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
ATP11A_chr13_112685038_112892168	112761552	G G	GCCCTGGG others(479): Show GCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACA TAGGTTTGGGTACTATCTCGGATTCAGGAGTCCCCTGGGGTCTTGGAAGC ACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTGTCTC GGATTCAGGAGTCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGG ACATCGTGCACATAGGTTTGGGTACTGTCTCGGATTCAGGAGTCCCCTGG GGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTT GGGTACTATCTCGGATTCAGGAATCCCCTGGGGTCTTGGAAGCACCCCTG AGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATCTCGGATTCA GGAGTCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGT GCACATAGGTTTGGGTACTATCTCGGATTCAGGAGTC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0015 a0001c0019t0015	a0001c0019t0015g0147 a0001c0019t0015g0147	1	249	0.0040	486	c.40- others(503): Show c.40-23490_40-23489insGGAAGCACCCCTGAGGATAAAGGGGACA TCGTGCACATAGGTTTGGGTACTGTCTCGGATTCAGGAGTCCCCTGGGGT CTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGG TACTGTCTCGGATTCAGGAGTCCCCTGGGGTCTTGGAAGCACCCCTGAGG ATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATCTCGGATTCAGGA ATCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGGGGACATCGTGCA CATAGGTTTGGGTACTATCTCGGATTCAGGAGTCCCCTGGGGTCTTGGAA GCACCCCTGAGGATAAAGGGGACATCGTGCACATAGGTTTGGGTACTATC TCGGATTCAGGAGTCCCCTGGGGTCTTGGAAGCACCCCTGAGGATAAAGG GGACATCGTGCACATAGGTTTGGGTACTATCTCGGATTCAGGAGTCCCCT GGGGTCTT	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
B3GNTL1_chr17_82937149_83056770	82962653	A A	ACCCTCGC others(479): Show ACCCTCGCACGGGTGATTTAGGGTGGAGGCTCCCGCGGGTGCTGGTGGAC ACGGACCCTCGCACGGGTGATTTAGGGTGGAGGCTCCCGCGGGTGCTGGT GGACACGGACCCTCACACGGGTGATTTAGGGTGGAGGGTCCCGCGGGTGC TGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGGAGGCTCCCGCGG GTGCTGGTGGACACGGACCCTCGCACGGGTGATTTAGGGTGGAGGCTCCC GCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGGAGGG TCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGG AGGGTCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGG GTGGAGGCTCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATT TAGGGTGGAGGTTCCCGTGGGTGCTGGTGGACACAGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0010 a0003c0024t0010	a0003c0024t0010g0152 a0003c0024t0010g0152	1	237	0.0042	486	c.556 others(503): Show c.556-1473_556-1472insACTGTGTCCACCAGCACCCACGGGAACC TCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACCAGCACCCGCGGG AGCCTCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACCAGCACCCG CGGGACCCTCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACCAGCA CCCGCGGGACCCTCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACC AGCACCCGCGGGAGCCTCCACCCTAAATCACCCGTGCGAGGGTCCGTGTC CACCAGCACCCGCGGGAGCCTCCACCCTAAATCACCCGTGTGAGGGTCCG TGTCCACCAGCACCCGCGGGACCCTCCACCCTAAATCACCCGTGTGAGGG TCCGTGTCCACCAGCACCCGCGGGAGCCTCCACCCTAAATCACCCGTGCG AGGGTCCGTGTCCACCAGCACCCGCGGGAGCCTCCACCCTAAATCACCCG TGCGAGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82962653	A A	ACCCTCGC others(479): Show ACCCTCGCACGGGTGATTTAGGGTGGAGGCTCCCGCGGGTGCTGGTGGAC ACGGACCCTCGCACGGGTGATTTAGGGTGGAGGCTCCCGCGGGTGCTGGT GGACACGGACCCTCGCACGGGTGATTTAGGGTGGAGGGTCCCGCGGGTGC TGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGGAGGCTCCCGCGG GTGCTGGTGGACACGGACCCTCGCACGGGTGATTTAGGGTGGAGGCTCCC GCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGGAGGG TCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGGGTGG AGGGTCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATTTAGG GTGGAGGCTCCCGCGGGTGCTGGTGGACACGGACCCTCACACGGGTGATT TAGGGTGGAGGTTCCCGTGGGTGCTGGTGGACACAGT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02809.hp2 HG02976.hp2 HG01074.hp1 HG02809.hp2 HG02976.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0021 a0003c0025 a0001c0001 a0003c0021 a0003c0025	a0001c0001t0001 a0003c0021t0035 a0003c0025t0011 a0001c0001t0001 a0003c0021t0035 a0003c0025t0011	a0001c0001t0001g0052 a0003c0021t0035g0186 a0003c0025t0011g0055 a0001c0001t0001g0052 a0003c0021t0035g0186 a0003c0025t0011g0055	3	239	0.0126	486	c.556 others(503): Show c.556-1473_556-1472insACTGTGTCCACCAGCACCCACGGGAACC TCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACCAGCACCCGCGGG AGCCTCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACCAGCACCCG CGGGACCCTCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACCAGCA CCCGCGGGACCCTCCACCCTAAATCACCCGTGTGAGGGTCCGTGTCCACC AGCACCCGCGGGAGCCTCCACCCTAAATCACCCGTGCGAGGGTCCGTGTC CACCAGCACCCGCGGGAGCCTCCACCCTAAATCACCCGTGTGAGGGTCCG TGTCCACCAGCACCCGCGGGACCCTCCACCCTAAATCACCCGTGCGAGGG TCCGTGTCCACCAGCACCCGCGGGAGCCTCCACCCTAAATCACCCGTGCG AGGGTCCGTGTCCACCAGCACCCGCGGGAGCCTCCACCCTAAATCACCCG TGCGAGGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	7/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374859	G G	GGGAGGGA others(479): Show GGGAGGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAG GGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA AGGGAGGGAGGGAGGAGGGAGGGAGGGGAGGGAGGGAGGGAGGAGGGAGG GAGGGAGGAGGAAGGGAGGGAGGAGGAGGAGGGAGGGAGGGAGGAGGAGG AAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGAGAGGGGGAGGGAGGAGGAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0012 a0012	a0012c0040 a0012c0040	a0012c0040t0001 a0012c0040t0001	a0012c0040t0001g0007 a0012c0040t0001g0007	1	182	0.0055	486	c.784 others(501): Show c.784-593_784-592insAAGGGAGGGAGGGAGGAGGAAGGGAGGGAG GAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGGAGG AGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGGGAGGGAGGGAGGG AGGAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAGGAGGGAGGGAGG GAGGAGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGAA GGGAGGGAGGAGGAAGGGAGGGAGGAGAGGGGGAGGGAGGAGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGAGGAGGA GGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
C17orf67_chr17_56786913_56838920	56792819	G G	GTGATGGT others(479): Show GTGATGGTGGTGGTGGTGATAGTAGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGA TGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTG ATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGATGATGGTGGTGAT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGG TGATGGTGATGATGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGATG GTGGTGGTGATGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAG TGGTGGTGGTGATGGTGATGATGGTGGTGATGGTAGTGGTGATGGTGATG ATGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03516.hp1 HG01099.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0036	2	230	0.0087	486	c.21 others(501): Show c.21-468_*21-467insTCACCACCATCACCACCATCATCACCATCA CCACCATCATCACCATCACCACTACCATCACCACCATCATCACCATCACC ACCACCACTACCATCACCACCATCATCACCATCACCACCACCACCATCAC CACCATCATCACCATCACCACCATCATCACCACCACCATCACCACCATCA CCACCACCATCACCACCATCATCACCATCACCACCACCATCACCATCATC ACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCAC CATCACCATCACCACCATCATCACCATCACCACCATCATCACCATCACCA CCACCATCACCACCATCACCACCACCATCACCACCATCACCATCACCACC ACCACCATCACCACCATCATCACCATCACCACCACCATCACCACCACCAT CACCACCACCACCACCACCATCACCACCACCACTACTATCACCACCACCA CCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
