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
IFNAR1_chr21_33319970_33364864	33323138	T T	TATATATG others(648): Show TATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTAT GGAATATATATATGGAATATATACGTATGGAATATATATATGGAATATAT ACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATATG GAATATACGTATGGAATATATATATATGGAATATACGTATGGAATATATA TATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATGTATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATATGGAATATATATG TATGGAATATACATATGGAATATATATGTTTGGAATATATATATATGGAA TATATATGTATGGAATATATATATATGGAATATATGTATGGAATATATAT ATGGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATAT ATATATATGGAATATATGTATGGAATATATATATGGAATATATGTATGGA ATATATATATGGAATATATGTATATGGAATATATATATGGAATATATATA TATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	323	0.0031	655	c.-19 others(666): Show c.-1918_-1917insATATATGGAATATATACGTATGGAATATATATAT GGAATATATACGTATGGAATATATATATGGAATATATACGTATGGAATAT ATATATGGAATATATACGTATGGAATATATATATATGGAATATACGTATG GAATATATATATATGGAATATACGTATGGAATATATATATATGGAATATA CGTATGGAATATATATATATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TATGGAATATATATGTATGGAATATACATATGGAATATATATGTTTGGAA TATATATATATGGAATATATATGTATGGAATATATATATATGGAATATAT GTATGGAATATATATATGGAATATATGTATGGAATATATATATATGGAAT ATATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATG GAATATATGTATGGAATATATATATGGAATATATGTATATGGAATATATA TATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1831		chr21	TogoVar
INSR_chr19_7107265_7299414	7153357	A A	ACACCACA others(648): Show ACACCACACACCCCACACACACCACACACCACACACACCAAACACACCAT ACATGCACCACACACACACCACATGCACACCTCACACACCATACCACACA CCACACACACCACACAAATCACACACATACTACACACACCAACGCCACAC ACCACACACACACCACACATGCCACACAACGGACCACACATACACCACAC ACCACAAACACAACCACACACACACTATACACACACACCACACACACCAC ACAACAGACCACACATACACACACCACACACCACACACACCATACACACA CACCACACATACCACACACACCACACACACAACCACACACACACCACACA CACAACACACAACAGACCACACATACACACACCACACATACCACACACAC ACCACACATACCACACACACACCACACACACAACCACACACACCACACCA TACACACAACCACACACACACCATACACGCACCACACACACACCACATAC ACACTTCACACACACCACACACCACACAAATCACACACACCACCACACCC ACGCCACACACCACACACACACCACACACGCACCACACACACACACCACA TACACACTTCACACACACCACACACCACACAAATCACACACACCACCACA CCCACG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02257.hp2 others(7): Show HG01109.hp2 HG01884.hp2 HG02257.hp2 HG02647.hp2 HG02895.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0006 a0001c0012 a0001c0025 others(4): Show a0001c0006 a0001c0012 a0001c0025 a0001c0028 a0001c0041 a0001c0051 a0001c0059	a0001c0006t0065 a0001c0012t0077 a0001c0012t0105 others(7): Show a0001c0006t0065 a0001c0012t0077 a0001c0012t0105 a0001c0012t0112 a0001c0025t0002 a0001c0028t0082 a0001c0028t0164 a0001c0041t0007 a0001c0051t0026 a0001c0059t0123	a0001c0006t0065g0011 a0001c0012t0077g0088 a0001c0012t0105g0183 others(7): Show a0001c0006t0065g0011 a0001c0012t0077g0088 a0001c0012t0105g0183 a0001c0012t0112g0145 a0001c0025t0002g0024 a0001c0028t0082g0115 a0001c0028t0164g0294 a0001c0041t0007g0265 a0001c0051t0026g0080 a0001c0059t0123g0114	10	300	0.0333	655	c.203 others(672): Show c.2030-431_2030-430insCGTGGGTGTGGTGGTGTGTGTGATTTGT GTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGTGGTGCG TGTGTGGTGTGTGTGTGGTGTGTGGCGTGGGTGTGGTGGTGTGTGTGATT TGTGTGGTGTGTGGTGTGTGTGAAGTGTGTATGTGGTGTGTGTGTGGTGC GTGTATGGTGTGTGTGTGGTTGTGTGTATGGTGTGGTGTGTGTGGTTGTG TGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGTGGTATGTGTGGTGT GTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTGTGGTTGT GTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTGTGTGTGGTG TGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGTGTGGTGTGTGTGT ATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGTATGTGTGGTCCGT TGTGTGGCATGTGTGGTGTGTGTGTGGTGTGTGGCGTTGGTGTGTGTAGT ATGTGTGTGATTTGTGTGGTGTGTGTGGTGTGTGGTATGGTGTGTGAGGT GTGCATGTGGTGTGTGTGTGGTGCATGTATGGTGTGTTTGGTGTGTGTGG TGTGTGGTGTGTGTGGGGTGTGTGGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(648): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCTCACAGCCAC CCCCCCACAGCCACCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCCCA CAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACA GCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCC ACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCC CCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCC GCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCA GCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCC ACAGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	312	0.0032	655	c.-41 others(670): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCTCACAGCCA CCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCTCACAGCCACCCCCCC ACAGCCACCCCCCTCCACAGCCACCCCCCCCACAGCCGCCCCCCACAGCC ACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCAC AGCCACCCCCCACAGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCGCCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGC CGCCCCCCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGC AGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCC CACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KREMEN1_chr22_29068035_29151820	29120078	A A	AGGAAACA others(648): Show AGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGA GGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAG GGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGG AGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATG GAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGT GATGAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0232 a0002c0003t0003g0232	1	368	0.0027	655	c.353 others(672): Show c.353-1274_353-1273insCAGGGAGGAGGGAGAGGTGATGAAGGAA ACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAG GTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGG AGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGAT GAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAAC AGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAT GGAAACAGGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAG GTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAG GGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACA GGGAGGAGGGAGAGGTGATGATGGAAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHFPL3_chr7_104323603_104913561	104824186	T T	TATATATA others(648): Show TATATATATTATATATTATATATTATATATATAATATATATATTATATAT TATATATATAATATATATATTATATATTATATATATAATATATATTATAT ATTATATATAATATATTATATATTATATATTATATATATAATATATTATA TATTATATATTATATATATATTATATTATATATTATATATAATTATATAT ATTTTATATATTATATATTATATATTATATATTATATATTATATATATTA TATATTATATATTATATATATTATATATTATATATTATATATTATATATA TTATATATTATATATACAATTATATATATTATATATATTATATATTATAT AATATATTATATATATAATATATATTATATATTATATATTATATAATATA TTATATATATAATATATTATATATTATATATTATATAATATATTATATAT TATATATATTATATATTATATATTATATATTATATATATAATATATATTA TATTATATATATTATATATATTATATATATTATATATAATATATATAATT GTATATATAATATATAATATATAATATATATAATATATAATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	86	0.0116	655	c.683 others(674): Show c.683-81995_683-81994insATTATATATTATATATTATATATATA ATATATATATTATATATTATATATATAATATATATATTATATATTATATA TATAATATATATTATATATTATATATAATATATTATATATTATATATTAT ATATATAATATATTATATATTATATATTATATATATATTATATTATATAT TATATATAATTATATATATTTTATATATTATATATTATATATTATATATT ATATATTATATATATTATATATTATATATTATATATATTATATATTATAT ATTATATATTATATATATTATATATTATATATACAATTATATATATTATA TATATTATATATTATATAATATATTATATATATAATATATATTATATATT ATATATTATATAATATATTATATATATAATATATTATATATTATATATTA TATAATATATTATATATTATATATATTATATATTATATATTATATATTAT ATATATAATATATATTATATTATATATATTATATATATTATATATATTAT ATATAATATATATAATTGTATATATAATATATAATATATAATATATATAA TATATAATATATAATATATAATATATAATATATATAATATATTATATATA ATATATAATATATAATATATATAATATAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
