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
PRKCZ_chr1_2045411_2190395	2123926	G G	GTAGTTAG others(836): Show GTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGG TTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGT CACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	251	0.0040	843	c.335 others(862): Show c.335-11335_335-11334insAGTTAGGGTCATGGTGGTAGTTAGGG TCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGAT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCGTGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCA CGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTG GGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RTEL1_chr20_63653312_63701245	63693570	T T	TCCACCAC others(836): Show TCCACCACCTCCACCTCCACCTCCACCACCACCACCACCACCTCCACCAC CTCCACCACCTCCACCTCCACCACCACCACCACCTCCACTACCTCCACCT CCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCCACC ACCACCACCACCACCACCACCTCCACTACCTCCACCTCCACCACCTCCAC CTCCACCACCTCCACCACCACCACCACCACCTCCACCACCACCACCACCA CCACCACCTCCACCTCCACTACCTCCACCTCCACCACCTCCACCTCCACC ACCTCCACCACCACCACCACCACCTCCACCACCACCACCACCACCACCAC CTCCACCTCCACCACCTCCACCACCTCCACCTCCACCTCCACCACCACCT CCACCTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACC ACCACCACCTCCACCACCTCCACCACCACCACCTCCACCACCACCACCAC CACCACCACCACCTCCACCACCACCTCCACCACCTCCACCACCACCACCA CCACCTCCACCTCCACCACCACCTCCACCACCTCCACCACCACCTCCACC TCCACCTCCACCTCCACCACCACCACCACCACCACCTCCACCTCCACCAC CACCTCCACCACCACCACCACCACCACCTCCACCTCCACCTCCACCTCCA CCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCTCC ACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCACCAC CACCACCTCCACCTCCACCACCACCTCCACCACCTCCACCTCCA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	39	0.0256	843	c.299 others(860): Show c.2992+292_2992+293insACCTCCACCTCCACCTCCACCACCACCA CCACCACCTCCACCACCTCCACCACCTCCACCTCCACCACCACCACCACC TCCACTACCTCCACCTCCACCACCTCCACCTCCACCACCTCCACCACCAC CACCACCACCTCCACCACCACCACCACCACCACCACCTCCACTACCTCCA CCTCCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCC ACCACCACCACCACCACCACCACCTCCACCTCCACTACCTCCACCTCCAC CACCTCCACCTCCACCACCTCCACCACCACCACCACCACCTCCACCACCA CCACCACCACCACCACCTCCACCTCCACCACCTCCACCACCTCCACCTCC ACCTCCACCACCACCTCCACCTCCACCACCTCCACCTCCACCACCTCCAC CTCCACCACCTCCACCACCACCACCTCCACCACCTCCACCACCACCACCT CCACCACCACCACCACCACCACCACCACCTCCACCACCACCTCCACCACC TCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACCTC CACCACCACCTCCACCTCCACCTCCACCTCCACCACCACCACCACCACCA CCTCCACCTCCACCACCACCTCCACCACCACCACCACCACCACCTCCACC TCCACCTCCACCTCCACCACCACCACCACCACCACCTCCACCTCCACCAC CACCTCCACCACCTCCACCACCACCACCACCACCTCCACCTCCACCACCA CCTCCACCACCACCACCACCACCTCCACCTCCACCACCACCTCCACCACC TCCACCTCCACCACC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RUSC2_chr9_35485111_35566895	35495159	T T	TTTTATAT others(836): Show TTTTATATATTATATTTTATATATAATATAATATATTTTATATATATTTT ATATATAATATAATATATTTTATATAATATATTATATATTATATAATATA TTTTATATAATATATTATATATTATATATAATATTTTATTATGTAATATA TAATATATATTTTATATATTATATATATTTTATTATATAATATATTTATA TATAATATATATTTTATATATAATATAATATATTTTATTTTATATAATGT ATTATATAATATATAATATATAACATATTTTATTATATATTATATAATAA TATATAACATATTTTATTATATATTATATAATAATATATAACATATTTTA TTATATATTATATAATAATATATAACATATTATATATTATATAATAATAT ATAACATATTTTATTATATAATATATAATATATTATATAATATATATTTT ATTGTATATAATATATTTTATTGTATATTATATATAATATATTTTATTGT ATATTATATATAATATATTTTATTGTATATTATATATAATATATTTTATT ATATAATTTATTATAATATATATATTTTATAATATATATAATATATTTTA TTATTATATATTTTATTATAATATATACAATATATTTTATTATAATATAT AATATATTTTATAATATATATATTTTATTATAATATATATATTTTATAAT ATATATATTTTATAATATATATATTTTATTATAATATATATTTTATTATA TATAATATATTTTATAATATATATAATATATTTTATTAAATATATATAAT ATATTTTATTAAATATATATAATATATTTTATTAAATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02257.hp1 HG02486.hp2 others(4): Show HG01175.hp1 HG02257.hp1 HG02486.hp2 HG02809.hp2 HG02922.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0193 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0253 a0001c0001t0002g0051	7	112	0.0625	843	c.-93 others(860): Show c.-93+4987_-93+4988insTTTATATATTATATTTTATATATAATAT AATATATTTTATATATATTTTATATATAATATAATATATTTTATATAATA TATTATATATTATATAATATATTTTATATAATATATTATATATTATATAT AATATTTTATTATGTAATATATAATATATATTTTATATATTATATATATT TTATTATATAATATATTTATATATAATATATATTTTATATATAATATAAT ATATTTTATTTTATATAATGTATTATATAATATATAATATATAACATATT TTATTATATATTATATAATAATATATAACATATTTTATTATATATTATAT AATAATATATAACATATTTTATTATATATTATATAATAATATATAACATA TTATATATTATATAATAATATATAACATATTTTATTATATAATATATAAT ATATTATATAATATATATTTTATTGTATATAATATATTTTATTGTATATT ATATATAATATATTTTATTGTATATTATATATAATATATTTTATTGTATA TTATATATAATATATTTTATTATATAATTTATTATAATATATATATTTTA TAATATATATAATATATTTTATTATTATATATTTTATTATAATATATACA ATATATTTTATTATAATATATAATATATTTTATAATATATATATTTTATT ATAATATATATATTTTATAATATATATATTTTATAATATATATATTTTAT TATAATATATATTTTATTATATATAATATATTTTATAATATATATAATAT ATTTTATTAAATATATATAATATATTTTATTAAATATATATAATATATTT TATTAAATATATATA	RUSC2	ENSG00000198853.12	transcript	ENST00000361226.8	protein_coding	1/11			chr9	TogoVar
SKI_chr1_2223319_2315213	2280735	G G	GGACGCCC others(836): Show GGACGCCCGAGAAGACATGCGGCGGCGGCGATCTTCAGAGAGCGGACGCC CGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGAGCGGACGCCCGAGAGG ACAGGCGGCGGCGGCGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCG GTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAGGACAGGCGGTGGCGG AGATCTTCATAGAGAGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGA AGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGG TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGAT CTTCAGAGAGAGAGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGG ACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGAC AGGTGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGACACCTGAGAAGACAGGCGGTGGCGGAG ATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0154 a0001c0001t0012g0154	1	132	0.0076	843	c.970 others(862): Show c.970-22243_970-22242insGACGCCCGAGAAGACATGCGGCGGCG GCGATCTTCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCT TCAGAGAGCGGACGCCCGAGAGGACAGGCGGCGGCGGCGATCTTCAGAGA GAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACG CCTGAGAGGACAGGCGGTGGCGGAGATCTTCATAGAGAGGTGGCGGAGAT CTTCAGAGAGAAGACACGTGAGAAGACAGGCGGTGGCGGAGATCTTCAGA GAGAGGACGCCCGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGA CGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGATGCCCGAGAAGA CAGGCGGTGGCGGAGATCTTCAGAGAGAAGACACGTGAGAAGACAGGTGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTC AGAGAGAAGACACGTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGA GGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACACC TGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAG ACAGGCGGTGGCGGAGATCTTCAGAGAGAGAGGACGCCCGAGAAGACAGG TGGTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGC GGAGATCTTCAGAGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6			chr1	TogoVar
SPATA6_chr1_48290373_48477204	48384352	G G	GGGAGAGG others(836): Show GGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGG GAGAGGGAGAGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGGG AGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGGGAGGGAGAGGGAGAGGGA GAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGGGAGAGGGAGAGGAG AGGGAGAGGGAGAGGGTGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGG GAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGGAGAGGGA GAGGGAGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGGGAGAGGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0215 a0001c0001t0002g0215	1	320	0.0031	843	c.909 others(858): Show c.909+956_909+957insTCTCCCTCTCCCTCTCCCTCCTCTCCCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCACC CTCTCCCTCTCCCTCTCCTCTCCCTCTCCCCTCTCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCCCTCCCTCTCCCTCTCCT CTCCCTCTCCCTCTCCCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCTCTCCCTCTCCCTCTCCCTCTCCTCTCCT CTCCTCTCCCTCTCCCTCTCCCTCTCCCCTCTCCCTCTCCCTCTCCCTCT CCTCTCCCTCTCC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
