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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADGRV1_chr5_90553797_91169437	90686000	GAAAAGAC others(2041): Show GAAAAGACATCTAAAAAGCAGTACATACAGAGGGATGTAAGCACAGAGGG ACATGTATCCTTGATTAACACAGCCTCTCAAAGTTGCAATTAGGATAATC AACTAGAAAACTAGAAATACTCTTGTATCTTTTTCAAGGGACAAATCTAG AGTCTTTTTTTTTGGGGGGGGGGATGGAGTCTCGCTTGATTTTACAATTT TTTTATTTTTATTTTTATTTTATTATTATTATACTTTAAGTTTTAGGGTA CATGTGCACAACGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGTGCTGCACCCATTAACTCATCATTTGGCATTAGGTATATCTCCTAAA GCTATCCCTCCCCGCTCCCCACACCCCACAACAGTCCCCAGAGTGTGATG TTCCCCTTTCTGTGTCCATGTGTTCTCATTGTTCACTTCCCACCTATGAG TGAGAATATGCAGTGTTTGGTTTTTTGTTCTTGTGATAGTTTACTGAGAA TGATGATTTCCAATTTCATCCATGTCCCTACAAAGGACATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGTCTATCATTGTTGGACATTTGGGTTGGTTCCAAGCCTTTGCTA TTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCTG CATGATTTATAGTCCTTTGGGTATATACTCAGTAATGGGATGGCTGGGTC AGATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACGCTGACTTCC ACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCT ATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGGC TGCCATTCTAACTGGTGTGAGATGGTATCTCATTGTGGTTTTGATTTGCA TTTCTCTGACGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCT GCATAAATGTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTTGCCCACTT TTTGATGGGGTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGAT TCTGGATATTAGCCCTTTGTCAGATGAGTAGGTTGCGAAAATTTTCTCAC ATTTTGTAAGTTGCCTGTTCACTGTGATGGTACTTACTTTTGCTGTGCAG AAGCTCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGGCTTTTGTTGC CATTGCTTTTGGTGTTTTAGACATGAAGTCCTTGCCCATGCCTATGTCCT GAATGGTAATGCCTAGGCTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTA ACGTTTAAGTCTTTAATCCATCTTGAATTAATTGTTGTATAAGGTGTAAG GAAGGGATCCAGTTTCAGCTTTCTACATATGGCTAGTCAGTTTTTCTGAA TGGGCAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACAGGGAT GCCCTCTCTCACCACTCGTATTCAACATAGTGTTGGAAGTTCTGGCCAGG GCAATTAGGCAGGAGAATGACATAAAGGGTATTCAGTTAGGAAAAGAGGA AGTCAAATTGTCCCTGTTTGCAGATGACATGATTGTATATCTAGAAAATC CCATTGTCTCAGCGCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAA GTCTCAGGATACAAAATCAATGTACAGAAGTCACAAGCACTCTTATACAC CAATAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATTCACAA TTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGACGTG AAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAACGAAATAAAAGA GGATACAAACAAGTGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCA ATATCGTGAAAATGGCCATACTGCTCAAGGTAATTTATAGATTCAATGCC ATCCCCATCAAGCTACCAATGACTTCACAGAATTGGAAAAAACTACTTT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0033 a0055 a0033 a0055	a0033c0058 a0055c0057 a0033c0058 a0055c0057	a0033c0058t0003 a0055c0057t0001 a0033c0058t0003 a0055c0057t0001	a0033c0058t0003g0060 a0055c0057t0001g0144 a0033c0058t0003g0060 a0055c0057t0001g0144	2	156	0.0128	-2048	c.649 others(16): Show c.6490+9_6491-1810del		ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	29/89					INFO_REALIGN_3_PRIME	chr5	TogoVar
PCGF3_chr4_700832_775089	744984	CCCGGGGG others(2041): Show CCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCA GTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGT CGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCC CGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGG CGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGC AGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGG GGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGG GGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGC TCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGT TAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG GTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG CCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGA GCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGG TCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0277 a0001c0001t0008g0277	1	339	0.0029	-2048	c.462 others(16): Show c.462+299_462+2346del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
RETREG2_chr2_219173275_219190475	219188430	AAAAAAAA others(2038): Show AAAAAAAAAAAAAAAAAGTATTCTGAGATTTGACGCTGGCCTGTCTTTAC AGCAACAGCAAACCCCAAACAGCTTGTCCTCCCCACTGCTCAGTTGTGCT GCCCTCCCCCACCTCTGCTCTACACACACACCCCCTATCCCTTCACTTGG CAAATGTCTCACTTACCTTTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCATAATCTTCAGCTCACTGCAACCTCCA CCTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCTCACACCACCATGCCCAGTTAATTTTTTTGTATTTTTAGTAG AGACATGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCA AATGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAATCGAGAG CTACCATGCCCGACTTTCACTTATCTTTTAAGATGCACTTCAGGCCACAC CTCATCTACCAATGTCCCCTGATATCCCTCACCATGCCACCCCCCACCCC AATGTCAGTCCCACTCTCCTAGTGCTTTTGTAGTCTATTGGGCATACTTC TGTTTTCCCACTTACCACAGGGAATCCTTATACCCTCTCTGAAAGTATGT GGATATAGAGTATATAGGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTATACAGATACATATATACGTATGTATACCCGCCACAATACTGCTT ATTCTTGAAGGCAGAGACAATGTCTTATCATCTGAATATCCTCAAAGCCT AGCATAGTGTCTGGCACATAGTAGGTGCTCAAAAAATGCGTGTTAGACTA AATTGAACTAATACTAGAGTAACCAGTTATAGATTTTGAAGCAACTAGTG AAAAGAGTTTGGTGACTGATACATGGCTATGTTATTGATGCATGCCTTTG CTTGTCCATTACTGTTCTAGAGGGAATAGTAGCTAGGTTAAAATAATCGG CAGATAGACTTGTGAGTTCTTTTTCCCTGGACTAGGTTAAAGGCAATTCA AACAATCTAGAGCTGGAGATTCGTATTTGCTGGTTTGGGAGCGGGGTTTT CTGAGTTTAAGGTAAGATTGCCCAACTAGCTTGATCTTCTGTGATTGCAT CAAATTATTATGTTGTTTGGAAAACAATTTTGGATTTAGACTCTTTTTTG AGACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAGCTGTAAGGTCAT AGCTCACTGCAGCCTTAAACTCCTGGGCTCAAGTGACCCCTTTGCCCCAG CCTCCCGAGTAGCTGGGACTACAGGTGCCCACTACCATGCCCAGCTAATT TTTTGTTTGTTTTGAGACAGAATTTCACTCTTGTTGCATAGGCTGGAGTG AAATGGTGCAATCTCAGCTCACCGCAAACTCCACCTCCCGGGTTCAAGTG ATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCACCAC CACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTT GGTAAGGCAGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGCT AATTTTTAAAGTATCTTTTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCT GGTCTCAAATTCTTGACTTCAAACAATCTTCCCACCACAGCCTCCTGAGA AGCTAGGATTACAGGCATGAGCCACTGCACCTGTGATATGGTTTGGTTGT GTCCTCACCCAAATCTCTCACCCTTTAGGAAATGACTAGATCATGAAAGC TCCACCCTCATAAATGGGATTAGTTGGCTAGGCATCGTGGCTCACCCCTG TAATCCCAGTACTTTGGGAGGCCAAGGCCAGTAGATCACTTGAGGTCAGG AATTCGAGACCAGCCTGGCCAACATGGTGAAACTTGGTAGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 NA19006.hp1 HG02965.hp1 NA19006.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0043 a0002c0001t0001 a0002c0001t0043	a0002c0001t0001g0002 a0002c0001t0043g0002 a0002c0001t0001g0002 a0002c0001t0043g0002	2	428	0.0047	-2045	c.58 others(11): Show c.5802_*7846del		RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding					2956		chr2	TogoVar
CCDC92B_chr17_2715801_2754652	2735440	CTTTTTTT others(2037): Show CTTTTTTTTGAGATGGAGTCTTGCTCTGTTGCACAGACTGGAGTGCAGTG GCACGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCT CCTTCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCAGCTGCCACCATGC CCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCC AGGCTGGTCTTGAACTCCTAACCTCAGGAGATCCATCCGCCTTGGCCTCC CAGAGTGCCAGGATGACAGGTGTGAACCACTGTGCCCAGGCCCATATAAC TTTAGCCTCTTCTACTTCTCAAACAGGAAAACAAATGGAGTGGCAAAGTC AGTAGAGAGACAGAGAACCTGGGTTCTAGCCTGCTCCTCCCGCCCTAGCA GTGTGACCTGGGTGAGCCCTTTCCCTCTGTGGGCTCTCAAGTTTCTCAGG GGTAAAATGAGGGAGATGTGGAGTGAGTGAGCCCTAGAGTCTCTTCCAGT TCTGACACCCTGCAAGTATCTCAGCCCAAGGGCTACATGGCTGTTCTGAA TATTATTCTCCCTTAGTTCAACTCCACTTCAACTTCACCACAGTCCAGGG CTCCAGGCTCCTCCAAGTGGCAGAGGAGGAAGATCTGGTGAATGTTTCAC TAACACTGACTCTGGGCTGAAGGCAGGTGGTGGAGTCCCTTTGTAAAAGA GAAAGGCGGGCCGGGCGCGGTGGCTCACACAGTAATCCCAGCACTTTGGG AGCTTGAGGTGGGAGGATCACAAGGTCAGGAGTTCAAGACCAGCCTTTCC AACATGGTGAAACCCCGTCTCTACTCAAAATACAAAAATTAGCCAGGCTT GGTGGCACGTGCTTGTAATCCCAGCTACTCAGAAGGCTGAGGCAGGAGAA TGGCTTGAACCCGGGAGGCGGAGGTTGCAGTGAACTGAGACCATGCCACT GCACCCCAGCCTGGGCGACAGGGTGAGACTCTGTCTCTAAATAAATAAAT TAAATTAAATTAAATTAAAGAAATAGGCCAGCCGTGGTGGCTCACTCCTG TAATCCCAGCACTCTGAGAGGCTGACGTGGGAAGACTGCGTGAGTCCAGG AGTTTGAGACCAGCCTGGGTAACAAAGTGAGATCTCGTCTCTAAAAATAT ATATCCATAGGCCGGACTCGGTGGTTCACGCCTGTAATCCCAGCACTTTT GGAGGCCAAGGTCGGCGGATCACTTGAGGTCAGTTCGAGACCAGCCTGGC CGACGTGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGC GTGGTGGGGCAGGTGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCACA AGGATTGCTTGAACCCGGGAGGTGGAAGCTCCAATGAGCCAACATTGCAC CACTGTACTGCAGCCTGGGCAACAGAGTGAGACTCTGTCTCAAAAAATAA ATAAATAAATAAATAAATAAATAAAATACATACATACATATAAATAAATA CAATAAAAAAGAGAAATAGGAGAGGGGAAGAGAGACTCATGCAGTGACTC CCATGGCAGAACTTTGAGTTGCAGTGATGGATGAGAGCCATGCATCCCTG AATCCTAATGATGGCCTGGCTTTCCAGCTCTGCTGCTTCTGGCTCCGCCC CCTTCCCCATGACTCTGTTCTGTGATAATCAGCATCTTGGACAAGCAGAG GCAGACCGCGAACACTGGAGCCCAGGACTTAGAGCTCCTGCTTTCTCAGC CAAGGACTCCCTAAGCTTTGGAGGAACCTGCCTTCACCTGCCCCTGGAAT GTCCTGGGCAGTGGGAGAGACAGGCCAGTAAGATGAGTAATTCTGTTCAC CAAATGGTCCCTTCCAGACTAGCTTACATGTAAGACTCAGAAAAATCCAG ATTTTCATTTGTGGGGTTACATCGAGCAGGTCCCCCTGAGAACTCCAATC CTCAGGGCACTCCTCTCTCTGGGCCCCTTTCTCTGGTACTCCCCTGACCC CCCTAATCCAACCAAATAGGCCTTTCTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0336 a0002c0002t0002g0336	1	415	0.0024	-2044	c.-23 others(16): Show c.-23-2316_-23-273del		CCDC92B	ENSG00000277200.2	transcript	ENST00000614400.2	protein_coding	1/3						chr17	TogoVar