MLPH_chr2_237482251_237560322	237544549	A A	ATGGTGAG others(648): Show ATGGTGAGTGGGCACGGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGG GACAGTGGTGAGTGGGGACATTGGTGAGTGGGGGGACAGTGGTGAGTGGA GGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTG AGTGGGCACGGTAGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTG AGTTGGGGGACAGTGGTGAGTGGGTGCACGGTAGTGAGTCGGGGGACAGT GGTGAGTGGGGGAACAGTGGTGAGTGGGGGACAGTAGTGAGTGGGGGACA GTGGTGAGTGGGGGCACAGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGA CAGTGGTGAGTGGGGGCACGGTAGTGACTGGGGCGACAGTGGTGAGTGGG GGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTG GGCACGGTAGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTGGTGA GTGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACAGTGGTG AGTGGG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0017 a0017	a0017c0021 a0017c0021	a0017c0021t0002 a0017c0021t0002	a0017c0021t0002g0050 a0017c0021t0002g0050	1	286	0.0035	655	c.153 others(674): Show c.1539+1890_1539+1891insTGGTGAGTGGGCACGGTGGTGAGTGG AGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGACATTGGTGA GTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGGGGACAG TGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGAC AGTGGTGAGTGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGCAC AGTGGTGAGTGGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGTGC ACGGTAGTGAGTCGGGGGACAGTGGTGAGTGGGGGAACAGTGGTGAGTGG GGGACAGTAGTGAGTGGGGGACAGTGGTGAGTGGGGGCACAGTGGTGAGT GGGGACAGTGGTGAGTTGGGGGACAGTGGTGAGTGGGGGCACGGTAGTGA CTGGGGCGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGG TGAGTGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGCACGGT AGTGAGTGGGGGGACAGTGGTGAGTGGGGGACAGTGGTGAGTGGGGGACA GTGGTGAGTGGGGGACAGTGGTGAGTGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(648): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCG CGTCCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCACAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCC AGAGCCCCTCAGTCCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCC CCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAG TCCCTCCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCGAGTCCC TCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCC ACAGAGCCCGAGTCCGTCCCCACAGAGCCCCCACTCCCCTCCCCACAGAG CCCCCAAGTCCGTCCCCCACAGGCCCCCAGTCCCCTCCCCACAGAGCCCC CCAGTCCCCCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGT CCCTCCCCACAGAGCCCCCGAGTCTGTCCCCCACAGGCCCCACTGGACAC CAGGCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	324	0.0031	655	c.140 others(672): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG GACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGG GACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGGACT GGGGGCCTGTGGGGGACGGACTTGGGGGCTCTGTGGGGAGGGGAGTGGGG GCTCTGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTG TGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGCTCTGTGGGGA GGGACTGGGGGGCTCTGTGGGGGAGGGACTGGGGGGCTCTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCG GGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGG CTCTGTGGGGAGGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTG TGGGGAGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGTGGGGGACGCGACTCGGGGGCTCTGTGGGGA GGGACTGGGGGGCTCTGTGGGGGAGGGACTGGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	841585	C C	CGGGCGAG others(648): Show CGGGCGAGCAGGTCCTCCCTGACCACGGCGCATCTCACACGGGCGAGCAG GTCCTCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGA CCACGGCGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACAGCGCAT CTCACACCCGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCGACCACGGA GCATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGAGCATCTCACACG GGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCGAGCAGGTC CCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCGACCAC GGCGCATCTCACACCCACGGGCAGGTCCCCCCGACCACGGCGCATCTCAC ACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACGCCGGCGAGCA GGTCCACCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCCCCCGA CCACGGCGCATCTCACATGGGCGAGCAGGTCCCCCCGACCACGGCGCATC TCACAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	242	0.0041	655	c.361 others(674): Show c.361-15508_361-15507insATGTGAGATGCGCCGTGGTCGGGGGG ACCTGCTCGCCCATGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCC GTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGCCGGCGTGAGATGC GCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGG GGGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTC GCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAG ATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGT CGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGGGGACCTG CTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGT GAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCC CGTGTGAGATGCGCCGTGGTCAGGGAGGACCTGCTCGCCCGTGTGAGATG CGCCGTGGTCAGGGAGGACCTGCTCGCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OR2T1_chr1_248398048_248413020	248404195	C C	CGTGTGTG others(648): Show CGTGTGTGTGCGTGTGTATAAAATGGGAGTAACCGTGAACAGACAGCAGA GGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAA CAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTATAAAATGGGA GTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATACGTGTGTGTGT ATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCTATTACATATA CGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGCCGC TATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAGC AGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTGTGTGTGTGTC TGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCAGAGGCTATTA CATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAGACAGCAGAGG CTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGA GAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAATGGGAGTAACC GTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGTGTGTGTGTGT GTGTGT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	266	0.0038	655	c.-34 others(670): Show c.-34+959_-34+960insCGTGTGTATAAAATGGGAGTAACCGTGAAC AGACAGCAGAGGCTGCTATTACATATACGTGTGTGTGTATAAAATGGGAG TAAGCGTGAACAGAGAGCAGAGGACGCTATTACATATACGTGTGTGTGTA TAAAATGGGAGTAAGCGTGAACAGACAGCAGAGGGCCCTATTACATATAC GTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGAGAGCAGAGGGCGCT ATTACATATACGTGTGTGTGTATAAAATGGGAGTAAGCGTGAACAGACAG CAGAGGCCGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGCGTG AACAGACAGCAGAGGGCGCTATTACATATATATGTTTGTGTGTGTTTGTG TGTGTGTGTCTGTGTGTGTATAAAATGGGAGTAAGGGTGAACAGACAGCA GAGGCTATTACATATATGTGTGTGTATAAAATGGGAGTAAGTGTGAACAG ACAGCAGAGGCTGCTATTACATACGTGTGTGTGTATAAAATGGGAGTAAG CGTGAACAGAGAGCAGAGGGCGCTATTACACATACGTGTGTGTATAAAAT GGGAGTAACCGTGAACAGACAGCAGAGGCCGCTATTACATATATGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTG	OR2T1	ENSG00000175143.5	transcript	ENST00000642005.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
