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
PTPRH_chr19_55176247_55214501	55207934	T T	TAGGGGCT others(652): Show TAGGGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGG TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGG TTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAG GGGCTGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT CGACCTCTGGTTTGAGGGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCT GAGGGAGGAGGGGCTGGGGTCTGGACTCCTGGGTCTGAGGGAGTAGGGGC TGGGGGTCTGGATTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTGGAC TCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGG GAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGG GGTCTGGACTCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGGCCT GGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAGGGAGG AGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTGGGGTC TGGACTCCTGGGTCTGAGGGAGTAGGGGCTGGGGGCCTGGATTCCTGGGT CTGAGGGAGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02004.hp2 HG03098.hp1 others(1): Show HG01891.hp1 HG02004.hp2 HG03098.hp1 HG03516.hp2	a0002 a0003 a0008 others(1): Show a0002 a0003 a0008 a0015	a0002c0099 a0003c0095 a0008c0101 others(1): Show a0002c0099 a0003c0095 a0008c0101 a0015c0094	a0002c0099t0001 a0003c0095t0001 a0008c0101t0002 others(1): Show a0002c0099t0001 a0003c0095t0001 a0008c0101t0002 a0015c0094t0001	a0002c0099t0001g0304 a0003c0095t0001g0189 a0008c0101t0002g0261 others(1): Show a0002c0099t0001g0304 a0003c0095t0001g0189 a0008c0101t0002g0261 a0015c0094t0001g0046	4	372	0.0108	659	c.52- others(672): Show c.52-736_52-735insCCTCCCTCAGACCCAGGAATCCAGGCCCCCAG CCCCTACTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCA GACTCAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGA GACCCCCAGCCCCTCCTCCCTCAGACCCAGGCCCCCAGGCCCCCAGGCCC TCCTCCCTCAGACCCAGGAGTCCAGACCCCAGCCCCTCCTCCCTCAGACT CAGGAGTCCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACC CCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCT CCCTCAGACCCAGGAATCCAGACCCCCAGCCCCTACTCCCTCAGACCCAG GAGTCCAGACCCCAGCCCCTCCTCCCTCAGACTCAGGAGTCCAGGCCCCC AACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCCCCTCCTCCCT CAGACCCAGGAATCCAGACCCCCAGCCCCTCCTCCCTCAGACTCAGGAGT CCAGGCCCCCAACCTCTCCTCCCTCAAACCAGAGGTCGAGACCCCCAGCC CCTCCTCCCTCAGACCCAGGAGTCCAGACCCCCAGCCCCTCCTCCCTCAG ACCCAGGAATCCAGACCCCCAGCCCCT	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(652): Show GTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGG TGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTGGTGATGATGGTGATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGATGATGGTGG TGGTGGTGATAATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAAT GGTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGG GTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG04228.hp2 HG01081.hp2 HG04228.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0060 a0004c0006t0001g0061 a0004c0006t0001g0060 a0004c0006t0001g0061	2	200	0.0100	659	c.-46 others(670): Show c.-4663_-4662insTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGGTGGTGATGGTGGTGGTGGTAATGGTGAT GGTGATGATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGGTGATGAT GGTGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGATGATGGTGGTGGTGGTGATAATGGTGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(652): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTG GGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGCC GCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGA GGGGAAGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAGGGGGCCGCGA GGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGG GCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGGCCGCGAGGGG GAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCC GCGAGGGGAGGAGGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0067 a0001c0002t0002g0067	1	3	0.3333	659	c.159 others(676): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCTCGCGGCCCCC TCCTCCCCACACAGCCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACG CGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCCTCGCGGCCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCACACG GCGCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCC CACGCGCCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCC CTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACAC GCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTCC CCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCC CTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACG CGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCT CCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCA TGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(652): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGGCCGCGAGGGGAGGAGGGGGGCCGCG TGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCG CCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAG GAGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGG GGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGG AGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCG CGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGGCCGCGAGGGGAGGA GGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0019 a0001c0002t0002g0019	1	3	0.3333	659	c.159 others(676): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGCCCC CCTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCC TCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGC GCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCCTCCTCCCC ACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCT CCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACGC CCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCCTCCTCCC CTCGCGGCCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCC CTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACG CGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCT CCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCC CCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCA TGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(652): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAG GGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGG GGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGC CGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGG AGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGT GGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGC CGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGG AGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGA GGGGAGGAGGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGG GCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGA GGAGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCG CGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGGCCGCGAGGGGAGGA GGGGGGCCGC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	3	0.3333	659	c.159 others(676): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGCCCC CCTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTC CTCCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGG CGCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCC CACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCC TCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACG CCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCTCCTCCC CTCGCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCC TCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGC GGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTC CCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCCC CCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCA TGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGG others(652): Show AGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGA AGGGAGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGG GGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGA GGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGA GAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGG GGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGA GGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGA GGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGG GGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGG GAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAG GGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGA GAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGGAGGGGGAGGGGT GGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	3	0.3333	659	c.12 others(670): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCCTCCTCT CCCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC CTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(652): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA19009.hp2 HG00280.