0001t0003g0014 a0001c0001t0006g0018 a0001c0001t0007g0019 a0001c0001t0009g0031 a0001c0001t0010g0036 a0001c0003t0002g0003 a0002c0002t0001g0032 a0002c0002t0002g0002 a0004c0004t0001g0017	202	416	0.4856	292	c.-25 others(303): Show c.-2528_-2527insTCTGAGAGTCACACAGCCCTGGCCATAAGGAACC ATGCTAGAAAACCTAGTCTTAGGGAACATGCTCATAATTTTTCATAACAA ATAATAACGTGGACAAAAGACACAGAGATACTCTCCCATATAGCAAATCA AACCCAGAAATGCTGGGGTTTGAGGTATAGGATGCCCGTGGACTTGGAGA AGAAGAAATCAGTAAAAATGGAAGGAATTTGTGCAACATACCATTAATCC AAAAGTACAACAATAAAAACGAATAACAAACAGTTCATGGCTGGGAGCAG TGACTCAC	CLDN7	ENSG00000181885.18	transcript	ENST00000360325.11	protein_coding		2093		chr17	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GAGGAAGG others(285): Show GAGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGG AAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAA GGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAG GCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAA GGGAAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGCAGGAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0001 a0001c0032t0001	a0001c0032t0001g0083 a0001c0032t0001g0083	1	171	0.0058	292	c.85- others(309): Show c.85-12970_85-12969insTTCCTGCCTGCCTGCCCCCTCCCTTCCT GCCTTCCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTG CCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCC CTTCCTGCCTTCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355841	G G	GTGGGGGA others(285): Show GTGGGGGAGGGCTGCACTAGCTCACCTGTGTGGGGGGAGGGCTGTACCAG CTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGG GGGAGGGCTGCAGTAGCTCACCTGTGTGGGGGGGGGAGGGCTGCAGTAGC TCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTCACCTGTGTGAGTGGG GAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCACTAGCTC ACCTGTGTGTGGGGGTGGAGGGCTGTACAGCTCACCTGTGTGA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0294 a0002c0006t0001g0294	1	295	0.0034	292	c.100 others(309): Show c.100-1631_100-1630insTGGGGGAGGGCTGCACTAGCTCACCTGT GTGGGGGGAGGGCTGTACCAGCTCACCTGTGTGTGTGGGGGAGGGCTGCA CTAGCTCACCTGTGTGAGTGGGGGAGGGCTGCAGTAGCTCACCTGTGTGG GGGGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGTGGGGGAGGGCTGCAC TAGCTCACCTGTGTGAGTGGGGAGGGCTGCAGTAGCTCACCTGTGTGTGT GGGGGAGGGCTGCACTAGCTCACCTGTGTGTGGGGGTGGAGGGCTGTACA GCTCACCTGTGTGA	COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227202860	T T	TGTGTATA others(285): Show TGTGTATATATGTGTATATATACATATATGTGTATATATACGTATATATA CATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTA TATATACATATATGTGTATATATACGTATATATACATATATGTGTATATA TACGTATATATACATATATGTGTATATATACGTATATATACATATATGTG TATATATACATATATGTGTATATATGTGTATATATACATATATGTGTATA TATACACATATATGTGTATATATACATATATGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18612.hp2 NA18955.hp1 others(1): Show HG02056.hp2 NA18612.hp2 NA18955.hp1 NA19057.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0001c0001t0017 a0007c0006t0005 a0001c0001t0001 a0001c0001t0017 a0007c0006t0005	a0001c0001t0001g0126 a0001c0001t0017g0132 a0007c0006t0005g0133 others(1): Show a0001c0001t0001g0126 a0001c0001t0017g0132 a0007c0006t0005g0133 a0007c0006t0005g0134	4	326	0.0123	292	c.88- others(309): Show c.88-35108_88-35107insGTGTATATATGTGTATATATACATATAT GTGTATATATACGTATATATACATATATGTGTATATATACGTATATATAC ATATATGTGTATATATACGTATATATACATATATGTGTATATATACGTAT ATATACATATATGTGTATATATACGTATATATACATATATGTGTATATAT ACGTATATATACATATATGTGTATATATACATATATGTGTATATATGTGT ATATATACATATATGTGTATATATACACATATATGTGTATATATACATAT ATGTGTATATATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203424	T T	TGTGTGTA others(285): Show TGTGTGTATATGTGTATATACACATACATGTGTGTATATGTGTATATACA CATACACATACATGTGTGTATATGTGTATATACACATACACATACATGTG TGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATATA CACATACACATACATGTGTGTATATGTGTATATACACATACACATACATG TGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTATA TACACATACACATATATGTGTGTATATGTGTATATACACATAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0007 a0005c0005t0007	a0005c0005t0007g0163 a0005c0005t0007g0163	1	313	0.0032	292	c.88- others(309): Show c.88-34544_88-34543insGTGTGTATATGTGTATATACACATACAT GTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGTAT ATACACATACACATACATGTGTGTATATGTGTATATACACATACACATAC ATGTGTGTATATGTGTATATACACATACACATACATGTGTGTATATGTGT ATATACACATACACATACATGTGTGTATATGTGTATATACACATACACAT ACATGTGTGTATATGTGTATATACACATACACATATATGTGTGTATATGT GTATATACACATAC	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51			chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587785	C C	CCGTGTTA others(285): Show CCGTGTTACCCACAGATACATGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGG CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACAC GGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0330 a0001c0002t0002g0330	1	268	0.0037	292	c.927 others(307): Show c.927+688_927+689insTACCCACAGATACATGGCCCCCCGTGTCAC CCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCAC CCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTC ACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTG TCACCCGCGTGT	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924603	C C	CCCCCACA others(285): Show CCCCCACACTGACCCGGCCCCCCACACTAACCCAGTCCCCACACTAACCC AGTCCCCACACTAACCCGGCCCCCACACTAATCCGGCCCCCACACTAACC CGGCCCCTCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCACACTG ACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCACAC TGACCCAGCCCCCACACTAACCCAGCCCCCACACTAACCCAGCCCCCACA CTGACCCAGCCCCCACACTAACCCGGCCCCCACACTAACCCAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0190 a0007c0007t0001g0190	1	338	0.0030	292	c.489 others(309): Show c.489-1117_489-1116insACACTGACCCGGCCCCCCACACTAACCC AGTCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAATC CGGCCCCCACACTAACCCGGCCCCTCACACTAACCCGGCCCCCCACACTA ACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCCCCACAC TAACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCAGCCCCCACA CTAACCCAGCCCCCACACTGACCCAGCCCCCACACTAACCCGGCCCCCAC ACTAACCCAGCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CSNKA2IP_chr3_88333456_88472594	88428992	T T	TAAAATTT others(285): Show TAAAATTTTAGCAAATTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGC AGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0245 a0004c0005t0001g0245	1	273	0.0037	292	c.-27 others(313): Show c.-270-36081_-270-36080insTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG TGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAATTTTAGCAAAT	CSNKA2IP	ENSG00000283434.2	transcript	ENST00000637986.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
CTNNA3_chr10_65907523_67701195	66552643	T T	TGTATTTT others(285): Show TGTATTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCAT GATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0025 a0001c0003t0014g0025	1	46	0.0217	292	c.137 others(313): Show c.1375-31871_1375-31870insGACCTGTAATCCCAGCACTTTGGG AGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCT AACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCG CGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGA ATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCAC TGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAATAC	CTNNA3	ENSG00000183230.18	transcript	ENST00000433211.7	protein_coding	10/17			chr10	TogoVar
CUEDC1_chr17_57856243_57960412	57958394	T T	TTTTTTTT others(285): Show TTTTTTTTTTTTTTTTTAAGACAGAGTCTCGCTCTTGTTGTACAGCTTGG AGTACAGTGGCGCGATCTCGGCTCACGGCAACCTCTGCCTCCCAGGTTCA AGCGATTCTTCCAACTCAGCCTCCCGAGTAGCTAGAACTACAGGTGCACG CCACCATGCCCAGCTAATTTTTTTATTTTTAGTAGAAATGAGGTTTTACC ATGTTGGCCAGGCTGGTCTCAAACTCCCGACCTCCGCCCGCCATGGCCTA CCAAAGTGCTGGAATTACAGGCATGAGCCACCGCACCCGGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0066 a0001c0001t0009g0066	1	202	0.0050	292	c.-34 others(303): Show c.-3486_-3485insTAGCCGGGTGCGGTGGCTCATGCCTGTAATTCCA GCACTTTGGTAGGCCATGGCGGGCGGAGGTCGGGAGTTTGAGACCAGCCT GGCCAACATGGTAAAACCTCATTTCTACTAAAAATAAAAAAATTAGCTGG GCATGGTGGCGTGCACCTGTAGTTCTAGCTACTCGGGAGGCTGAGTTGGA AGAATCGCTTGAACCTGGGAGGCAGAGGTTGCCGTGAGCCGAGATCGCGC CACTGTACTCCAAGCTGTACAACAAGAGCGAGACTCTGTCTTAAAAAAAA AAAAAAAA	CUEDC1	ENSG00000180891.13	transcript	ENST00000577830.6	protein_coding		2983		chr17	TogoVar