PCSK6_chr15_101298933_101494707	101311897	C C	CCACCCCA others(648): Show CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC CCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACAGC TCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACAG CTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCTCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCACA GCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACACCCTCAC AGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCAC AGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCAC AGCTCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCACCCCTCAC AGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTCACACCCTC ACAGCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	336	0.0030	655	c.269 others(674): Show c.2699+1478_2699+1479insAGCTGTGAGGGTGTGACGATGGGGTG GGCTGTGAGGGTGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGT GGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGGT GGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGGT GGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGGG TGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGGGG TGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGG TGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGG TGAGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGGGG TGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGTGTGACGATGGG GTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGTGTGACGATGG GGTGGGCTGTGAGGGGTGACGATGGGGTGAGCTGTGAGGGGTGACGATGG GGTGGGCTGTGAGGGGTGACGATGGGGTGGGCTGTGAGGGGTGACGATGG GGTGGGCTGTGAGGGGTGACGATGGGGTG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PIGN_chr18_62036164_62192056	62039893	T T	TCATGTTT others(648): Show TCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCCA TCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCC CATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCAT CCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATGCCGCACCCC ATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAGGGCCCAGCC AGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCAT GTTTAGGGCCCCATCCAGGGTGCCGCACATCATGTTTAGGGCCCCATCCA GAGTGCCGCACCCCATGATTAGGGCCCATTCAGGGTGCCGCACCCCATGT TTAGGGCCCATCCAGGGTGCCGCACCCCATGTTTAGGGCCCCATCCAGGG TGCCGCACATCATGTTTAGGGCCCCATCCAGGGTGCCGCACCCCATGTTT AGGGCCCATCCAGAGTGCCGCACCCCATGTTTAGGGCCCCATCGACGATG CCGCACCCCATGTTTAGGGCCCCTTCCAGGGTGCCGCACCCCATGTTTAG GGCCCAGCCAGGGTGCCGCAACTCATGTTTAGGGCCCCTTCCAGGGTGCC GCACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0056 a0001c0003t0014g0056	1	342	0.0029	655	c.59 others(666): Show c.5962_*5963insGGGTGCGGCACCCTGGAAGGGGCCCTAAACATGA GTTGCGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCACCCTGGAAG GGGCCCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTAAACATGGGG TGCGGCACTCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGG GCCCTAAACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTG CGGCACCCTGGATGGGCCCTAAACATGGGGTGCGGCACCCTGAATGGGCC CTAATCATGGGGTGCGGCACTCTGGATGGGGCCCTAAACATGATGTGCGG CACCCTGGATGGGGCCCTAAACATGGGGTGCGGCACCCTGGAAGGGGCCC TAAACATGAGTTGCGGCACCCTGGCTGGGCCCTAAACATGGGGTGCGGCA CCCTGGAAGGGGCCCTAAACATGGGGTGCGGCATCGTCGATGGGGCCCTA AACATGGGGTGCGGCACTCTGGATGGGGCCCTAAACATGGGGTGCGGCAC CCTGGATGGGGCCCTAAACATGGGGTGCGGCACCCTGGATGGGGCCCTAA ACATGATGTGCGGCACCCTGGATGGGGCCCTAAACATGGGGTGCGGCACC CTGGAAGGGGCCCTAAACATG	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding		1270		chr18	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(648): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTACTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCC TCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTC CTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTC CTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTC CTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCC TTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTT CTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCC TCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0018 a0002c0007t0018	a0002c0007t0018g0055 a0002c0007t0018g0055	1	218	0.0046	655	c.-50 others(666): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAG AGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGG GAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAG GAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGA AAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGA AAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGG AGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGTAAGAGGAGGAGG GGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(648): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCC TCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTC CTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTC CTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTC CTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCC TTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTT CTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCC TCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(69): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00621.hp2 HG01069.hp1 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02280.hp1 HG02280.hp2 HG02647.hp1 HG02723.hp1 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03209.hp2 HG03492.hp2 HG03540.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA19007.hp1 NA19007.hp2 NA19043.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0015 a0017 a0019	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0035 a0002c0004 a0002c0007 a0003c0008 a0003c0041 a0004c0012 a0005c0024 a0006c0034 a0015c0029 a0017c0020 a0019c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(50): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0050 a0001c0001t0060 a0001c0001t0085 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0058 a0001c0002t0062 a0001c0002t0073 a0001c0003t0030 a0001c0003t0032 a0001c0003t0033 a0001c0003t0077 a0001c0003t0098 a0001c0005t0002 a0001c0005t0009 a0001c0005t0012 a0001c0005t0016 a0001c0005t0054 a0001c0005t0064 a0001c0006t0006 a0001c0006t0027 a0001c0006t0031 a0001c0006t0035 a0001c0011t0019 a0001c0011t0068 a0001c0035t0003 a0002c0004t0008 a0002c0004t0025 a0002c0004t0038 a0002c0004t0043 a0002c0004t0044 a0002c0007t0008 a0002c0007t0018 a0002c0007t0067 a0002c0007t0089 a0003c0008t0001 a0003c0008t0002 a0003c0041t0020 a0004c0012t0026 a0005c0024t0016 a0006c0034t0065 a0015c0029t0066 a0017c0020t0099 a0019c0036t0003	a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0020 others(69): Show a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0002g0057 a0001c0001t0002g0071 a0001c0001t0005g0084 a0001c0001t0005g0092 a0001c0001t0006g0035 a0001c0001t0013g0027 a0001c0001t0021g0091 a0001c0001t0028g0078 a0001c0001t0029g0054 a0001c0001t0050g0065 a0001c0001t0060g0037 a0001c0001t0085g0076 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0104 a0001c0002t0002g0088 a0001c0002t0003g0047 a0001c0002t0003g0050 a0001c0002t0003g0061 a0001c0002t0058g0024 a0001c0002t0062g0036 a0001c0002t0073g0085 a0001c0003t0030g0069 a0001c0003t0032g0010 a0001c0003t0033g0030 a0001c0003t0077g0090 a0001c0003t0098g0009 a0001c0005t0002g0011 a0001c0005t0009g0013 a0001c0005t0009g0053 a0001c0005t0009g0083 a0001c0005t0012g0105 a0001c0005t0012g0107 a0001c0005t0016g0046 a0001c0005t0054g0014 a0001c0005t0064g0015 a0001c0006t0006g0022 a0001c0006t0006g0025 a0001c0006t0027g0026 a0001c0006t0027g0034 a0001c0006t0031g0023 a0001c0006t0035g0072 a0001c0011t0019g0031 a0001c0011t0068g0093 a0001c0035t0003g0019 a0002c0004t0008g0080 a0002c0004t0025g0052 a0002c0004t0025g0077 a0002c0004t0038g0033 a0002c0004t0043g0079 a0002c0004t0044g0081 a0002c0007t0008g0098 a0002c0007t0018g0007 a0002c0007t0067g0082 a0002c0007t0089g0074 a0003c0008t0001g0101 a0003c0008t0001g0102 a0003c0008t0002g0064 a0003c0008t0002g0089 a0003c0041t0020g0100 a0004c0012t0026g0075 a0005c0024t0016g0087 a0006c0034t0065g0012 a0015c0029t0066g0045 a0017c0020t0099g0086 a0019c0036t0003g0068	72	218	0.3303	655	c.