C2CD4C_chr19_400445_414147	411005	G G	GTCACTGC others(479): Show GTCACTGCTGGGCCCGGATCCTGGGGATCTGTCCACCGTCACTGCTGGGC CCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGG GTCTGTCCACCGTCTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGT CCCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTCACTGCTGGGCA CGGATCCTGGGGGTCTGTCCACCGTCCCCTGCTGGGCACGGATCCTGGGG GTCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT CTCTGCTGGGCCCGGATCCTGGGGGTCTGTCCACCGTCTCTGCTGGGCCC GGATCCTGGGGGTCTGTCCACCGTCCCCTGCTGGGCACGGATCCTGGGGG TCTGTCCACCGTCACTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGTC CCCTGCTGGGCACGGATCCTGGGGGTCTGTCCACCGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0093 a0001c0001t0093	a0001c0001t0093g0149 a0001c0001t0093g0149	1	317	0.0032	486	c.-20 others(497): Show c.-2041_-2040insACGGTGGACAGACCCCCAGGATCCGTGCCCAGCA GGGGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGAC AGACCCCCAGGATCCGTGCCCAGCAGGGGACGGTGGACAGACCCCCAGGA TCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCA GAGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAGTGACGGTGGACA GACCCCCAGGATCCGTGCCCAGCAGGGGACGGTGGACAGACCCCCAGGAT CCGTGCCCAGCAGTGACGGTGGACAGACCCCCAGGATCCGTGCCCAGCAG GGGACGGTGGACAGACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACA GACCCCCAGGATCCGGGCCCAGCAGAGACGGTGGACAGACCCCCAGGATC CGGGCCCAGCAGTGACGGTGGACAGATCCCCAGGATCCGGGCCCAGCAGT GA	C2CD4C	ENSG00000183186.8	transcript	ENST00000332235.8	protein_coding		1859		chr19	TogoVar
CACNA1B_chr9_137872782_138129619	138127006	C C	CCCCCGGC others(479): Show CCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGG GCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCG TGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGG CCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAG GGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCG GCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTG CAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCA AGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGA CACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03516.hp2 HG02809.hp1 HG03516.hp2	a0002 a0002	a0002c0001 a0002c0010 a0002c0001 a0002c0010	a0002c0001t0005 a0002c0010t0005 a0002c0001t0005 a0002c0010t0005	a0002c0001t0005g0231 a0002c0010t0005g0243 a0002c0001t0005g0231 a0002c0010t0005g0243	2	236	0.0085	486	c.50 others(497): Show c.5007_*5008insCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGAC ACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGC AAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCA GCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCC CCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGC CCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCCATGACACCGTG AGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGGGGCGCAAGGCC ATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCCGGCCGCCAGCAGGG GGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAGTGCCCCGGCC GCCAGCAGGGGGCGCAAGGCCATGACACCGTGAGCAAGAGGGCCCTGCAG TG	CACNA1B	ENSG00000148408.14	transcript	ENST00000371372.6	protein_coding		2388		chr9	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(479): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACACACTCACATACAGACACAACCACACCACAC ACACACATACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACACTCACATACAGACA CAACCACACCACACACACACACTCACATACAGACACAACCACACCACACT CACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	253	0.0040	486	c.193 others(503): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACACACACACTCACATAC AGACACAACCACACCACACTCACACACACACACACTCACATACAGACACA ACCACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44182119	A A	ACTCACAC others(479): Show ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACTCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACACTCACATACAGACACAACCACACCACACAC ACACATACACACTCACATACAGACACAACCACACCACACTCACACACACA CACTCACATACAGACACAACCACACCACACTCACACACACACACTCACAT ACAGACACAACCACACCACACTCACACACACACACTCACATACAGACACA ACCACACCACACACACACACTCACATACAGACACAACCACACCACACTCA CACACACACACACACTCACATACAGACACAACCACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp2 HG01496.hp1 others(6): Show HG01109.hp1 HG01168.hp2 HG01496.hp1 HG01928.hp1 HG02258.hp2 HG02486.hp1 HG03516.hp2 NA18522.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0046 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0046 a0001c0001t0007g0003 a0001c0001t0007g0004	9	261	0.0345	486	c.193 others(503): Show c.1938+800_1938+801insTCACACACACACACTCACATACAGACAC AACCACACCACACTCACACACACACACACTCACATACAGACACAACCACA CCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACTCACACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACACACTCACATACA GACACAACCACACCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACACTCACATACAGACACAACCACACCACAC TCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACACTCACATACAGACACAACCACACCACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACACACACTCACATACAGACACA ACCACACC	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CDC42SE2_chr5_131259053_131399672	131278725	C C	CCCCCCTC others(479): Show CCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTC CCCTCCCCCCTCCCCTCCCCCTCCCTTCCCCTCCTCT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	237	0.0042	486	c.-45 others(507): Show c.-455+14563_-455+14564insCTCCCCTCCCCTCCCCCTCCCCTC CCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCC CCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCC CTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCTTCC CCTCCTCTCCCC	CDC42SE2	ENSG00000158985.14	transcript	ENST00000505065.2	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
CDH8_chr16_61642250_62041438	61960376	C C	CATATATG others(479): Show CATATATGTGTGTGTGTGCACATACATATATACATATATGTGTGTGTGTG CACATACATATATACATATATGTGTGTATGTGTGCACATACATATATACA TATATGTGTGTATGTGTGCACATACATATATACATGTATGTGTGTATGTG TGCACATACGGTATATACATATATGTGTGTATGTGTGCACATACGGTATA TACATATATGTGTGTATGTGTGCACATACGGTATATACATATATGTGTGT ATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTGCACATACG GTATATACATATATGTGTGTATGTGTGCACATACGGTATATACATATATG TGTGTATGTGTGCACATACGGTATATACATATATGTGTGTATGTGTACAC ATACGGTATATACATATATGTGTGTATGTGTACACATACGGTATATACAT ATATGTGTGTATGTGTACACATACGGTATATACATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0084 a0001c0001t0011g0084	1	139	0.0072	486	c.253 others(505): Show c.253-58904_253-58903insATATGTATATACCGTATGTGTACACA TACACACATATATGTATATACCGTATGTGTACACATACACACATATATGT ATATACCGTATGTGTACACATACACACATATATGTATATACCGTATGTGC ACACATACACACATATATGTATATACCGTATGTGCACACATACACACATA TATGTATATACCGTATGTGCACACATACACACATATATGTATATACCGTA TGTGCACACATACACACATATATGTATATACCGTATGTGCACACATACAC ACATATATGTATATACCGTATGTGCACACATACACACATATATGTATATA CCGTATGTGCACACATACACACATACATGTATATATGTATGTGCACACAT ACACACATATATGTATATATGTATGTGCACACATACACACATATATGTAT ATATGTATGTGCACACACACACATATATGTATATATGTATGTGCACACAC ACACATATAT	CDH8	ENSG00000150394.14	transcript	ENST00000577390.6	protein_coding	2/11			chr16	TogoVar