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0085 a0001c0001t0005 a0001c0001t0085	a0001c0001t0005g0305 a0001c0001t0085g0295 a0001c0001t0005g0305 a0001c0001t0085g0295	2	4	0.5000	659	c.597 others(676): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCT TCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTC CCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCTTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTTT CCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCC TCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(652): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGC GAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGAGAAC GGGGAGAGAGAGGGGTGGGGGAATGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTCGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGG AGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAG AGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAG AGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGTGAGAGCGGGGTGGGAGAACGGGGTGGGAGCGGG GTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp2 HG01167.hp1 others(5): Show HG00544.hp1 HG00642.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01346.hp2 HG02257.hp2 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0009 a0001c0001 a0001c0002 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0002t0001 a0001c0002t0006 a0002c0009t0001	a0001c0001t0001g0043 a0001c0001t0002g0299 a0001c0001t0013g0114 others(5): Show a0001c0001t0001g0043 a0001c0001t0002g0299 a0001c0001t0013g0114 a0001c0002t0001g0054 a0001c0002t0001g0218 a0001c0002t0006g0024 a0001c0002t0006g0058 a0002c0009t0001g0180	8	11	0.7273	659	c.157 others(678): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCTCCCACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCC ACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCCCCGACCCCGCTCTCTCCCCGTTCCCCCACCCCG CTCCCACCCCATTCCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCT CTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCT CCCACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCT CTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCG CTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCAC CCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
SULF2_chr20_47652406_47790481	47670707	G G	GGGGGTGG others(652): Show GGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTG GGAGCGGGGTGGGAGAACGGGGTGGGAGAACGGGGTGGGGGTGGGAGCGG GGTGGGAGAACGGGGTGAGAGCGGGGTGGGACAGCGGGGTGGGACAGCGG GGTGGGAGAACGGGGTGGGAGAGCGGGGTGGGAGAGCAGGGTGGGAGGGG TGGGAGAACGGGGTGGGGGTGGGAGGGGGGTGGGAGAACGGGGTGGGAGC GAGGTGGGAGAACGGGGTGAGAGCGGGGTGGGAGAGCGGGGTGGGAGAAC GGGGAGAGAGAGGGGTGGGGGAATGGGGTGGGAGCGGGGTGGGGGAACGG GGAGAGAGCGGGGTCGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGG AGGGAGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGAG AGAGCGGGGTGGGGGAACGGGGTGAGAGCGGGGTGGGGGAACGGGGAGAG AGCGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAG CGGGGTGGGGGAACGGGGTGGGAGCGGGGTGGGGGAACGGGGTGGGAGCG GGGTGGGGGAACGGGGTGGGAGCGGGGTGGGAGAACGGGGTGGGAGCGGG GTGGGAGAAC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0200 a0001c0002t0001g0200	1	4	0.2500	659	c.157 others(678): Show c.1576+1490_1576+1491insGTTCTCCCACCCCGCTCCCACCCCGT TCTCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTC CCCCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCACCCCGTTCCC CCACCCCGCTCCCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCC ACCCCGCTCTCACCCCGTTCCCCCACCCCGCTCTCTCCCCGTTCCCCCAC CCCGCTCCCACCCCGTTCCCCCACCCCGCTCCCTCCCCGTTCCCCCACCC CGCTCTCACCCCGTTCCCCGACCCCGCTCTCTCCCCGTTCCCCCACCCCG CTCCCACCCCATTCCCCCACCCCTCTCTCTCCCCGTTCTCCCACCCCGCT CTCCCACCCCGCTCTCACCCCGTTCTCCCACCTCGCTCCCACCCCGTTCT CCCACCCCCCTCCCACCCCCACCCCGTTCTCCCACCCCTCCCACCCTGCT CTCCCACCCCGCTCTCCCACCCCGTTCTCCCACCCCGCTGTCCCACCCCG CTGTCCCACCCCGCTCTCACCCCGTTCTCCCACCCCGCTCCCACCCCCAC CCCGTTCTCCCACCCCGTTCTCCCACCCCGCTCCCACCCCCACCCCGTTC TCCCACCCCGTTCTCCCACCCCGCTCCCACCCC	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	11/20			chr20	TogoVar
TAF4_chr20_61969798_62070881	62057603	C C	CCAGCAAG others(652): Show CCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAG ACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACA CAGGTCTACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAG CAAGACCTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAA TGGGGCTCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGG TCTACACACCAGGCCACAGACAATGGGGCTCGGGGGGCCAACCTCAGCAA GACCTCAGGAAGGACGGACACAGGCCTACACACCAGGCCACAGACAATGG GGCTCGGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGCC TACACACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGAC CTCAGGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGC TCGGGGGCCAACCTCAGCAAGACCTCAGGAAGGACGGACACAGGTCTACA CACCAGGCCACAGACAATGGGGCTCGGGGGCCAACCTCAGCAAGACCTCA GGAAGGACGGACACAGGTCTACACACCAGGCCACAGACAATGGGGCTCGG GGGCCAACCT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0275 a0001c0002t0001g0275	1	220	0.0045	659	c.136 others(678): Show c.1360+6847_1360+6848insAGGTTGGCCCCCGAGCCCCATTGTCT GTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGG TTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCG TCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGG CCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGG CCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGGCCTGTGTCCGTCCT TCCTGAGGTCTTGCTGAGGTTGGCCCCCCGAGCCCCATTGTCTGTGGCCT GGTGTGTAGGCCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCC CCCGAGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTC CTGAGGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGT GTGTAGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTGAGGTTGGCCCCCG AGCCCCATTGTCTGTGGCCTGGTGTGTAGACCTGTGTCCGTCCTTCCTGA GGTCTTGCTGAGGTTGGCCCCCGAGCCCCATTGTCTGTGGCCTGGTGTGT AGACCTGTGTCCGTCCTTCCTGAGGTCTTGCTG	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	1/14			chr20	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(652): Show ACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTATCCACCC ACCCACCATCCACCATCCATCCACCACCCCCACATCCATCCTATCTACTC ACCCCCGTACCCATCCTATCCACCCACCCACCATCCCCCATCGTATCCAC CCACCCACCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTAT CCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCC TATCCACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCC ATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACATC CATCCTATCCACCCACCAACCCACCATCTGCCATCCTATCCACCCACCCA CCCACCATCCACCATCCTATCCACCCACCCATCATCCACTATCCATCCAC CACCCCCACACCCATCCTATCCACCCACCCATCATCCACCATCCACTCAC CCTCCATCCACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCA TCCACCTACTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTG TCCACCCACCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCA TCCACCCATC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18947.hp2 HG01934.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0216 a0001c0001t0006g0072 a0001c0001t0001g0216 a0001c0001t0006g0072	2	29	0.0690	659	c.113 others(678): Show c.113-25872_113-25871insCATCCCCCATCCTATCCACCCACCCA CCATCCCCCATCCTATCCACCCACCCACCATCCACCATCCATCCACCACC CCCACATCCATCCTATCTACTCACCCCCGTACCCATCCTATCCACCCACC CACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACC CCCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCC ACCCCCCCACCATCCCCCATCCTATCCACCCCCCCACCATCCCCCATCCT ATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCCA TCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCAACCCACCATC TGCCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCAC CCATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCAC CCATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCC GCCATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATAC ATCTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCC ACCTACCCATCCATCCTATCCATCCACCCATCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(652): Show CTCTCCCCTCCCCTCTCCCCCCCGTCTCCCCTCTCCTCTGTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTT TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCT CTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCTCCCCTCTCCCCTCCCCCCTCTCCCCTCTCCCCTACCCTC TCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCCTCTCCTCTCTCCTC CCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCC CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	46	0.0217	659	c.