-50 others(666): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAG AGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAGGAGGG GAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAG GAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGA AAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGA AAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGG AGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGG GGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561410	C C	CTCCTAGT others(648): Show CTCCTAGTCCTCCTCCTCCTCCCCTCCTCCTCTTCCTCCTCCTCCTTCTC ATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTCCTTCTCCTCCT CTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTT CTTCCTCCTCCTCCCCTCCTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTT CCTCCTCCTCCGCCCCCTCTTCCTCCTTCTCATCCTCCTTCCCTCCTCTT CCTCCTCTTCCTCCTCCTCCTCCCCTCTTCCTCCCCTCTTCCTCCCCTCC TCCTCCTCTTCCTCCTCCTTCTCTTTATTCTCCCCTCCTCCTCTTCCTCC TCCTCCTTCTCATTATCCTCCTTCTCATTCTCTCCCTTCTCCTCCTCTTC CTTCTCCTCCTCTTCTCCTCCTTCTTCTCCTTTTCCTCCTCCTTCTTCTC CTTTTCCTCCTCCTTCTCTTCTTCCTCTTCTTCTTCCTCCTCCTCCCCTC CTTTTCCTCCTCCTCCTCTTTCTTCTCCTCTTCCTCCTCCTCCGCCCCCC TTCCTCCTTCTCCTCATCCTCCTTCCCTCCTCTTCCTCCTTTTCCTCCTT CTCCTCCCCTCTTCCTCCTCTTCCTCCTCCTCCTCCCCTCCTCCTCTTCC TCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0005 a0005	a0005c0023 a0005c0023	a0005c0023t0003 a0005c0023t0003	a0005c0023t0003g0058 a0005c0023t0003g0058	1	218	0.0046	655	c.-50 others(666): Show c.-5005_-5004insAGGGGAGGAAGAGGAGGAGGGGAGGAGGAGGAGG AAGAGGAGGAAGAGGGGAGGAGAAGGAGGAAAAGGAGGAAGAGGAGGGAA GGAGGATGAGGAGAAGGAGGAAGGGGGGCGGAGGAGGAGGAAGAGGAGAA GAAAGAGGAGGAGGAGGAAAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGA AGAAGAGAAGGAGGAGGAAAAGGAGAAGAAGGAGGAGGAAAAGGAGAAGA AGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGGAGAGAATGAGA AGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGGGGAGAATAAAG AGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGGAAGAGGGGAGGAAGAGGG GAGGAGGAGGAGGAAGAGGAGGAAGAGGAGGGAAGGAGGATGAGAAGGAG GAAGAGGGGGCGGAGGAGGAGGAAGAGGAGAAGAAAGAGGAGGAGGAGGA AAAGGAGGGGAGGAGGAGGAAGAAGAAGAGGAAGAAGAGAAGGAGGAGGA AAAGGAGAAGAAGGAGGAGAAGAGGAGGAGAAGGAAGAGGAGGAGAAGGG AGAGAATGAGAAGGAGGATAATGAGAAGGAGGAGGAGGAAGAGGAGGAGG GGAGGAGGAGGAGGACTAGGA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4856		chr17	TogoVar
PPP2R2A_chr8_26286508_26377680	26310217	G G	GTTGCGGT others(648): Show GTTGCGGTGAGCCGAGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGG GCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAAC TTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGT AGTGCTGTGGCGCGATCTCACCTCACTGCAACCTCTGCCTCCTAGGTTCA AGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGA CCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTC ATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCC GCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTG ACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGG CTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATG AGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGG TGGAGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0268 a0001c0002t0001g0268	1	340	0.0029	655	c.82+ others(672): Show c.82+16481_82+16482insGGTGAGCCGAGATCGCGCCACTGCACTC CAAGCCTGGGCAACAGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTA GCAAGGTTGCTGCAAACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCAC TCTGTTGCCCAGGTTGTAGTGCTGTGGCGCGATCTCACCTCACTGCAACC TCTGCCTCCTAGGTTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGTGCTGACCACCACACCTGGCTAATTTTTTTTGTATGTTT AGTAGAGACGGGGCTTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGA CCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGC ATGAGCCCCTGCACCTGACGACAAACTTTCAATTTATAAAAAACACAGTG TCGGCCAGGCGCGGTGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCC GAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAT GGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTG GTGGCAGGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCATGAACCCGGGAGGTGGAGCTTGC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTAATTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG02723.hp1 others(6): Show HG01891.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03130.hp2 NA19030.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0003 a0001c0001t0007g0060 a0001c0001t0007g0061 others(4): Show a0001c0001t0007g0003 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0063 a0001c0001t0007g0064 a0001c0001t0007g0065	9	340	0.0265	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTAATTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCACCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	340	0.0029	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCACCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCACCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00733.hp1 HG00735.hp1 others(15): Show HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01243.hp1 HG01257.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02165.hp1 HG02622.hp1 HG02809.hp1 HG03453.hp2 HG03579.hp1 NA18522.hp2 NA19059.hp1 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0016 a0001c0001t0017 a0001c0002t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 others(15): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0264 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0016g0073 a0001c0001t0017g0071 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0265 a0001c0002t0001g0266	18	340	0.0529	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCACCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCGCAGGTGATCCGCCCGCCTCGGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01074.hp1 HG01981.hp2 others(2): Show HG00642.hp2 HG01074.hp1 HG01981.hp2 HG02683.hp2 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 others(2): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116	5	340	0.0147	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCGCAGGTGATCCG CCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00558.hp1 others(98): Show HG00408.hp1 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG01099.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp2 HG01361.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp2 NA18966.hp1 NA18968.hp2 NA18971.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp1 NA18988.hp2 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19064.hp2 NA19070.hp2 NA19072.hp2 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp2 NA19089.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(91): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0066 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0001g0310 a0001c0001t0002g0017 a0001c0001t0002g0035 a0001c0001t0002g0276 a0001c0001t0004g0008 a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0045 a0001c0001t0004g0052 a0001c0001t0004g0058 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0200 a0001c0001t0004g0251 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0005g0020 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0307 a0001c0001t0005g0308 a0001c0001t0005g0309 a0001c0001t0006g0010 a0001c0001t0006g0011 a0001c0001t0006g0027 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0048 a0001c0001t0006g0051 a0001c0001t0006g0053 a0001c0001t0009g0288 a0001c0001t0009g0289 a0001c0001t0009g0290 a0001c0001t0009g0291 a0001c0001t0009g0292 a0001c0001t0009g0293 a0001c0001t0013g0043 a0001c0001t0013g0047 a0001c0001t0018g0278 a0001c0001t0021g0280 a0001c0001t0022g0037 a0001c0002t0001g0275	101	340	0.2971	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGACAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	340	0.0029	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp2 others(137): Show HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01517.