CENPJ_chr13_24877279_24927861	24881881	G G	GATATATA others(479): Show GATATATAGATGCATCTATATAGATATATAGATGCATCTATATAGATATA TAGATGCATCTATATAGATATATAGATGCATCTATATAGATATATAATCT ATATAGATGATATATAGATACATCTATATAGATATATAGATACATCTATA TAGATATATAGATACATCTATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	424	0.0024	486	c.12 others(497): Show c.1295_*1296insAGATGTATCTATATATAGATGTATCTATATATAG ATGTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGAT GTATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGT ATCTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTAT CTATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCT ATATATAGATGTATCTATATATAGATGTATCTATATATAGATGTATCTAT ATATAGATGTATCTATATATAGATGTATCTATATAGATGTATCTATATAT CTATATAGATGTATCTATATATCTATATAGATGTATCTATATATCATCTA TATAGATTATATATCTATATAGATGCATCTATATATCTATATAGATGCAT CTATATATCTATATAGATGCATCTATATATCTATATAGATGCATCTATAT AT	CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding		397		chr13	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(479): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTC CTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCC CTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTC CCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	486	c.69 others(497): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTT CTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCC TTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTC CCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCC CCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCC TCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTC TTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(479): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCT TCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTT CCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCC TCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCC TTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCC CCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0006 a0002c0001t0002g0006	1	8	0.1250	486	c.69 others(497): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTT CCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCC TCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCC CTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTC TTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CFAP157_chr9_127701988_127721002	127720831	T T	TTCCCCCT others(479): Show TTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCGTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCC CTCCTCCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCT CCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTC CCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCC TCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0002 a0002c0001t0002g0002	1	8	0.1250	486	c.69 others(497): Show c.6926_*6927insTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCGTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTC TTCCTCCCTCCCTCCTCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCT TCCTCCCTCCCCCCTTCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCC CTCCTCCCTTCCCCCTTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCC CTTCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCT CTTCTTCCTCCCTCCCTCCTCCCCTTCCCCCTTCCCCCCTCCTCCCTTCC CCCTTCCCCCCTCCTCCCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTC CCCCTTCCTCCCTTCCCCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTC TTCCTCCTTCCTCCCTCCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTT TC	CFAP157	ENSG00000160401.15	transcript	ENST00000373295.7	protein_coding		4830		chr9	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(479): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02559.hp2 others(7): Show HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02717.hp2 HG02897.hp1 HG02970.hp1 HG03139.hp2 HG03516.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0001 a0001c0001t0002 a0001c0001t0026	a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0295 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0295 a0001c0001t0002g0075 a0001c0001t0026g0106	10	101	0.0990	486	c.80- others(501): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(479): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATA TTTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATATTTATTTTAATATATTAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	92	0.0109	486	c.80- others(501): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTAATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTA TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATATTTATTTTAATATATTAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(479): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAA ATATTTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAAT ATTTATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	92	0.0109	486	c.80- others(501): Show c.80-4988_80-4987insAATATTTATTTTAATATATAAAATAAATAT TTATTTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATTAAAATAAATATTT ATTTTATATATAAAATAAATATTTATTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CHODL_chr21_18239833_18272370	18251498	A A	ATATTTAT others(479): Show ATATTTATTTTAATATATAAAATAAATATTTATTTTATATATAAAATAAA TATTTATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATA TTTATTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATAT TTATTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATT TATTTTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTAT TTTAATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTA TTTTATTTATTTATTTTAATATATAAAATATTTTATT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	92	0.0109	486	c.80- others(501): Show c.80-4988_80-4987insAATATTTATTTTATATATAAAATAAATATT TATTTTAATATTAAAATAAATATTTATTTTATATATTAAATAAATATTTA TTTTATATATTAAAATAAATATTTATTTTATATATAAAATAAATATTTAT TTAATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATT TTAATATATAAAATATTTATTTTAATATATAAAATAAATATTTATTTTAA TATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATAAAATAAATATTTATTTTA ATATATAAAATAAATATTTATTTTAATATATTAAAATAAATATTTATTTT ATTTATTTATTTTAATATATAAAATATTTTATTTATTTATTTTAATATAT AAAATA	CHODL	ENSG00000154645.14	transcript	ENST00000299295.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr21	TogoVar