-25 others(678): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCGTCTCC CCTCTCCTCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTTTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCC TCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTC TTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCC TCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTC CCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCC ATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCC CCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTC CCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TOP1MT_chr8_143304324_143339880	143321834	A A	ACACGCCA others(652): Show ACACGCCACACACACGCCACACACACAGGCACGCCACACACACACAGGCA CGCCACACGCACGCCACACACGCATGCCACACACACGCACGCCACACACG CATGCCACACACAGCCACGCCACACACACACGCCACACACACACAGGCAC GCCACACACGCACGCCACACACACGCATGCCACACACACGCCACACACAC AGGCACGCCACACACAGGCACGCCACACACGCACGCCACACACGCACGCC ACACACGCACGCCACACACGCACGCCACACACAGGCACGCCACACACGCA CGCCACACACGCACGCCACACACACACGCACGCCACAAACGCACGCCACA CACGCACGCCACACACGCACGCCAGCCACACACGCACGCCACACACGAAC GCCACACAAACGCCACACACACGAATGCCACACGCACACCACACACGCAC GCCACACACGCACGCCACACACGCACGCCACACACAGGCATGCCACACAC ATGCACGCCACACACAGGCACGCCACACACGCACGCCACACACAGGCATG CCAAACACGCACGCCACACATGCATGCCACACACACAGGCACACCACACA CAGGCACGCCACACACACAGGCACGCCACACACATGCACGCCACACACGC ACGCCACACG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	230	0.0043	659	c.961 others(674): Show c.961-449_961-448insCGTGTGGCGTGCGTGTGTGGCGTGCATGTG TGTGGCGTGCCTGTGTGTGTGGCGTGCCTGTGTGTGGTGTGCCTGTGTGT GTGGCATGCATGTGTGGCGTGCGTGTTTGGCATGCCTGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCATGTGTGTGGCATGCCTGTGTG TGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGTGTGCGTG TGGCATTCGTGTGTGTGGCGTTTGTGTGGCGTTCGTGTGTGGCGTGCGTG TGTGGCTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTTTGTGGCG TGCGTGTGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCCTGT GTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGCGTGTGTGGCGTGC GTGTGTGGCGTGCCTGTGTGTGGCGTGCCTGTGTGTGTGGCGTGTGTGTG GCATGCGTGTGTGTGGCGTGCGTGTGTGGCGTGCCTGTGTGTGTGTGGCG TGTGTGTGTGGCGTGGCTGTGTGTGGCATGCGTGTGTGGCGTGCGTGTGT GTGGCATGCGTGTGTGGCGTGCGTGTGGCGTGCCTGTGTGTGTGTGGCGT GCCTGTGTGTGTGGCGTGTGTGTGGCGTG	TOP1MT	ENSG00000184428.13	transcript	ENST00000329245.9	protein_coding	7/13			chr8	TogoVar
TRIM48_chr11_55257155_55276114	55273323	T T	TTATATAT others(652): Show TTATATATATATTATATATATAAAAATTATATATATATTATATATATATA TAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATAAAAATTATATATATTATATATATATAAAAATTATATATATTATA TATAAAAATTATATATATATTATATATATATAAAATTATATATATATTAT ATATATATAAAAATTATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATATAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATATAAAAATTATATATA TATTATATATATATAAAAATTATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATATTATATATATATAA AAATTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	144	0.0069	659	c.28 others(670): Show c.2888_*2889insTATATATATATTATATATATAAAAATTATATATA TATTATATATATATATAAATTATATATATATTATATATATAAAAATTATA TATATATTATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATAAAAATTATATATATTATATATATATAAAA ATTATATATATTATATATAAAAATTATATATATATTATATATATATAAAA TTATATATATATTATATATATATAAAAATTATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT TATATATATATAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATATAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATTATATA TATATAAAAATTATATATATATTATATATATATAAAAATTATATATATAT ATTATATATATATAAAAATTATATA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2210		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273358	T T	TTATATAT others(652): Show TTATATATATAAAAAATTATATATATATTATATATATATAAAAATTATAT ATATATTATATATATATAAAAATTATATATATATTATATATATATAAAAA TTATATATATATTATATATAAAAATTATATATATTATATATATAAAAATT ATATATATATTATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATAAAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATAATATATA TATAAAAATTATATATATAATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTGTATATATATAAAAATTATATATATATTGTATATATATAAAAATTAT ATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	72	0.0139	659	c.29 others(670): Show c.2923_*2924insTATATATATAAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATAAAAATTATATATATT ATATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATATATTATATATATATAAAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTATATATAT ATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTAT ATATATATAAAAATTATATATATATTATATATATAAAAAAATTATATATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATAATATATATATAAAAATTATATATATAATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTGTATATATATAAAAATTATATATATATTGTAT ATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2245		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028634	C C	CCTCGTAA others(652): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCACACACACTCGT AAAGACCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACC CCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCCACACACACTCGTAAAGACCCCCATCACACCGT CCTGAAGACCCCACACACACTCGTAAAGACCCCCGTCATACCATCCTGAA GACCCCACACACCCTCGTAAAGACCCCCGTCATACCATCCTAAAGACCCC CACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCACACATA CCCTCGTAAAGACCCCATCACACCATCCTAAAGACCCCCACACACACTCG TAAAGACCCCATCACACCATCCTGAAGACCCCCACACACACTCGTAAAGA CCCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCCGT CATACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACACC GTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCATCCTA AAGACCCCCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACC CCCACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0091 a0003c0003t0001g0091	1	191	0.0052	659	c.225 others(678): Show c.2251+1795_2251+1796insTGTGTGTGGGGGTCTTCAGGATGGTG TGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGGTGTGATGG GGTCTTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTT TACGAGTGTGTGTGGGGGTCTTTAGGATGGTATGACGGGGGTCTTTACGA GTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGG TCTTTAGGATGGTGTGATGGGGTCTTTACGAGGGTATGTGTGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGATGG TATGACGGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTATGAC GGGGGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGGT CTTTACGAGTGTGTGTGGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTG TGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCCCT others(652): Show CCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCTCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCT CTCCTCCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCT CTCCTCCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCT CCTCTCTCCTCCCCTCCCCTACCCTCTCTCCTCCGCTCCCCTCCCCTCTC CTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCCCTCTC CTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCCCTCCT CTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCCCTCCC CTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTCCTCCC TTGCCGTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02647.hp2 HG01884.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0033 a0001c0002t0031 a0001c0002t0033	a0001c0002t0031g0065 a0001c0002t0033g0066 a0001c0002t0031g0065 a0001c0002t0033g0066	2	3	0.6667	659	c.53 others(670): Show c.5324_*5325insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGTAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGTG GAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAG AGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(652): Show TCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTTCCCTTTCCCCCCTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0095 a0001c0001t0011g0095	1	100	0.0100	659	c.