THBS3_chr1_155190588_155212897	155191012	G G	GTCCGGGG others(836): Show GTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGG CCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTG GAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGC GGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACAC CGTGGGCTGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCC GAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGC TCTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGCGGTGGAGCCCGGG GCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCTGGGGGGGGCGG TGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGACACCGTGGGCT GGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGGCCGAGGTGAC ACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGGTGTCCGGGG CCGAGGTGACACCGTGGGCTGGGGGGGGCGGTGGAGCCCGGGGCCGGCCT GCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCGGTGGAGCCCG GGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGCTGCGGGCGCG GTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGACACCGTGGGC TGCGGGCGCGGTGGAGCCCGGGGCCGGCCTGCTCTCCGGGGCCGAGGTGA CACCGTGGGCTGGGGGGGCGGTGGAGCCCGGGGCCGGCCTGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	280	0.0036	843	c.48 others(854): Show c.4828_*4829insGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCA GCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCAC CGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCC CGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGC AGGCCGGCCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGC CCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACGGT GTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCACCGCCCCCCC AGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCCCCGGGCTCCA CCGCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACACCAGGCCGGCC CCGGGCTCCACCGCCCCCCCCAGCCCACGGTGTCACCTCGGCCCCGGACA CCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTCG GCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCCAGCCCACG GTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTCCACCGCGCCC GCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGGCCCCGGGCTC CACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAGAGCAGGCCGG CCCCGGGCTCCACCGCGCCCGCAGCCCACGGTGTCACCTCGGCCCCGGAG AGCAGGCCGGCCCCGGGCTCCACCGCCCCCCCAGCCCACGGTGTCACCTC GGCCCCGGA	THBS3	ENSG00000169231.13	transcript	ENST00000368378.7	protein_coding		4575		chr1	TogoVar
TUBGCP5_chr15_22994177_23044569	23042991	T T	TGCCGGGA others(836): Show TGCCGGGAGGACTTCATAACCACACCTGGCCAGAGGTACCGGGGGGACAT CATAACCACACCTGGCCAGAGGTGCCGGTGGGACTTCATAACCCCACCTG GCCAGAGGTGCCGGGGGGACTTCATAACCACACGTGGACAGAGGTGCCGG GGGGACATCATAACCACACCTGGCCAGAGGTGCCGGGGGCACATCATAAC CTCACCTGGCCAGAGGTGCTGGGGGTGGGTATTATATCCCCACCTGGCCA GAGGTGCTGGGGGGGGACGTGATAACCACACTTGGCCAGAGGTGCCGGTG GGACTTCATAACCCCACCTGGCCAGAGGTGCCGGGGGGACTTCATAACCA CACCTGGCCAGAGGTGCCGGGGGGACATCATAACCACACCTGGCCAGAGG TGCCGGGGGGACAACATAACCACACCTGGCCAGAGGTGCCCGGAGGACTT CATAACCACACCTGGCCAGAGGTGCCGGGAGGACTTCATAACCACACCTG GCCAGAGGTGCCGGGCGGACTTCATAACCACACCTGGCCAGAGGTGCTGG GGGACATCATAACCCCACCTGGCCAGAGGTGCCAGGGGGGACATCATAAC CCCACCTGGCCAGAGGTGCTGGGGGACATCATAATCCCACCTGGCCAGAG GTGCTGTGGGGCCATCATAACCCCACTTGGCCGGAGGTGCTGGGGGGCGG GGGGAACTTCATAACCCCACCTGGCCAGAGGTGCTGGGGGTGAATTCATT ACTGTCACCTGGCCAGAGGTGCTGGGGGGATTTCATAACCCCACCTGGCT AGAGGTGCTGCGGGGGACTTCATAACCACACCTGGCCAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01515.hp1 HG01517.hp1 HG00323.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0181 a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0181	3	332	0.0090	843	c.-34 others(854): Show c.-3449_-3448insCACCTCTGGCCAGGTGTGGTTATGAAGTCCCCCG CAGCACCTCTAGCCAGGTGGGGTTATGAAATCCCCCCAGCACCTCTGGCC AGGTGACAGTAATGAATTCACCCCCAGCACCTCTGGCCAGGTGGGGTTAT GAAGTTCCCCCCGCCCCCCAGCACCTCCGGCCAAGTGGGGTTATGATGGC CCCACAGCACCTCTGGCCAGGTGGGATTATGATGTCCCCCAGCACCTCTG GCCAGGTGGGGTTATGATGTCCCCCCTGGCACCTCTGGCCAGGTGGGGTT ATGATGTCCCCCAGCACCTCTGGCCAGGTGTGGTTATGAAGTCCGCCCGG CACCTCTGGCCAGGTGTGGTTATGAAGTCCTCCCGGCACCTCTGGCCAGG TGTGGTTATGAAGTCCTCCGGGCACCTCTGGCCAGGTGTGGTTATGTTGT CCCCCCGGCACCTCTGGCCAGGTGTGGTTATGATGTCCCCCCGGCACCTC TGGCCAGGTGTGGTTATGAAGTCCCCCCGGCACCTCTGGCCAGGTGGGGT TATGAAGTCCCACCGGCACCTCTGGCCAAGTGTGGTTATCACGTCCCCCC CCAGCACCTCTGGCCAGGTGGGGATATAATACCCACCCCCAGCACCTCTG GCCAGGTGAGGTTATGATGTGCCCCCGGCACCTCTGGCCAGGTGTGGTTA TGATGTCCCCCCGGCACCTCTGTCCACGTGTGGTTATGAAGTCCCCCCGG CACCTCTGGCCAGGTGGGGTTATGAAGTCCCACCGGCACCTCTGGCCAGG TGTGGTTATGATGTCCCCCCGGTACCTCTGGCCAGGTGTGGTTATGAAGT CCTCCCGGC	TUBGCP5	ENSG00000275835.5	transcript	ENST00000615383.5	protein_coding		3423		chr15	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(836): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATAATATATATTATTATATGTTATTATATATAATAATATATAT TATTATATGTTATTATATATAATAATATATATTATTATATGTTATTATAT ATAATAATATAATATATATTATTATATGTTATTATATATAATAACATATT ATATATTATATGTTATTATATATAATAACATAATATATATTATATGTTAT TATATATAATAACATAATATATATTATATGTTATTATATATAATAACATA ATATATATTATTATATGTTATTATATATAATAACATAATATATATTATTA TATGTTATTATATATAATAACATAATATATATTATTATATGTTATTATAT ATAATAACATAATATATATTATTATATGTTATTATATATAATAATATAAT ATATATTATTATATGTTATTATATATAATAATATAATATATATTATTATA TGTTATTATATATAATAATATATATTATATTATTATATGTTATTATATAT AATAATATAATATATATTATTATATGTTATTATATATAATAATATAATAT ATATTATTATATATTATTTATTATATATAATATATATATAATTATATATA TTATATATTATTATATATAATATATATAATTATATATATTATATATATTA TATATAATAATAATATATATAATTATATATATTATATATAATAA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0002 a0002c0003t0002g0002	1	99	0.0101	843	c.392 others(860): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATAATTATATATATTAT ATATAATAATATATAATATATATAATTATATATATATTATATATAATAAA TAATATATAATAATATATATTATATTATTATATATAATAACATATAATAA TATATATTATATTATTATATATAATAACATATAATAATATAATATATATT ATTATATATAATAACATATAATAATATATATTATATTATTATATATAATA ACATATAATAATATATATTATATTATTATATATAATAACATATAATAATA TATATTATGTTATTATATATAATAACATATAATAATATATATTATGTTAT TATATATAATAACATATAATAATATATATTATGTTATTATATATAATAAC ATATAATAATATATATTATGTTATTATATATAATAACATATAATATATAT TATGTTATTATATATAATAACATATAATATATATTATGTTATTATATATA ATAACATATAATATATAATATGTTATTATATATAATAACATATAATAATA TATATTATATTATTATATATAATAACATATAATAATATATATTATTATAT ATAATAACATATAATAATATATATTATTATATATAATAACATATAATAAT ATATATTATATTATTATATATAATAACATATAATAATATATATTATATTA TTATATATAATAACATATAATAATATATATTATATTATTATATATAATAA CATATAATAATATATATTATATTATTATATATAATAACATATAATAATAT ATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