MAGEA4_chrX_151907889_151930170	151913961	CCGCCATC others(2037): Show CCGCCATCTCCCACCCCAACAACCCGGGCCCTTCTACCAACCTCACCCCT CCCACCCCCATCCACACTGAATCACGTTCCGCTTCCGCTTTCAACCCACC CCCAAAAACCCGCCCCCTCCATCGACCTCACCCCTCCCACCCCCATCCAC GCTGAATCTGATTTCCGCTTCCTCTTTCAACCCAAGAAAGCCCCAGGGGC CCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGC TGCTCTGTCTGACCAGCAGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGC CCTGTGAGGAGTCAAGGTGAGACGCTGAGGGAGGACTCAGGAGGCCCCCA CCCCAGATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACCAGCCG TGGGCCACCCGTGGGCGGACTTCTGAGTCTGGGGCGCCCTCCACCCCACT GCGTCTGAAGTCGCATGGGACTCTGGAGTCCGAGCTTGGGGTGGTTAGTG TAAGACTAGTGAGGGCAGGCTCTACGAGGCATCAACCTCAGGACCCTAAG AGAGGGCCAAGCGTACCCCACCCCTATTTCTATCCCCCACCGCCTCCCCT TTCCCATTACTATTTGCACTCCCAAACCCATCCGCGCCCCTATCCCCCAC CAGCACTCCTATCCTCAACCCCGCACCTCTCTCACACCGCCATCTCCCAC CCCAAAAACTGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCATGGA TGCTGAATTGGGTTGCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCC CCCTCCACCGACCTCACCCCTCCCACCCCCTTCCACGCTGAATCGGGTTT CCGCTTCCGCTTTCAACCCAAGAAAGTCCCAGGTGCCCGGATGTGATGCC ACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGACCAGCC GCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGT GAGATGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCC AAATAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCTGTGGGCGG ACTTCTGAGTCTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGCAGAG GACTCTGGAGTCAGAGCTTAGGGTGTTTAGTGTAAGACTAGTGAGGCCAG GCTCTGCCAGGCATCAATCTCAGGACCGTAAGAGAGGGCTAAGCGTACCC CACCCCTATTCCCATCCCCCATCACGTCCCCTTTCCCATTACCATTTGCA CTCCTAAACCCATCCGCGCCCCCATCCCCCACCAGCACTCCTCCTCGACC CCCCACCTCTGTCATACCGCCATCTGCCACCCCAAAAACCGGGGCCCCTC CACCAACCTCACCCCTCCCACCCCCATCCACGCTGAATCGGGTTCCGCTT CCGCTTTCAACCCACTCCCAAAAACCCGCCCCCTCCACCGACCTCCCCCC CACCCCCATCCACGCTGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAGA AAGCCTCAGGGGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTA GAGAGAAGCGAGCTGCTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGAA GCAGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCAG GAGGCCACCACCCCAGATAGACGACCCCAAATAATCCTGCACCACTCCTA CCTGCCGTGGGCCACCTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACCA CCCCACTGCCTCTGAAGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGTG TTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGGA CCCTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCACCAC GTCCCCTTTCCCATTACCATTTGCACTCCCAAACCATCCACGCCCCATCC CCCACCAGCACTCCTCTCCTCTTCAACCCCCCACCTCTCTCATAT	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03239.hp1 HG03491.hp2 others(1): Show HG02735.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0011 a0002c0001t0002g0011	4	342	0.0117	-2044	c.-13 others(19): Show c.-138+1025_-138+3068del		MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEA4_chrX_151907889_151930170	151913994	CTACCAAC others(2037): Show CTACCAACCTCACCCCTCCCACCCCCATCCACACTGAATCACGTTCCGCT TCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCATCGACCTCACCC CTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTCCTCTTTCAACCC AAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACTTGCGCATTGGGG GTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCTTGGGATTGGCGG AGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTGAGGGAG GACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCCCGCACC ACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACTTCTGAGTCTGGG GCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGACTCTGGAGTCCGA GCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCTCTACGAGGCATC AACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCACCCCTATTTCTAT CCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTCCCAAACCCATCC GCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCCCGCACCTCTCTC ACACCGCCATCTCCCACCCCAAAAACTGGGGCCCCTCCACCAACCTCACC CCTCCCACCCCCATGGATGCTGAATTGGGTTGCGCTTCCGCTTTCAACCC ACCCCCAAAAACCCGCCCCCTCCACCGACCTCACCCCTCCCACCCCCTTC CACGCTGAATCGGGTTTCCGCTTCCGCTTTCAACCCAAGAAAGTCCCAGG TGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCG AGCTGCTCTGACCAGCCGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCC CTGTGAGGAGTCAAGGTGAGATGCTGAGGGAGGACTCAGGAGGCCCCCAC CCCAGATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACCAGCCGT GGGCCACCTGTGGGCGGACTTCTGAGTCTGGGGCGCCCACCACCCCACTG CCTCTGAAGTCGCAGAGGACTCTGGAGTCAGAGCTTAGGGTGTTTAGTGT AAGACTAGTGAGGCCAGGCTCTGCCAGGCATCAATCTCAGGACCGTAAGA GAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCATCACGTCCCCTT TCCCATTACCATTTGCACTCCTAAACCCATCCGCGCCCCCATCCCCCACC AGCACTCCTCCTCGACCCCCCACCTCTGTCATACCGCCATCTGCCACCCC AAAAACCGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCATCCACGC TGAATCGGGTTCCGCTTCCGCTTTCAACCCACTCCCAAAAACCCGCCCCC TCCACCGACCTCCCCCCCACCCCCATCCACGCTGAATCGTGTTTCCGCTT CCGCTTTCAACCCAAGAAAGCCTCAGGGGCCCGGATGTGATGCCACTGAC TTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTGTCTGACCAGCAGCTT GGGATTGGTGGAAGGAAGCAGGCCAGGCCCTGTGAGGAGTCAAGGTGAGA CGCTGAGGAGGACTCAGGAGGCCACCACCCCAGATAGACGACCCCAAATA ATCCTGCACCACTCCTACCTGCCGTGGGCCACCTGTGGGCGGACTTCTGA GCTTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGCAGGGGACTCTGG AGTCAGAGCTTGGGGTGTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCC GGGCATCAATCTCAGGACCCTAAGAGAGGGCTAAGCGTACCCCACCCCTA TTCCCATCCCCCACCACGTCCCCTTTCCCATTACCATTTGCACTCCCAAA CCATCCACGCCCCATCCCCCACCAGCACTCCTCTCCTCTTCAACCCCCCA CCTCTCTCATATCGCCATCTCCCACCCCAACAACCCGGGCCCTTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(150): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18962.hp1 NA18964.hp2 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19068.hp1 NA19075.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0003 a0001c0004 others(9): Show a0001c0002 a0001c0003 a0001c0004 a0001c0011 a0002c0001 a0002c0006 a0002c0012 a0003c0007 a0003c0008 a0003c0016 a0004c0005 a0006c0010	a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 others(15): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0003t0003 a0001c0004t0002 a0001c0011t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0006 a0002c0006t0002 a0002c0006t0005 a0002c0012t0002 a0003c0007t0002 a0003c0008t0002 a0003c0016t0002 a0004c0005t0002 a0006c0010t0002	a0001c0002t0002g0001 a0001c0002t0002g0034 a0001c0002t0002g0036 others(52): Show a0001c0002t0002g0001 a0001c0002t0002g0034 a0001c0002t0002g0036 a0001c0002t0003g0049 a0001c0002t0004g0041 a0001c0003t0002g0007 a0001c0003t0002g0014 a0001c0003t0002g0016 a0001c0003t0002g0099 a0001c0003t0003g0044 a0001c0004t0002g0001 a0001c0004t0002g0005 a0001c0011t0002g0081 a0002c0001t0001g0004 a0002c0001t0002g0001 a0002c0001t0002g0005 a0002c0001t0002g0025 a0002c0001t0002g0026 a0002c0001t0002g0037 a0002c0001t0002g0038 a0002c0001t0002g0043 a0002c0001t0002g0052 a0002c0001t0002g0069 a0002c0001t0002g0070 a0002c0001t0002g0073 a0002c0001t0002g0074 a0002c0001t0002g0075 a0002c0001t0002g0076 a0002c0001t0002g0077 a0002c0001t0002g0078 a0002c0001t0002g0079 a0002c0001t0002g0080 a0002c0001t0002g0082 a0002c0001t0002g0083 a0002c0001t0002g0085 a0002c0001t0002g0087 a0002c0001t0002g0088 a0002c0001t0002g0089 a0002c0001t0002g0091 a0002c0001t0002g0092 a0002c0001t0002g0093 a0002c0001t0002g0094 a0002c0001t0006g0001 a0002c0006t0002g0001 a0002c0006t0005g0045 a0002c0012t0002g0001 a0003c0007t0002g0012 a0003c0007t0002g0035 a0003c0008t0002g0027 a0003c0008t0002g0029 a0003c0008t0002g0030 a0003c0016t0002g0032 a0004c0005t0002g0010 a0004c0005t0002g0090 a0006c0010t0002g0031	153	342	0.4474	-2044	c.-13 others(19): Show c.-138+2713_-138+4756del		MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEA4_chrX_151907889_151930170	151915682	CGACCCCA others(2037): Show CGACCCCAAATAATCCTGCACCACTCCTACCTGCCGTGGGCCACCTGTGG GCGGACTTCTGAGCTTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGC AGGGGACTCTGGAGTCAGAGCTTGGGGTGTTTAGTGTAAGACTAGTGAGG CCAGGCTCTGCCGGGCATCAATCTCAGGACCCTAAGAGAGGGCTAAGCGT ACCCCACCCCTATTCCCATCCCCCACCACGTCCCCTTTCCCATTACCATT TGCACTCCCAAACCATCCACGCCCCATCCCCCACCAGCACTCCTCTCCTC TTCAACCCCCCACCTCTCTCATATCGCCATCTCCCACCCCAACAACCCGG GCCCTTGTACCAACCTCACCCCTCCCACCCCCATCCACACTGAATCACGT TCCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCATCGACC TCACCCCTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTCCTCTTT CAACCCAAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACTTGCGCA TTGGGGGTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCTTGGGAT TGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTG AGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCC CGCACCACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACTTCTGAG TCTGGGGCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGACTCTGGA GTCCGAGCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCTCTACGA GGCATCAACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCACCCCTAT TTCTATCCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTCCCAAAC CCATCCGCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCCCGCACC TCTCTCACACCGCCATCTCCCACCCCAAAAACTGGGGCCCCTCCACCAAC CTCACCCCTCCCACCCCCATGGATGCTGAATTGGGTTGCGCTTCCGCTTT CAACCCACCCCCAAAAACCCGCCCCCTCCACCGACCTCACCCCTCCCACC CCCTTCCACGCTGAATCGGGTTTCCGCTTCCGCTTTCAACCCAAGAAAGT CCCAGGTGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGA GAAGCGAGCTGCTCTGACCAGCCGCTTGGGATTGGCGGAGGGAAGCGGGC CAGGCCCTGTGAGGAGTCAAGGTGAGATGCTGAGGGAGGACTCAGGAGGC CCCCACCCCAGATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACC AGCCGTGGGCCACCTGTGGGCGGACTTCTGAGTCTGGGGCGCCCACCACC CCACTGCCTCTGAAGTCGCAGAGGACTCTGGAGTCAGAGCTTAGGGTGTT TAGTGTAAGACTAGTGAGGCCAGGCTCTGCCAGGCATCAATCTCAGGACC GTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCATCACGT CCCCTTTCCCATTACCATTTGCACTCCTAAACCCATCCGCGCCCCCATCC CCCACCAGCACTCCTCCTCGACCCCCCACCTCTGTCATACCGCCATCTGC CACCCCAAAAACCGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCAT CCACGCTGAATCGGGTTCCGCTTCCGCTTTCAACCCACTCCCAAAAACCC GCCCCCTCCACCGACCTCCCCCCCACCCCCATCCACGCTGAATCGTGTTT CCGCTTCCGCTTTCAACCCAAGAAAGCCTCAGGGGCCCGGATGTGATGCC ACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTGTCTGACCAG CAGCTTGGGATTGGTGGAAGGAAGCAGGCCAGGCCCTGTGAGGAGTCAAG GTGAGACGCTGAGGAGGACTCAGGAGGCCACCACCCCAGATAGAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00423.hp1 others(166): Show HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp2 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04184.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18987.hp1 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18992.hp1 NA18994.hp1 NA18995.hp1 NA18997.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0002 a0001c0004 a0001c0009 others(5): Show a0001c0002 a0001c0004 a0001c0009 a0001c0014 a0002c0001 a0002c0006 a0005c0013 a0007c0015	a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0002t0003 a0001c0004t0001 a0001c0004t0002 a0001c0009t0001 a0001c0014t0001 a0002c0001t0001 a0002c0001t0002 a0002c0006t0001 a0005c0013t0001 a0007c0015t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0013 others(44): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0028 a0001c0002t0001g0040 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0084 a0001c0002t0001g0096 a0001c0002t0003g0003 a0001c0004t0001g0006 a0001c0004t0001g0009 a0001c0004t0001g0097 a0001c0004t0001g0098 a0001c0004t0002g0062 a0001c0009t0001g0020 a0001c0014t0001g0003 a0002c0001t0001g0006 a0002c0001t0001g0009 a0002c0001t0002g0002 a0002c0001t0002g0021 a0002c0001t0002g0022 a0002c0006t0001g0024 a0002c0006t0001g0058 a0005c0013t0001g0002 a0007c0015t0001g0002	169	333	0.5075	-2044	c.-13 others(19): Show c.-138+2729_-138+4772del		MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