-10 others(676): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCC CTTTTCCCTTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTT CCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(652): Show GTATATATACATGTATATATATACAAGTATATATATACTTGTATATATAT ATACAAGTATATATATACTTGTATACATATATACTATATATATACATATA TACACGTATATACGTATATATATGTATATATACATATATACGTGTATATA CGTATATACATGTATATACGTATATATACACATATATACATGTATATATA CGTATATATACACATATATACGTGTATATATACGTATATATACACATATA TACGTGTATATATACATGTATATATACACATATATACATGTATATATATA CGTATATATACATGTATATATACGTACGTATATATACATGTATATATACG TACGTATATATATACGTATATATACACATATATACATATATACGTATATA TATACGTATATATACATATATACGTATATATACATATATACGTATATATA TACGTATATATACATATATACGTATATATACATATATACGTATATATATA CGTATATATACATATATACGTATATATATATACGTATATATACATATATA CATGTATATATATATACGTATATATACATATATACATGTATATATATATA CGTATATACACATATATATACATGTATATATATGTGTATATATACATGTA TATATACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	183	0.0055	659	c.-42 others(670): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TACTTGTATATATATATACAAGTATATATATACTTGTATACATATATACT ATATATATACATATATACACGTATATACGTATATATATGTATATATACAT ATATACGTGTATATACGTATATACATGTATATACGTATATATACACATAT ATACATGTATATATACGTATATATACACATATATACGTGTATATATACGT ATATATACACATATATACGTGTATATATACATGTATATATACACATATAT ACATGTATATATATACGTATATATACATGTATATATACGTACGTATATAT ACATGTATATATACGTACGTATATATATACGTATATATACACATATATAC ATATATACGTATATATATACGTATATATACATATATACGTATATATACAT ATATACGTATATATATACGTATATATACATATATACGTATATATACATAT ATACGTATATATATACGTATATATACATATATACGTATATATATATACGT ATATATACATATATACATGTATATATATATACGTATATATACATATATAC ATGTATATATATATACGTATATACACATATATATACATGTATATATATGT GTATATATACATGTATATATACACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CGTATACG others(653): Show CGTATACGTATACGTGTACACACGTATACGTATACGTGTACACACGTATA CACGTATATACGTATACGTGTACACACGTATACACGTATATACGTATACG TGTACACACGTATACACGTATATACGTATACGTGTACACACATATATACA CGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACA CACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACG TGTACACACACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACACGTATATACGTATACGTGTACACACACATACACGTATATA CGTATACGTGTACACACACATACACGTATATACGTATACGTGTACACACA TATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATA CACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACA CATATACACGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0156 a0001c0002t0004g0156	1	112	0.0089	660	c.48- others(677): Show c.48-70750_48-70749insGTATACGTATACGTGTACACACGTATAC GTATACGTGTACACACGTATACACGTATATACGTATACGTGTACACACGT ATACACGTATATACGTATACGTGTACACACGTATACACGTATATACGTAT ACGTGTACACACATATATACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGT GTACACACACACGTATATACGTATACGTGTACACACACACGTATATACGT ATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTAT ATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACAC ACGTATATACGTATACGTGTACACACACACACGTATATACGTATACGTGT ACACACACATACACGTATATACGTATACGTGTACACACACATACACGTAT ATACGTATACGTGTACACACATATACGTATACGTGTACACACATATACAC GTATACGTGTACACACATATACACGTATACGTGTACACACATATACACGT ATATACGTATACGTGTACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
AP2A2_chr11_920870_1017240	980133	C C	CTGCCCGG others(653): Show CTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTG GAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGC CCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGG AGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCC CGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGA GCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGGTGCCC GGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAG CGGTGACAGGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0018 a0001c0006t0018	a0001c0006t0018g0100 a0001c0006t0018g0100	1	254	0.0039	660	c.604 others(675): Show c.604-802_604-801insCTGCCCGGTGCCGTGTCCTGGAGCGGTGAC AGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGT GTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACA GGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTG TCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAG GGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGT CCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGG GTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTC CTGGAGCGGTGACAGGGTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGC TGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCC TGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCT GCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCT GGAGCGGTGACAGGCTGCCCGGTGCCGTGTCCTGGAGCGGTGACAGGCTG CCCGGTGCCGTGTCCTGGAGCGGTGACAGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASAP2_chr2_9201812_9410678	9406194	T T	TGTGTCAC others(653): Show TGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCC TCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCG TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTTGTCACTGAGTGGACC TCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAG TGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTC ACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAG TGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGC CTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGTCTTCC TCAGGCCTTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0049 a0002c0001t0001g0049	1	210	0.0048	660	c.28 others(671): Show c.2867_*2868insGTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGAC CTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTAGTCTTCCTCAGGCCTTCAGTGTTT GTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGT GTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTT CAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCT TCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATC TCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGT GACATCTAGTCTTCCTCAGGCCTTCA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		517		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9406510	T T	TCTTCCTC others(653): Show TCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGAC ATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTC TGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTG GACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCAC TGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTC ACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTG TTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAG TGTGTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTCAGGCCTTC AGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCT TCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGGCTTCCTC AGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTCGTC TTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACAT CTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTG TGACATCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0125 a0002c0001t0010g0125	1	186	0.0054	660	c.31 others(671): Show c.3183_*3184insCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGA GTGGACCTCTGTGACATCTAGGCTTCCTCAGGCCTTCAGTGTGTGTTTGT CACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGT GTTTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCA GTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCTTCCTCAGG CCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGTCTTCCTCA GGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGACATCTAGGCT TCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTCGG CTTCCTCAGGCCTTCAGTGTGTGTCACTGAGTGGACCTCTGTGACATCTC GTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCTCTGTGA CATCTCGGCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGTGGACCT CTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCACTGAGT GGACCTCTGTGACATCTCGTCTTCCTCAGGCCTTCAGTGTGTGTTTGTCA CTGAGTGGACCTCTGTGACATCTCGG	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		833		chr2	TogoVar