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp2 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18999.hp1 NA19001.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp2 NA19057.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp2 NA19067.hp2 NA19070.hp1 NA19075.hp2 NA19077.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019 a0001c0001t0020 a0001c0003t0002 a0001c0004t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 others(126): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0294 a0001c0001t0002g0001 a0001c0001t0002g0022 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0089 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0170 a0001c0001t0002g0175 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0301 a0001c0001t0004g0007 a0001c0001t0004g0014 a0001c0001t0004g0195 a0001c0001t0008g0015 a0001c0001t0008g0129 a0001c0001t0008g0162 a0001c0001t0008g0176 a0001c0001t0008g0199 a0001c0001t0012g0077 a0001c0001t0012g0078 a0001c0001t0019g0166 a0001c0001t0020g0122 a0001c0003t0002g0084 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0131 a0001c0003t0002g0149 a0001c0003t0002g0155 a0001c0003t0002g0177 a0001c0004t0001g0171	140	340	0.4118	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATCCAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02970.hp2 HG00738.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0079 a0001c0001t0004g0080	2	340	0.0059	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATCCAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCGGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCATGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	340	0.0029	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCATGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGCG ATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTGC CTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGGC TAATTTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCGAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01515.hp1 HG02129.hp1 others(3): Show HG00558.hp2 HG01515.hp1 HG02129.hp1 HG02132.hp1 HG03669.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0010 a0001c0001t0014	a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0207 others(3): Show a0001c0001t0010g0205 a0001c0001t0010g0206 a0001c0001t0010g0207 a0001c0001t0010g0208 a0001c0001t0014g0209 a0001c0001t0014g0210	6	340	0.0177	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGT TGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGGT TCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGC TGACCACCACACCTGGCTAATTTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCGAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGC GATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTG CCTCACCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGG CTAATTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0074 a0001c0001t0003g0074	1	340	0.0029	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGG TTGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGG TTCAAGTGATTCTTCTGCCTCACCCTCCCGAGTAGCTGGGATTACAGGTG CTGACCACCACACCTGGCTAATTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGC GATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTG CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGG CTAATTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00423.hp2 others(44): Show HG00280.hp1 HG00323.hp1 HG00423.hp2 HG00597.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02145.hp2 HG02300.hp1 HG02602.hp1 HG03491.hp2 HG03704.hp2 HG03710.hp1 NA18941.hp1 NA18943.hp2 NA18950.hp1 NA18962.hp1 NA18969.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18999.hp2 NA19001.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp2 NA19072.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0005t0003	a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0018 others(42): Show a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0018 a0001c0001t0003g0028 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0237 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0299 a0001c0001t0004g0018 a0001c0001t0005g0005 a0001c0001t0005g0006 a0001c0001t0005g0222 a0001c0001t0005g0231 a0001c0001t0011g0242 a0001c0001t0011g0243 a0001c0001t0011g0244 a0001c0001t0015g0224 a0001c0005t0003g0219	47	340	0.1382	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGG TTGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGG TTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTG CTGACCACCACACCTGGCTAATTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PPP2R2A_chr8_26286508_26377680	26310231	A A	AGATCGCG others(648): Show AGATCGCGCCACTGCACTCCAAGCCTGGGCAACAGGGCAAGACTCCATCT CAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCAAACTTACTTTTTTTTTT TTTTTGAGATGTAGTCCCACTCTGTTGCCCAGGTTGTAGTGCTGTGGCGC GATCTCGCCTCACTGCAACCTCTGCCTCCTAGGTTCAAGTGATTCTTCTG CCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTGACCACCACACCTGG CTAATTTTTTTGTATGTTTAGTAGAGACGGGGCTTCATCGTGTTGGCCAG GTTGGTCTCGAACTCCTGACCTCAGGTGATCCGCCCGCCTCAGCCTCCCA AAGTGTTGGGATTACAGGCATGAGCCCCTGCACCTGACGACAAACTTTCA ATTTATAAAAAACACAGTGTCGGCCAGGCGCGGTGGCTCACGCCTGTAAT ACCAGCACTTTGGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACATGGTGAATCCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGTGGAGCTTGCAGTG AGCCGG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0298 a0001c0001t0005g0298	1	340	0.0029	655	c.82+ others(672): Show c.82+16495_82+16496insGCGCCACTGCACTCCAAGCCTGGGCAAC AGGGCAAGACTCCATCTCAAAAAAAGTGCCTTTCTAGCAAGGTTGCTGCA AACTTACTTTTTTTTTTTTTTTGAGATGTAGTCCCACTCTGTTGCCCAGG TTGTAGTGCTGTGGCGCGATCTCGCCTCACTGCAACCTCTGCCTCCTAGG TTCAAGTGATTCTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTG CTGACCACCACACCTGGCTAATTTTTTTGTATGTTTAGTAGAGACGGGGC TTCATCGTGTTGGCCAGGTTGGTCTCGAACTCCTGACCTCAGGTGATCCG CCCGCCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGCCCCTGCAC CTGACGACAAACTTTCAATTTATAAAAAACACAGTGTCGGCCAGGCGCGG TGGCTCACGCCTGTAATACCAGCACTTTGGGAGGCCGAGGCAGGTGGATC ATGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAATCCCCGTC TCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCAGGTGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCCGGG AGGTGGAGCTTGCAGTGAGCCGGGATC	PPP2R2A	ENSG00000221914.11	transcript	ENST00000380737.