RETREG2_chr2_219173275_219190475	219188431	AAAAAAAA others(2037): Show AAAAAAAAAAAAAAAAGTATTCTGAGATTTGACGCTGGCCTGTCTTTACA GCAACAGCAAACCCCAAACAGCTTGTCCTCCCCACTGCTCAGTTGTGCTG CCCTCCCCCACCTCTGCTCTACACACACACCCCCTATCCCTTCACTTGGC AAATGTCTCACTTACCTTTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCATAATCTTCAGCTCACTGCAACCTCCAC CTTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCTCACACCACCATGCCCAGTTAATTTTTTTGTATTTTTAGTAGA GACATGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAA ATGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAATCGAGAGC TACCATGCCCGACTTTCACTTATCTTTTAAGATGCACTTCAGGCCACACC TCATCTACCAATGTCCCCTGATATCCCTCACCATGCCACCCCCCACCCCA ATGTCAGTCCCACTCTCCTAGTGCTTTTGTAGTCTATTGGGCATACTTCT GTTTTCCCACTTACCACAGGGAATCCTTATACCCTCTCTGAAAGTATGTG GATATAGAGTATATAGGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTATACAGATACATATATACGTATGTATACCCGCCACAATACTGCTTA TTCTTGAAGGCAGAGACAATGTCTTATCATCTGAATATCCTCAAAGCCTA GCATAGTGTCTGGCACATAGTAGGTGCTCAAAAAATGCGTGTTAGACTAA ATTGAACTAATACTAGAGTAACCAGTTATAGATTTTGAAGCAACTAGTGA AAAGAGTTTGGTGACTGATACATGGCTATGTTATTGATGCATGCCTTTGC TTGTCCATTACTGTTCTAGAGGGAATAGTAGCTAGGTTAAAATAATCGGC AGATAGACTTGTGAGTTCTTTTTCCCTGGACTAGGTTAAAGGCAATTCAA ACAATCTAGAGCTGGAGATTCGTATTTGCTGGTTTGGGAGCGGGGTTTTC TGAGTTTAAGGTAAGATTGCCCAACTAGCTTGATCTTCTGTGATTGCATC AAATTATTATGTTGTTTGGAAAACAATTTTGGATTTAGACTCTTTTTTGA GACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAGCTGTAAGGTCATA GCTCACTGCAGCCTTAAACTCCTGGGCTCAAGTGACCCCTTTGCCCCAGC CTCCCGAGTAGCTGGGACTACAGGTGCCCACTACCATGCCCAGCTAATTT TTTGTTTGTTTTGAGACAGAATTTCACTCTTGTTGCATAGGCTGGAGTGA AATGGTGCAATCTCAGCTCACCGCAAACTCCACCTCCCGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCACCACC ACACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTG GTAAGGCAGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGCTA ATTTTTAAAGTATCTTTTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCTG GTCTCAAATTCTTGACTTCAAACAATCTTCCCACCACAGCCTCCTGAGAA GCTAGGATTACAGGCATGAGCCACTGCACCTGTGATATGGTTTGGTTGTG TCCTCACCCAAATCTCTCACCCTTTAGGAAATGACTAGATCATGAAAGCT CCACCCTCATAAATGGGATTAGTTGGCTAGGCATCGTGGCTCACCCCTGT AATCCCAGTACTTTGGGAGGCCAAGGCCAGTAGATCACTTGAGGTCAGGA ATTCGAGACCAGCCTGGCCAACATGGTGAAACTTGGTAGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(126): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02132.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp2 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03834.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18955.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18975.hp2 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18997.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19055.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19070.hp2 NA19082.hp2 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0002 a0002c0001 a0005c0007 a0001c0002 a0002c0001 a0005c0007	a0001c0002t0034 a0001c0002t0035 a0002c0001t0001 others(10): Show a0001c0002t0034 a0001c0002t0035 a0002c0001t0001 a0002c0001t0022 a0002c0001t0037 a0002c0001t0038 a0002c0001t0039 a0002c0001t0040 a0002c0001t0041 a0002c0001t0044 a0002c0001t0045 a0002c0001t0046 a0005c0007t0001	a0001c0002t0034g0001 a0001c0002t0035g0001 a0002c0001t0001g0001 others(17): Show a0001c0002t0034g0001 a0001c0002t0035g0001 a0002c0001t0001g0001 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0010 a0002c0001t0001g0011 a0002c0001t0001g0012 a0002c0001t0001g0014 a0002c0001t0022g0002 a0002c0001t0037g0018 a0002c0001t0038g0002 a0002c0001t0039g0002 a0002c0001t0040g0002 a0002c0001t0041g0002 a0002c0001t0044g0002 a0002c0001t0045g0002 a0002c0001t0046g0002 a0005c0007t0001g0002	129	428	0.3014	-2044	c.58 others(11): Show c.5803_*7846del		RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding					2957		chr2	TogoVar
RETREG2_chr2_219173275_219190475	219188432	AAAAAAAA others(2036): Show AAAAAAAAAAAAAAAGTATTCTGAGATTTGACGCTGGCCTGTCTTTACAG CAACAGCAAACCCCAAACAGCTTGTCCTCCCCACTGCTCAGTTGTGCTGC CCTCCCCCACCTCTGCTCTACACACACACCCCCTATCCCTTCACTTGGCA AATGTCTCACTTACCTTTTTATTTTATTTTATTTTATTTTATTTTATTTT ATTTTATTTTATTTTATTTTATTTTTTTGAGATGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCATAATCTTCAGCTCACTGCAACCTCCACC TTCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCTCACACCACCATGCCCAGTTAATTTTTTTGTATTTTTAGTAGAG ACATGGTTTCATCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTCAAA TGATCCACCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAATCGAGAGCT ACCATGCCCGACTTTCACTTATCTTTTAAGATGCACTTCAGGCCACACCT CATCTACCAATGTCCCCTGATATCCCTCACCATGCCACCCCCCACCCCAA TGTCAGTCCCACTCTCCTAGTGCTTTTGTAGTCTATTGGGCATACTTCTG TTTTCCCACTTACCACAGGGAATCCTTATACCCTCTCTGAAAGTATGTGG ATATAGAGTATATAGGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTATACAGATACATATATACGTATGTATACCCGCCACAATACTGCTTAT TCTTGAAGGCAGAGACAATGTCTTATCATCTGAATATCCTCAAAGCCTAG CATAGTGTCTGGCACATAGTAGGTGCTCAAAAAATGCGTGTTAGACTAAA TTGAACTAATACTAGAGTAACCAGTTATAGATTTTGAAGCAACTAGTGAA AAGAGTTTGGTGACTGATACATGGCTATGTTATTGATGCATGCCTTTGCT TGTCCATTACTGTTCTAGAGGGAATAGTAGCTAGGTTAAAATAATCGGCA GATAGACTTGTGAGTTCTTTTTCCCTGGACTAGGTTAAAGGCAATTCAAA CAATCTAGAGCTGGAGATTCGTATTTGCTGGTTTGGGAGCGGGGTTTTCT GAGTTTAAGGTAAGATTGCCCAACTAGCTTGATCTTCTGTGATTGCATCA AATTATTATGTTGTTTGGAAAACAATTTTGGATTTAGACTCTTTTTTGAG ACAGAGTCTTGCTCTGTTGGCCAGGCTGGAGTGCAGCTGTAAGGTCATAG CTCACTGCAGCCTTAAACTCCTGGGCTCAAGTGACCCCTTTGCCCCAGCC TCCCGAGTAGCTGGGACTACAGGTGCCCACTACCATGCCCAGCTAATTTT TTGTTTGTTTTGAGACAGAATTTCACTCTTGTTGCATAGGCTGGAGTGAA ATGGTGCAATCTCAGCTCACCGCAAACTCCACCTCCCGGGTTCAAGTGAT TCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGCACCACCA CACCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGG TAAGGCAGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCACCTGGCCCAGCTAA TTTTTAAAGTATCTTTTAGAGACAAGGTCTTGCTTTGTTGCCCAGGCTGG TCTCAAATTCTTGACTTCAAACAATCTTCCCACCACAGCCTCCTGAGAAG CTAGGATTACAGGCATGAGCCACTGCACCTGTGATATGGTTTGGTTGTGT CCTCACCCAAATCTCTCACCCTTTAGGAAATGACTAGATCATGAAAGCTC CACCCTCATAAATGGGATTAGTTGGCTAGGCATCGTGGCTCACCCCTGTA ATCCCAGTACTTTGGGAGGCCAAGGCCAGTAGATCACTTGAGGTCAGGAA TTCGAGACCAGCCTGGCCAACATGGTGAAACTTGGTAGGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG01168.hp1 HG01192.hp1 others(6): Show HG00558.hp2 HG01168.hp1 HG01192.hp1 HG02145.hp2 HG03516.hp2 HG03831.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2	a0002 a0008 a0002 a0008	a0002c0001 a0008c0016 a0002c0001 a0008c0016	a0002c0001t0001 a0008c0016t0001 a0002c0001t0001 a0008c0016t0001	a0002c0001t0001g0002 a0002c0001t0001g0010 a0008c0016t0001g0002 a0002c0001t0001g0002 a0002c0001t0001g0010 a0008c0016t0001g0002	9	428	0.0210	-2043	c.58 others(11): Show c.5804_*7846del		RETREG2	ENSG00000144567.11	transcript	ENST00000430297.7	protein_coding					2958		chr2	TogoVar
MAGEA4_chrX_151907889_151930170	151914676	CCCTCCAC others(2035): Show CCCTCCACCAACCTCACCCCTCCCACCCCCATGGATGCTGAATTGGGTTG CGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCACCGACCTC ACCCCTCCCACCCCCTTCCACGCTGAATCGGGTTTCCGCTTCCGCTTTCA ACCCAAGAAAGTCCCAGGTGCCCGGATGTGATGCCACTGACTTGCGCATT GGGGGTTAGAGAGAAGCGAGCTGCTCTGACCAGCCGCTTGGGATTGGCGG AGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAGATGCTGAGGGAG GACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAATAATCCCGCACC ACTCCTGCTACCAGCCGTGGGCCACCTGTGGGCGGACTTCTGAGTCTGGG GCGCCCACCACCCCACTGCCTCTGAAGTCGCAGAGGACTCTGGAGTCAGA GCTTAGGGTGTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCAGGCATC AATCTCAGGACCGTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCAT CCCCCATCACGTCCCCTTTCCCATTACCATTTGCACTCCTAAACCCATCC GCGCCCCCATCCCCCACCAGCACTCCTCCTCGACCCCCCACCTCTGTCAT ACCGCCATCTGCCACCCCAAAAACCGGGGCCCCTCCACCAACCTCACCCC TCCCACCCCCATCCACGCTGAATCGGGTTCCGCTTCCGCTTTCAACCCAC TCCCAAAAACCCGCCCCCTCCACCGACCTCCCCCCCACCCCCATCCACGC TGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAGAAAGCCTCAGGGGCCC GGATGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTG CTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGAAGCAGGCCAGGCCCTG TGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCAGGAGGCCACCACCCCA GATAGACGACCCCAAATAATCCTGCACCACTCCTACCTGCCGTGGGCCAC CTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACCACCCCACTGCCTCTGA AGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGTGTTTAGTGTAAGACTA GTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGGACCCTAAGAGAGGGCT AAGCGTACCCCACCCCTATTCCCATCCCCCACCACGTCCCCTTTCCCATT ACCATTTGCACTCCCAAACCATCCACGCCCCATCCCCCACCAGCACTCCT CTCCTCTTCAACCCCCCACCTCTCTCATATCGCCATCTCCCACCCCAACA ACCCGGGCCCTTGTACCAACCTCACCCCTCCCACCCCCATCCACACTGAA TCACGTTCCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTCCA TCGACCTCACCCCTCCCACCCCCATCCACGCTGAATCTGATTTCCGCTTC CTCTTTCAACCCAAGAAAGCCCCAGGGGCCCGGATGTGATGCCACTGACT TGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGTCTGACCAGCAGCT TGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGGTGAG ACGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCCCAAA TAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCCGTGGGCGGACT TCTGAGTCTGGGGCGCCCTCCACCCCACTGCGTCTGAAGTCGCATGGGAC TCTGGAGTCCGAGCTTGGGGTGGTTAGTGTAAGACTAGTGAGGGCAGGCT CTACGAGGCATCAACCTCAGGACCCTAAGAGAGGGCCAAGCGTACCCCAC CCCTATTTCTATCCCCCACCGCCTCCCCTTTCCCATTACTATTTGCACTC CCAAACCCATCCGCGCCCCTATCCCCCACCAGCACTCCTATCCTCAACCC CGCACCTCTCTCACACCGCCATCTCCCACCCCAAAAACTGGGG	C C	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	342	0.0029	-2042	c.-13 others(19): Show c.-138+1710_-138+3751del		MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM149A_chr4_186099704_186180337	186173694	CAGCAGCA others(2034): Show CAGCAGCAGCAGCAGCAGCAGCAGCGACCACCAGGTCCATGCCTCTTTTC CGTGGTCACAGCTCCATGTGTCCGGGGAAGATTGCTAATGCTTAGTTTCC TGCACAAAGCAAACCAAAGCATTTTTGAGAATTTTCTACATTATTCCTAA ACATTAGCAATAGAAACTTTTAAGAGCAAATGCCAGTCTTAATTCAGCAG CTCTCCCACTTGAGGAATAGTTAGATATGTGAGTAGCCTGGAGCCCATGT TATAGGGCTGCTGGTTAGGTGCTCTCTGGTGCATCATTACTGCTCAAAGC ATGACCCACTTGCTCTTTCAGATCCACTCAGGGTATTTTATGTCCATTTC CAGGAACCATCCAACTCCTTCCCTATTCAGTCCAAACTTCCTTTTTTTTT TTTTTTACTTGAAGTTCAGGGGTACATGTGCAGGTTGTTACATAGGTAAA CTTGTGTCGTGGGAGTTTGTTGTACAGATTATCACCCAGGTATTAAGCCT AGTATCCATTAGTTATTTTTCCTGATCCTCTCCCTCCTTCCACCCTCCAC CCTTTGATAGGCCCTAGTGTGTGCTGTTCCCCTCTGTGTCCATGTGTTCT CATCATTTAGCTCCCACTTAGAAGTGAGAACGGATGGCATTTGTTTTTCT GTTTCTGCATTAGTTTGCTAAGGATAATGACTTCCAGCTCCAGCCATGCC TCTGCAAAGGACATAATCTCATTCTTTTTTATGAGCTCAAGCTTCGTAGT AGGGAAAACACCGGATATTCAGTCTAAACTAACATTAAGGTAGGGTATCC AAGATAAAATGTTTTTTCTTTGAAAACCACTGAATATACTTTATGGTAGC TTTACCTTGTTTGGCTCCAGAGGTTTGCAAATAAGAATCTATTATTTATA TATATATATTGGTAAAAGACAAAATATTTTTTAAAAAGTGATCTTGAGTC TTCTAAACATTAAATTGGAAGATAAAGTGCCATTTTAGAGATTACATAGA GACTTGGCCCTGTCATTGATTTTAAAAATGACCTTCTCATTGCACTGATT TTTACTCCATGTTAAAGTTAGTATTTTATTTATACATTAAATTAGATTTA GAGATTAGTAAATAATGCTTATATCAAGGATGGTGCTTTTTAAGCTAATT AGGTAAAAATTAGGGCAGTGTTTTATAATCTACTTTAATAAATGAGTCTT ACCTTAGAATTAATCTATTAAAAATTAAAAAAGAAAAATTGAACTACTTC TGAGATAGATTTTTAAATTCAGATTAGTGAATTTTACACTAATTGAATTA CATTAATTAAAATGCCTGTTAGTTTATCCAAAACCAAAGAAAGAATGAAG AAATTTTAAAACAATCTAAGAAAATGTAAAATACCATAGAAAACTGCTAG ATTTTGTGAATTTAATATAAAAGGAAGTATCCATATTGATATTATTCTGA ACTAGATGGAATTTCTACACCAATTCAGAAGTACGTTTTTATATATCATT TGGATATTATATTTTTTATTGTTTTATTATAACTACAGATCATTGTGTAG GATTTTTGATTCCTTAATTTCTAATAAAATATAAAAGTGTTAAAAGAGTT TTCAAAAATGTGTAACATTTATAAAAGTATTTTTAGATTCCCAATTTTTG TATCATTTGTGCAAATATCTCTCTATTCTGCAGTTTCTAATACATAGGTA TTTATTATTTCTAACTACATAGTAAACTTTCCCCAGTAAATTCTAAGTAT ATGTCCATATATATTTGCAAAGGCTTTACATAATTTATGAATACTCCGTT GTAATGTTTGTTTCAGAAGATTATGCTCCTGTGTGGTAATCATCATGGAT TTGATTTCATCAAACATTTATTAAGCACTTTCTTGGTGTAAGATTTTGTT CTAAGCATTATAGTGAACAAGACAGTCTTTGGCCTAAAAGAACTTAGATT GTAGTGGAGGCGACAGACTATAAACAATTAAATAAAAACATGATACAGGT CAGTTAGCAATAAGTGCTATGAAGAAACAAAGCGAGGCAAGG	C C	splice_region_variant splice_region_variant	LOW	NA19062.hp1 NA19062.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0053 a0006c0023t0053	a0006c0023t0053g0129 a0006c0023t0053g0129	1	388	0.0026	-2041	c.17 others(11): Show c.1708_*3748del		FAM149A	ENSG00000109794.14	transcript	ENST00000706927.1	protein_coding	14/14						chr4	TogoVar