ATP10A_chr15_25673712_25868327	25758253	A A	ACTCATTC others(653): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACCCTAACTCATTCCGATCACC TGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCA CCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTC CGATCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAAC TCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCCAC CCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCTATCACCTG CTCCACCCTAACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCTAT CACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCAT TCCGACCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCCACCCTA ACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCTATCACCTGCTCC ACCCTAACTCATTCCGACCACCTGCTCCACCCTCATTCCGACCACCTGCT CCACCCTAACTCATTCCTATCACCTGCTCCACCCTAACTCATTCCGACCA CCTGCTCCACC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0174 a0008c0006t0001g0174	1	280	0.0036	660	c.655 others(679): Show c.655-22113_655-22112insGGTGGAGCAGGTGGTCGGAATGAGTT AGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGT GATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGA GCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAG GGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATAGGAATG AGTTAGGGTGGAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTC GGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAG GTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTG GAGCAGGTGATAGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAGGG TGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGATCGGAATGAG TTAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCAGGTGATAGG AATGAGTTAGGGTGGAGCAGGTGGTCGGAATGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP9B_chr18_79064394_79383283	79200703	T T	TGTCAGAG others(653): Show TGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	76	0.0132	660	c.955 others(677): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200717	T T	TGGAGGTG others(653): Show TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGCGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTC AGAGCAGAGGC	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	251	0.0040	660	c.955 others(677): Show c.955-6211_955-6210insAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGT GGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCA GAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG AACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGCGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGG ACTGTCGGGGTCAGAGCAGAGGCGGAGGTGGG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79200750	T T	TGGAGGTG others(653): Show TGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTC GGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGT GGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCG GGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTG GAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGG GGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGG AGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGG GTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGA GGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGG TCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAG GTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGT CAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGG TGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTC AGAGCAGAGGC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	251	0.0040	660	c.955 others(677): Show c.955-6175_955-6174insTGTCGGGGTCAGAGCAGAGGTGGAGGTG GGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAG AGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGG GAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGA GCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGG GACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGACTGTCGGGGTCAGAG CAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGA ACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGC AGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAA CTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCA GAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGGAC TGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACTGTCGGGGTCAGAGCAG AGGTGGAGGTGGGGACTGTCGGGGTCAGAGCAGAGGTGGAGGTGGGAACT GTCGGGGTCAGAGCAGAGGCGGAGGTGGGAAC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	9/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AZU1_chr19_822837_837018	835500	G G	GCAGCCCC others(653): Show GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTG CAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGT CCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAGCCCCGTCCAGGCCCC GACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACG CGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCAGCCC CCTGGCAGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	296	0.0034	660	c.36 others(671): Show c.3623_*3624insCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCC GACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCG TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCCGCAG CCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGC CCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCTGGCAGAGCCAGCCCC GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCAGCCCCCTGGCAGAGC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3483		chr19	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(653): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGG AGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGG GGAAGGGGGAGCGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGA GCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAGGAGGA GGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAAGGAGGAGGAG GAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGA AGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAGGGGGAAGTGG GGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01934.hp1 HG01069.hp2 HG01071.hp2 HG01934.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0003 a0002c0003t0001g0003	3	10	0.3000	660	c.-70 others(669): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAG GGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAG GGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGAAG GAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGAAGAAGGAGGAGGAGGAAG GGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGG GGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGA AGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAG GAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C1QTNF12_chr1_1237453_1251722	1248905	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03471.hp2 NA20129.hp2 HG03453.hp2 HG03471.hp2 NA20129.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0001 a0004c0003t0001	a0004c0003t0001g0015 a0004c0003t0001g0043 a0004c0003t0001g0015 a0004c0003t0001g0043	3	269	0.0112	660	c.-22 others(671): Show c.-2216_-2215insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2184		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 NA18985.hp2 others(3): Show HG00423.hp1 HG00438.hp2 NA18985.hp2 NA19007.hp2 NA19065.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0001c0001t0001 a0001c0001t0002 a0001c0014t0001	a0001c0001t0001g0001 a0001c0001t0002g0008 a0001c0014t0001g0022 a0001c0001t0001g0001 a0001c0001t0002g0008 a0001c0014t0001g0022	6	84	0.0714	660	c.-23 others(671): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCT CCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp2 NA18974.hp2 NA19000.hp2 others(1): Show NA18747.hp2 NA18974.hp2 NA19000.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0096 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0006g0112	4	82	0.0488	660	c.-23 others(671): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C1QTNF12_chr1_1237453_1251722	1249037	G G	GCGAGGGA others(653): Show GCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCA GCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACA GGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGCGAGGGAGGCTGGGCCT CCCACTCCACCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGAGC GAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGC CCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGG CCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCC CACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGA GGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCC TGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACTCCGCCCTACAGGCC GGGACACGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCA CTCCGCCCTACAGGCCGGGACACGGGCAGCCCTGGGAGGCTGGACCGAGG GAGGCTGGGCCTCCCACTCCGCCCTACAGGCCGGGACACGGGCAGCCCTG GGAGGCTGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	79	0.0127	660	c.