DECR2_chr16_396885_417482	397669	T T	TGTGGGGG others(285): Show TGTGGGGGGGGTGAGGAGTCGGGGGGTGGGGTGGGGGTGTGGGGGGGTGA GGGAAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGTGAGGGAGTCGGGGG GTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	361	0.0028	292	c.-42 others(303): Show c.-4295_-4294insGTGGGGGGGGTGAGGAGTCGGGGGGTGGGGTGGG GGTGTGGGGGGGTGAGGGAAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGG TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGG GGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4215		chr16	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(285): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATACATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATGCATATATTAT ATGCATATAATATATGCATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG02976.hp1 HG02630.hp1 HG02965.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0129 a0001c0001t0023g0130 a0001c0001t0023g0131 a0001c0001t0003g0129 a0001c0001t0023g0130 a0001c0001t0023g0131	3	6	0.5000	292	c.126 others(309): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGC ATATATTATATGCATATAATATATGCATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGTATATAAT ATATATGTATATCATATAATATATAATATATAATTATATATTATATATCA TAATATGTAATATATAATTATATATTACATATATATATTTTAATATATAT AATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(285): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp1 HG02647.hp2 others(5): Show HG02280.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02965.hp1 HG03486.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(3): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0051	a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0008g0144 others(5): Show a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0008g0144 a0001c0001t0009g0252 a0001c0001t0018g0067 a0001c0001t0018g0068 a0001c0001t0019g0066 a0001c0001t0051g0263	8	11	0.7273	292	c.126 others(309): Show c.126+1125_126+1126insGTATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATATGTATATCATATAATATATAATATATAATTATATATTATATATCA TAATATGTAATATATAATTATATATTACATATATATATTTTAATATATAT AATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197713905	A A	AATATATT others(285): Show AATATATTATATATTATATATATTAAAATATATATATGTAATATATAATT ATATATTACATATTATGATATATAATATATAATTATATATTATATATTAT ATGATATACATATATATTATATGCATATAATATATACATATATTATATGC ATATAATATATACATATATTATATGCATATAATATATACATATATTATAT GCATATAATATATACATATATTATATGCATATAATATATACATATATTAT ATGCATATAATATATACATATATTATATGCATATAATATATGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0145 a0001c0001t0008g0145	1	4	0.2500	292	c.126 others(309): Show c.126+1125_126+1126insACATATATTATATGCATATAATATATGT ATATATTATATGCATATAATATATGTATATATTATATGCATATAATATAT GTATATATTATATGCATATAATATATGTATATATTATATGCATATAATAT ATGTATATATTATATGCATATAATATATGTATATATTATATGCATATAAT ATATATGTATATCATATAATATATAATATATAATTATATATTATATATCA TAATATGTAATATATAATTATATATTACATATATATATTTTAATATATAT AATATATAATATAT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	3/22			chr1	TogoVar
DIP2B_chr12_50499985_50753657	50593783	C C	CCCTCCCC others(285): Show CCCTCCCCTCCCCTCCCCCCTCCCCTCTCCTCTCCTCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTC CCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	281	0.0036	292	c.101 others(311): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCTC CTCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCC TCCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	478268	G G	GGAGGGGA others(285): Show GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGG GGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGG GAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGAGAAGGGAGGG GAGGGGAGGAGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGAAGAAGGGAGGGGAGGGGGAGAAGGGAGGGGAGGGGAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0013 a0001c0009t0001g0013	1	59	0.0169	292	c.158 others(309): Show c.158-5720_158-5719insTTCTCCCCTCCCCTCCCTTCTCCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCTTCTC CCCTCTCCTCCCCTCCCCTCCCTTCTCCTCCCTTCTCCTCCCCTCCCCTC CCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCCC TCCCCTCCCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCT TCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCC CCTCCCCTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DNLZ_chr9_136354483_136368744	136355150	G G	GGGTGACA others(285): Show GGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACA CGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGG GGGAGGGGTAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGG TAGCCGGGTGCCGAGGGTGGGTGACACGTCCTGGGGGAGGGGTAGCCGGG TGCCGAGGGTGGTGACACGTCCTGGGGTAGGGGTAGCCGGGTGCCGAGGG TGGGTGACACGTCCTGGGGGAGGGGTAGCCGGGTGCCGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	292	c.68 others(303): Show c.6861_*6862insACCCTCGGCACCCGGCTACCCCTCCCCCAGGACG TGTCACCCACCCTCGGCACCCGGCTACCCCTACCCCAGGACGTGTCACCA CCCTCGGCACCCGGCTACCCCTCCCCCAGGACGTGTCACCCACCCTCGGC ACCCGGCTACCCCTCCCCCAGGACGTGTCACCCACCCTCGGCACCCGGCT ACCCCTCCCCCAGGACGTGTCACCCACCCTCGGCACCCGGCTACCCCTCC CCCAGGACGTGTCACCCACCCTCGGCACCCGGCTACCCCTCCCCCAGGAC GTGTCACC	DNLZ	ENSG00000213221.5	transcript	ENST00000371738.4	protein_coding		4332		chr9	TogoVar
DPH7_chr9_137549444_137583925	137566724	T T	TCTGTCTG others(285): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTC TGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	2	333	0.0060	292	c.641 others(309): Show c.641-1571_641-1570insTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCCGGGGA GCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTC ACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCAC AGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGC TTCCTCACAGACAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315483	A A	ATCACCAC others(285): Show ATCACCACCATCCCCACACACCCCCTACCACCACCATCACCACCATCCCC ATCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCA CCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCCCATA CACACCCCCTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACC ACCACCATCACCACCATCCCCATCCACAGCCCCACCACCATCC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19010.hp2 NA19005.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0055 a0001c0001t0001g0058 a0001c0001t0002g0055	2	222	0.0090	292	c.259 others(311): Show c.259+22533_259+22534insGGATGGTGGTGGGGCTGTGGATGGGG ATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGG TGGTGGTAGGGGGTGTGTATGGGGATGGTGGTGATGGTGGTGGTAGGGGC TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGAGGATGGTGGTGGGGCTGTGGATGGGGATGGTGGTGATGGTGG TGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGT GTGGGGATGGTGGTGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELP5_chr17_7247215_7264937	7264570	C C	CGTGAGTC others(285): Show CGTGAGTCACTGCTCCCAGCCATGAACTGTTTGTTATTCGTTTTTATTGT TGTACTTTTGGATTAATGGTATGTTGCACAAATTCCTTCCATTTTTACTG ATTTCTTCTTCTCCAAGTCCACGGGCATCCTATACCTCAAACCCCAGCAT TTCTGGGTTTGATTTGCTATATGGGAGAGTATCTCTGTGTCTTTTGTCCA CGTTATTATTTGTTATGAAAAATTATGAGCATGTTCCCTAAGACTAGGTT TTCTAGCATGGTTCCTTATGGCCAGGGCTGTGTGACTCTCAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(193): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18989.hp1 NA18989.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19002.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0003c0003 others(1): Show a0001c0001 a0001c0005 a0003c0003 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0005t0001 a0003c0003t0001 a0005c0008t0013	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(42): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0003g0015 a0001c0001t0003g0076 a0001c0001t0005g0001 a0001c0001t0008g0001 a0001c0001t0010g0001 a0001c0001t0015g0001 a0001c0005t0001g0028 a0003c0003t0001g0001 a0005c0008t0013g0036	196	410	0.4780	292	c.48 others(303): Show c.4885_*4886insGTGAGTCACTGCTCCCAGCCATGAACTGTTTGTT ATTCGTTTTTATTGTTGTACTTTTGGATTAATGGTATGTTGCACAAATTC CTTCCATTTTTACTGATTTCTTCTTCTCCAAGTCCACGGGCATCCTATAC CTCAAACCCCAGCATTTCTGGGTTTGATTTGCTATATGGGAGAGTATCTC TGTGTCTTTTGTCCACGTTATTATTTGTTATGAAAAATTATGAGCATGTT CCCTAAGACTAGGTTTTCTAGCATGGTTCCTTATGGCCAGGGCTGTGTGA CTCTCAGA	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding		4634		chr17	TogoVar