CLPTM1L_chr5_1312752_1350099	1333222	C C	CGGATAAG others(479): Show CGGATAAGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACT ACTGTATACACACCAGATGAGGATAAGGGGGGACTACTGTATACACACCG GATGAGGATAAGGGGGGGACTACTGTAGATACACGGGATGAGGATAAGGG GGGACTACTGTATACACACCGGATGAGGATAAGGGGGACTACTGTATACA CACGGGATGAGGATGAGGGACTATTGTATACACACCAGATGAGGATAAGG GGGGACTACTGTAGACACACCGGATGAGGATAAGGGGGGACTACTGTATA CACACCAGATGAGAATAAGGGGGGACTACTGTATACACACCAGATGAGGA TAAGGGGGGACTACTGTATACACACCGGATGAGGATAAGGGGGGACTACT GTATACACATTGGATGAGGATAAGGGGGGACTATTGTATACACACCAGAT GAGTATAAGGGGGGACTACTGTATACACACCAGATGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03453.hp1 HG03579.hp1 HG02486.hp2 HG03453.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0201 a0001c0001t0001g0035 a0001c0001t0001g0201	3	278	0.0108	486	c.891 others(503): Show c.891+1066_891+1067insTCATCTGGTGTGTATACAGTAGTCCCCC CTTATACTCATCTGGTGTGTATACAATAGTCCCCCCTTATCCTCATCCAA TGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGT CCCCCCTTATCCTCATCTGGTGTGTATACAGTAGTCCCCCCTTATTCTCA TCTGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTCTACA GTAGTCCCCCCTTATCCTCATCTGGTGTGTATACAATAGTCCCTCATCCT CATCCCGTGTGTATACAGTAGTCCCCCTTATCCTCATCCGGTGTGTATAC AGTAGTCCCCCCTTATCCTCATCCCGTGTATCTACAGTAGTCCCCCCCTT ATCCTCATCCGGTGTGTATACAGTAGTCCCCCCTTATCCTCATCTGGTGT GTATACAGTAGTCCCCCCTTATCCTCATCCGGTGTGTATACAGTAGTCCC CCTTATCC	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	7/16			chr5	TogoVar
COL18A1_chr21_45400165_45518720	45500976	T T	TAGTGTGG others(479): Show TAGTGTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGT GGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTT TGGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTG GGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGT GTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0187 a0001c0011t0001g0187	1	274	0.0036	486	c.268 others(505): Show c.2684-3000_2684-2999insTAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGT GTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGGTTTGGTGTGTTGGG TGTGTAGTGTGGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGT GGGGGTGTGGTTTGGTGTGTGTGTGTTGGGTGTGTAGTGTGGGGGTGTGG TTTGGTGTGTGTGTGTTGGGTGTGGAGTGTGGGGGTGTGGTTTGGTGTGT GTTGGGTGTG	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	32/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110255668	C C	CAAGAAGG others(479): Show CAAGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGG AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0099 a0003c0099	a0003c0099t0003 a0003c0099t0003	a0003c0099t0003g0230 a0003c0099t0003g0230	1	273	0.0037	486	c.85- others(503): Show c.85-12935_85-12934insTCCCCCTTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCC CTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTC CCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTT CCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT CCCTTCTT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CRTC3_chr15_90524923_90650345	90647359	A A	ACACCCCT others(479): Show ACACCCCTCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCTCCTC CTCTACACCCCGCCTCCTCCTCCACACCCCTCCTCCTCCTCCACACCCCT CCTCCTCCACACCCCTCTTCCTCCTCCATACCCCTCCTCCTCAACCCTCC TCCTTCACACCCCTCACCCCTTTTCCACATCCCTCCTCCTTGCCCCTCCT CCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCTCCTCCATACCCCTCC TTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCACCCCTTCTCCTCCTC CACACCTGTCCTCCTCCACACTCATCCTCCTCACCGTTCCTCCACCACAT CCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCCTCCTCCAAACGCTTC TTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTCCACATCCCTCCCCCT CCATCCCCTCCACACCCCTCCCCCTCCTCACCCCGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	140	0.0071	486	c.52 others(497): Show c.5219_*5220insCACCCCTCCTCCTCCTCCACACCCCTCCTCCTCC TCCACACCCCTCCTCCTCTACACCCCGCCTCCTCCTCCACACCCCTCCTC CTCCTCCACACCCCTCCTCCTCCACACCCCTCTTCCTCCTCCATACCCCT CCTCCTCAACCCTCCTCCTTCACACCCCTCACCCCTTTTCCACATCCCTC CTCCTTGCCCCTCCTCCTCACCCTTTGTCCTCCTCCACACCCCTTCTCCT CCTCCATACCCCTCCTTCTCAACCCTCCTCCTCCACACCCCTCCTCCTCA CCCCTTCTCCTCCTCCACACCTGTCCTCCTCCACACTCATCCTCCTCACC GTTCCTCCACCACATCCCTCCTCCTCCACACCCCTCCTCACCCCTTGTCC TCCTCCAAACGCTTCTTCCTCCTGTTTCTTCCTCCACACCCCTCCTGCTC CACATCCCTCCCCCTCCATCCCCTCCACACCCCTCCCCCTCCTCACCCCG TC	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		2015		chr15	TogoVar
CTSS_chr1_150725188_150770778	150744134	A A	ATATATTA others(479): Show ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGT ATACATAATATATTATATATTATATGTATATTATGTATACATAATATTTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATATTATATATTATATGTATATTATGTATACATA ATATATTATATATTATATGTATATTATGTATACATAATATATTATATATT ATATGTATATTATGTATACATAATATTTATATATTATATGTATATTATGT ATACATAATATATTATATATTATATGTATATTATGTATACATAATATTTA TATATTATATGTATATTATGTATACATAATATATTATATATTATATGTAT ATTATGTATACATAATATTTATATATTATATGTATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG02257.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	2	86	0.0233	486	c.896 others(503): Show c.896+3642_896+3643insATATACATATAATATATAAATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAAATATTATGTATACATAA TATACATATAATATATAATATATTATGTATACATAATATACATATAATAT ATAATATATTATGTATACATAATATACATATAATATATAATATATTATGT ATACATAATATACATATAATATATAATATATTATGTATACATAATATACA TATAATATATAAATATTATGTATACATAATATACATATAATATATAATAT ATTATGTATACATAATATACATATAATATATAAATATTATGTATACATAA TATACATATAATATATAATATATTATGTATACATAATATACATATAATAT ATAATATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(479): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA TGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGA GGAGACATGGGAACCCACGATCACCCATCACGTGGTT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18952.hp2 NA18961.hp1 others(1): Show NA18947.hp2 NA18952.hp2 NA18961.hp1 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	4	141	0.0284	486	c.86- others(499): Show c.86-626_86-625insAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCATAGGACTCACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTC CCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTC CACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
CYBC1_chr17_82437586_82455752	82448246	A A	AAGTGGAC others(479): Show AAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGA CATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTA TGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCAC CCATCACGTGGTTAGTGGACTGTGAGTCCTATGAAGAGGTCTGAGGACCA GGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGA CTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGA ACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAG GTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCAC GTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGA GGAGACATGGGAACCCACGATCACCCATCACGTGGTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp1 others(68): Show HG00423.hp1 HG00597.hp2 HG00639.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01175.hp1 HG01358.hp2 HG01433.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp2 HG02273.hp1 HG02300.hp2 HG02523.hp2 HG02683.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp2 NA18612.hp2 NA18942.hp1 NA18950.hp2 NA18953.hp2 NA18956.hp2 NA18959.hp1 NA18965.hp2 NA18966.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18985.hp2 NA18991.