-23 others(671): Show c.-2348_-2347insGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCT GTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCT GCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGT CCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGG CCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGT AGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGC CCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCAGCCTCCCTCGGTCC AGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCC CAGCCTCCCTCGGTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAG GGCGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCC GTGTCCCGGCCTGTAGGGTGGAGTGGGAGGCCCAGCCTCCCTCGCTCCAG CCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGGCGGAGTGGGAGGCCCA GCCTCCCTCGCTCCAGCCTCCCAGGGCTGCCCGTGTCCCGGCCTGTAGGG CGGAGTGGGAGGCCCAGCCTCCCTCG	C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding		2316		chr1	TogoVar
C2orf80_chr2_208160347_208195030	208176938	T T	TAGGTGTA others(653): Show TAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGGTG TATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATACA TACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACGTA TACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACATA TCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTGTA TACATACGTATACATAGGTGTATACATACGTATACATATCTGTATACATA CGTATACATAGGTGTATACATACGTATACATATCTGTATACATACGTATA CATAGGTGTATACATACGTATACATATCTGTATACATACGTATACATAGG TGTATACATACGTATACATATCTGTATACATACGTATACATAGGTGTATA CATACGTATACATATCTGTATACATACGTATACATAGGTGTATACATACG TATACATATCTGTATACATACGTATACATAGGTGTATACATACGTATACA TATCTGTATACATACGTATACATAGGTGTATACATACGTATACATATCTG TATACAGATCTGTATACAGATGTATACAGATCTGTATACAGATGTATACA GATCTGTATAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	233	0.0043	660	c.366 others(677): Show c.366+3806_366+3807insGTATACAGATCTGTATACATCTGTATAC AGATCTGTATACATCTGTATACAGATCTGTATACAGATATGTATACGTAT GTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATAC ACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTAT GTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATAC GTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTATGT ATACAGATATGTATACGTATGTATACACCTATGTATACGTATGTATACAG ATATGTATACGTATGTATACACCTATGTATACGTATGTATACAGATATGT ATACGTATGTATACACCTATGTATACGTATGTATACAGATATGTATACGT ATGTATACACCTATGTATACGTATGTATACAGATATGTATACGTATGTAT ACACCTATGTATACGTATGTATACAGATATGTATACGTATGTATACACCT ATGTATACGTATGTATACAGATATGTATACGTATGTATACACCTATGTAT ACGTATGTATACAGATATGTATACGTATGTATACACCTATGTATACGTAT GTATACAGATATGTATACGTATGTATACACCT	C2orf80	ENSG00000188674.11	transcript	ENST00000341287.9	protein_coding	6/8			chr2	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(653): Show ATATATATATAATTATATATACAATTTTATATATATATAATTATATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATATAATTATATATATTATATAA TTTTATATATATAATTATATATATTATATAATTATATATATAATTTTATA TATATATAATTATATATACAATTTTATAATATATATAATTATATATACAA TTATATATATATATAATTATATATATATAATTGTATATATAATTTTATAT ATATAATTATATATAATTTTATATATATATAATTATATATATAATTATAT ATATATAATTATATATATTTATATATATATATAATTATATATATAATTTT ATATATATAATTTTATATAATTTTATATATAATTATATATATAATTTTAT ATATATAATTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18970.hp2 NA18983.hp1 others(1): Show HG02040.hp1 NA18970.hp2 NA18983.hp1 NA18989.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0049 a0003c0003t0001g0062 a0003c0003t0001g0176 others(1): Show a0003c0003t0001g0049 a0003c0003t0001g0062 a0003c0003t0001g0176 a0003c0003t0001g0179	4	252	0.0159	660	c.907 others(675): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATAATATATATAATTATATATATATAAAATTA TATATATAATTATATATAAAATTATATATATAATTATATATAAAATTATA TATATAATTATATATAAAATTATATATATAATTATATATAAAATTATATA TATAATTATATATAAAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATATAATTATATATA TATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAMKK2_chr12_121232692_121301709	121255344	A A	ATATATAT others(653): Show ATATATATATAATTATATATACAATTTTATATATATATAATTTTATATAT ATAATTATATATATAATTTTATATATATATAATTATATATATAATTTTAT ATATATAATTATATATATAATTTTATATATATATAATTATATATATAATT TTATATATATATAATTTTATATATAATTATATATATAATTTTATATATAA TTATATATATAATTTTATATATAATTATATATATAATTTTATATATAATT ATATATATAATTTTATATATAATTATATATATAATTTTATATATATATAA TTATATATATTATATAATTTTATATATATATAATTATATATATTATATAA TTTTATATATATAATTATATATATTATATAATTATATATATAATTTTATA TATATATAATTATATATACAATTTTATAATATATATAATTATATATACAA TTATATATATATATAATTATATATATATAATTGTATATATAATTTTATAT ATATAATTATATATAATTTTATATATATATAATTATATATATAATTATAT ATATATAATTATATATATTTATATATATATATAATTATATATATAATTTT ATATATATAATTTTATATAATTTTATATATAATTATATATATAATTTTAT ATATATAATTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0063 a0003c0003t0001g0063	1	249	0.0040	660	c.907 others(675): Show c.907+205_907+206insAAATTATATATATAAAATTATATATATAAT TATATATAAAATTATATAAAATTATATATATAAAATTATATATATAATTA TATATATATATAAATATATATAATTATATATATATAATTATATATATAAT TATATATATATAAAATTATATATAATTATATATATAAAATTATATATACA ATTATATATATATAATTATATATATATATAATTGTATATATAATTATATA TATTATAAAATTGTATATATAATTATATATATATAAAATTATATATATAA TTATATAATATATATAATTATATATATAAAATTATATAATATATATAATT ATATATATATAAAATTATATAATATATATAATTATATATATATAAAATTA TATATATAATTATATATAAAATTATATATATAATTATATATAAAATTATA TATATAATTATATATAAAATTATATATATAATTATATATAAAATTATATA TATAATTATATATAAAATTATATATATATAAAATTATATATATAATTATA TATATATAAAATTATATATATAATTATATATATAAAATTATATATATAAT TATATATATATAAAATTATATATATAATTATATATATAAAATTATATATA TATAAAATTGTATATATAATTATATATATA	CAMKK2	ENSG00000110931.19	transcript	ENST00000404169.8	protein_coding	9/16			chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(653): Show TCACACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC TCACATACAGACACAACCACACCACACACACACACACACACTCACATACA GACACAACCACACCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACACT CACATACAGACACAACCACACCACACACACACACACTCACATACAGACAC AACCACACCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACATATACACACTCACATAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	421	0.0024	660	c.193 others(677): Show c.1938+598_1938+599insCACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACTCACATACAGACACAACCACACCACACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACACTCACATACAGACACAACCACACCACACACACACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACATATACACACTCACATAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181908	T T	TCACACAC others(653): Show TCACACACACACACTCACATACAGACACAACCACACCACACTCACACACA CACATACACACTCACATACAGACACAACCACACCACACACACACACACTC ACATACAGACACAACCACACCACACACACACACACACACACTCACATACA GACACAACCACACCACACACACACACACTCACATACAGACACAACCACAC CACACTCACACACACACACTCACATACAGACACAACCACACCACACTCAC ACATACACACTCACATACAGACACAACCACACCACACACACACACACTCA CATACAGACACAACCACACCACACACACACACACACTCACATACAGACAC AACCACACCACACACACACATACACACTCACATACAGACACAACCACACC ACACACACACACATACACACTCACATAGACACAACCACACCACACTCACA CACACACATACACACTCACATACAGACACAACCACACCACACACACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACACACA CTCACATACAGACACAACCACACCACACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	421	0.0024	660	c.193 others(677): Show c.1938+598_1938+599insCACTCACATACAGACACAACCACACCAC ACTCACACACACACATACACACTCACATACAGACACAACCACACCACACA CACACACACTCACATACAGACACAACCACACCACACACACACACACACAC ACTCACATACAGACACAACCACACCACACACACACACACTCACATACAGA CACAACCACACCACACTCACACACACACACTCACATACAGACACAACCAC ACCACACTCACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACTCACATACAGACACAACCACACCACACACACACACACACTCA CATACAGACACAACCACACCACACACACACATACACACTCACATACAGAC ACAACCACACCACACACACACACATACACACTCACATAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACACACACACACACACACTCACATACAGACACAACCACACCACACTCAC