SMYD3_chr1_245744347_246512279	245974745	GGCCCAGG others(2033): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCC CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATC GTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCC GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTGGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTGTAGCCTAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATC GTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCATCTCTAGCCTAGGGAAAGCCATCGTCTGT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCA TCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATC GTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGT CTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCT CCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCT AGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAG CCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCAGG GAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	139	0.0072	-2040	c.532 others(19): Show c.532-46848_532-44809del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
MAGEA4_chrX_151907889_151930170	151914810	TCCGCTTC others(2032): Show TCCGCTTCCGCTTTCAACCCAAGAAAGTCCCAGGTGCCCGGATGTGATGC CACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTCTGACCAGC CGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGTGAGGAGTCAAGG TGAGATGCTGAGGGAGGACTCAGGAGGCCCCCACCCCAGATAGACGACCC CAAATAATCCCGCACCACTCCTGCTACCAGCCGTGGGCCACCTGTGGGCG GACTTCTGAGTCTGGGGCGCCCACCACCCCACTGCCTCTGAAGTCGCAGA GGACTCTGGAGTCAGAGCTTAGGGTGTTTAGTGTAAGACTAGTGAGGCCA GGCTCTGCCAGGCATCAATCTCAGGACCGTAAGAGAGGGCTAAGCGTACC CCACCCCTATTCCCATCCCCCATCACGTCCCCTTTCCCATTACCATTTGC ACTCCTAAACCCATCCGCGCCCCCATCCCCCACCAGCACTCCTCCTCGAC CCCCCACCTCTGTCATACCGCCATCTGCCACCCCAAAAACCGGGGCCCCT CCACCAACCTCACCCCTCCCACCCCCATCCACGCTGAATCGGGTTCCGCT TCCGCTTTCAACCCACTCCCAAAAACCCGCCCCCTCCACCGACCTCCCCC CCACCCCCATCCACGCTGAATCGTGTTTCCGCTTCCGCTTTCAACCCAAG AAAGCCTCAGGGGCCCGGATGTGATGCCACTGACTTGCGCATTGGGGGTT AGAGAGAAGCGAGCTGCTGTCTGACCAGCAGCTTGGGATTGGTGGAAGGA AGCAGGCCAGGCCCTGTGAGGAGTCAAGGTGAGACGCTGAGGAGGACTCA GGAGGCCACCACCCCAGATAGACGACCCCAAATAATCCTGCACCACTCCT ACCTGCCGTGGGCCACCTGTGGGCGGACTTCTGAGCTTGGGGCGCCCACC ACCCCACTGCCTCTGAAGTCGCAGGGGACTCTGGAGTCAGAGCTTGGGGT GTTTAGTGTAAGACTAGTGAGGCCAGGCTCTGCCGGGCATCAATCTCAGG ACCCTAAGAGAGGGCTAAGCGTACCCCACCCCTATTCCCATCCCCCACCA CGTCCCCTTTCCCATTACCATTTGCACTCCCAAACCATCCACGCCCCATC CCCCACCAGCACTCCTCTCCTCTTCAACCCCCCACCTCTCTCATATCGCC ATCTCCCACCCCAACAACCCGGGCCCTTGTACCAACCTCACCCCTCCCAC CCCCATCCACACTGAATCACGTTCCGCTTCCGCTTTCAACCCACCCCCAA AAACCCGCCCCCTCCATCGACCTCACCCCTCCCACCCCCATCCACGCTGA ATCTGATTTCCGCTTCCTCTTTCAACCCAAGAAAGCCCCAGGGGCCCGGA TGTGATGCCACTGACTTGCGCATTGGGGGTTAGAGAGAAGCGAGCTGCTC TGTCTGACCAGCAGCTTGGGATTGGCGGAGGGAAGCGGGCCAGGCCCTGT GAGGAGTCAAGGTGAGACGCTGAGGGAGGACTCAGGAGGCCCCCACCCCA GATAGACGACCCCAAATAATCCCGCACCACTCCTGCTACCAGCCGTGGGC CACCCGTGGGCGGACTTCTGAGTCTGGGGCGCCCTCCACCCCACTGCGTC TGAAGTCGCATGGGACTCTGGAGTCCGAGCTTGGGGTGGTTAGTGTAAGA CTAGTGAGGGCAGGCTCTACGAGGCATCAACCTCAGGACCCTAAGAGAGG GCCAAGCGTACCCCACCCCTATTTCTATCCCCCACCGCCTCCCCTTTCCC ATTACTATTTGCACTCCCAAACCCATCCGCGCCCCTATCCCCCACCAGCA CTCCTATCCTCAACCCCGCACCTCTCTCACACCGCCATCTCCCACCCCAA AAACTGGGGCCCCTCCACCAACCTCACCCCTCCCACCCCCATGGATGCTG AATTGGGTTGCGCTTCCGCTTTCAACCCACCCCCAAAAACCCGCCCCCTC CACCGACCTCACCCCTCCCACCCCCTTCCACGCTGAATCG	T T	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0004 a0002c0001t0001g0004	1	342	0.0029	-2039	c.-13 others(19): Show c.-138+1842_-138+3880del		MAGEA4	ENSG00000147381.12	transcript	ENST00000276344.6	protein_coding	1/2						chrX	TogoVar
MACROD2_chr20_13990516_16058197	15321085	GTTTCAAA others(2030): Show GTTTCAAAATGCATGCCATCCTGATGACAGGCCACTCGTTGTGGCCTTAT GGCAAAGTCAGTTGATAGGGCTGCCAGGCAGACAGTGAGCAGAATTCTTT CTGGACTCTGTTCCTGCTTGTTCTTTTTTTCTTTTGTGTTTTGGAACTTC CCTTGACTTTGGTCCCATTTAGTTTCCCAATGTCTAACTTGCATTTACCC TTCTTTCACAGCTTGCTCACCTTTAGCTTCTATCTGACTAGGTCTTTGTG TTTTCATTTTGCCCTCTCAACAAACTATTTCTAGTCCTTAGCTCAGTAGC TTCACTGAGCAGGCCCATAAACTCCCTTTTGCCATTTCCACTTCCCAGTC ATATCTTGAAGACTTCCAACTTAAACACATTAATTTATGCTTGGGATGAT TGTTAAAATTTCTCTATTCCTACATCTTGTAATTAGCTTAGCTGATTTTT AAAACAAATCCTCTAAGAATTATTTTTATGAAGGCCATCTGGTAAAACAA ATTAATCTCCAAGGAATGTTAATCAGACTAATTGCTAATTAGGTGTCCTC CTTGATTCTATTAGTTATAGATTGGAAAGTGTTTGTCATATACATTAATT TTTGCAAAGATAGTGAGAAAACATTATTTTTTGCCCTGCAAGAGAACAAG TGAATCCATTTGCATGTATAATGTATGTGTGTGGTGATATTAAAAGATAT CCATTTTTTGTTGTTGTTGTTTTTTTGAGACAGAGTCTCACTCTGTTGCC CAGGCTGGAGTGCAGTTGCATGATCTCGACTCACTGCAACCTCTGCCTCC TGGGTTCAAGTAATTCTCCTACCTCAGCCTCCCAAGTATCTGGGACTACA GGCACATGCCACCATGCCCAGCTAATTATTGTATTTTTAGTAGAGACAGG TATTCACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTTGTGATCTG CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCAC CCGGCCACTACACACAGTCTTTAAACTTAAGGGGTTGAAATTTATTCTAA TTGTTAGTGTCTCAGCTTCATTATTCCTCAAATGGTTTTGTGGTTCATGG AGCTTCAGAAATATGTTTTTAAACATACAAAAAAAATGCCAGTGGATTCA ACTCAATGAAAGATGGCAAATGAGTTTAATTTTATATACCAATGGTCTGA TAGGAATTACCTTGAGTATATTGTAGAGAATGCCTGGGTGGGACGGGGAT ATTTACCATGCACTCACTATGCTCCTCTGTAATGGACTGAGTAGTGATTC ACAAAAATGGAGCCACAAATAATAAAAAATCATTTGTGCTGACCCTGAAA ATGTGAGCCTCAAAATAAGACAAAATTAATCAGAACCAGACAAACTTTAA GGGAAACCCTAGTTCTTTATTGAAATGTCTTTGTGCCAAGGTAGTTAAGT GAAAGAATGGATGAAAACCAAAATTCGTACTCTCCCCCGCTCAACTATTT AGCCTGAGGTAATTATTCACTTATGGAAAGGAGTGAGTATTTTTGGTCAA AGTAATTTAGGTTTTATGAATGATTTCTTCCTGTGGTTTTATACATATTT GTAGAGAGTATGAATGACATTCTCCCTGAATTTGTCTTCTATTTAGTGGT GGATTGGTTTCACAGTTGTATGAGACTTCAGGGATCTTCCTTTTTCCTCT TTTGTTGTGAATTCTCTTTTTATAATAGAAGCATGAAAAAAGTCTGCCTA TTAGAAATGTGACCTTGGAATCCATGAATCCATGAATCCATATTTGGAAT CCATATTTATAAGAAATGAAATGTGGTATCAAGGAAGGAATTTTGTCTGG AAAGTCAGATCTGAATTCTGGTCCTGCCTCTCTGTCAGTGAGCCCTGTGG TTGTGGCTAAGTTGTTCCATGGTCTCTAATGACCTCAACTATGAAATAAG AGCTTGGGGTTCAGTTTTTAGGTAGAATAATGCTGTATGTTGATGTTGAC ATTCTGCCATTCTGCAGTGATATATTGCTTAATTTGCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 NA18970.hp2 others(1): Show HG01081.hp1 HG01168.hp2 NA18970.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0004 a0002c0002t0007 others(1): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0007 a0002c0002t0008	a0001c0001t0002g0015 a0001c0001t0004g0016 a0002c0002t0007g0013 others(1): Show a0001c0001t0002g0015 a0001c0001t0004g0016 a0002c0002t0007g0013 a0002c0002t0008g0023	4	24	0.1667	-2037	c.540 others(19): Show c.540+91028_540+93064del		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
TOX4_chr14_21472195_21504170	21484465	CAGCCTCC others(2030): Show CAGCCTCCTGATGTAGATGGCATTACAGGCACCTGCCACCACACCTGGCT AATTTTTGTATTTTTAGTAGAGATGGATTTTCGCCATGTTGGCCAGGCTG GTCTCGAACTCTTGACCTCAGGTGGTCCACCCACCTCGGCCTCCCAAAGT GCTGAGATTATAGGCATGAGCCACGGCACCCGGCCTTTATTTTCTTTCTT TTTCTTTTTTTTTAGACATGGTCTTGGTCTGTCGCCCAGGCAGGATTGCA GTGGTGCAGTCTTGACTCACTGTGACCTCTGACTCCTGAGTTCAAGTGAT CCTCGTGCCTCAGCCTCTCGAGTAGCTAGGATTATAGGTGTGTGCCACCA TGCCTGACTAATTTTTTGTTCTTTTGGTAGAGACGGGTTTCACTGTGTTG GCCAGGCTGGTCTCGAACTCCTGGCCTCGTGTGATCCGCCCACCTGGGCC TCCCGAAGTGCTGGGATTACAGGCGTGAGCCACTGCTCCCAGCCTAATGT CTTCATTAAACCAGAATTAGAGGCTGGGCGCTGTGGCTCATGCCTGTAAT CCCAACAGTTTGGGAGGTCAAGGCAGGGTGATGGCTTGAGCCCAGGGGTT CAAGACCAGTCTGGGCAATATGGCCAGACCCAATCTCTACAAAAAATGCA AAAATTAGCCTGGCGTCATGGCCAGGCGTGGTGGCTCACGCCTGTGATCT CAGCACTTTGGGAGGCCAAGGAGGGCGGATCACCTGAGGTCGGGAGTTCA AGACCAGCCTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAA ATTAGCCGGGCATGGTGGCACATGTCTGTAATCCCAGCTACTAGGGAGGC TGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCGGTGAGCTG AGATCACGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCT CAAAAATAAAATAATAATAAAAATTAGCCTGGCATGGTGGTGTGCACCTG TAGTTACTTGGGAACCTGAGGTGGGAGAATCACTTGAACCCAGGAGGCGG AGGTTGCAGTGAGCAATATCACGCCACTGCATTTTATCATGGGTGACAAA GGAGACTCTATCTCAAAAAAAAAAAAAACTGCCAGGTGCGGTGGCCCATG CCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACGAGGTCA AGAGATCGAGGCCAACATGGTGAAACCCCGTCTCTATTAAAAAACACAAA AATTAGCTGGGCGTGGTGGCACACACCTGTAGTCCTAGCTACTCTGGAGG CTGAGGCAGGAGAACTGCTTGAACCCGGGAGGTGGAGGTTGTAGTGAGCC AAGATCGCGCCACTGCACTCCAGCCTGGGCCACGGAGCGAGACTCTGTCT CAAAAAAAAGAAAAAAAAAAAAAGACAGAAATGGTCATAATAGAAGAACA TTTCAGGATCTAGAGGAACCTTGAGGTCTGTAAGCCCAACACTTTGGAGG CCGAGGCAGTAGGATTACTTGAGTCCAGGAGTTCGAGACTAGCCTGGGCA ACACAGGGAGAGCTCGTCTCCACAAAAAATTTTAAAAATTAGCTGGGTGT GGTGGCACATACCTGTAGTCCCAGCTACTCGGGAGGCTGGGGCTGGAGGC TTGCTTGAGCCCAGGAGTTCCAGATCAGCTTGGGTGACAGGGCAAGACCC CATCTCAAAAAAAAAGAAAAGGAACCTTTAGGAACTCTATTTAAAGAATG CATTGTTCAATTATGAAAAAAAAAAATGTTGGTACCTATTGAATTTGATC TGAATCAGTTTATATTTACTATGCTATGTGTTAGATTGATAGAATTTAAA GTTTCTAAAATTCCAATTATCTGTTATAATTGGTTGGGGTGGGGGTAATC ATTATTAGGATATTATCATTCATAACAATGGTTAATGATGGTGATTAAGC CATTATATGTATCAGGCAATGTGCTAAGATTTTATGCATGAAATCTCACT TATCCTCATAATAACCATATAAGGGGATTACCATTATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00423.hp2 others(205): Show HG00099.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp2 HG01884.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0003 a0002c0004t0010	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(111): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0054 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0187 a0001c0001t0005g0001 a0001c0001t0005g0002 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0036 a0001c0001t0005g0040 a0001c0001t0005g0111 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0001t0005g0121 a0001c0001t0005g0129 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0137 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0010g0011 a0001c0001t0010g0021 a0001c0001t0010g0034 a0001c0001t0010g0098 a0001c0001t0012g0002 a0001c0001t0013g0150 a0001c0001t0013g0163 a0001c0001t0015g0034 a0001c0001t0019g0125 a0001c0001t0020g0001 a0001c0001t0021g0023 a0001c0001t0022g0001 a0001c0001t0023g0126 a0001c0002t0003g0018 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0052 a0001c0002t0003g0053 a0002c0004t0010g0011	208	398	0.5226	-2037	c.76- others(14): Show c.76-2984_76-948del		TOX4	ENSG00000092203.15	transcript	ENST00000448790.7	protein_coding	2/8					INFO_REALIGN_3_PRIME	chr14	TogoVar