ULK1_chr12_131889622_131928150	131917102	G G	GTCGGGTT others(836): Show GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTG TGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGG TGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTG GGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGG GCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0040 a0001c0003t0001g0040	1	269	0.0037	843	c.218 others(858): Show c.2182+44_2182+45insGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGT GGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCG GAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGG TCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGG GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGA GGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTGGGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131917211	A A	ACGGGGGT others(836): Show ACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGC TCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGG GGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGG AGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGT CGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG TTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTG GGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCG GCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGAC GGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTC GGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGG GTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCG GGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTT CGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGG ATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0255 a0001c0003t0003g0255	1	324	0.0031	843	c.218 others(860): Show c.2182+149_2182+150insCGGGGGTCGGGTGGGGCTCGGAGGCTGT GGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTC GGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGA CGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCT CGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGA GGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCT GTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGT TCGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGG GATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGG CTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCG GAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGG TCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGG CTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGACGGGGGTCGG GTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGGTCGGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(836): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCC CCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	100	0.0100	843	c.-10 others(860): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC CCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCC CCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCT TCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ABR_chr17_998519_1184981	1173225	A A	ACATCACC others(837): Show ACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCA CCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTC AGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAG TCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAG TCCACCCAACACATCACCTCAGCCCACCCAACACGTCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGC CCCATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATC ACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCT CAGTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCA GTCCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCA GCCCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGTCCAC CCAACACATCACCTCAGTCCACCCCCCGCCCCATCACCTCAGCCCACCCC CCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCCCAT CACCTCAGCCCACCCAACACATCACCTCAGTCCACTCAACACATCACCTC AGCCCACCCCCCCCATCACCTCAGCCCACCCCCCCCATCACCTCAGCCCA CCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACCCAAC ACATCACCTCAGTCCACTCAACACATCACCTCAGCCCACCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0038 a0001c0001t0027g0038	1	278	0.0036	844	c.61+ others(859): Show c.61+6441_61+6442insGGGGGGGTGGGCTGAGGTGATGTGTTGAGT GGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTG AGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGGCTGAGGTGA TGGGGGGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGGTGATGTGTT GGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTGG GCTGAGGTGATGGGGGGGGTGGGCTGAGGTGATGGGGCGGGGGGTGGACT GAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTG ATGTGTTGGGTGGGCTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGAT GTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTG GGCTGAGGTGATGGGGCGGGGGGTGGACTGAGGTGATGTGTTGGGTGGAC TGAGGTGATGTGTTGGGTGGGCTGAGGTGACGTGTTGGGTGGGCTGAGGT GATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGGGTGGGCTGAGGTGA TGTCGGGGGGGTGGACTGAGGTGACGTGTGGGGGGTGGACTGAGGTGATG TGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTG TTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGT GGGCTGAGGTGATG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(837): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTTAAAAAA AAAAAAAAAATACATATATATATATATATTTAAAATTCCTTGTAAAAAGT GGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGGGAGGCCAA AGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	27	0.0370	844	c.94+ others(859): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATGTATTTTTTTTTTTTTTTTAAATATATATTCTTTTTTTTTAAACGGAG TCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCACTG CAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGGGAGAGGCA GGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTTTTTTTTTT TTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAGGCTGGTC TCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCCAAAGTGC TAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATATTTTTAA AGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTTGACTTCT GCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTCCACATGG GAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTTCTTTTCT TTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCCAGGCTGG AGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGTAGAGACGG GGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGTC GGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCAGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0014 a0014	a0014c0030 a0014c0030	a0014c0030t0013 a0014c0030t0013	a0014c0030t0013g0249 a0014c0030t0013g0249	1	103	0.0097	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGCCGGAGGCGGGGTAC GTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGTG GTGTGTACGGGGCGGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCAGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACATGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0009 a0001c0092t0009	a0001c0092t0009g0311 a0001c0092t0009g0311	1	103	0.0097	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CATGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCATGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0142 a0002c0013t0001g0142	1	103	0.0097	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCATGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGAGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0051 a0001c0001t0001g0052	2	104	0.0192	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGAGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG01256.hp1 others(14): Show HG00639.hp2 HG01071.hp1 HG01256.hp1 HG01943.hp2 HG01978.hp1 HG02027.hp1 HG02273.hp2 HG02300.hp2 HG03516.hp1 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 NA18906.hp1 NA19010.hp1 NA19087.hp1	a0001 a0002 a0006 others(3): Show a0001 a0002 a0006 a0007 a0011 a0066	a0001c0001 a0001c0032 a0001c0041 others(6): Show a0001c0001 a0001c0032 a0001c0041 a0001c0086 a0002c0008 a0006c0003 a0007c0004 a0011c0036 a0066c0047	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0032t0020 a0001c0041t0001 a0001c0086t0001 a0002c0008t0005 a0006c0003t0001 a0006c0003t0009 a0007c0004t0004 a0011c0036t0001 a0066c0047t0005	a0001c0001t0001g0072 a0001c0001t0001g0210 a0001c0001t0001g0329 others(14): Show a0001c0001t0001g0072 a0001c0001t0001g0210 a0001c0001t0001g0329 a0001c0001t0002g0065 a0001c0001t0002g0103 a0001c0001t0002g0237 a0001c0001t0009g0212 a0001c0032t0020g0266 a0001c0041t0001g0219 a0001c0086t0001g0021 a0002c0008t0005g0250 a0006c0003t0001g0165 a0006c0003t0001g0166 a0006c0003t0009g0167 a0007c0004t0004g0022 a0011c0036t0001g0034 a0066c0047t0005g0247	17	119	0.1429	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	103	0.0097	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA CGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTTGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18969.hp1 NA19091.hp1 NA18964.hp1 NA18969.hp1 NA19091.