ACACACACACACTCACATACAGACACAACCACACCACACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CCDC63_chr12_110841987_110912535	110905890	A A	AATATTAT others(653): Show AATATTATATATAATATATATTATATTATATATAATATATATTATATATA ATATATATTATATAAAATATATATTATATTATATATAATATATATTATAT AAAATATATATTATATATAATATATATTATATAAAATATATATTATATTA TATAATATATATTATATAAAATATATATTATATTATATAATATATATTAT ATAAAATATATATTATATTATATATAATATATATTATAATATAATATATA TTATATATAATATATATTATATATAATATAATATATATTTTATAAAATAT ATATTATATATAATATAATATATATTTTATATAATATATATTATATATAA TATAATATATATTTTATATAATATATATTATATAATATAATATATATTTT ATATAATATATATTATATATAATATAATATATATTTTATAAAATATATAT TTTATATAATATATATTATATAATATAATATATATTTTATATAATATATA TTATATATAATATATATTTTATATAATATATATTATATAATATAATATAT ATTATTATATAATATATTATTATAATATATAATATATATTATATTATATA ATATATAATATAATAATATAATATATATTTTATAAAATATATATTATATT ATATATAATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0190 a0011c0018t0002g0190	1	278	0.0036	660	c.154 others(679): Show c.1546+1146_1546+1147insTAATATATATTATATAAAATATATAT TATATTATATATAATATATATTATATAAAATATATATTATATATAATATA TATTATATAAAATATATATTATATTATATAATATATATTATATAAAATAT ATATTATATTATATAATATATATTATATAAAATATATATTATATTATATA TAATATATATTATAATATAATATATATTATATATAATATATATTATATAT AATATAATATATATTTTATAAAATATATATTATATATAATATAATATATA TTTTATATAATATATATTATATATAATATAATATATATTTTATATAATAT ATATTATATAATATAATATATATTTTATATAATATATATTATATATAATA TAATATATATTTTATAAAATATATATTTTATATAATATATATTATATAAT ATAATATATATTTTATATAATATATATTATATATAATATATATTTTATAT AATATATATTATATAATATAATATATATTATTATATAATATATTATTATA ATATATAATATATATTATATTATATAATATATAATATAATAATATAATAT ATATTTTATAAAATATATATTATATTATATATAATATATATTATATATAA TATATATTATATTATATATAATATATATTATATA	CCDC63	ENSG00000173093.13	transcript	ENST00000308208.10	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
CECR2_chr22_17364460_17563151	17524554	G G	GGCTAATT others(653): Show GGCTAATTTTTTGTATTGTTAGTAGAGACGGGGTTTCACCGTGTTAGCCA GGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCTCCCAA AGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTTTTCTG TTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTTTCTTA GATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATAACAGA TCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATAAGTGT ATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGATTTGGC TTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTGGCTAA GAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAAAGTTA CTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGGCTGGA GTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGGTTCTC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCAC TACCACGCCCA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01952.hp1 HG02965.hp1 others(3): Show HG00609.hp2 HG01952.hp1 HG02965.hp1 HG03225.hp2 NA19011.hp1 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0021 a0001c0009t0028 a0002c0002t0001 others(1): Show a0001c0009t0021 a0001c0009t0028 a0002c0002t0001 a0002c0002t0002	a0001c0009t0021g0273 a0001c0009t0028g0195 a0002c0002t0001g0162 others(3): Show a0001c0009t0021g0273 a0001c0009t0028g0195 a0002c0002t0001g0162 a0002c0002t0001g0173 a0002c0002t0001g0184 a0002c0002t0002g0036	6	90	0.0667	660	c.110 others(677): Show c.1108+299_1108+300insGTTAGTAGAGACGGGGTTTCACCGTGTT AGCCAGGATGATCTAGAACTCCTGACCTTGTGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCACTTTTT TTCTGTTTAGAGTTCTGCAAGCAAAGGATAATAACTGTCTTTAGATGTTT TCTTAGATAACAATTGTATTTATAAGTTCAACCTGATAAATCATGTGATA ACAGATCACTTGGTGTAATTGAAGATAGTCCAAGATTTACCTTTTAAATA AGTGTATTGAATATTTTTAATTTTTCAATACAACAGCATAGCATATGGAT TTGGCTTTTTGAATGCAGTGTTTTGCAGGGCAAGATTTCAGTAAATTTTG GCTAAGAAAATTGAAGTATTCTGGCCTTATGTACCTATTAAGTAACAGAA AGTTACTTAACCTATTATGTGCACCTCATTCCTACCAAGATCTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACTCCGTCTCGGTTTGTCGCCCAGG CTGGAGTGCAGTGGCACGATCTCGTCTCACTGCAAGCTCCGCATCCCGGG TTCTCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCA CCCACTACCACGCCCAGCTAATTTTTTGTATT	CECR2	ENSG00000099954.19	transcript	ENST00000262608.13	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
CFAP46_chr10_132803392_132947570	132914022	C C	CCCCCGGC others(653): Show CCCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTG TGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCA CCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGT GTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCAC CCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTG TCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACC CCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGT CCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCC CGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTC CAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCC GGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCC AGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCG CCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	226	0.0044	660	c.212 others(677): Show c.2121-765_2121-764insTGCAGTGTGGCTGGACACAGCCTCGGGC CGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGGGGTGCAGTGTGGCT GGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCC GGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTG GACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCG GGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGG ACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGGCGG GGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGA CACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGG GTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGAC ACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGG TGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACA CAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGT GCAGTGTGGCTGGACACAGCCTCGGGCCGGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP46_chr10_132803392_132947570	132914259	G G	GCCCGAGG others(653): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAG CCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCC CGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCC ACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCC GAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCA CACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCG AGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCAC ACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGA GGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACA CTGCACCCCGC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0015 a0015	a0015c0022 a0015c0022	a0015c0022t0001 a0015c0022t0001	a0015c0022t0001g0212 a0015c0022t0001g0212	1	231	0.0043	660	c.212 others(679): Show c.2121-1002_2121-1001insGCGGGGTGCAGTGTGGCTGGACACAG CCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCA GTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGC CTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAG TGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCC TCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGT GTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCT CGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTG TGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTC GGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGT GGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCG GGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGGCCGGGGTGCAGTGTG GCTGGACACAGCCTCGGGCCGGGGTGCAGTGTGGCTGGACACAGCCTCGG GCCGGGGTGCAGTGTGGCTGGACACAGCCTCGGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