CTNNA1_chr5_138748425_138940034	138900379	TTATGAGA others(2029): Show TTATGAGAGTCAGTCATTAATTTATTATCAAGAACAAAAAGAAATCTTAT CTTGTCTTCCTACAAACATTCCAGGATAAGAGGAACTCAGCCAAATAGGA AGCCAGGAGCAGTTAAGGAAGTGGGAAACAACTTGTGTTCGACTTCAGTA AATCATAAATCTATGTATAATAGAGAAAAATAGTCATTATGGTTACAGAA GGAGCAGGATTGAAATAAAGTCATAATGGGATTTTTTCCTAAATGAAACT TCATTTAACAAATTTTATGTAAGTAAAGATCATCCATCGTGGAGTAAAGG TAGAGCCTTCCTAAAAGACTGAAAAAGTTGTCTGTCATGTACAGATGTCT AATCTGTTGATCTGACACAGGGGGGCTGTGAGTCATTTCCTCAACAGCTC AGATTTGAGCTTGGGTTTTCCTGAAACCAGCAAAACCCAAGGCCGATTGT TTAAATGTTTTCTGAAACCTGCTCTTCCGCAAGGTCCAAACTTCCACACA GTAGGCACAGATGGTACAAAAGAGGGCTGCCTGATCTCAAACTAGTGGTT GTGGTGTCAGTCTTAGCCTACCTCTTCGAATAGTGGGAATCAGAGACATT TTAGTTGTTAATACAAGTAACTGTGGTAGGAAAGATAATAATTTATTCTC CTAACAAATCCAGAGATACTTCTCACTGTTCTACGAAGTCTTGGCTCTGC TGGGTTCTCTGTGGAAGTTAACTGCTCCAAGTGTTTTTCTTTTCTCTTCT CTTCTCTTCCGCTCCCCTCCCCTCCCCTCTTTTCTCTTTTCTCTTTTTTG AGAGAGTCTCGCTCTGTTGTCCAGGCTGGAGTGCAGTGGCGCCATCTCAG CTCACTTCAACCTCCACCTCCTGAGTTCAAGCAATTCTCATGCCTCAGCC TCCCAAGCAGCTGGGATTACAGGGGCGTGCCACCACGCTGGGCCAATTTT TGTATTTTTAGTAGAGGTGAGGTTTCACTATGTGGCCAGGGGTGGGTCTC CCAACTCCTGGCCTCAAGCAGTCCGCCCACCTCGGCCTCCCAAACTGCTG GTATTACAAGCATGAGCCACCACACCCAGCCTCTTTCTTTTTTTGGGACA TGGTCTTGCAGTCATGGCTTGCTGCAGCCTCGACCTTCTGGGCTCAAGCT ATTCTCCCAACTCAGCCTTCCAATTAGCTGGGACTATAGGTGCGTGCCAC CACACCCAGCCAATGAAAAATTTTTTAATGTATAGAGATGGGGTCTTGCT ATGTAGCCCAGGCTGGTCACAAACTCCTAGCCTCAAGTGATCCTCTTGCC TTGGACTGGAAGCCACTGCACCCAGCTCAGAGTGTTTCTCATTCTAACCT CAGGATCTTCTTTAGTCTCATTGTTAATAGTTACGTCATTCTAGAGCCCC AGATTTTCCACAGAAAGAGGCATTTAGGAAGCTCCTCTCCTCGCCCTCTC CTTTCACTGTAGTCAGGCCTGACACTAGTATGTGAGGTTAGCCTCTCAGA GAGCTATGGTCATGATGTTGCATTTGCACATTTGTCATTGTTAGAAGTGA GTAGCCCTGTCCCTGGGGGGTGAATTGAAGCTCATTCATCTGGAGAAGAC TGTTAGTGACAGGCACTCCTTCCTCCTCCCAGGCCTCCTGAAATAGGCAG TGTGCTCTTGTAGAACATTACTGCTTCAACAGTACACCAGAAATATTTTA AAGTAATGTTTTAAAATAAAGAACAAGTCTTCCATAACCTTTGTTTTGTT AGTGTTTGTAATCATGAAACAGAAAAGATGGTTTAACAGCCATTTCAGCC TTAGCCACACACTACCCTCATGTGTCTGATGTAGAGAGTACTTACGTAAT CTTTTGCTTCTTTTTTAAAAATCTTTTGCTTCTTAATTTAAATATTTTTC TGAGTTTTAAGGATTCATAAGATTGAGAATATAGATTGAAATAAGATTGT GCTAGTAGTGACTGTCCTGGATCCAGCATTCAAGTGGCCTCCTAAATGAT TGGAATAGGCAGGGTGCTGGGCACCTCACCAGGGATC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0020 a0001c0002t0003g0020	1	178	0.0056	-2036	c.129 others(19): Show c.1297-3968_1297-1933del		CTNNA1	ENSG00000044115.21	transcript	ENST00000302763.12	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr5	TogoVar
PRKCZ_chr1_2045411_2190395	2121830	GTGGTAGT others(2029): Show GTGGTAGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGCTGTAGTTAGCG TCATGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTT AGGGTCACGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTAGT TAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAG TTAGGGTCGTGGTGGTTAGGGTCATGGTGGTGGTTAGGGTCACGGTGGTG GTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTGGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTGGTTAGG GTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTTAGGGTC GTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGT CGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGG TTGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGG GTCATGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAG GGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTA GGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGG GTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCGT GGTGGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGG TGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTG GCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGT GGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCA CGGCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTGGTTAGG GTCACGGTGGTAGGGTCGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGTTC ATGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGT CACGGTGGTGGTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGTTA GGGTCACGGTGGTGGTTAGGGTCACGGCGGTGGTTAGGGTCACGGTGGTA GTTAGGGTCACGGTGGTGGTTAGGGTCACGGTGGTAGGGTCGTGGTGGTT AGGGTCGTGGCGGTGGTTAGGTTCATGGTGGTGGTTAGGGTCGTGGTGGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCATGGTGG TGGTTAGGGTCACGGTGGTGGTTAGGGTCGTGGTGGTTAGGGTTGTGGTG GTTAGGGTCGTGGCGGTGGTTAGGGTCACGGTGGTGGTTAGGGTTGTGGT GGTTAGGGTCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTTGTGGTGG TTAGGGTTGTGGTGGTTAGGGTCGTGGCGGTGGTTAGGGTCGTGGCGGTG GTTAGGGTTGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGTGGTAGT TAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACGGCGG TGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGGTCACG GCGGTGGTTAGGGTCACGGTGGTAGTTAGGGTGGTGGTGGTTAGGGTCAC GGTGGTGGTTAGGGTCACGGTGGTAGTTAGGGTCACGGTGGTGGTTAGGG TCGTGGCGGTGGTTAGGGTTGTGGTGGTTAGGGTCACGGCGGTGGTTAGG GTCACGGTGGTGGTTAGGGTTGTGGTGGTTAGGGTCA	G G	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18997.hp2 NA18942.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0098 a0001c0002t0001g0102	2	257	0.0078	-2036	c.335 others(19): Show c.335-13431_335-11396del		PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17						chr1	TogoVar
AHI1_chr6_135278532_135502740	135287747	TGAAACTA others(2027): Show TGAAACTAGGTTAGTGTTTGTGTGTATGTTATGTCTGGGGAATAAGATTC ATAAAAATACCGGGCCGTGGCCGGGCATGGTGGCTCATGCCTGTCATCCC AGCATTTTGGGAGGCTGAGGCGGGTGATCACTTGAGGTCAGGGGTTTGAG ACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAATACAAAAAT TAGCCAGGTGTGGTGGTGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCACTTGAATCCAGGAGGTGGAGGTTACAGTGAGCCAAG ATCGCACCATTGCAGTCCAGCCTGGGCAACACAGCAAGACTCCCTCTCAA AAAAACAAAAACAAAACACAACAAAAAAACCTGGACCTTACCCCACAAGA CATTCAATCCAATAGATCTTTCCTGAAGGTTTACTTCTGTGGCAAGACAC CAGGCTAAGTGCAGGGGAGGAAAAAAATGTGAGTATGTATTAAATAATAG CCCCTGACTGGAAGCACTGGCCATCTAATCAGAGTTAATATACAAAGCAA TGTGTAAGAGAAACAGCCCTGAACTTGGGGCAAGAAGATTAATTCCTAGT TCAGGTACTTTGTAGCTGTAACTTTGAAACCTTGGTTTCTTTAAATGTAG AAACAACACGCTGTATTAGAAAATTTCTAAAAATTACATTCATTTTGAAA GAAATGATCAAGTAGTAAATATACAGTAAGTAGATAAATTAGAAAATGCA CAAAGTTAAAATAGAAGAAAAAAATTACCATAATCTTACTACTCAGATAA TTATTCATGTCTTTTGATGTATATTATATAAACTATTTTATAATCATTTT TTACTTAAAAATCATAAACATCTTTTCATGTCCATAAAAATACTTCCATA ATATGATGAATAACCATATGATATTCTGTTATATAAATATTTCATATTTT AATCAACCCTTTATTTTAAAAACACTGCTCGAAGGAGTAGCCTTTTAACT AAATCTCTCCATGTATACTTGAATACTTTCCTATAAGAGATTCCTTGAAG TTGAACTGTCAGGTCAAAGAGATGCACATTTTGAAAACAAAACAAAACAA AAAAAAAACCCTAACATATTACCTAATTATACTTCACAAAGAATGGATCA ATCTTATAGTATTACCAGCAGTGTAAGCGGGAATCCACATCCCATTTTCT CATCAATACTAGGTATGTATCATAAGTTTGAAACTTGTCATTTTGAAAGG GTAAAATACCATCTCATTTTATTGTTTTAATTTTCATTAATTTGATCAAT GGATGGTAAACATTTTTCATATGTCTGTTGCCATTTATATTTATCCCTTT AAGAATCCTTTAAGAATGTCCTGTGTATATCTTTGTCCCGTTTTTCTACT GGTGTATTTTTTTTCTTGTTGAAAAAGCTCCTCTTAGAGCTTTTTATTTG TTAAGGGTATTACTCCTGGCCAGGTGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCTGAGGCAGGTGGATGGCTTGAGGTCAGGAGTTCAAG ACCAGCCTGGGAAACATGGCAAAACCCTGACTCTATTAAAATACAAAAAT TAGCTGGGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATCACTTGAACCCGGGAGGTGGAGACTGCAGTGAGCTGAG ATTGCACCACTGCATTCTAGGCTGGGTGACAGAGCAAGACGTCTCAAAAC AACAACAACAACAAAAAAAAGAGTATTACTCTTCCATGGGTAAATCTCTT CCATCCCAGGTTATTGTTCATTTAAAAATTCTATGACTTTTTTTCTTTTT GACCTGCATAATTTTAAAGTTTCCATTATTTAAGAATCTGTTTTATAATG TTTTCCAATTCTGGTATCAAGGTTAAAAATAATTCCTTAGCCCATGATTA CATAACTATGCATCTATATGCTTCTGTACAATTAGATTTTAGTTTTCTAC AATGGAAAAATAAAAATATGAAAATTTTGACTCTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02922.hp2 HG00639.hp1 HG02922.hp2	a0001 a0001	a0001c0013 a0001c0018 a0001c0013 a0001c0018	a0001c0013t0007 a0001c0018t0007 a0001c0013t0007 a0001c0018t0007	a0001c0013t0007g0168 a0001c0018t0007g0175 a0001c0013t0007g0168 a0001c0018t0007g0175	2	218	0.0092	-2034	c.358 others(18): Show c.3588+642_3589-2101del		AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	28/28						chr6	TogoVar
DHRSX_chrX_2214506_2505976	2278138	AAGAGAGA others(2026): Show AAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCA AACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAA AGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGA GAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGA GGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGG GGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAG GGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAG AGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGA GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGG AACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGA GGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGG AAAGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGC AAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGA AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAGAGAGAAA GAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAG GAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAG AGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	48	0.0208	-2033	c.388 others(19): Show c.388+11331_389-11192del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