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 others(4): Show a0001c0001t0001 a0001c0001t0018 a0001c0001t0023 a0001c0002t0002 a0001c0002t0006 a0001c0002t0020 a0001c0002t0024	a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0018g0056 others(9): Show a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0018g0056 a0001c0001t0023g0057 a0001c0002t0002g0002 a0001c0002t0002g0025 a0001c0002t0002g0049 a0001c0002t0002g0055 a0001c0002t0002g0067 a0001c0002t0006g0026 a0001c0002t0020g0051 a0001c0002t0024g0117	71	208	0.3413	486	c.86- others(499): Show c.86-626_86-625insAACCACGTGATGGGTGATCGTGGGTTCCCATG TCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTA ACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCT CAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCG TGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACT CACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTC CTCCCTGGTCCTCAGACCTCTTCATAGGACTCACAGTCCACTAACCACGT GATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCT CTTCATAGGACTCACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTC CCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTC CACT	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
CYBC1_chr17_82437586_82455752	82448745	G G	GTCCTACG others(479): Show GTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCAC GATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGA GGACCAGGGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTT AGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGAC ATGGGAACCCACGATCACCCATCACGTGGTTAGTGGACTGTGAGTCCTAC GAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAACCCACGATCACC CATCACGTGGTTAGTGGACTGTGAGTCCTACGAAGAGGTCTGAGGACCAG GGAGGAGGAGACATGGGAACCCACGATCACCCATCACGTGGTTAGTGGAC TGTGAGTCCTACGAAGAGGTCTGAGGACCAGGGAGGAGGAGACATGGGAA CCCACGATCACCCATCACGTGGTTAGTGGACTGTGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0041 a0001c0001t0007g0041	1	408	0.0025	486	c.85+ others(499): Show c.85+424_85+425insTTCACAGTCCACTAACCACGTGATGGGTGATC GTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGAC TCACAGTCCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCT CCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACG TGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACC TCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGGTGATCGTGGGTT CCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGTAGGACTCACAGT CCACTAACCACGTGATGGGTGATCGTGGGTTCCCATGTCTCCTCCTCCCT GGTCCTCAGACCTCTTCGTAGGACTCACAGTCCACTAACCACGTGATGGG TGATCGTGGGTTCCCATGTCTCCTCCTCCCTGGTCCTCAGACCTCTTCGT AGGA	CYBC1	ENSG00000178927.19	transcript	ENST00000306645.10	protein_coding	2/6			chr17	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTGTAAC others(479): Show ACTGTAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCACTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCAC TATAACCATCACCACCATCACCACTATAACCACCACTACCACCACCACCA TTATAACCATCACCACCACCACTATAACCACCATCATCATCACCACCACT ACCACTACTTTAACCATTACCACCATTACTACTATAACCACCACCACCAC CACCACCACCACTATAATCATTACCACTATAACCACCACTACCACCACCA CCACCATTATAACCATCACCACCACCACTATAACCACCATCATCACCACC ACCACTACCACTACTATAACCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0207 a0001c0005t0008g0207	1	45	0.0222	486	c.724 others(505): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGGTGATGATGGTGGTTATAGTGGTGGTGGTGATGGT TATAATGGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTAATGATTATAG TGGTGGTGGTGGTGGTGGTGGTGGTTATAGTAGTAATGGTGGTAATGGTT AAAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGTGGT GATGGTTATAATGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGGTGG TGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTGATG GTTATAGTAGTGGTAGTGGTGGTGATGATGATGGTGGTTATAGTGGTGGT GGTGGTGGTTATAGTGGTGGTGGTGGTAGTGGTGGTTATAGTGGTGATGG TGGTGATGGTTATAGTGGTGGTGGTGGTGGTTATAGCAGTGATGGTGGTG ATGGTTACAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	478383	G G	GGAGGGGA others(479): Show GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAAGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGA AGAAGGGAGAAGAAGGGAGTGGAGGGTGAGGGGCGGGGAGGGAGGGGAGG GGAGAAGAGGGAGAAGAAGGGAGACCGAAGGGAGGGGAGGGGAGGGGCAG GGGAGGGGAGGGGAGAGGAAGGGAGGGGAAGGGAGGGGAGAGGAGGAGAG AAGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGA GAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGAGAGGG GCGGGGCGGAGAGGGGCGGGGCGGAGAGGGGCGGGGCGGGGCGGGGCGGG GAGGGGCAGACGGGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGACG GGGAGGGGAGGGGCAGACGGGGAGGGGAGGGGCAGAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0011 a0001c0002t0003g0011	1	57	0.0175	486	c.158 others(503): Show c.158-5835_158-5834insGTCTGCCCCTCCCCTCCCCGTCTGCCCC TCCCCTCCCCGTCTGCCCCTCCCCTCCCCGTCTGCCCCTCCCCTCCCCGT CTGCCCCTCCCCGCCCCGCCCCGCCCCGCCCCTCTCCGCCCCGCCCCTCT CCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCC CCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCCCCTCTCCGCCCCGCC CCTCTCCTTCTCTCCTCCTCTCCCCTCCCTTCCCCTCCCTTCCTCTCCCC TCCCCTCCCCTGCCCCTCCCCTCCCCTCCCTTCGGTCTCCCTTCTTCTCC CTCTTCTCCCCTCCCCTCCCTCCCCGCCCCTCACCCTCCACTCCCTTCTT CTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCTTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTT CTCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516640	G G	GTAAGGTG others(479): Show GTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGTGGACAGTGGGACA GGGGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAG GGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAG GGGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGG GGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGG GGGTAGGGTGGGAGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGG GGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACAGGG GGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGG GTGGGAGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGG GGGGACACGGGGTAGGGTGGGGGGGACACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0019 a0001c0001t0004g0019	1	77	0.0130	486	c.86- others(503): Show c.86-30111_86-30110insTACCCCCTGTGTCCCCCCCACCCTACCC CGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTCCC CCCTCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCC CACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCC CACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCC ACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCC ACCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCTCCCA CCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCA CCCTACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACC CCCTTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCCCTGTCCCACTGT CCACCTTA	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516660	G G	GGAGGGGG others(479): Show GGAGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAG GGGAAGGGGGTAAGGTGGACAGTGGGACAGGGGAAGGGGGTAAGGGGGGG ACAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGA CAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGA CAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGA CAGGGGGTAGGGTGGGAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGA CAGGGGGTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGG GTAGGGTGGGAGGGGGGACGGGGTAGGGTGGGAGGGGGGACGGGGTAGGG TGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGG GGGACACAGGGGGTAGGGTGGGGGGGGACACGGGGTA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0023	1	34	0.0294	486	c.86- others(503): Show c.86-30131_86-30130insTACCCCGTGTCCCCCCCCACCCTACCCC CTGTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGT CCCCCCCCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTC CCACCCTACCCCGTCCCCCCTCCCACCCTACCCCGTCCCCCCTCCCACCC TACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCC TACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCC TACCCCCTGTCCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCC TACCCCCTGTCCCCCCTCCCACCCTACCCCCTGTCCCCCCCTCCCACCCT ACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGTCCCACTGTCCACCTTAC CCCCTTCCCCTGTCCCACTGTCCACCTTACCCCCTTCCCCTTCGCCCCTT CCCCCCTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DIP2C_chr10_269201_694668	556311	C C	CCCCTCCC others(479): Show CCCCTCCCACAGCCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAG CCGGATCCCAGGACAGCACCCACCCACCCCTCCCACAGCCGGATCCGAGG ACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACC CCTCCCACAGCCAGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCC GGATCCCAGGACGGCACCCACCCACCCCCTCCCACAGCCGGATCCCAGGA CGGCACCCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCC ACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACA GCCGGATCCCAGGACGGCACCCACCCACCCCTCCCACAGCCGGATCCGAG GACAGCACCCACCCCTCCCACAGCCGGATCCCAGGACGGCACCCACCCAC CCCTCCCACAGCCAGATCCCAGGACGGCACCCACCCA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0040 a0001c0001t0003g0040	1	73	0.0137	486	c.86- others(503): Show c.86-69782_86-69781insTGGGTGGGTGCCGTCCTGGGATCTGGCT GTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTG GGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTG GGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGT GGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGTGGG TGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGGTGGGTGGGTGCCGTC CTGGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCTGGC TGTGGGAGGGGTGGGTGGGTGCCGTCCTGGGATCCGGCTGTGGGAGGGGT GGGTGCTGTCCTCGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCT GGGATCCGGCTGTGGGAGGGGTGGGTGGGTGCTGTCCTGGGATCCGGCTG TGGGAGGG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	759079	C C	CGACAGCC others(479): Show CGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTATCAATA CCCCCCACAACCTTCCCATTATCAATACCCCTGACAGCCTTCCCATTATC AATACCCCCCACAACCTTCCCATTATCAATACCCCCCACAGCCTTCCCGT TATCAATACCCCCCACAGCCTTCCCATTATCAATACCCCTGACAGCTTTC CCATTATCAATACCCCCCACAACCTTCCCATTATCAATACCCCCCACAGC CTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCCCA CAGCCTTCCTGTTACCAATACCCGCAACAGCCTCCCTGTTGTCAATACCC CCGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAAT ACCCCCGACAGCCTTCCCATTATCAATACCCCTGACAGCTTTCCCATTAT CAATACCCCCCACAACCTTCCCATTATCAATACCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0016 a0004c0008t0016	a0004c0008t0016g0028 a0004c0008t0016g0028	1	37	0.0270	486	c.18+ others(503): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACC CCTGACAGCCTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAA TACCCCCCACAGCCTTCCCGTTATCAATACCCCCCACAGCCTTCCCATTA TCAATACCCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCC ATTATCAATACCCCCCACAGCCTTCCCGTTATCAATACCCCCGACAGCCT TCCCATTATCAATACCCCCCACAGCCTTCCTGTTACCAATACCCGCAACA GCCTCCCTGTTGTCAATACCCCCGACAGCCTTCCCATTATCAATACCCCC CACAACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATAC CCCTGACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCA ATACCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	990471	G G	GGACCCCC others(479): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCTCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTCCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCCCCTTGCCCGGACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCGGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0025 a0001c0010t0025	a0001c0010t0025g0012 a0001c0010t0025g0012	1	23	0.0435	486	c.73+ others(503): Show c.73+82549_73+82550insTCCTTGCCCACACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCACACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCC CTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCACA CCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCC CAGACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCT TGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC CCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	990957	A A	AGACCCCC others(479): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCCCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGT TCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTC CTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGA GTTCCTGTTCTTCTCTCCCTCCTTGCCCACACCCCCTGCACCCCCATACT CGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCA TACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	33	0.0303	486	c.73+ others(503): Show c.73+83035_73+83036insCCCTTGCCCAGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTTGCCCAGACCCC CTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGA CCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCC CGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCT TGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC TCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTC TCCCTCCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH17_chr17_78418697_78582396	78438423	A A	AGGAGGAG others(479): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAG GGAGGAGGAGGGGGAGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGA GGGGGAGGGGGAGGAGGGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGGGAGGA GGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAG GAGGAGGGAGGAAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAG GAGGAGGAGGGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGGAGGAGGAGGAAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGGGAGGGAGGAGGAGGAGGAGGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0199 a0003c0199	a0003c0199t0002 a0003c0199t0002	a0003c0199t0002g0141 a0003c0199t0002g0141	1	241	0.0041	486	c.118 others(505): Show c.11806-556_11806-555insCTCCTCCTCCTCCTCCTCCCTCCCCC TCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCT CCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTT CCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTC CTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCTC CTCCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCCCTCCT CCCCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCTCCTCCTCCC CCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CCTCCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCTCCTCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DOCK1_chr10_126900428_127457516	