COL22A1_chr8_138583235_138919041	138742284	T T	TGGTGATG others(653): Show TGGTGATGGTGGTAGTGATTGTGATGGTGATGGTGGAGTTGATGGTGATG GTGCTAGTGATCGTGATGGTGATGGTGGAGTTGATGGTGATGATGATGGT AGAGTTGATGATGATGGTAGTAGTGATTGTGATGGTGGAGTTGATGGTGA TGGTAGAGTTGATGATGGTACTAGTGATTGTGATGGTGATGGTGGAGTTG ATGGTGATGGTGATGGTAGAGTTGATGATGATGGTAGTAGTGATTGTGAT GGTGGAGTTGATGAGGGTGATGGTGGTAGTGATAGTGATGATGATGGTGG AGTTGATGGTGATGGTGATGGTGGAGTTGAGGGTGATGGTGGTAGTGATT GTGATGGTGATGGTGGAGTTGATGGTGATGGTGCTAGTGATCGTGATGGT GATGGTGGAGTTGATGGTGATGATGATGGTAGAGTTGATGATGATGGTAG TAGTGATTGTGATGGTGGAGTTGATGGTGATGGTAGAGTTGATGATGGTA CTAGTGATTGTGATGGTGATGGTGGAGTTGATGGTGATGGTGATGGTAGA GTTGATGATGATGGTAGTAGTGATTGTGATGGTGGAGTTGATGAGGGTGA TGGTGGTAGTGATAGTGATGATGATGGTGGAGTTGATGGTGATGGTGATG GTGGAGTTGAG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	60	0.0167	660	c.208 others(679): Show c.2086-4708_2086-4707insCTCAACTCCACCATCACCATCACCAT CAACTCCACCATCATCATCACTATCACTACCACCATCACCCTCATCAACT CCACCATCACAATCACTACTACCATCATCATCAACTCTACCATCACCATC ACCATCAACTCCACCATCACCATCACAATCACTAGTACCATCATCAACTC TACCATCACCATCAACTCCACCATCACAATCACTACTACCATCATCATCA ACTCTACCATCATCATCACCATCAACTCCACCATCACCATCACGATCACT AGCACCATCACCATCAACTCCACCATCACCATCACAATCACTACCACCAT CACCCTCAACTCCACCATCACCATCACCATCAACTCCACCATCATCATCA CTATCACTACCACCATCACCCTCATCAACTCCACCATCACAATCACTACT ACCATCATCATCAACTCTACCATCACCATCACCATCAACTCCACCATCAC CATCACAATCACTAGTACCATCATCAACTCTACCATCACCATCAACTCCA CCATCACAATCACTACTACCATCATCATCAACTCTACCATCATCATCACC ATCAACTCCACCATCACCATCACGATCACTAGCACCATCACCATCAACTC CACCATCACCATCACAATCACTACCACCATCACC	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	22/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178525250	A A	AGGACCCG others(653): Show AGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGG CGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTCACATGGCTGG TAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAAGGCTAAGCTC ACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCCGGGACCCGAA GGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCGCGCAGACCCC GGGACCCGAAGGCTAAGCTCACATGGCTGGTAAGAAATGGCGACACAGCG CGCAGACCCCG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02486.hp2 NA20805.hp1 HG01943.hp1 HG02486.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0005t0001 a0002c0002t0001 a0001c0001t0004 a0001c0005t0001 a0002c0002t0001	a0001c0001t0004g0088 a0001c0005t0001g0042 a0002c0002t0001g0031 a0001c0001t0004g0088 a0001c0005t0001g0042 a0002c0002t0001g0031	3	175	0.0171	660	c.361 others(679): Show c.361+35431_361+35432insCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTG TGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCCCGGGGT CTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCTTAGCCTTCGG GTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGCCATGTGAGCT TAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATTTCTTACCAGC CATGTGAGCTTAGCCTTCGGGTCCCGGGGTCTGCGCGCTGTGTCGCCATT TCTTACCAGCCATGTGAGCTTAGCCTTCGGGTCC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
CPNE4_chr3_131528569_132040014	131978386	T T	TTATATAT others(653): Show TTATATATATATATTTATATATTTATATATATTTATATATATATTTATAT ATTTATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATTTATATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT ATTTATATATTTATATATATTTATATATATTTATATATATATTTATATAT TTATATATATTTATATATATTTATATATATATTTATATATTTATATATAT TTATATATATTTATATATATATTTATATATTTATATATATTTATATATAT TTATATATATATTTATATATATTTATATATATATTTATATATATTTATAT ATATTTATATATATATTTATATATATTTATATATATTTATATATATATTT ATATATATTTATATATATATTTATATATATTTATATATATATTTATATAT ATTTATATATATATTTATATATATTTATATATATATTTATATATATTTAT ATATATATTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	29	0.0345	660	c.-2+ others(677): Show c.-2+56180_-2+56181insTAAATATATATATAAATATATATAAATA TATATATAAATATATATAAATATATATATAAATATATATAAATATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATAAATATATATAAATATATATATAAATATATATAAATATATATAAA TATATATATAAATATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATATAAATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATAAATATATATA TAAATATATATAAATATATATAAATATATAAATATATATATAAATATATA TAAATATATATAAATATATAAATATATATATAAATATATATAAATATATA TAAATATATAAATATATATATAAATATATATAAATATATATAAATATATA AATATATATATAAATATATATAAATATATAAATATATAAATATATATATA AATATATATAAATATATAAATATATATATATA	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(653): Show TCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCC CTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTA CAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACA ACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGGTGGAACCC TACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGA GTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTACCCATGAC CCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTAC CCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAGT CTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCC CTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTC AGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAA CCCTACAGTCC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0135 a0001c0002t0005g0135	1	54	0.0185	660	c.811 others(677): Show c.811-1792_811-1791insCCTGGCGGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCT ACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAG TAACCCTACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCC TACTCACAACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACCCCTGG TGGAACCCTACAGTCCCCTACTCACGACCCCTACAGTCTCCTACTCATGA CCCCTGGAGTAACCCTACAGTCCCCTACTCACGACCCCTACACTCTCCTA CCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACAC TCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACC CCTACAGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACT CACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTC CCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCC CGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP4F11_chr19_15907377_15939529	15933012	A A	ATGAGTGA others(653): Show ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGCAGAGGA ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0152 a0001c0002t0007g0152	1	367	0.0027	660	c.198 others(677): Show c.198+1198_198+1199insCTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTG CCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTC CCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACT CACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCATTCCTCTG CCCGCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTGCCCGCTCACT CATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTG CCCGCTCACTCATTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933412	A A	ATGAGTGA others(653): Show ATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGC GGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGA ATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0180 a0002c0001t0006g0180	1	375	0.0027	660	c.198 others(675): Show c.198+798_198+799insCTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTCCC CGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCA TTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTGCC CGCTCACTCATTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933492	A A	ATGAGTGA others(653): Show ATGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGA GTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGC GGGCAGAGGAGTGAGTGAGCGGGCAGAGGAGTGAGTGAGCGGGGAGAGGA GTGAGTGAGCGGGGAGAGGAGTGAGTGAGCGGGGAGAGGAGTGAGTGAGC GGGGAGAGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0190 a0002c0001t0019g0190	1	381	0.0026	660	c.198 others(675): Show c.198+718_198+719insCTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCC CGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCA CTCCTCTCCCCGCTCACTCACTCCTCTCCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCA CTCCTCTGCCCGCTCACTCACTCCTCTGCCCGCTCACTCACTCCTCTGCC CGCTCACTCACTCCTCTGCCCGCTCACTCA	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933981	C C	CGAGGAGA others(653): Show CGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGCAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG CGGGGAGAGGAATGAGTGAGCGGGCAGAGGAATGAGTGAGCGGGGAGAGG AATGAGTGAGCGGGGAGAGGAATGAGTGAGCGGGGAGAGGAATGAGTGAG CGAGGAGAAGAATGAGTGAGCGAGGAGAGGAGTGAGTGAGCGGGGAGAGG AATGAGTGAGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0300 a0001c0002t0008g0300	1	310	0.0032	660	c.198 others(675): Show c.198+229_198+230insACTCACTCATTCCTCTCCCCGCTCACTCAC TCCTCTCCTCGCTCACTCATTCTTCTCCTCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTCGCTCACTCAT TCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCTC GCTCACTCATTCCTCTGCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCTCCCC GCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCCCCGCTCACTCAT TCCTCTCCCCGCTCACTCATTCCTCTCCTC	CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11			chr19	TogoVar

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