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr8	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(648): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACC TCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCC TCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCT TCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCT CTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTC TCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTC TCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATC CCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCT CCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCC CCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCC CCTCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	210	0.0048	655	c.439 others(674): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCC CTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCT TCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCC CCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCC CTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTC CCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTC TCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGT CCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCT CCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTC TGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCT TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTC TCTCCCCTCCCTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(648): Show GGACGGGGCAGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATCCCTCCACCTCCCTCC CGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGC GGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0106 a0001c0007t0003g0106	1	252	0.0040	655	c.139 others(674): Show c.139-18628_139-18627insAGCTGGCCGGGCGGGGGGGCTGACCC CCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGGGGGGCCGACA TCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGATC CCTCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGG GGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGG GCAGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGC	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN4_chr2_119754922_119989899	119843900	G G	GGACGGGG others(648): Show GGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACCCCCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCGG ACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCG GGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCAG AGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAC CTCCCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	252	0.0040	655	c.139 others(674): Show c.139-18614_139-18613insGGGGGCTGACCCCCCCCCACCTCCCT CCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCTGGGCGGGGGGCCGACATCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGATCCCTCCACCTCCCTCCCG GACAGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCA GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGG GGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGAGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGC GGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCCGGCA GAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCAGACGGGGCGGCTGGCCGGGCGG	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(648): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGCCGCGTG GGGAGGAGTGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGCC GCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGA GGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAG GGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGGC CGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGG AGGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCG AGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGG GGCCGC	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0036 a0001c0002t0002g0036	1	67	0.0149	655	c.159 others(672): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCTCGCGGCCCCC TCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCCCTCCT CCCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCG CCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAC GCGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCC TCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACGCCC CCTCCTCCCCACGCGGCACACTCCTCCCCACGCGGCCCCCTCCTCCCCTC GCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCC TCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGC TCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCC ACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCCCCCT CCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTG GCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(648): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCACGTGGGGAGGAGG GGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTGGG GAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGGCC GTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAGGA GGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGGCCGCGT GGGGAGGAGTGTGCCGCGTGGGGAGGAGGGGGCGTGTGGGGAGGAGGCGC CGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGG AGGGGAAGGCGTGGGGAGGAGGGGGGCGCGTGGGGAGGAGGGGGCCGCGA GGGGAGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAGGAGGGGG CCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGAGGGGAG GAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCG AGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGG GGCCGC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	1	67	0.0149	655	c.159 others(672): Show c.1590+407_1590+408insGCGGCCCCCTCCTCCCCTCGCGGCCCCC TCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACGC GGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTC CCCACGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACGGCGC CTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCACG CGCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCCCCTCCT CTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACACGCCCC CTCCTCCCCACGCGGCACACTCCTCCCCACGCGGCCCCCCTCCTCCCCTC GCGGCCCCCTCCTCCCCACGCGCCCCCCTCCTCCCCACGCCTTCCCCTCC TCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGC TCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCCCTCCTCCCC ACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACGTGGCCCCCT CCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCGCTCCTCCCCATGTG GCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RPH3AL_chr17_207389_357807	242763	A A	ACCCTTCC others(648): Show ACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTAT TGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTT CCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTAC CTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATT ACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGA TTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATT GATTAC	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0026 a0001c0004t0026	a0001c0004t0026g0014 a0001c0004t0026g0014	1	133	0.0075	655	c.613 others(672): Show c.613+4347_613+4348insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGT AGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGG GTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAA GGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGA AGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAAT AGAGGAAGGTAATCAATAGAGGAAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242763	A A	ACCCTTCC others(648): Show ACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTAT TGATTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTT CCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTAC CTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATT ACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGA TTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATT GATTAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	133	0.0075	655	c.613 others(672): Show c.613+4347_613+4348insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGT AGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGG GTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAA GGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGA AGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAAT AGAGGAAGGTAATCAATAGAGGAAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242763	A A	ACCCTTCC others(648): Show ACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTG ATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTCCTCTAT TGATTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCT ATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTT CCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTAC CTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATT ACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGA TTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATT GATTAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	133	0.0075	655	c.613 others(672): Show c.613+4347_613+4348insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGT AGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGG GTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAA GGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGA AGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAATCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGA GGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAATCAAT AGAGGAAGGTAATCAATAGAGGAAGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	242763	A A	ACCTTCCT others(648): Show ACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGA TTACCCTTCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTAT TGACTACCTTCCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTA TTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCT ATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCTC TATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCTTCCT CTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGACTACCTTC CTCTATTGACTACCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTT CCTCTATTGATTACCTTCCTCTATTGACTACCTTCCTCTATTGACTACCT TCCTCTATTGATTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTAC CTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATTGATT ACCCTTCCTCTATTGACTACCTTCCTCTATTGATTACCTTCCTCTATTGA TTACCTTCCTCTATTGATTACCCTTCCTCTATTGATTACCTTCCTCTATT GATTAC	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0033 a0001c0002t0003g0033	1	133	0.0075	655	c.613 others(672): Show c.613+4347_613+4348insGTAATCAATAGAGGAAGGTAATCAATAG AGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCA ATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGGTAA TCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGTA GTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGT AGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGG GTAATCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAA GGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGA AGGTAGTCAATAGAGGAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGG AAGGTAGTCAATAGAGGAAGGTAGTCAATAGAGGAAGGTAGTCAATAGAG GAAGGTAATCAATAGAGGAAGGTAGTCAATAGAGGAAGGGTAATCAATAG AGGAAGGTAATCAATAGAGGAAGGGTAATCAATAGAGGAAGGTAATCAAT AGAGGAAGGGTAATCAATAGAGGAAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGG others(648): Show TTGGGTGGGGGGGTTGGGTGAGGGGGGGTGGGGGGGGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTT GGGTGAGGGGTTGGGGTTGGGTGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGG GGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGGGGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTG GGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG GGGTTGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTG AGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAG GGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTT GGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGG GTGGGG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0012 a0012	a0012c0063 a0012c0063	a0012c0063t0001 a0012c0063t0001	a0012c0063t0001g0011 a0012c0063t0001g0011	1	290	0.0035	655	c.464 others(668): Show c.464+91_464+92insTGGGGGGGTTGGGTGAGGGGGGGTGGGGGGGG TTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGTGAGGGGGGTGGGG GGGTTGGGTGAGGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTG AGGGGGGTGGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGT TGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGGTGGGGTGT TGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGG GGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGG TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGT GAGGGGGGTGGGGGGGTTGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTG GGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGG GGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTG AGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGG TTGGGTGAGGGGGGTGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3977040	C C	CCACGCAG others(648): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGCCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCC GGGGCT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0056 a0002c0009t0056	a0002c0009t0056g0044 a0002c0009t0056g0044	1	116	0.0086	655	c.199 others(674): Show c.1994+2495_1994+2496insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGCCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCC TCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	3977201	C C	CCACGCAG others(648): Show CCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAG GCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGA GGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCT GAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGC TGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGG CTGAGGCTGCCACGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCG GGGCTGAGGCTGCCACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCC GGGGCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0063 a0001c0063	a0001c0063t0053 a0001c0063t0053	a0001c0063t0053g0042 a0001c0063t0053g0042	1	116	0.0086	655	c.199 others(674): Show c.1994+2656_1994+2657insCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAA TCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGA ATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAG AGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCA GAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGACGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCT CCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGATCC TCCAGAGAATCACTGAGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SLC12A7_chr5_1045384_1117063	1098278	C C	CTAACCCT others(648): Show CTAACCCTCTGCTCACCAAGCCCCCTTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCTCACCCAGCCCCCTTCTAACCCTCTGCATGCCCA GGCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACA CCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCT GCACACCCAGCCCCCTTCTAACCCTCTGCATGCCCAGCCCCCCTCTAACC CTCTGCATGCCCAGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCTC TAACCCTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGCCC CCCTCTAACCCTCTGCACACCCAGCCCCCCTCTAACCCTCTGCACACCCA GCCCCCTTCTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCATG CCCAGGCCCCCTCTAACCCTCTGCTCACCCAGCCCTCCTCTAACATTCTG CACACCCAGCCCCCTTCTAACCCTCTGCACACCCAGGCCCCCCTCTAACC CTCTGCACACCCAGGCCCCCCTCTAACCCTCTGCACACCCAGGCCCCCCT CTAACCCTCTGCTCACCCAGCCCCCCTCTAACCCTCTGCTCACCCAGCCC CCCTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0023 a0001c0007t0006g0023	1	118	0.0085	655	c.125 others(672): Show c.125-4031_125-4030insAGAGGGGGGCTGGGTGAGCAGAGGGTTA GAGGGGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAG GGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGT GCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAATGTTAGAGGAGGGCTGG GTGAGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAGGGGGG CTGGGTGAGCAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGG GGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGA GGGTTAGAGGGGGGCTGGGCATGCAGAGGGTTAGAGGGGGGCTGGGCATG CAGAGGGTTAGAAGGGGGCTGGGTGTGCAGAGGGTTAGAGGGGGGCTGGG TGTGCAGAGGGTTAGAGGGGGGCCTGGGTGTGCAGAGGGTTAGAGGGGGG CTGGGTGTGCAGAGGGTTAGAGGGGGCCTGGGCATGCAGAGGGTTAGAAG GGGGCTGGGTGAGCAGAGGGTTAGAGGGGGGCTGGGTGTGCAGAGGGTTA GAAGGGGGCTTGGTGAGCAGAGGGTTA	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	1/23			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(648): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGAGGAGGGAGG GGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGG GAGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GAGGAGGGAGGGGAGGAGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGG AGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTG GCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA19030.hp2 HG03195.