126948085	G G	GTGGTTGG others(479): Show GTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTA CTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGG TGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGT TGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTT GGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTT GGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTG GTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTG GTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGG TGGTGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0135 a0001c0004t0002g0135	1	128	0.0078	486	c.47- others(503): Show c.47-22613_47-22612insTGGTAGTATTACTGTTGGTGGTGATGGT GGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACT GTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTG GTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTG TTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTGG TTGGTAGTATTACTGTTGGTGGTGATGGTGGTGGTTGGTAGTATTACTGT TGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGTGGTGGTGGTGGTGGT TGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGTAGTATTACTGTTGGT GGTGATGGTGGTGGTTGGTAGTATTACTGTTGGTGGTGATGGTGGTTGGT AGTATTACTGTTGGTGGTGGTGGTGGTGGTTGGTAGTATTACTGTTGGTG GTGATGGT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(479): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	132	0.0076	486	c.417 others(503): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGTTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221526	A A	ACACTCAC others(479): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGG GAACACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG03942.hp2 HG01069.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0200 a0001c0001t0003g0201	2	61	0.0328	486	c.417 others(503): Show c.417-7279_417-7278insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221650	G G	GGGAACAC others(479): Show GGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTG AGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCAC AGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCAC TCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGA GCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	242	0.0041	486	c.417 others(503): Show c.417-7403_417-7402insGGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCAC TGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGAC TCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC CGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTG TTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGTGTGCG TGTGTTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99928095	G G	GTGGTGGT others(479): Show GTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGTTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTAGTGGTAGTAGTGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0004 a0004c0008t0004	a0004c0008t0004g0268 a0004c0008t0004g0268	1	281	0.0036	486	c.190 others(505): Show c.1909+7226_1909+7227insATGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGG TGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGTTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTAGTGGTAGTAGTGGTGGTGA TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGT GATGGTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(479): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01978.hp1 HG02109.hp1 others(3): Show HG01934.hp2 HG01978.hp1 HG02109.hp1 HG02258.hp1 HG03098.hp2 NA18747.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0001c0021 a0001c0058 others(3): Show a0001c0002 a0001c0021 a0001c0058 a0002c0001 a0002c0022 a0005c0007	a0001c0002t0001 a0001c0021t0002 a0001c0058t0002 others(3): Show a0001c0002t0001 a0001c0021t0002 a0001c0058t0002 a0002c0001t0001 a0002c0022t0003 a0005c0007t0003	a0001c0002t0001g0138 a0001c0021t0002g0047 a0001c0058t0002g0046 others(3): Show a0001c0002t0001g0138 a0001c0021t0002g0047 a0001c0058t0002g0046 a0002c0001t0001g0144 a0002c0022t0003g0129 a0005c0007t0003g0093	6	79	0.0759	486	c.282 others(505): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTT GTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(479): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTG TATACAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0165 a0004c0008t0001g0165	1	141	0.0071	486	c.282 others(505): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTAT ACAAAGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTT GTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
FOXK2_chr17_82514732_82609602	82586356	A A	AGGGGAAA others(479): Show AGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCAGG GGGGAATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGG GGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGG GAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCAGGGGGG AATGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCGGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGCCGGGGGGGAAAGG AGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGA GGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGTGGAGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0161 a0001c0001t0003g0161	1	125	0.0080	486	c.157 others(503): Show c.1576+201_1576+202insCAGGGGGGAATGGAGGAGAGGGGAGACC ACAGGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCA CAGGGAGGTCAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACA GGGAGGTGAAAGGTGGGCCAGGGGGGAATGGAGGAGAGGGGAGACCACAG GGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGG GAGGTGAAAGGTGGGCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGA GGTGAAAGGTGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGG TGAAAGGTGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGT CAAAGGTGGGTGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTGGGCCAGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAA AGGTGGGC	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