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0016c0018 a0001c0001 a0016c0018	a0001c0001t0002 a0016c0018t0004 a0001c0001t0002 a0016c0018t0004	a0001c0001t0002g0074 a0016c0018t0004g0033 a0016c0018t0004g0293 a0001c0001t0002g0074 a0016c0018t0004g0033 a0016c0018t0004g0293	3	105	0.0286	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGACGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTTGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CACNA1H_chr16_1148106_1226768	1185658	A A	ATAGGGGC others(837): Show ATAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCAGC GTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGT CGGCGTGCGTAGGGGCCGGAGGCGTGGTGTGTACGGGGCGGGTGAGTAGA TGGTCGGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGTGCGT AGGGGCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCATAGGGGCCGAAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCAGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGTCGGCGT GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGT GCATAGGGGCCGGAGGCGGGGTGTGTATGGGGCGGGTGAGTAGACGGTCG GTGTGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACG GCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGT AGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGACGGCGTAGGG GCCGGAGGCGGGGTGTGTACGGGGCAGGTGAGTAGACGGCGTGCGTAGGG GCCGGAGGCGGGGTACGTGGGGGGCGGGTGAGTAGACGGCATGTG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0056 a0056	a0056c0083 a0056c0083	a0056c0083t0003 a0056c0083t0003	a0056c0083t0003g0037 a0056c0083t0003g0037	1	103	0.0097	844	c.300 others(861): Show c.300-9268_300-9267insAGCGTGCGTAGGGGCCGGAGGCGGGGTA CGTGGGGGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGT GGTGTGTACGGGGCGGGTGAGTAGATGGTCGGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCATAGGGGCCGAAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCAGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGTCGGCGTGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCAGGTGAGTAGACGGCGTGCATAGGGGCCGGAGGCGGGGTGTG TATGGGGCGGGTGAGTAGACGGTCGGTGTGCGTAGGGGCCGGAGGCGGGG TGTGTACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCAGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTGTGTACG GGGCGGGTGAGTAGACGGCGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC AGGTGAGTAGACGGCGTGCGTAGGGGCCGGAGGCGGGGTACGTGGGGGGC GGGTGAGTAGACGGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGC GGGTGAGTAGACGGTC	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(837): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTT CCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACA CTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCC TCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCC TGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGC AGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCC CCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGC CCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGC ACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTC CTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0087 a0003c0004t0003g0087	1	56	0.0179	844	c.-29 others(855): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCT GCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGC AGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCA GTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGG AAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTG TGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAG GAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTG CTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CCDC88C_chr14_91266323_91422820	91293498	A A	ACCTGCCA others(837): Show ACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTTCCC ATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCAC CTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCACCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATTC TCACCTGCCACAGCTCACCTTCCCATTCTCACCTGCCACAGCTCACCTTC CTATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCCC ACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCCATCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGCCC CCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGC CACAGCTCACCTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCC CCTCACCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCTCAC CTTCCTGTCCCCTCGCCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGC CACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCCACCTTCCTGTCC CCTCACCTGCCACGGCCCACCTTCCTGTCCCCTCGCCTGCCACGGCCCAC CTTCCTGCCCCCTCGCCTGCCACAGCTCACCTTCCTGTCCCCTCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0017 a0017	a0017c0054 a0017c0054	a0017c0054t0014 a0017c0054t0014	a0017c0054t0014g0006 a0017c0054t0014g0006	1	229	0.0044	844	c.411 others(861): Show c.4112+674_4112+675insCGAGGGGACAGGAAGGTGAGCTGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCA GGCGAGGGGACAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTG GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGCGAGGGGA CAGGAAGGTGAGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGACAGGAAGGTG AGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTGGGCCGTGGCAGGTGAGGATGGGAAGGTGGGCCGTGGCAGG TGAGGGGACAGGAAGGTGGGCTGTGGCAGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATAGGAAGGTGAGCTGTGGCAGGTGAGAATGGGAAGG TGAGCTGTGGCAGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTG AGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGG CACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAAGGTGAG CTGTGGCAGGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATGGGAA GGTGAGCTGTGGCAGG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CIB2_chr15_78099606_78136445	78101731	G G	GAGAGGCA others(837): Show GAGAGGCAGCTGCTAGATTTGGATGTAAGATGGGGGCTTCCAGGCCCTTC TAAGGGCATTCTCTACAGCAGATCAGGGTTCCCATCCCCTCCGTCTCAGC CTCTGCAGGGGTCTTAGCGCCTCTGGGAGCAGGAGAATGGCCCCTTTGCT CCTACTCCCTCACCTTGTAGCTTTGGGCAAGACAAATTCCAGGACAACCA GTTAAACCTGAATTACAGATAAACAACAAATATTTTTGAGGCCAGGCATG GTGGCTCATGTCTGTAATCCTAGCCCTTTGGGAGGCTGAGGCAGGTGGAT TGCTTGAGCTTGGGAGTTTGAGACCAGCCTGGGCAACATGGCAAAATCCC ATCTCTATGAAAAAATACAAAAAATTGCCAGGCGTGGTGGCCTGTAGTCT CAGCTACCTGGCGGGCAGAAGCAGGAGGATGGCTTGAACCTGGGAGGTTA AAGTTGCAATGGGTCAAGATTGCACCACTGCACTCCAGCCTGGGAGACAA AGTGAGACCCTGTTTAAAAAAACAAACAAAAAACCAAACCAAAACAAAAC AAAAACCATTTTAAAGTATGTCTTAAATACCACAATTATTCCTTTGTTTA TCCGAAATTTAAATTTAACTGGCATCTATATTCTTGTTTAGCAACCCCAC CCAGGACCTCCATTTCCTCATCTGTAAAATGGGCTGATCCTCTGCTTGTA TCCAGGGGTAGGTGCCCAGAGGATAATGCTAGACACCCTCTCCTGCTCAG AACACAGCCCAGAGAGGGCTCTTGATGAACAGAGCTATTATTCTGAGGAT CTCTGGGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTATTGGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	388	0.0026	844	c.35 others(855): Show c.3579_*3580insGCCACCAATACCACCACCACCACTACCACCACCA CCACCCCAGAGATCCTCAGAATAATAGCTCTGTTCATCAAGAGCCCTCTC TGGGCTGTGTTCTGAGCAGGAGAGGGTGTCTAGCATTATCCTCTGGGCAC CTACCCCTGGATACAAGCAGAGGATCAGCCCATTTTACAGATGAGGAAAT GGAGGTCCTGGGTGGGGTTGCTAAACAAGAATATAGATGCCAGTTAAATT TAAATTTCGGATAAACAAAGGAATAATTGTGGTATTTAAGACATACTTTA AAATGGTTTTTGTTTTGTTTTGGTTTGGTTTTTTGTTTGTTTTTTTAAAC AGGGTCTCACTTTGTCTCCCAGGCTGGAGTGCAGTGGTGCAATCTTGACC CATTGCAACTTTAACCTCCCAGGTTCAAGCCATCCTCCTGCTTCTGCCCG CCAGGTAGCTGAGACTACAGGCCACCACGCCTGGCAATTTTTTGTATTTT TTCATAGAGATGGGATTTTGCCATGTTGCCCAGGCTGGTCTCAAACTCCC AAGCTCAAGCAATCCACCTGCCTCAGCCTCCCAAAGGGCTAGGATTACAG ACATGAGCCACCATGCCTGGCCTCAAAAATATTTGTTGTTTATCTGTAAT TCAGGTTTAACTGGTTGTCCTGGAATTTGTCTTGCCCAAAGCTACAAGGT GAGGGAGTAGGAGCAAAGGGGCCATTCTCCTGCTCCCAGAGGCGCTAAGA CCCCTGCAGAGGCTGAGACGGAGGGGATGGGAACCCTGATCTGCTGTAGA GAATGCCCTTAGAAGGGCCTGGAAGCCCCCATCTTACATCCAAATCTAGC AGCTGCCTCT	CIB2	ENSG00000136425.14	transcript	ENST00000258930.8	protein_coding		2874		chr15	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(837): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCA CCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCT TCCACCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCC CCCTCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTC CCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTCCCTCT TCCTCCCCCTCTCCCTCTTCCTCCCCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCCTCCTCTTCCTCCTCCA CTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTCCTCCTCCCCTTTCTCT TCCTCCTCCTCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0254 a0001c0002t0009g0254	1	2	0.5000	844	c.162 others(865): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCC CTCTTCCACCTCCTCCCCCTCTTCCACCTCCTCCCCCTCTTCCTCCTCCT CCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCC TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTTCCTCCCCCTCCCCCCTT CCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCT TCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCC TTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTC CTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCTCTCCCTCTTCCTCCCCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCC TCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTC CTCCTCCTCCTCCCCTTTCTCTTCCTCCTCCTCCCCTTCCTCTTCCTCCT CCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL21A1_chr6_56051590_56252580	56098108	T T	TATATAAA others(837): Show TATATAAATATATATAAATATATAAATATATATAAATATATATAAATATA AAAATATATATAAATATATAAATATATATAAATATATATGTAAATATATA AATATATATAAATATATATGTAAATATATAAATATATATAAATAAATATA TATAAATATATATAAATATAAATATATATATAAATATGTAATTATAAATA TATATGTAAATATATATAAATATAAATATATTTATAAATATATAAATATA AATATATTTATAAATATATAAATATATATAAAAATATATATAAATATATA AAAAAATATAAATATATATAAATATATAAATATATGTAAATATATATAAA TATATATATAAATATATATAAATATATATAAATATATATAAATATATAAC TATACAAATAAATATATATAAATATATAAATATATAAAAATATATATAAA TATATATGTAAATATATAAATATATATATAAATATATATAAATATATATA AGTATATAAATATATATAAATATATATAAGTATATAAATATATATATAAA TATATATAAGTATATAAATATATATATAAATATATATAAGTATATAAATA TATATAAATATATATAAGTATATAAATATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAATA TATGCAAATATATATAAATATATATATAAATAGATATATAAATAG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG03139.hp2 HG02293.hp2 HG03139.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0009 a0001c0002 a0005c0009	a0001c0002t0002 a0005c0009t0004 a0001c0002t0002 a0005c0009t0004	a0001c0002t0002g0172 a0005c0009t0004g0072 a0001c0002t0002g0172 a0005c0009t0004g0072	2	197	0.0102	844	c.181 others(863): Show c.1812+3363_1812+3364insCTATTTATATATCTATTTATATATAT ATTTATATATATTTGCATATATTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATATTTATAT ACTTATATATATTTATATATATTTATATACTTATATATATTTATATATAT ATTTATATACTTATATATATTTATATATATATTTATATACTTATATATAT TTATATATATTTATATACTTATATATATTTATATATATTTATATATATAT TTATATATTTACATATATATTTATATATATTTTTATATATTTATATATTT ATATATATTTATTTGTATAGTTATATATTTATATATATTTATATATATTT ATATATATTTATATATATATTTATATATATTTACATATATTTATATATTT ATATATATTTATATTTTTTTATATATTTATATATATTTTTATATATATTT ATATATTTATAAATATATTTATATTTATATATTTATAAATATATTTATAT TTATATATATTTACATATATATTTATAATTACATATTTATATATATATTT ATATTTATATATATTTATATATATTTATTTATATATATTTATATATTTAC ATATATATTTATATATATTTATATATTTACATATATATTTATATATATTT ATATATTTATATATATTTTTATATTTATATATATTTATATATATTTATAT ATTTATATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL21A1_chr6_56051590_56252580	56098118	T T	TATATAAA others(837): Show TATATAAATATATAAATATATATAAATATATATAAATATAAAAATATATA TAAATATATAAATATATATAAATATATATGTAAATATATAAATATATATA AATATATATGTAAATATATAAATATATATAAATAAATATATATAAATATA TATAAATATAAATATATATATAAATATGTAATTATAAATATATATGTAAA TATATATAAATATAAATATATTTATAAATATATAAATATAAATATATTTA TAAATATATAAATATATATAAAAATATATATAAATATATAAAAAAATATA AATATATATAAATATATAAATATATGTAAATATATATAAATATATATATA AATATATATAAATATATATAAATATATATAAATATATAACTATACAAATA AATATATATAAATATATAAATATATAAAAATATATATAAATATATATGTA AATATATAAATATATATATAAATATATATAAATATATATAAGTATATAAA TATATATAAATATATATAAGTATATAAATATATATATAAATATATATAAG TATATAAATATATATATAAATATATATAAGTATATAAATATATATAAATA TATATAAGTATATAAATATATATATAAATATATATAAGTATATATAAATA TATATAAATATATATAAGTATATATAAATATATATAAATATATATAAGTA TATATAAATATATATAAATATATATAAGTATATATAAATATATATAAATA TATATAAGTATATATAAATATATATAAATATATATAAATATATGCAAATA TATATAAATATATATATAAATAGATATATAAATAGATATAAATAG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18942.hp2 HG00558.hp2 NA18942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0183 a0001c0002t0002g0211 a0001c0002t0002g0183 a0001c0002t0002g0211	2	262	0.0076	844	c.181 others(863): Show c.1812+3353_1812+3354insCTATTTATATCTATTTATATATCTAT TTATATATATATTTATATATATTTGCATATATTTATATATATTTATATAT ATTTATATATACTTATATATATTTATATATATTTATATATACTTATATAT ATTTATATATATTTATATATACTTATATATATTTATATATATTTATATAT ACTTATATATATTTATATATATTTATATATACTTATATATATTTATATAT ATATTTATATACTTATATATATTTATATATATTTATATACTTATATATAT TTATATATATATTTATATACTTATATATATTTATATATATATTTATATAC TTATATATATTTATATATATTTATATACTTATATATATTTATATATATTT ATATATATATTTATATATTTACATATATATTTATATATATTTTTATATAT TTATATATTTATATATATTTATTTGTATAGTTATATATTTATATATATTT ATATATATTTATATATATTTATATATATATTTATATATATTTACATATAT TTATATATTTATATATATTTATATTTTTTTATATATTTATATATATTTTT ATATATATTTATATATTTATAAATATATTTATATTTATATATTTATAAAT ATATTTATATTTATATATATTTACATATATATTTATAATTACATATTTAT ATATATATTTATATTTATATATATTTATATATATTTATTTATATATATTT ATATATTTACATATATATTTATATATATTTATATATTTACATATATATTT ATATATATTTATATATTTATATATATTTTTATATTTATATATATTTATAT ATATTTATATATTTATAT	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	17/29			chr6	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18906.hp1 HG03516.hp1 NA18906.hp1	a0001 a0011 a0001 a0011	a0001c0003 a0011c0043 a0001c0003 a0011c0043	a0001c0003t0004 a0011c0043t0043 a0001c0003t0004 a0011c0043t0043	a0001c0003t0004g0038 a0011c0043t0043g0037 a0001c0003t0004g0038 a0011c0043t0043g0037	2	4	0.5000	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACC CATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCAT CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCA CCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0255 a0001c0003t0003g0255	1	3	0.3333	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCATCCACCAT CCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAA TTCATCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACC ATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATT AATTCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCGTCCATCCA CCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCCATCC ATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCCATCT GTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACCCATC CATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCATCCAT CCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCATCCAT CCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCACCCA TCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCCATCC ATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACCATCC ATCCATCCACCATCCATCCATTCATACTTCCATCATCCTCCCATTCATCC ATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp2 HG02976.hp1 HG03195.hp2	a0001 a0001	a0001c0018 a0001c0051 a0001c0018 a0001c0051	a0001c0018t0008 a0001c0051t0007 a0001c0018t0008 a0001c0051t0007	a0001c0018t0008g0179 a0001c0051t0007g0203 a0001c0018t0008g0179 a0001c0051t0007g0203	2	4	0.5000	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCC GTCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATC CATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATC CATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCAT TCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCA TCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCA TTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCC ATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATT CATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCAT CCACCATCCATCCATCCACCATCCATCCATTCATACTTCCATCATCCTCC CATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134685430	C C	CCATCCAT others(837): Show CCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCATCCATCCA TCCACCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCAT TCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTCATCCATCCA TCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTCCATCCATCC ATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATTCATCCATCC ATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCATCCATTCACC CATCCATCCATTCATCCATCCATCCACCATCCATCCATTAATTCATCCAT CCATCCATCCATCCATCCACCATCCATCCATCCACCATCCATCCATTCAT CCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACCATCCATTCA CCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATTAATTCATCC ATCCATCCATCCATCCATTCATCCATCCACCATCCATCCATCCATCCACC ATCCATCCATCCACCATCCATCCATTCATACATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCATC CATCCATCCATCCACCATCCATCCACCCATCCATCCACCATCCATCCATC CAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCATCCGTCCAT CCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCATCCATCCAT GCATCCATTCATCCATCCACCATCCATCCACCATCCATCCACCAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0002 a0001c0007t0006g0002	1	3	0.3333	844	c.110 others(861): Show c.110-5470_110-5469insCATCCATCCACCATCCATCCATCCATCC ATCCATCCATCCACCATCCATCCATCCATCCACCATCCATCCATCCACCA TCCATCCATTCATCCATCCATCCATTCATCCATCCATCATCCTCCCATTC ATCCATCCATCCACCATCCATCCATTCATTCATCCATCCATCCATCCGTC CATCCATCCATCCATGCATCTGTCATCCATCCACCATCCATCCATTCATT CATCCATCCATCTGTCCATCCATCCATCCATCCATCCATCCATCCACCAT CCATTCACCCATCCATCCATTCATCCATCCATCCACCATCCATCCATTAA TTCATCCATCCATCCATCCATCCATCCACCATCCATCCATCCACCATCCA TCCATTCATCCATCCATCTGTCCATCCATCCATCCATCCGTCCATCCACC ATCCATTCACCCATCCATCCATTCCTCCATCCATCCACCATCCATCCATT AATTCATCCATCCATCCATCCATCCATTCATCCATCCACCATCCATCCAT CCATCCACCATCCATCCATCCACCATCCATCCATTCATACATCCATCATC CTCCCATTCATCCATCCATCCACCATCCATCCATTCATTCATCCATCCAT CCATCCATCCATCCATCCATCCACCATCCATCCACCCATCCATCCACCAT CCATCCATCCAGCATCCATCCATCCATCTATTCATCCATCCATCCATCCA TCCGTCCATCCATCCATCCATCCTCCATCCATCCATCCATCCATCAACCA TCCATCCATGCATCCATTCATCCATCCACCATCCATCCACCATCCATCCA CCATCATCCATCCATT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(837): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGGTTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	177	0.0056	844	c.925 others(859): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGGTTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134729517	T T	TGTGTGTG others(837): Show TGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGCGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTG TGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCA CGGGTGTGCATGAGCCTGCGTGTGTGAGCGTGTGTGAGCGTGTGTGCATG CGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTG TGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01952.hp2 HG00323.hp2 HG01952.hp2	a0001 a0001	a0001c0011 a0001c0023 a0001c0011 a0001c0023	a0001c0011t0001 a0001c0023t0002 a0001c0011t0001 a0001c0023t0002	a0001c0011t0001g0193 a0001c0023t0002g0113 a0001c0011t0001g0193 a0001c0023t0002g0113	2	178	0.0112	844	c.925 others(859): Show c.925-674_925-673insCGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGTGAGCGTGTGTGAG CGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTGAGCGTG TGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGCGTGTGTG AGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTG TGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAG CCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTG CATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACG GGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCG GGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTG CATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTGTGAGCG TGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAGCGTGTG TGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTGTGTGAG CGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCCTGTGTG TGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCATGAGCC TGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGGTGTGCA TGAGCCTGTGTGTGTGAGCGTGTGTGAGCGTGTGTGCATGCGGGCACGGG TGTGCATGAGCCTG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	6/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(837): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGCTGCCACCACTACCCGCCC ACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGCTGCCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCAC CACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTAC CCGCCCACCACCATTACTGTCACCACTACCTGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	302	0.0033	844	c.513 others(861): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGCTGCCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCC ACCACCATTACTGCTGCCACCACTACCCGCCCACCACCATTACTGTCACC ACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA CTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGCCCAC CACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTAC CTGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DNAH10_chr12_123757301_123940714	123911540	A A	ACTGTCCC others(837): Show ACTGTCCCGGGGGGTCTGTCCTGGGGGGACTGTCCTGGGGGGATCTGTCC TGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGTTTGTCCTGGGGGAGTCT GTCCTGGGGGTGGTCTGTCCTGGAGGGGTCTGTCCTAGGGGAGTCTGTCC TGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGG GGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGGGTCTGTCCTGGGGGCGT CTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGTCTG TCCCAGGGGATCTGTCCTTGGGGGACTGTCCTGGGGGGGTCTGTCCTGGG GGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCCAGGGGGT CTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTGTCCTGGGGGGTCTGTCC TGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCTGGGGGAGTCTGTCCTGG GGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGT TTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGAGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGG GGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGAGTCTGTCCTGGGGGGGT CTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTGTCCTGGGGGCGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0107	1	127	0.0079	844	c.101 others(863): Show c.10134+874_10134+875insCGGGGGGTCTGTCCTGGGGGGACTGT CCTGGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCTGG GGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGGGT TTGTCCTGGGGGAGTCTGTCCTGGGGGTGGTCTGTCCTGGAGGGGTCTGT CCTAGGGGAGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCC GGGGGGGTCTGTCCCGGGGGGGTCTGTCCCGGGGGGACTGTCCTGGGGGG GTCTGTCCTGGGGGCGTCTGTCCTGGGGGTGGTCTGTCCTGGGGGGGGTC TGTCCCGGGGGGGTCTGTCCCAGGGGATCTGTCCTTGGGGGACTGTCCTG GGGGGGTCTGTCCTGGGGGCATCTGTCCTGGGGGGGGTCTGTCCTGGGGG GGTCTGTCCCAGGGGGTCTGTCCTGGGGGGATCTGTCCTGGGGAGGTCTG TCCTGGGGGGTCTGTCCTGGAGGTGTCTGTCCTTGGGGGGGGTCTGTCCT GGGGGAGTCTGTCCTGGGGGGGTCTGTCCTAGGGGGGTCTGTCCTGGGGG GTTTGTCCTGGGGGGGTTTGTCCTGGGGGGGTCTGTCCTGGGGGGGGGTC TGTCCTGGGGGAGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCT GGGGGGGTCTGTCCTGGGGGCGTCTGTCCTGGGGGGGGTCTGTCCTGGGG GGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGAGGTCTGTCCTGGGGGA GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGTTTGTCCTGGGGGGGGTCTG TCCTGGGGGCGTCTGTCC	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DPEP1_chr16_89608642_89643433	89619039	T T	TGCTCCCC others(837): Show TGCTCCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCC TCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCC CTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGAC CCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAG CCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCC CTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCGCTCCCCTCCCTGCAGC CCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCC CTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTC CCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCA GCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCTCCCCC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	155	0.0065	844	c.