GOLGA8B_chr15_34520095_34588651	34558804	TGCTTGCA others(2026): Show TGCTTGCAGGTGGCCTCTGATTCTGCCTCTGGAGCCTGTCTGCCCCCTCT TGATTCATTCATTGGGTCCCAAATATGTGAACAATAGCATGCTAGCCACT TTTAGAAATATTTGTGTTCATCTTCAAGAGAGGGGGGTCATCCAGCCATT CCCCAGCCCTCAAAACCCACTCCACAGACAAAGCAGTGGCGGGTCAGGGC TCCTCTTGCTCTTCTGAGCCGCTGGCATAGCGAACACGGTACAAAATAAA AGGATTTCACATGCAATAGAATTTCATTCACCCTGAAAAGGGAAGGAAAT TCTGACACAGGCTACAATATGGATAAACCTTGAGGACATCCTGCTAGAGC CAGTCACAAAAGGACAAGTACTGTGTCATTCCACTTCTCTGAGGCACCCA CAGTAGAGTCACAGAGACAGGAAGTAGAATGCGGGTGGCCAGGGGCTGGA GAGAGCAGGGAGTGGGGAGCTGGTGTTTAATGGGTGCAGAGGTTCTGTTG TGAAGATGGAAAAGTTCTGGAGATGCATGGTGGTGAAGACGGCACAACAG TGTGAATGTACTTAATGCCACTGAACTCTACACCTAAAAATGGTTAAGAT GATAAATTTTACATTATGTATATTTACCACAATAAAAGAAATAAGAAATA AAAGGTTTTTGGATGATGAACGGGCTCGAGCCAATTTGGACCCTCTAAAG CTAAGTTGAGCCAGGCTGAACCCATGTAGCCAGAATCATACTGGATTAGG CTGTTCTAGCACTTCACGTGGTGAGAATGGGGGAGAGAGAGAGAGATTGA TTGATCAGGGGGCTGTGCAGGGGGCGTGCTACACACTTGTAAACAGCCAG ATCTCTTGTGAACTCAGAGCAAGAGTTCACCTATCACCAAGAGGATGGCC CAAGTCATTCATGAGAGATTTGCCCCATGATCCAGACACTTACCTCCCAC CAGGCCCCACCACCAGCATTGGGGATTGCATTTCAATATGAGATTGAGGT GGGGACAAATATCCAAACTGTATCACCCACAAAGAAGCAAAAACATTTTG GGCCAAATCAAAACTATTTTGATGTAGCCACAGTAGGGATGAGCTGTGAT TACACCCATTCAGGCCTGTGGACCTGCGGACCTGGCGTGTGTGGTCGTGG GGCGGTGCGTGGGCACATCCCTGGGAGGTTTCAGGAGGACATTCAAGACC AAAATGAGCCATGAGTAAATAATACAACCACATCCTGAGTGGGAGTGGGG GAGCCTCCCCTTCTCTCCTAGGTCTTGTATGGGTCATGATCCCACCTTGG CAGGAGTGGAAGGAACACAGATCCTACAGGCTGTGGCTTATAGTAAAGTG ACTGTGGTCATGCCTTGTGAGTGTCATTAAAATAAACAGATATCGTTAAA TCCACTATCAAATAACAGCGATTTCTGCTATCCTTTCACCTTTTCCACAA GTTTAAATATCCCAGATATTCTACTGTGTATATTCCTAAAAGTAGACAGG TAGATTTAGTGAAGTTAACTGGATCATTGGTATCTTCTTTATAGATCATC TGGTGAAACTTGTTTTGCAAATTATGAGTTGTAGGCCTTTGTTTTAATGT CTGTAGCCTTAGGCAGTTCCATTGAGACTAACTCAGTTTTTTTCTTATTA GGACTAATCTTATTGACCGGAACTGTGGACTCCCCGTATTAGGAGAACAG AGATCTGGCCTGTGTAAATGAGTGGAAGTTAAATACTGTAGAAAATGCCC TCTGGAAACTGAAATCTAATGCTGACTTACTATTGGTCATTTAATTTCCT TCTGGCTTGGGCACCATCGTTACATTCATTTTTCAGATGTCAAGCTAGTT TTCTCAGAATGTGTGCAGGGCTCGAGGCCGAGTGTGGAGGCCACTGGGTG AATACAGGAGAGGTCACAGGTCAAGCCTCCTGCGAGAACTGCAGGCTTGA GCCTTCGATAGAGCCACGTGAATGATTTTTAGCCCCACTAGGTTGCTGTC ATTAAACTATGCACACAGGGCTTCTTGCTTTTAA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00558.hp1 others(40): Show HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01123.hp2 HG01361.hp2 HG01891.hp2 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG03491.hp1 HG03491.hp2 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04184.hp1 NA18946.hp2 NA18949.hp2 NA18956.hp1 NA18961.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18989.hp1 NA18994.hp2 NA18997.hp1 NA19004.hp1 NA19007.hp1 NA19011.hp2 NA19057.hp1 NA19074.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp1	a0002 a0003 a0014 others(3): Show a0002 a0003 a0014 a0019 a0022 a0023	a0002c0002 a0003c0003 a0014c0022 others(3): Show a0002c0002 a0003c0003 a0014c0022 a0019c0023 a0022c0014 a0023c0024	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(8): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0003c0003t0011 a0014c0022t0002 a0019c0023t0002 a0022c0014t0002 a0023c0024t0002	a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 others(38): Show a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0009g0040 a0002c0002t0010g0025 a0002c0002t0012g0032 a0002c0002t0013g0023 a0002c0002t0014g0038 a0003c0003t0011g0088 a0014c0022t0002g0037 a0019c0023t0002g0031 a0022c0014t0002g0041 a0023c0024t0002g0016	43	196	0.2194	-2033	c.-11 others(21): Show c.-1122-6881_-1122-4849del		GOLGA8B	ENSG00000215252.12	transcript	ENST00000683415.1	protein_coding	1/23						chr15	TogoVar
SLC17A5_chr6_73588379_73658992	73630875	CGTTTCTA others(2026): Show CGTTTCTACTAAAAATACAAAATTAGCTGGGTGTGGTGGTGCACACCTGT TATCCCGGCTACTCGGGAGGCTGAGGCAGGAGAGTCACTTGAAACTGGGA GGCGGATGTTGCAGTGAGCTGAGATCGTGCCATTGTACTTCAGCCTGGGC AAAAAGAGCAAAACTCTGTCTCAAAAGAAAAAAAAAAAAAAAGAAAAAAA GCAGTCCTGGGCTGCGGTAAGCTAAACTGTCCTGGTTCTAACATCTAGGC CTGGGGTTGTCCTGTTGAACCGAAACCAGGCCACTCTATGAGCATGCTGG AGCAAGACAAAAATAAGACCACTTTACAGTGAGCTGAGATCACCCCACTG CATGACAGTCCGGGAGACAGAGCGAGACCCTGTCTCTAAAAAGAAGAAGA AAAAGAAAAAAAACCACTCCACAGTCATGTCTGAGCACAGACAAAAACAC AAATGCCATAAACTACAAAAAATGCGAAACATCTTCCTCTCCCAGCTAAT ATGAGTGACTGCTGTGCCCTTACTAATCACAGCTTTACCCCACCTTCTAG ATAAAAATTCATCATAGAATTATCAAATCCAGAGCAAAATATTGATTCTT TAAACCCTTCCCAAAGTCACCTACTGCAAGTCTAAACTGCAACAAGTTCC TCTCAACTCTGCACTAAGATGCCCCATGGTTCTTCATGGTGTGCTTTCTT CCTCACTGCAACGAACCAAGAAACCCAACTTGTTCAACTACAAGTGTGTT CCTTTGGCCAAAAGGCACTGACACAAGGAAGCTTTTCCTGTCTGCCCCAG GCTGGCTGAGGACTGCCACCTTCTCTGTTCCAAAGATGTCCTGTACCTTA CAGCACTGCATTATGCAGGCTATATTGTATTGAAATTCTGTCCATCCATG TCTGTCTCCCTCTGGAGACCTTGGGCCCCACAGGAACCATGTTTTATTTT TTTCCTCTTATTCATTTTTAAGTCCTCAGCTGACAAAGAACCTAGGTCAT AGTAAAGTTTCAAAAAAAAATGTTTAAAGAATGAATGAGTAGATGCTGCA CATTTCTTGGGTCCAAGATTTAAAGATGCAGCTTCACGTAACACATCATT TTACAACACTGTCAACTATAACGTCATGTGCTTTAAGAATGCAGTCTGGT TGTACAAGGTGACTCATGCCTGTAATCCCAGCATTTTGGGAGTCTTAGGC AGGAAGACTCCTTAAGCCCAGCAGTTTGAGACCAGCTTGATCATCATAGC GAGACTCCGTCTCTACAAAAAATAATTAGCTAGGCATGGTGGTGTGCACC TGTAGTCCCAGCTACTCGAGAGGCTGAGGTGGGAAGACTGCTTGAACCTG TAGGGTTGAGGCTGCACTGAGCTGTGATGGTGCCACTGTACTCCAGCCTG GGCACTGAGCTAGACTCAAAAAAAAAAAAAAAAAAAAAAAGGAATGCAAT CTGGGCTTCTCCTCCTAACTCTCTTGCCTCTGAATATTCCTTTTTCCGAA GTGTGTCGAGAAACAACCTAAGTTTGGAGAGATTAAGACACATATCGATG TAGAGAAAGCTTTTTTTTTTTTTTTTTTTTTTTTTTAAGACAGGGTCTTG CTCTGTTGCCCAAGCTGGAGTGCAGTGGCACAAACACAGCTTACTATACC GTTGACTTCCCAGGCTCACTCAATCCTCCTGCTGCAGCCAGCCGAGTAGC TGGGACTACAAGTGCATAACCTCATGCTTGGCTAATTTTTAAATTTTTTG TAGAGATGAGGTCTCGTCATGTTGCCCAGGCTGGTCTCAATTCCTGGGCC CAAGCAATCCTTCCATCTTGGCCTCCCTAAGTGTTGGGATTACAGATGCG AGCCACCACCCCTGGCCAAGGGAAAGCTTTTTAAAAAATTTAAACAAACT CAAAAGTTTTATCAGTTCTGGAAGATCATGATAAAAATGAAATATTGGAG AAAGCAAGCTGTTACCCATCAATGTTGAGAAAATGACAAAACATATCAAG TTTTACATGGCAACATCTGTTTATAATGTGTTAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02897.hp2 HG02559.hp1 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097	3	322	0.0093	-2033	c.819 others(17): Show c.819+2474_819+4506del		SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	6/10						chr6	TogoVar
KANTR_chrX_53089142_53132438	53105904	GTGGAGTG others(2025): Show GTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCTGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACCATGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCTG GCCAGATAATATGAATTATAAATATTTTCTCCCATTCTGTGGGTTCTTTT CATTTTATTGATGGTATCTTTTAATGTACAGTAGGTTTTAATTTCAGTGA TGTCCAGCTTACCTATTTTGTTGTCACTTGGGCATTTGGTGTTATATCCA ATAAATCATCGCCTAAATCAGGGTGACAAAGATTTATTCCTATGTTTTCT TCTAGGAATTTTATCGTTTTAGCTCTTACATTTAGGACAGTGATCCATTT TGAGTTATTTTTGTTTCAAGACAGGGTCTCGTTCTGTCACCCAGGCTGGA GTGCAGTGGCACCATCACAGCTCACTGCAGCCTTGACCTCTTAGGCTCAA GTGATCCCCCCACCTCAGCCTCCTGAGTAGCTGACACTACAAGTGTGAGC CATCACACCCAGCTAATTTTTATATTTTTGTAGAGATGAGGTCTCTGTGT ATTGCCCATGCTGGTCTCGAACTCCTGGGCTCAAGTGATCCTCTCACCTC AGCCTCCCAAAGTGCTGGGATTACAGACATACTGTACCCAGCCCATTTTG AGTTAATATTTGTGTATAGCGTGAGAGTAGGGGTACAGGTTTATTCTTCT GACATGGATATCTAGTTTTCTGAGCACCTTTTGTTGAAAAATATTCTTTT TACCATTGGATTGTCTTGACGACCTTGTCATAGACCAGGCATAGTGACAC CCATCTGTAGTCCCAGCTACTAGAGAGGCTGAAGCAGGAGGATCACTTTA GCCCAGGAGTTCAGGGCCAACCTGGGCAACATAGTGACACCCCATCTCTG AAAAAAATAATTGACCATAAAACATAAACATAAAGGTTAACTTCTGGACT CTTAATTCTATTCCATTGATTTGCAGGTCTGTCACTATGCTAGACCACAC TGTCTTAATTACTGTAGTTGTAGTAAGTTTTGAAGTCAAGAAGTGAGAGT CTTCCAACTTTGTTCTTTTTCAAGATTGTTTTGGCTATCCTTGCATTTTC ATAGGAATTTTAGGATCAGCTTTCCAATTTCTTTCTTTTTTTTTTTCTTT TACAGATAGGATCTTTCTCTGTTGCTCAGGCTGGAGTGCAATGGTGTGAT CATACTTCACTGCAGCCTTGAATTCCTGGGCTCAAGTGATCCTCTTTGCT TTTTTTTTTTTTTTTTTTTTGTAGAGACAGGGTCTTGCTTTGTAGCCCAG GCTGATATCAAATTCCTGGCTTCAACCAATCCTCCTGCCTCGTCCTCCCA AAGTGCTGGGATTACAGGCATGATCTACCAAACTCAGCAGTTTATCAATT TCTTTAAAAAAAAAAACAGCTGAAATTCTCATAGAGATTATGTTGAATCT ATATATCAACTTGGGGAGTATTGCCATTTAACAATATTGTCTTCTAGTCT GTGAACTTGGGATTTATTTAGATGTTTAATTTCTTTCAGGAGTGTTTTAT AGTTTTCAGTATACAAGTCTTGCAGTTCCTTTGTTAAATTTATTCCTAGG CATTTTATTCTTTTTGATACTACTTTAAAATGGGATGTTTTTTAATTTTT AAAAATTTTTAAATTAAAATAATTTTTAATTTCCTCATGCTTTTATCTCA GAGTCAGGGGTTTGTTTTCTAGAGACAAGGTCTTGCTCTGTTGCTCAAAC TAGAGTGCAATGGCTCCATCATAGCCCACAGCAGCCTTGAACTCATGGGA TTACAGGTGTGAACCACTGCACCTAGCTGGACTTTTTCTTTTTTTCTTTT TTCTGAGACGGAGTCTCACTCTGTCACCCAGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02622.hp1 others(3): Show HG01243.hp1 HG01891.hp2 HG02622.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0014 a0001c0001t0001 a0001c0001t0005 a0001c0001t0014	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0005g0032 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0040 a0001c0001t0014g0082	6	247	0.0243	-2032	c.-80 others(19): Show c.-805+6310_-805+8341del		KANTR	ENSG00000232593.8	transcript	ENST00000604062.7	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
VAV1_chr19_6767708_6862361	6779005	TAGCTGGG others(2025): Show TAGCTGGGACTACAGGTGTGCACCGGCATACCTGGGTGATTTTTTTGTTT GTCTGTCTGTTTTCTGAGACAGGGTCTCAATCTGTCACCCAAGCTGGAGT ATAGTGGTATGATCACAGCTCACTGCAGCCTCGAACTCCTGTGCTCAAGC AGTCCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGTGCACCA GCAATACCTGGCTAATTTTTTATTTTTTGTAGAGATGGGGTTTTGCTATG ATGCCCAGGCTGGTCTTGAACTCCTGGCCTCAAGCAATTCCTCCCGCCTT GGCTTTCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCACCCGGCCAG AATAGAGGTTCTTATCTCCATCCTCCCATAACAGGAAAGATGACACATGC CACCCACTGCTCTATGCTTGCTTTCCTCACTAATCACCTTGGCAGTCTTT CCAAGTCAGTCTGTAGAGATTATAATTATTCTTTATAACATGACTGCGTA TTCCATTTATTTCAAGAAAGACTTACATTTTGCTCGCCCTGTGCTAGACA TTAGTCTAAACCAGGGAGGGGCCTGGCTGGATGCAGTGGTTCAGGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGAGGATTGCTTGGGTACAGGA GTTAGAGGCCAGCCTGGGCAACAGAGTGTGACCTCGTCTCTATAAAAATG AAAAATAAAACTAAAATAAAGCTGGGGGCTGGGTGCGGTGGCTCATGCCT ATAATCCTAGCACTTTGGCTTACAGGTGTGAGCCACCGTGCCTGGCCCAA TTATAGCTTCTAAAAAATAATAAAAGGCCGGGCACGGTGACTCACACCTG TAATTCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTGGTTGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAAGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGT GAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTC TGTCTTAAAATAATAATAATAATAATAATAATAATAATAATAATAATAAT AATAACCTCATCCATGAATCATTTTCCAGCTCCTCTGCTGTGTGATCTTG GGCACATTAGTAAACCTCTCTGTTTCCTGGTTTCTCATCTGTAAAATGAG GATGCTAAATCCCTATTTACAGCATCATTGTGGGGGATAAGTGTATTATT ATAAAGAACCTAGAAAAGTGTTTAGCTGCATATGCAGTTGTGTGTTGCTT AATAAAAGGAATCTGTTCTGAGAAATGCGTAGTTAGATGATTTCACAGTT GTGTGAACATCAGAGTACATTTACATAAACCTAGAGGGTACAGCATACTG CACACCTGGGCTATATGGTATAACCTATTGCTCCTAGCTACAAACCCGTA CAGCATGGGACTGCACTGAATACTTACCATTGCATTAAAAGATTGCCTTC TCCTTTTCTTTCTTTTTTCTTTTTTTTTTTTTTTTGGGACGGAGTCTCAC TCTATTCCTCAGGCTGGAGTGCAATGACGTGATCTCAGCTCACTGGAACC TCCACCTCCTGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGATTACAGGCACGTGCCACCACATCCGGCTAATTTTTTTGTATTTTTA GTAGAGACAGGGTTTCACCATGTTGACCAGGCTGGTCTTGAACTCCTGAC CTCAGATGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACACGTG ATAGCCACCATGCCCAGGCGATTTCTTATCATTTATACCATATTTTATAC AAAGATTTCTTATCTTTCTTTTGAGACAGAGTCTCACTCTGTCACCCAGG CTGGAGTGCATTGGCACGATCTCTGCTCACTGCAACCTCCACTTCTTGGG TTCAAGTGATCCTCCTGCCTCAGCCTCCTGAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01123.hp2 others(3): Show HG00099.hp1 HG00735.hp2 HG01123.hp2 HG01192.hp2 HG03491.hp2 HG03669.