GAS6_chr13_113815549_113869076	113826421	G G	GCCGGCCT others(479): Show GCCGGCCTTGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGG CTTCGCGGGCACCTTCTCTCCCCGGCCTCCTGGCACTGGCCTCGCAGGCA CCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCC CCGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCAGCCTCCCAG CGCCGGCCTTGCAGGCACCTTCTCTCCCCGGCCTCCTGGCACTGGCCTCG CAGGCACCTTCTCTCCCCAGCCTCCCAGCGCCGGCCTTGCAGGCACCTTC TCTCCCCGGCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTCTCTCC CCAGCCTCCCGGCGCCGGCCTTGCAGGCACCTTCTCTCCCCAGCCTCCCA GCGCCGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCAGCCTC GGCTTCGCGGGCACCTTCTCTCCCCGGCCTCCTGGCA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0112 a0001c0006t0001g0112	1	142	0.0070	486	c.147 others(503): Show c.1477+574_1477+575insTGCCAGGAGGCCGGGGAGAGAAGGTGCC CGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGA GGCCGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCCG GGAGGCTGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAGG CCGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCTGGGAGGCTGGGGAGAGA AGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTGCCTGCA AGGCCGGCGCTGGGAGGCTGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCC GGGAGGCGGGGGAGAGAAGGTGCCTGCGAGGCCGGCGCCGGGAGGCCGGG GAGAGAAGGTGCCTGCGAGGCCAGTGCCAGGAGGCCGGGGAGAGAAGGTG CCCGCGAAGCCGAGGCTGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC AAGGCCGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GJA9_chr1_38869069_38886587	38870012	C C	CAAAAAAA others(479): Show CAAAAAAAATTAGCCGGGGGTCTCCGGTCCGTGCCTCCAAGATGACAAAG AAAAGAAGGAACAATGGTCGTGCCAAAAAGGGCCGCGGCCACGTGCAGCC TATTCGCTGCACTAACTGTGCCCGATGCGTGCCCAAGGACAAGGCCATTA AGAAATTCGTCATTCGAAACATAGTGGAGGCCGCAGCAGTCAGGGACATT TCTGAAGCGAGCGTCTTCGATGCCTATGTGCTTCCCAAGCTGTATGTGAA GCTACATTACTGTGTGAGTTGTGCAATTCACAGCAAAGTAGTCAGGAATC GATCTCGTGAAGCCCGCAAGGACCGAACACCCCCACCCCGATTTAGACCT GCGGGTGCTGCCCCACGTCCCCCACCAAAGCCCATGTAAGGAGCTGAGTT CTTAAAGACTGAAGACAGGCTATTCTCTGGAGAAAAATAAAATGGAAATT GTACTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	433	0.0023	486	c.45 others(497): Show c.4538_*4539insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAG TACAATTTCCATTTTATTTTTCTCCAGAGAATAGCCTGTCTTCAGTCTTT AAGAACTCAGCTCCTTACATGGGCTTTGGTGGGGGACGTGGGGCAGCACC CGCAGGTCTAAATCGGGGTGGGGGTGTTCGGTCCTTGCGGGCTTCACGAG ATCGATTCCTGACTACTTTGCTGTGAATTGCACAACTCACACAGTAATGT AGCTTCACATACAGCTTGGGAAGCACATAGGCATCGAAGACGCTCGCTTC AGAAATGTCCCTGACTGCTGCGGCCTCCACTATGTTTCGAATGACGAATT TCTTAATGGCCTTGTCCTTGGGCACGCATCGGGCACAGTTAGTGCAGCGA ATAGGCTGCACGTGGCCGCGGCCCTTTTTGGCACGACCATTGTTCCTTCT TTTCTTTGTCATCTTGGAGGCACGGACCGGAGACCCCCGGCTAATTTTTT TT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		4056		chr1	TogoVar
GLB1L3_chr11_134271379_134324564	134308214	C C	CCACCACC others(479): Show CCACCACCACCACCATCACCACCATCACCACCATCACCATCACCACCACC ACCATCATCACCATCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATC ACCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATCAC CACCATCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA CCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCAT CACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCATCA CCTCCACCACCACCACCACTATCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0360 a0001c0002t0001g0360	1	380	0.0026	486	c.961 others(503): Show c.961+1008_961+1009insCCACCACCACCATCACCACCATCACCAC CATCACCATCACCACCACCACCATCATCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCC ACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCAC CATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCA TCACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCATC ACCACCACCACCACCACCACCACCAAATACCACCACCACCACCATGTCCA CCACCACTACCACCACCATCACCATCACCACCACCACCACCACCATCACC ATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACCACCAT CACCATCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLIS1_chr1_53501239_53744164	53525463	A A	AGGCTGGG others(479): Show AGGCTGGGGAGGCTGGGGAGGTTGGGGGTGCTGGGAGTCTGGGGAGGCTG GGGAGGTGGGGGGCTGGGGAGGCTGGGGAGGTGGAGGCTGGGGAGGTGGG GAGGCTGGGGGCTGGGAGGCTGGGGAGGTGGGGGGCTGGGGAGGCTGGGG TGTTGGGGAGGCTGGGGAGGTGGGGGGCTGGGAAGGCTGGGGAGGTGGGG GGCTGGGAAGGCTGGGGAGGTGGGGGGCTAAGAAGGCTGGGGGGCTGGGG TGCTGGGGAGGCTGGGGAGGTGGGGGCTGGGGAGGCTGGGGGGCTGGGGC GCTGGGGAGGCTGGGGAGGCTGGGGGTGCTGGGCAGGCTGAGGAGGTGGG GAGGCTGGGGGGGGCAAGGGGTGGGGGAGGTAGGGAGGCTGGGGAGGCTG GGGGCGGGGGAGTCTGGGGAGGCTGGGGGGGTGGGGGGCTAGGAGGTGGG GGAGGCGGGGAGGCTGGGGAGGCTGGGGGGGCTGGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0030 a0030	a0030c0039 a0030c0039	a0030c0039t0002 a0030c0039t0002	a0030c0039t0002g0140 a0030c0039t0002g0140	1	129	0.0078	486	c.148 others(503): Show c.1483-577_1483-576insCCCCAGCCCCCCCAGCCTCCCCAGCCTC CCCGCCTCCCCCACCTCCTAGCCCCCCACCCCCCCAGCCTCCCCAGACTC CCCCGCCCCCAGCCTCCCCAGCCTCCCTACCTCCCCCACCCCTTGCCCCC CCCAGCCTCCCCACCTCCTCAGCCTGCCCAGCACCCCCAGCCTCCCCAGC CTCCCCAGCGCCCCAGCCCCCCAGCCTCCCCAGCCCCCACCTCCCCAGCC TCCCCAGCACCCCAGCCCCCCAGCCTTCTTAGCCCCCCACCTCCCCAGCC TTCCCAGCCCCCCACCTCCCCAGCCTTCCCAGCCCCCCACCTCCCCAGCC TCCCCAACACCCCAGCCTCCCCAGCCCCCCACCTCCCCAGCCTCCCAGCC CCCAGCCTCCCCACCTCCCCAGCCTCCACCTCCCCAGCCTCCCCAGCCCC CCACCTCCCCAGCCTCCCCAGACTCCCAGCACCCCCAACCTCCCCAGCCT CCCCAGCC	GLIS1	ENSG00000174332.6	transcript	ENST00000628545.2	protein_coding	5/10			chr1	TogoVar
GP6_chr19_55008705_55043264	55026964	T T	TGGCCCCG others(479): Show TGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTTCCCA CCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTTCCTT CCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCCACTT CCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCCTCCC ACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCTGCCC TCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGCCCAGGGCTTCCT GCCCTCCCACTTCCTTCCCACCTCTGGCGCCGCCCCTGCAGCCCAGGGCT TCCTGCCCTCCCACTTCTTTCCCACCTATGGCCGCGCCCCTACAGCCCAG GGCTTCCTGCCCTCCCACTTCCTTCCCACCTACGGCCCCGCCCCTGCAGC CCAGGGCTTCCTGCCCTCCCACTTCCTTCCCACCTAC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0076 a0003c0003t0003g0076	1	395	0.0025	486	c.610 others(501): Show c.610+128_610+613dupGTAGGTGGGAAGGAAGTGGGAGGGCAGGAA GCCCTGGGCTGCAGGGGCGGGGCCGTAGGTGGGAAGGAAGTGGGAGGGCA GGAAGCCCTGGGCTGTAGGGGCGCGGCCATAGGTGGGAAAGAAGTGGGAG GGCAGGAAGCCCTGGGCTGCAGGGGCGGCGCCAGAGGTGGGAAGGAAGTG GGAGGGCAGGAAGCCCTGGGCTGCAGGGGCGGGGCCGTAGGTGGGAAGGA AGTGGGAGGGCAGGAAGCCCTGGGCTGCAGGGGCGGGGCCGTAGGTGGGA AGGAAGTGGGAGGGCAGGAAGCCCTGGGCTGCAGGGGCGGGGCCGTAGGT GGGAAGGAAGTGGGAGGGCAGGAAGCCCTGGGCTGCAGGGGCGGGGCCGT AGGTGGGAAGGAAGTGGGAGGGCAGGAAGCCCTGGGCTGCAGGGGCGGGG CCGTAGGTGGGAAGGAAGTGGGAGGGCAGGAAGCCCTGGGCTGCAGGGGC GGGGCC	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	4/7			chr19	TogoVar
GPR173_chrX_53043789_53085615	53073913	A A	ATATATAT others(479): Show ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATTTATATATATATAAATATATATATTTATATAT ATATATAAATATATATATTTATATATATATAAATATATATATTTATATAT ATATATAAATATATATATATATTTATATATATAAATATATATATATAAAT ATATATATTTATATATATAAATATATATATATAAATATATATATTTATAT ATATAAATATATATATATAAATATATATATATATAAATATATATATTTAT ATATATAAATATATATATATAAAAATATATATATTTATATATATAAATAT ATATTTATATATATAAATATATATATTTTTATATATAAATATATATATTT ATATATATAAATATATATATTTATATATATAAATATATATATTTATATAT ATAAATATATATATTTATATATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0025 a0001c0001t0023g0025	1	204	0.0049	486	c.-97 others(503): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATATAAAT ATATATATTTATATATATATAAATATATATATTTATATATATATAAATAT ATATATTTATATATATATATAAATATATATATTTATATATATATAAATAT ATATATTTATATATATATATAAATATATATATATATTTATATATATAAAT ATATATATATAAATATATATATTTATATATATAAATATATATATATAAAT ATATATATTTATATATATAAATATATATATATAAATATATATATATATAA ATATATATATTTATATATATAAATATATATATATAAAAATATATATATTT ATATATATAAATATATATTTATATATATAAATATATATATTTTTATATAT AAATATATATATTTATATATATAAATATATATATTTATATATATAAATAT ATATATTTATATATATAAATATATATATTTATATATATATTTATATATAT TTATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar

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