-10 others(863): Show c.-107+5327_-107+5328insCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCA TGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCCTGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGCAGCCCC CTGCCCCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTC CCTGCAGCCCCCTGACCCCCTGCTCCCTCCCTGCAGCCCCCTGCCCCCCC GCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTC CATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCTCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCTCCCCCGCTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619063	C C	CCCCCCCT others(837): Show CCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCG CTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCC TGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCC CTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCC TGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCC CCTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCC CCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCC CCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGC TCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	233	0.0043	844	c.-10 others(863): Show c.-107+5368_-107+5369insCCCCTGCCCCCCCGCTCCCCTCCCTG CAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCTGC TCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCT GCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGC TCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCT GCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCC TGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGTAGCCCC CTGCCCCCCCTGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC CGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCC CCTGCCCCCCCGCTCCCCTCCCTGTAGCCCCCTGCCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTC CCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCC TGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89634828	C C	CCCTTTCC others(837): Show CCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCCTTCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCT GCCTTCTCCGTTCTCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCTTCC TTCCCTTCCCTTCCTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCCTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTCCCTC TTCCCTTTCCTTCTCCTTCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCTTCTCCTTTCCCTT CCTTCTCCTTCCCTCCTTCCTTCCTTCCTTCCCCTTCCCTCCATCTCCTA TCCCCTTCCATACCCTTCCACCTTCCCTTTCCCTTCTCTCCTTTCCCTCC TTCTCCCTCTTCCCTTCCTCCTTCTCCTTTCCCTCTTCCCTTCCCTTTCT CCTTCCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCT TCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTCCCTTCCTT CTCCATTCCCTTCCTTCTCCTTTCCTTCCTTCTCCTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	225	0.0044	844	c.105 others(861): Show c.105-1080_105-1079insCCTTTCCCCTTCCTTCTCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCCTTCCCTTT CCCTTCCTTCTCCTTTCCCCTGCCTTCTCCGTTCTCTTCCTTCCCTTTCC CCTTCCTTCTCCTTTCCTTCCTTCCCTTCCCTTCCTCTCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTCCCCTTCCTTCCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTCCCTCTTCCCTTTCCTTCTCCTTCCTTCCTTCTC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCTTCTCCTTTCCCTTCCTTCTCCTTCCCTCCTTCCTTCCTTCCT TCCCCTTCCCTCCATCTCCTATCCCCTTCCATACCCTTCCACCTTCCCTT TCCCTTCTCTCCTTTCCCTCCTTCTCCCTCTTCCCTTCCTCCTTCTCCTT TCCCTCTTCCCTTCCCTTTCTCCTTCCCTTCCCTTTCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCTTCCCTTCCTTCTCCATTCCCTTCCTTCTCCTTTCCTTCC TTCTCCTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTT CTCCTTTCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPH7_chr9_137549444_137583925	137567928	G G	GGGGTGAC others(837): Show GGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCC CCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTG ACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTCAGGAAGCTCC CCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTG AGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGA AGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01261.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0128 a0001c0001t0001g0129	2	222	0.0090	844	c.641 others(861): Show c.641-2775_641-2774insAGGGGAGCTTCCTCACAGACAGAGTCAC CCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGAC AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGG GAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTC ACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCAC GGACAGAGTCACCCAGGGGAGCTTCCTGACAGACAGAGTCACCCAGGGGA GCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGA GCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTC ACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTTCCTCAC AGACAGAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGA GCTTCCTCACAGACAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCAC CCCGGGGAGCTTCCTCACAGAGTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCTTCCTC ACAGACAGAGTCACCC	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP6_chr7_154047398_154899285	154779089	C C	CTCTACCA others(837): Show CTCTACCACCACCACCACCACCATCACCTCCACCACCACCACCACAACCA CCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCATCACT TCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACCTCCAC AACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCACCACTA TCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCACCCCCC CATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCCATCAC CTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCACCACCA CAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCACCACC ACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAACCCATC ATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCACCACC ACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCTCCACC GCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCCCACCAT CACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCACCACCA TCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCA TCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAACTTCT ACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTATCACCAC CACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0027 a0001c0027t0027	a0001c0027t0027g0007 a0001c0027t0027g0007	1	2	0.5000	844	c.113 others(863): Show c.1136+6165_1136+6166insACCATCACCTCCACCACCACCACCAC AACCACCCCCACCATCACCTCCAAAACCTCCACCACCAGCACCACCACCA TCACTTCCACCACCACCACCACAACTACCCCCGCCATCACCTCCATCACC TCCACAACCTCTACCACCACCACCACCATCATCACCTCCACCACCATCAC CACTATCACCACCAACCCATCATCACCACCTCCACCACCACCACCATCAC CCCCCCATCACCTCCACCACCACCACCACAACCACCCCACCATCACCTCC ATCACCTCCACAATCTCCACCGCCAGCATCACCACCATCACCACCACCAC CACCACAACTACCCCCACCATCACCTCCATCACCTCCACAACCTCTACCA CCACCACCACCATCATCACCTCCACCACCATCACCACTATCACCACCAAC CCATCATCACCACCTCCACCACCACCACCATCACCCCCCCATCACCTCCA CCACCACCACCACAACCACCCCACCATCACCTCCATCACCTCCACAATCT CCACCGCCAGCATCACCACCATCACCACCACCACCACCACAACTACCCCC ACCATCACCTCCATCACCTCCACGACCACCACCACCATCATCACCTCCAC CACCATCACCACTATCACCACCAACCCATCATCACCACCTCCACCACCAC CACCATCACCCCCACCGTCACCTCCACCACCACCTCCATTACCTCCACAA CTTCTACCACCACCACCCCCACCACCACCAGCACCACTATCACCACTATC ACCACCACCCCCACCATCACCTCCACACCACCTCCATTACCTCCACAATT TCTACCACCACCACCACC	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	10/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(837): Show TTCAAAGTATTTTTTTTTTTTTTTTTTTTTTAAAATGAAAATCTATGAAG AAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTA AAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTG TTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGAT AAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAG GGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGA ATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCT ACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATG AAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACT CATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAA GGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGA ATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGT CCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATG TGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACA CATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGG GCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCG ACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0206 a0001c0001t0009g0206	1	368	0.0027	844	c.504 others(861): Show c.504+1229_504+1230insTTTTTTTTTTTTTTTTAAAATGAAAATC TATGAAGAAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATAC ATTTGTAAAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTC ATTACTGTTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAA GGATGATAAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGC TTTCCAGGGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGG AGTTTGAATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATG GTCGTCTACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAG CTTAATGAAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCAT ATCTACTCATGTGTGTATATGTATGTGTGTACACACACACACACACATAT ATATGAAGGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAA GCAAAGAATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGA AGAATGTCCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAA TGAGATGTGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTC AACAACACATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAA CCCGTGGGCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGA TGTTCCGACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGG GGTCAAAGTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
FHL5_chr6_96558128_96623626	96607286	T T	TTCAAAGT others(837): Show TTCAAAGTATTTTTTTTTTTTTTTTTTTTTTTAAATGAAAATCTATGAAG AAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATACATTTGTA AAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTCATTACTG TTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAAGGATGAT AAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGCTTTCCAG GGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGGAGTTTGA ATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATGGTCGTCT ACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAGCTTAATG AAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCATATCTACT CATGTGTGTATATGTATGTGTGTACACACACACACACACATATATATGAA GGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAAGCAAAGA ATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGAAGAATGT CCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAATGAGATG TGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTCAACAACA CATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAACCCGTGG GCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGATGTTCCG ACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGGGG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02630.hp1 HG02723.hp2 others(1): Show HG00733.hp2 HG02630.hp1 HG02723.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0009 a0004c0005t0001 a0001c0001t0009 a0004c0005t0001	a0001c0001t0009g0063 a0001c0001t0009g0064 a0004c0005t0001g0067 others(1): Show a0001c0001t0009g0063 a0001c0001t0009g0064 a0004c0005t0001g0067 a0004c0005t0001g0069	4	371	0.0108	844	c.504 others(861): Show c.504+1229_504+1230insTTTTTTTTTTTTTTTTTAAATGAAAATC TATGAAGAAATTTAATTAATTAATTACAAATCCTTTTATAACCAATATAC ATTTGTAAAGAGTCAACAAAAATTCATAAAACAGTGTTTCTGGTATTCTC ATTACTGTTTGTCCTGTAAATTTTGAGCACAAATCTGATGGAAGTCTGAA GGATGATAAAAATCTTTTTAATAATTTCTGAAGTACCTATATATACATGC TTTCCAGGGGAGGAAATAACACATTAGAGTTGGCAAGCACACTAACGGGG AGTTTGAATGGAGAAAATTAACTAGTAGTTTTGAAATCTCAAAATCCATG GTCGTCTACTGATACAAGTGAGTAAAGATAGAGAATAAGACTTTGAGGAG CTTAATGAAGTGGTCAGAGGTACAGCAGGGATAGAAGAAACCACCTGCAT ATCTACTCATGTGTGTATATGTATGTGTGTACACACACACACACACATAT ATATGAAGGTTAGTGTCAGAGATCCCAGTGAGAAAACTCAAATGCTCAAA GCAAAGAATATTTAACATTTTAACAAACTGCGTGGCAATAGAATAGAAGA AGAATGTCCGAGCAATGCTCCAGAGAGGAAAAAAGTTAACTTCCCATAAA TGAGATGTGTTTGCTGCAATATACTGTTAGCTGTTTCTATAAAAAGTGTC AACAACACATATGTTTCCAGTAGGCATATTTCCATTTAACACATTCTCAA CCCGTGGGCTATTTCCCTGAATCTGCTCTAGGAAAGCTTTTTTTAGCAGA TGTTCCGACAATCTGGAACTGCCCTAGCAATTAATTTTTATAGCCCACGG GGTCAAAGTATTTTTT	FHL5	ENSG00000112214.11	transcript	ENST00000450218.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0024 a0001c0001t0004g0024	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCCA TCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATC CATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAA CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGCTGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGG ATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGATGGA TGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0026	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(837): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	89	0.0112	844	c.666 others(861): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC AACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAA TCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATC CATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFT88_chr13_20562157_20696444	20695443	A A	AAGACCAT others(837): Show AAGACCATCCTGACCAACATGGTGAAACCCCGTCTCTACTAAAAAATACA AAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGGATCACTCGAGACCAGGACTTCAAGGTTACAGTGA GCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGAGACCCTGCAACTCAA CTCAATCCTTGACTGGATTGAAGTAATTAGTCCTGAATTCTCTCTGCCTA AGAGAGGAAAGAGGACCTTTCTATGGTAAGAATATCATTTGCAGTCTCTA TGGTTCTTAAATATACAATGCTTGGCATGTAATAAAATTACTGTGGCTGG GCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTGGGAGGTCAAGGCGGG CAGATCACGAGGTCAGGAGATCAAGACCATCCTGACCAACATGGTGAAAC CCCGTCTCTACTAAAAAATACAAAAAATTAGCCAGGCGTGATGGCAGGCA CCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTCGAGAC CAGGACTTCAAGGTTACAGTGAGCTGGGATTGCACTCCAGCCTGGGCAAC AGAAGGAGACCCTGCAACTCAACTCAATCCTTGACTGGATTGAAGTAATT AGTCCTGAATTCTCTCTGCCTAAGAGAGGAAAGAGGACCTTTCTATGGTA AGAATATCATTTGCAGTCTCTATGGTTCTTATATATACAATGCTTGGCAT GTAATAAAATTACTGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAG GACTTTGGGAGGTCAAGGCGGGCAGATCACGAGGTCAGGAGATCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	196	0.0051	844	c.42 others(855): Show c.4268_*4269insAGACCATCCTGACCAACATGGTGAAACCCCGTCT CTACTAAAAAATACAAAAAATTAGCCAGGCGTGATGGCAGGCACCGGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATCACTCGAGACCAGGACT TCAAGGTTACAGTGAGCTGGGATTGCACTCCAGCCTGGGCAACAGAAGGA GACCCTGCAACTCAACTCAATCCTTGACTGGATTGAAGTAATTAGTCCTG AATTCTCTCTGCCTAAGAGAGGAAAGAGGACCTTTCTATGGTAAGAATAT CATTTGCAGTCTCTATGGTTCTTAAATATACAATGCTTGGCATGTAATAA AATTACTGTGGCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGGACTTTG GGAGGTCAAGGCGGGCAGATCACGAGGTCAGGAGATCAAGACCATCCTGA CCAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCAG GCGTGATGGCAGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGGATCACTCGAGACCAGGACTTCAAGGTTACAGTGAGCTGGGATTGCAC TCCAGCCTGGGCAACAGAAGGAGACCCTGCAACTCAACTCAATCCTTGAC TGGATTGAAGTAATTAGTCCTGAATTCTCTCTGCCTAAGAGAGGAAAGAG GACCTTTCTATGGTAAGAATATCATTTGCAGTCTCTATGGTTCTTATATA TACAATGCTTGGCATGTAATAAAATTACTGTGGCTGGGCGCAGTGGCTCA CGCCTGTAATCCCAGGACTTTGGGAGGTCAAGGCGGGCAGATCACGAGGT CAGGAGATCG	IFT88	ENSG00000032742.18	transcript	ENST00000351808.10	protein_coding		4000		chr13	TogoVar

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