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	655	c.12 others(666): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCC TTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCC TCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTC TGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTC CTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTC CCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTC CCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTT CCTTCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(648): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGG GGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGA GGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGG GAGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	655	c.12 others(666): Show c.1218_*1219insCCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCT CCCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCC CTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(648): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGG GGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGG GAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGA GGAGGGAGGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCG GGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	655	c.12 others(666): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCC CTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCC TTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(648): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGG AGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGG GGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGGAGGAGGGAGGGGGAG GGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGG GGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGG AGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCG GGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	655	c.12 others(666): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(648): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGG AGGGGGGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAG GAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGC AGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGG GGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAA GGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGG AGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGGAGGGGAGAGGG GAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAG GGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAG GGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGG GGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGG AGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCG GGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	655	c.12 others(666): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCC TTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCC TCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCT TCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCCTCCTCCCCCTTCC CCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTC TCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCT CCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCC CTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCCTGCCC TCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNX9_chr6_157818246_157950077	157827089	C C	CATATATT others(648): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATAGTTTATATAATA TATAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATA TAAACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATA AACATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAA CATATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATAAA	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	302	0.0033	655	c.12+ others(670): Show c.12+3669_12+3670insAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAAC ATATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACAT ATAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATAT AGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAAAA TATATTATAGTTTATATAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(648): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0132 a0001c0001t0009g0132	1	302	0.0033	655	c.12+ others(670): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(648): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAC ACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATA ATATATACACATATATTATAGTTTATATAATATATACACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTAT ATAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTA TAGTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATA GTTTATATAATATATAAACATATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0133 a0001c0001t0009g0133	1	302	0.0033	655	c.12+ others(670): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATACACATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTA TATAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SYTL3_chr6_158645054_158769871	158701175	G G	GGTGAGCT others(648): Show GGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGG GCTGTCTAGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCT GGGGTGTACATGAAGGACTGTCTGGGGGTAGGAGCCGTGGGAAGAGGGTC ATGGAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGT AGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGT GTAGATGAAGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAG GAGTGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTGTAGATGA AGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAGCC GTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGA GTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTACATGA AGGAGT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	292	0.0034	655	c.395 others(672): Show c.395-6006_395-6005insGCTGTCTAGGGGAGGAGCCGTGGGAAGA GGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGACTGTCTGGGGG TAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTAGAT GAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAG ATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGGCTGTCTGGGGGAGGAG CCGTGGGAAGAGGGTCATGGAGGAGTGTGAGCTGGGGTGTACATGAAGGA GTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GAGTGTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGA AGGGCTGTCTGGGGGAGGAGCCGTGGGAAGAGGGTCATGGAGGAGTGTGA GCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGTGT GAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGAGT GTGAGCTGGGGTGTAGATGAAGGAGTGTGAGCTGGGGTGTAGATGAAGGA GTGTGAGCTGGGGTGTACATGAAGGAGTGTGAGCTGGGGTGTAGATGAAG GAGTGTGAGCTGGGGTGTAGATGAAGG	SYTL3	ENSG00000164674.17	transcript	ENST00000611299.5	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr6	TogoVar

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