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0003 a0001c0001t0001 a0002c0003t0003	a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 others(3): Show a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0002c0003t0003g0259	6	304	0.0197	-2032	c.204 others(17): Show c.204+6009_204+8040del		VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF3CL_chr16_28374715_28408841	28406810	GATCACCT others(2024): Show GATCACCTGAGGTCAGGAGTTCGAGACCAGCTCGACTAACAATGGTGAAA CCCCATCTCTGCTAAAAATACAAAATTAGCTGGGTGTAGTGGCACATGCC TGTAATCCCAACTACTTGGGAGGCTGAGGCAGGATAATTGCTTGAACCCA GGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTG GGCAACAAGAGTAAAACTCCATTTAAAAAAAAAAAAAAAAGCATAATAAC CCCAGAAGGCAGGCCACACTGTTCCACTTTAGAGAGGAGAATGTTGATGT CCTAAAAGGTCAAGTGACCTGTCTAAGGTCAAATCGATAGTTTGCATTCC AACCCAAACATTATTCCACAGCTATCTAAACTGTTGAGAGATGTGTTGTT TTAGAGCCAGACTCCAACAATTTTTGAGTGAATTCAACTTAGTCTTTTTT TTTTCTTTTCGAGACGGAGTCTTGCTCCATCACCTAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCAAGCTCCACCTCCCGGGTTCATGCCATTC TCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCAACTGCCACCACG CCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAG CCAGGATGGTCTTGATCTCCTGACCTTGTGATCCGCCCACCTCAGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCGGCCTTTTTTTTC TTTTTTCTTTTTTCTTTTTTCTTTTTTTGCAATTTCTGCTGCCCAGGCTG AAGTGCAGTGGTGTGATTACGGCTCACTGCAGCCTCAAACTCCTGGCCTC AAGCGATCCTCCCACTTCAGCCTCCTGAGTAGCTGAGACAACAGGCACAC ACCACTACACCCAATTAATATTTTTACTTTTTGTAGAGATGGAGTCTCAC TATATTGCCCAGGCTGATCTTGAACTCCTGGCCTTAAGCAATTCTCTAGC ATTGGCCTCCCAAAGCTCTGAGATTACAAGACTAAGCCACTGTGCTTGGC CTCAACTTCATTTTGTAAATAGGAAAAATGGGAATGAAGGCAGCTGACTT AAAGAAATCCTAGGTCGGGCATGGTGACTCACACCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGCTCGAGACCAG CCTAGTTGACACCGTGAAACCCCACCTCTACTAAAAATGCAAAAATTAGC CGGGCATGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGC AGGGGAATCGCTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCT TGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACCTTGTCGCCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGAAAGAAAACCTAGTAATTT ACCTAATAATTTCTTCCTTTATGAGTGTAGTAGGCTCTGTGACTGGAGAC AAACGTAACATGGGTGTATTTAATAGGTGAATTTTGTTAATACCCAGATT CTGATGGGGTCCTTAATGGTCCCAGAGTGGGAACGACACCCTGGAAGAGC TTTGATCAGTCTGGTGTCTCCAGTTCATGTGGGCGTACGTATTTCTCACA GCAGATTGACTCTCTTCATGTGCCTGTAATAACACAGCCAGCAAGCAGGA AGATGATAACCATAACTGGCATTTGAATAACAATTTCAAATGCATAGAGG TGCTTGAAACTCATGAAAACTTATAGGTGGGCAGGAAAAGCAGCTATTAC TAACCTCATTTTACAAATGAGAAAAGCAGGACTCTGCAGTGCGGGGGAGG GCTCTGTTGTGACAGCATGAGATTCTGAAACCAGGTCCTCTAACTCGCAG GTCACAGAAGACGCTTCCAAGTATATTATTTTATTGCAGAAGGGGAATGA ACTGAGCGGAAGGAGAGGACAGAGCGTGGGAAAAGGGGAGGGAGTGCCAT GGGAACCCCTCTGTGGGACAAAATGCTGGGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	172	0.0058	-2031	c.-50 others(11): Show c.-5085_-3055del		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding					2970		chr16	TogoVar
PHACTR4_chr1_28364740_28505364	28408830	TATGCCCG others(2024): Show TATGCCCGACTGATTTTTTTTTTTTTTTTTGGTAGAGATAGGGCTTTGCC TTGTTGAGCAGGCGGCTCTGGAATTCATAGGCTCAAGGGATCCACCTGCC TTGGCCTCCCAGAGTGTTAGAATTACAGGCGTGAGCCACTGCACCCAGCC TAATATTTCTAATTAAGTTTAGCCTGTGTATATTTCATCTAGCAACATGA GTAAAGGAATGTAAGTCTAGATATACAAAGGTTTAATGTCTGCCTTTTTG GCGATAAAGTCATTTACTGTGTGTGGAACCCCTTTTCTTTCTTTCTTTTT TTTTTTTTTTTCCAAGACTGGATATCACTGTGTTGCCCAGGCTGGAGTTC AGTGGCTATTCACAGAAGCAATCATAGCATGCTACATCCTTGAACTCCTG GGCTCAAGCAGTCTTCCTGCTTTAGCCTCCCACTGTGTTTGGATGGTAAG GGGTGAAGAAGACTGAGTAAAGAGGCTGTTGCATTCAGCATTAATTATGC ATATTTCCCACGTAGCTAGGACTACAGGCATACTCCACCACTCCTGGCCC TATTTTTAACTGATGCTCATTTCAAAGTGAGAGATATGTCTTAGGATATC AGATTTTTTGAAACCATAACATTGACTAGGAAGACTAGTTAGGAAGTACT TTTCATTTTAAAATACACATTAGCAAAAAAGAAAAAAAAGAAATCAGAGG CAGTTTTACTTGTTTAATTTCAGCGTACTGGAGGAAGCATCCGATTCAAG CATTTTCTGATCCTTCATCACACGGAAAGAAGTCTGAATCCCTTTTTATG CCAGTGCAGCTTGAGGAAGTATAGTAAAAATACTACTATATAATACTAAC TGAGGTTAGGCTTTTTGGGCTACTAGTACTAGCAATCATCTGGCTCAGAT TAAGAGCTTTTGTCTTGCTTTGAGAAGACTGCCCTTTATTACTTTGTAAT ATCAGAATTTTTCTGCTTTTAACGACCTTAGATAATTTCTTTAGGACCTT GGCTTTCTTTCCCCCCTGAAGAGTAGTTTTTAGGATTATGCCTAGTTCAT CAATTAGATCCATCATCAATTAGATCCATCCTTAGTTTGAACACAAGAGG GCAGTCTGTACTTCTTCATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGAGTCTCGCTGTGTCCCCAGGCTGGAGTGCAGTGGGGT GATCTGGGCTCGCTGCAATCTCCGCCTCCCGAGTTCAAGCCATTCTCCTG CCTCAGCTTCCCGAGTAGCTGGGACTACAGGCACGTGCCACCACACCCAG CTCATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATCTTGGCCAGG ATGATCTCGAGCTCCTGACCTCATGATCTGCCCACCTTGGCCTCCCAAAG TGCTGGGATTACAGGCGTGAGCCACCGTGCCCAGCCACTTATTCCTAAAG TTTGTAGCTTCATTACCAGGTTAAATCTTGAAGAATTTGGTAAACTGAGT TTTATTATAGTAGTCTGGTGACAAATTCTAAAGAACATGACCATATGATA AACTAGAATAATACATGACAACTCCGTAGGTTTGTACTGGAAACCTAAGT TTTCATTCTGAGTGACCTCCTTGCTTCACTTAAGTAAACATAACCTAAAT TTTAATATAATCTTATCAATCAAATTTATTATTAAACAATTAAATTAAAC TGAAATTAACCTTAAATATAACTTAAATTTTCTAGGGAGTATCAACGTGA GAGTTGCTATAGAAGTTATAGTTGACCAGTAGTCAATTGAGGCATAAAGT GAAATGTGCTTTTGATTGTTTACTAAGATAGGTAGAAATTTGGGTTCTGT GCTAGTGAGATTATTTTTTTCTTTTTCTTTTCTTTTTTTTATTTGAGACG GAGTTTTGCTCTTGTCGCCAAGGCTGGAGTGCAATGGCACAGTCTCACTT CACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTC CTGAGTAGCTGGGATTACCAGCACCTGCCACC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	226	0.0044	-2031	c.16+ others(15): Show c.16+1374_16+3404del		PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
P2RX5_chr17_3668227_3701155	3685659	CCAGCCTG others(2023): Show CCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAAC ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCCGCCC AGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACA GCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTC AGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCC CTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTC CCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGA ACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGC CCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGAC CCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACAC AGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCT CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCT CCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGC GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAG AACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCC CCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGG AGAACACACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACCCCCAGGGACCCTCC CAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAA CGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAGG GACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACA CACAGCGGGACCCCCAGGGACCCTCCCAACG	C C	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	219	0.0046	-2030	c.981 others(16): Show c.981+323_981+2352del		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
IKBKB_chr8_42266302_42337460	42298082	ATGTGAGT others(2022): Show ATGTGAGTGGACTCTATTTAAACAGTCTTGCTCATTATCCTTTGGAAAAC ATTGGCATGTGTTTTCTTTTGTCAAGGGAGGCTCAAAATTCTGGGCACTC AAGATTGCAGGGCAGGCTGTGGTGCTCTCTCCTGCCTGATGGGGTGTGGC TCTGCTGGGCGGGCCTGGGTCTTATCAGATCTTAGATTGGAATCAGCCTT TCCTGGATTCTGCAGGTGGCCAGTCTGCTGTGGTGACACCATCCTGTGCT CCAGGCCTTTCGGGAACCCACCCCTCTGTTGCTGTCCCTGCTTCCTTCTC GAGCTGCTCCTAGCAGGCATCCAGGACTTCAGCGTTAAAGAACAGAGGGT TTCAGAGAAAACATTTGGCTTTGGGGAAGAGAGCTCCATTCCAGGAACTG CACATCAGGTGCACTGTCTAGCATTGTGGATCTTCTGACTGGTTCCATTG CATGCATCCATCTGACTGAAGTGTGGATTATAGCAAAAGATCATTTGCAC ATAAAGCTTTTTGGAAAGCATAAGTAACCAGGTTAATAAATACAGTAACA ATGAGAGAGAAGACAGCAGGCCCTCAGTCATGGCTCCACCATTTTATAGC TCTAGAGCCTTGGGCGAGGCATGGAATGTCATGGCCGCAGCGTCCCCTTC TTTAGGATGAGGGGTTTGGACCTCCGAGTGCTCTCTAGGGCCCCGTCTCC CTCTAACAACTCCATTTCACTGTCCAGAAATCTGGTTTTCAGGATGGTGG CCCCGGGACATCTCTGACATCCGCCAGCTGGTGGCCTAACTGCTTCCCAC AGGCTCTGTGTCTCATCTCCACTGCCTGCCCCTGCATTCGCCTGTCCGTC CTTCCCTCCCTGCCCCTGCGCTGGCTGCCCGCTGCTCCTCGACGTTCTGT TTCCCTGGCCGTTCTTGTGGCCTGTTTCTCACCATATTGTTCCCAGAATC TGGAATTCAACCCTGAACTCATCCTAAAGTCATATCCATGTCTGCCAGGT CTTTCTTCCAAAGTCAATTCCAGTAGAAGCTCTGGTTGTCTTCTTCAGCC AGGTCCCTCCTGCCATCCCCTTTCTTGTGTCATGGTGCCACTTTCTGCCC GCTGCCCAGGACCAAGTGTCCGTGTCGAACCTGGTCTCACAGAGTCAGCC CCCGCTCCTGCTCATAGCCTTGCATTACGGAGGCTGCAGACCGCTGCTTC TGCTGATTCAATGTCAGAGCAAATCCCTGCAGCGACCTCCTCCCTGGCCT CCTTAACCCTGTGTGCTAACCTACCCTTCTGTCTTGGAAGGGCACTTCCA TCACAGTCCACTCTTAGATAAAGGCCCAGCCCCTTCGCCGTACCTTTCTC CCACTCAGCCCTGGGCATGACCCACAGGACCCACCCGCCAACCTCTGTGT GTGACCCTTGGAACCCACCCGCCAGCCTCCAGGCGTGACCCTCAGAACCC ACCCGCCAATCTCTGTGTATGACCCACAGAACCCACCTGCCAGCCTCTGT GTGTGACCCGCAGAACCCACCTGCCAGCTTCTGGGCATGATCCTCGGAAC CCACCTGCCAACCTCTGCACGTGACCCACAGAACCTACCCGCCAGCCTCC GTGCGTGATTCCAAACCCACCTGTCCCTTGCTGGCCTTGCACGCGTTGCC CCTTGTGGAAGCTGTTCTTGCACCTCCCAGAGACCCTGAGCCTGCCCGTC CTTTGGGCACAGCTGCAGACCTGCCCCTCTGTGGGGATTGCCTGGCCTGG GGTCACGGGGATTTTCCTGTGGGTCTTTCTGCTGATGTCACCTCATTTGC TCCTTTGACGCTTGGCATTGCCATTACTGCTCTGTGATTTCTGTCTGTGC CTTGGCAGTGAGGGCTGACTTCCGGGTTTGGGGCCAGTTGACCAGACTGT GCAGGAAGTTAGGAAAAGGCTTTGATTCAGTGGCATGTTTCCCATTGTGT GCAGATAGTGGACACTCAATAGAGCCTCGCTGAGTGAATTAGTGAAGTTG TCGCACTTTCGCCTTGGCACCCAACGTTAC	A A	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	276	0.0036	-2029	c.388 others(17): Show c.388+4573_389-5074del		IKBKB	ENSG00000104365.16	transcript	ENST00000520810.6	protein_coding	5/21					INFO_REALIGN_3_PRIME	chr8	TogoVar