F13B_chr1_197033741_197072260	197042728	G G	GAAGAATC others(285): Show GAAGAATCTCTTGACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCC CAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGG AGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp2 NA19030.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0115 a0001c0001t0001g0137	2	143	0.0140	292	c.173 others(311): Show c.1739-1994_1739-1993insTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTC AGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCT GGGTCAAGAGATTCTT	F13B	ENSG00000143278.5	transcript	ENST00000367412.2	protein_coding	10/11			chr1	TogoVar
FAM240C_chr2_241888988_241905464	241896599	G G	GTTGGGGG others(285): Show GTTGGGGGTGTGGGGGTGTGGGTGTGTGTGTTGGGGTGTGGGTGTTGGGG TGTGGGTGTGGGGGTGTGGGTGAAGGGGGTTTGGGTGTTGGGGTGTGGGT GTTGGGGTGTGGGTGTTGGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGT GTTGGGGTGTGGGTGTGGGGGTGTGGGTGAAGGGGGTGTGGGTGTTGGGG TGTGGGTGTTGGGGTGTGTGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTG TTGGGGTGTGGGTGAAGGGGTGTGGGTGTTGGGGTGTGGGTGA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp2 HG03041.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0001 a0002c0002t0002g0002	2	36	0.0556	292	c.161 others(307): Show c.161+586_161+587insTCACCCACACCCCAACACCCACACCCCTTC ACCCACACCCCAACACCCACACCCCAACACCCACACCCCAACACACACAC CCCAACACCCACACCCCAACACCCACACCCCCTTCACCCACACCCCCACA CCCACACCCCAACACCCACACCCCCACACCCACACCCCCACACCCCAACA CCCACACCCCAACACCCACACCCCAACACCCAAACCCCCTTCACCCACAC CCCCACACCCACACCCCAACACCCACACCCCAACACACACACCCACACCC CCACACCCCCAA	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(285): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTC ACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0288 a0001c0003t0001g0288	1	260	0.0038	292	c.189 others(311): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTC CCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXK2_chr17_82514732_82609602	82586209	A A	AGGGGAAA others(285): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCCGGG GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGA ATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAA AGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0051 a0001c0001t0015g0051	1	248	0.0040	292	c.157 others(307): Show c.1576+40_1576+41insAGTCAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGAAAGGAGGAG AGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGGAAAGGAGGAGA GGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAATGGAGGAGAGG GGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGG GAGACCACAGGGAGGTCAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGG AGACCACAGGGA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586254	C C	CCGGGGGG others(285): Show CCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGC CGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCC GGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAG TGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGG GGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCAGTGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGG	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0052 a0001c0001t0010g0052	1	242	0.0041	292	c.157 others(307): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTG AAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCA AAGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCGGGGGGGAATGGAGGAGAGGGGAGACCACAGGGAAGTCAAAG GTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGG TGGGCGGGGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXK2_chr17_82514732_82609602	82586258	G G	GGGGGAAA others(285): Show GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCAGTGGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCAGGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCAGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	285	0.0035	292	c.157 others(307): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAA AGGTGGGCAGTGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTAGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TAGGCAGGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCAGTGGGG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar

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