SHISA9_chr16_12896598_13245416	13200608	GCTCCAAG others(2022): Show GCTCCAAGGTGTGGTGAAAGCCATACCTTATCAACACCTTTTCTACTGTT ACTTTATTAATCCTGGGACTCTCCCATCGCAGCTGAATCTCGGCCAAAAA GCTATCGTGGTAGAAGGATACATGCGTCTCTCCAGACGTTGGCCAAAGAC TGGGTTACTTGGCACTTATGTTTGGCGACATTCCCATTTAACACTTGGGC TTGTGTGATGGCCCATGCAGGTAAAGTGATAAAAATACTGTCCCTAACCT CATGCCTCAGCTAGGGTATCTCTGCCTGTTTCCATTTGGGTTTGTTGGTT TCTAAAGCCACACATTTTCCGTATGCATCAGGGGTTGAGTTATCTAAAAG CAAAGCCTGGGAAAGGGGTTCAGATGCATGTGACTTTGAGGGAGTGTTCT TCAGGTAACAAATAAACACACACCTCTAAGGTTATGAGGGAAGCAGTGTA GGAAAGGTTAGGGAGCCACACAAAAATGGGGCTCCAAGTAAAGTCCAGAT TCAGGGGTTGTCAAACTATAGCCCTTGGGTCAAACTTGGTACCACCTGTT TTTGTAAATAAAGTTTTATTGGAACACAGCCACACCCATTTATGTAGTTG TCCCACGGTATCCATGGGGATTTGGTTTCAGGACCCTCCAAGGATACCAA TATCAACAGATGCTGAAGTCCCTTATAAAAAAATGGCATAGTATTTGCAT ATAACCTACTCACATCCTCTCATATACTTTAAGTCATCTCTAGATTACTT ATAATACTAGTACAACACAGATGTTATGTAAATAGTTGTTACACTGTATT TTTACTTGTATTATTTTTAACTATTGTATTGTTATTTTTAATTTTTTTCT GGGTATTTTCAATTCACAGTTGGCTGAATCCAAGGGTGTAGAACCTGTGG ATACAAAGAGTCAACTGTCTTCTGTCTAGGGCTGCATTCATGCTACAAAG GCAGAGTTGAATAGTCAAAGCAGAGACTGATGGCCTATGTAGTCTAAAAT GCTTACTACCTGGCCCTTTACAGAAAAAGTTTCCCGACTCCTACTCTAAA CTTGTCCCAGTCCATGTGAACTCTGAAGTATCATCATTTCATAAAGTTAT CCCCATGTTGAGGCAAGGGGCTGGTCTTTGGACTTCAGTGTCAGCGGGAC ATTGGTTGCTGACCACTTGAGGATGAGGTGTGTGAAGCATATTGACCCCA GGGCAGTGGCTCCTATCAGCCAAGAGCAATTCTCTGGGTATTGAAGGCAG CTGTGAGCTGTTAGCAGCCAACATTTGCAGCAGCTGGGAAATGGGTTCAC ATACTAGATAAAGGGGATCTTTCAAGGCACCACTGGCAACCACCGCAGTG CATACCTGGATGGACACACATGCTTCATGAAGCCAGAGGGAACCCATACT TTCCACCTCAAAGTGAGCCATCATTATCTCCCAGTGATGGGATGGATAGA CAGGAGGCGAGACCCATTCCCATTTGGGTCTCGCCTCCTGTCTATCCATC CCATTGCTCTCAGGATGAAGATGGTGACACTTACCAGTGTTCACTGGGTC CTGCCACCCTCTCCAACCCCACCTCATTCCAGTTTCCTTACACTGTATTC TCTAGCTGTGCATGGCCAGAGCTCAGAGGGCAATTCCTTCCGTTGCTGAG CATGTTGGGTTCCATCCAGCTCCACGGCTTTTGCTCATGCTGCTTCCTCT GCCTGAAATACCCTCCCTCATATCTTCCACCTTCCACCACACTGAACTAT TATAACAACCCTCCTTCCTGTAGATCTCAGCTCAGAAAAACCTTCCTGAA TCTCTCTTTCCTTGAATCTCATTTCCCTTCAAGCAGCCAATATTTAGTTT GTTTGTCTTTACATTTGTTTGTGTCTTGTGCAAACTTGTAGTATGCAAAA ATATACACATAGGTTATATTACTTAACAAAAAATGCTATACTATTTGCTT TCCTTTAAAGCTTCCTTTTTTCCCTTTAACAATATAAACCATAAGAAACT GTTCAAGTTTTCCTTCATTTTTTCTAACAC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp1 HG00738.hp1 others(51): Show HG00099.hp1 HG00544.hp1 HG00738.hp1 HG01074.hp1 HG01167.hp2 HG01255.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04204.hp1 NA18952.hp1 NA18955.hp2 NA19007.hp2 NA19043.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0034 a0001c0001t0035 a0001c0001t0053 a0001c0001t0055 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0084 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0002t0006 a0001c0002t0009 a0001c0002t0060 a0001c0002t0082	a0001c0001t0001g0088 a0001c0001t0001g0120 a0001c0001t0002g0011 others(51): Show a0001c0001t0001g0088 a0001c0001t0001g0120 a0001c0001t0002g0011 a0001c0001t0002g0045 a0001c0001t0002g0173 a0001c0001t0002g0207 a0001c0001t0003g0180 a0001c0001t0004g0006 a0001c0001t0004g0027 a0001c0001t0004g0079 a0001c0001t0004g0203 a0001c0001t0005g0096 a0001c0001t0006g0080 a0001c0001t0008g0050 a0001c0001t0008g0077 a0001c0001t0008g0111 a0001c0001t0008g0129 a0001c0001t0011g0123 a0001c0001t0011g0139 a0001c0001t0011g0155 a0001c0001t0012g0078 a0001c0001t0012g0145 a0001c0001t0013g0122 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0057 a0001c0001t0014g0076 a0001c0001t0017g0193 a0001c0001t0018g0132 a0001c0001t0020g0047 a0001c0001t0021g0058 a0001c0001t0023g0119 a0001c0001t0034g0121 a0001c0001t0035g0140 a0001c0001t0053g0051 a0001c0001t0055g0118 a0001c0001t0063g0138 a0001c0001t0065g0052 a0001c0001t0066g0075 a0001c0001t0073g0109 a0001c0001t0076g0108 a0001c0001t0077g0198 a0001c0001t0084g0151 a0001c0001t0087g0206 a0001c0001t0088g0018 a0001c0001t0089g0143 a0001c0001t0092g0144 a0001c0001t0093g0102 a0001c0001t0094g0101 a0001c0001t0096g0103 a0001c0002t0006g0117 a0001c0002t0009g0181 a0001c0002t0060g0183 a0001c0002t0082g0186	54	214	0.2523	-2029	c.692 others(16): Show c.692-2783_692-755del		SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
AZGP1_chr7_99961730_99981031	99967078	GTCCTGCG others(2020): Show GTCCTGCGGGGGCACTGCCACCACCACCCAGGACTGGTAAGTGCCATTTC CATTGTGAAGAACATCTCCCCGTAACTCAGGCTCCTGCACCTCGCCGGCC CGAGTCCAGTGCACATCAATTTTCCCTGGGTAGAAGTCGTAGGCCAGGCA CTTCAGTTTCTTCTTTTCTCCTGGGGCCTGGTGGCTGGTGACCACCACAG AGGGAGGATCTGTGGAGGGATAGAGTGTGACACTGCAGGCTTGAGGTGGA CTTCTCCCGGCCCAGGTCTCTTCCTACCCCCACCCCTGGATGTCAGCGAT CAGCAGAGCTCGAAGCTCTGTACCTGCCCACCCCCAGCCCCGGGAGACTT TCCAGAATATCAGGGAAGGCTGACGCTTTCCCTCTTGCCCAATCCCCACC TCACCCATGTATTGACTCTGACGGCAATAAGTTGTGAATGCTCCGTGTGC TTCTCCATGTTTTCCCACATCTCAGTGGGCTTTGGAGTTCTGTCCCCCAG TCTCAGTCCAGCTGCTTGGTTCAGCCCATGCCTCTATCCAGCAACCACTT CCCTGCAGCACTGCACAATCCTGAGTCTCACTACGTCTCCAATCCAAGTC TCAGCTTGCAGCCATCAATTCCGCTCACACTGGCTTGCTCTTGTCCTTCT GGGGCTGACATTTTACACGCCTCCCTTCTCTCCACCACCCAGATGGGAGG CATCATTGTAGAGATAAAAAACGATGGGATTTGGAATCTGAAATCTGGAA TTTGAGTCCCAGCTCTGCCTCTTACAGACAGTGTTACCCTCACCTCCCTA ACCTCAAGCTCCTTGTCTGTTAATTGGAGATGATTTGGGGACACTCATCA AGAAAGAATGGCCTTCCTGGCCCATTCTGCCTGAAATTTTGATGATGTTC TTTTTGGACCACAAATTATATTATCCCAGGGAAGGAATAAATCCTAAAAG ATGAAAGCTGGGGGTCTGAGGGACATCCAGGAACAGATGAGACCGGACTA AGATGTTGCCTGAGCTCCTAGCCTGAGATCGTCTTTTATTCTGGGCTCAG TACTGGGGAGCAGGAAGCAGTGAGTACCTTGCCGGTCCAGGATATTTTTG CTGTATTTCAGGTATTTCCGCAGAGTCGCAGGGCACTCCTCCTCCAGGTA AGCCTTGGCCCGCTGCACGTAGACTGGTTCTGCCTCCCACTTCTGCTTGG TTATCTGGGCTGCTGGGTCGAAGGGGACCCAGGCTGGGATTTCTTTGTTG AATTCAATGTAGTCCTTTCCATCATAGTAATATTTCCAGAATGCTCCGCT GCTTCTGTTATTCTCGATCTCACAACCAAACCTTCCCTGCAATACGTGAG ACCCTGAAAACTCCCCCGACCCCACAGAGAGACAGTCAGCCTGGTGAGAA ATTTATCAAAATAACTCTTAGTCTTGCACATTGGGCAACCCAAAAGAAAT AAAGGTTTTTGCAATTCAAGCATGCAATCCCTTTATCAAGACAAATAGGT TATTACTCCAATATATACAACAGACAGAGAGGGGCTAACTCAGTTTGGTT TGGCATTTCAGGTTTGTCTCAGATGAGATATGTTCCTCCTTAAGAGAGCT ACAGCCTGGGCGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGAGAAGC TGAAGCGAGTGGATCGCTTGAGCCCAGGGGTTCCAGACCAGCCAGGGTGA TATGGCGAAATCCCACCACTACAAAAAATATAAAAATTAGCGCAGCATGG TGGTGCATGCCTGTAGCCCCAGCTACTCAGGAGGCTGAGGTGGGAGGATC ACTTCAGCCTGGGAAGTCAAGGCTGCAATGAGCCAAAATCACACTACTGC ATTTCAGCCTGGGTGACAGAGTGAGACCCTATCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAGCACCAGGCCCAGTGGCTCACACTTGTAATCCCAGCA CTTTGAGAGGCTGAGGAGGATGGATCACCTTAGGTCATGAGTTCGAGACC AGCCTGGCCAATATGGTGAAACCCCATC	G G	exon_loss_variant exon_loss_variant	HIGH	NA18952.hp2 NA18984.hp2 NA18952.hp2 NA18984.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0060 a0003c0005t0001g0061 a0003c0005t0001g0060 a0003c0005t0001g0061	2	430	0.0047	-2027	c.338 others(11): Show c.338-675_821del		AZGP1	ENSG00000160862.13	transcript	ENST00000292401.9	protein_coding	3/4	832/1181					chr7	TogoVar
DHRSX_chrX_2214506_2505976	2280270	AAGAGAGA others(2019): Show AAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA GGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACAG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAA TGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGG GAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGG GAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGG AGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGA GGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAA GAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAG AGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGA GAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAAC GGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGA AATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGA GAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACG AGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGG AGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATG GGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGA GGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGA GAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAG AGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAG ATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAGAGA GAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAG AGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGG GGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGG GCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGA GAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAG GGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGAT GGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAG GAAGAGGAGGAAATGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0035 a0002c0002t0004g0035	1	48	0.0208	-2026	c.388 others(18): Show c.388+9206_388+11231del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2280317	GGGAGAGA others(2019): Show GGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGA TGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAA GGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAA CAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGG AAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAG AGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAG AGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAG AGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAG AGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGG AAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAA GAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAAACGAGAGGGAG AGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGG AACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGA GGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAA AGAGAGAGAAAGAGAGATGGAGAGGGAACAGGGAGAGAGAGGGAGGGCAA ACGAGAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACG GGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAA ATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAG GGAGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAG AGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAAC GAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGA GAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGAGGGAG AGAGAAGGAGGAGAGGGAGGAAATAGGGGAAAGAGAGAGAAAGAGAGATG GAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGG AAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACGGGGA GAGAGAGGGAGGGCAAACGAGAGAGGGAGAGAGAAGGAGGAGGAGGAAAT GGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGG AGGGCAAACGAGAGGGAGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAG AGAGAAAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGA GAGGGAGAGAGAAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGA GATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAG AAGGAAGAGGAGGAAATGGGGGAAAGAGAGAGAGAGATGGAGAGGGAACA GGGAGAGAGAGGGAGGGCAAACGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0028 a0002c0002t0004g0028	1	48	0.0208	-2026	c.388 others(18): Show c.388+9159_388+11184del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
IQCH_chr15_67249786_67506804	67355503	TGGTGTGA others(2019): Show TGGTGTGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGAGATTGTGCCACT GCACTCCAGCCCGGGCGACAGAGCAAGTCTCCATCTCAAAAAAAAAAAAA AATTAGTAATAACTACCACAAAAGCATACAAGTTTGTCCAGAAAGACAAG GATTTTTTCCTCTCCATTAACTCTGGCAAAATTTACCAAACAGATTTTTC CAGCAGGGAAATTGAGTAGCAAAATAGGCAGTGCATTAGGATACGGTTTT GTAAAAATGCAGACACATTCCTCAAATGCATGTGTCTCATAAAATCCAAG GCCACATGAAATAATAATTTAGTGATAGCATTTCTGCAGACAGCTAAGAA AATTCTTATTGATATCATTAACTGTGGATTAGCCATGTGAAATTACTTAT CCTTGAGATCTTTGTCCTACCAAATTGTATTACAATTTTACTAAAATCCT TTAAAAGTTATGCCCACTTGAAAATTTCTCAGCTGCTATTTTGTTTGAAC ATGGGAATTTAGCCATAAATCTCACTTTTCTGCAAGAACCTGAAAGTTAA ACAAAAATTGTACTGAGTCTGCAGACAATAGGAATAACAAATTTTACTGG TGAATCTGTGGATTCAAAGCAGGCTGAACACAGAATGTGGACTTACCTTC AGAAGTGGGAGAGCAAACTCCAAAGTGGACACCAGGGAAGGAGAGCATAG AACTGAAGGCAAAAACTATACCCTTAAAATGGGGTCTTCATACACTACTG GCCAGGGGATAGTGAGGACTACAAGTCACAGGGAAGCTTGCCGGAAGCCA GGGAAACCAGAGGGTTGTAAAAATGGGTTGATCAAATGCAACAAAGAAAT CCCTTTTGTGAAGGTGAGTTTCACTGAAAAGGCTCTGCTATTTTTCCTAC TCTTTAAAAAAGAGCTGAAGATATTCCTTGCAGCTCAGTTGAGGCAATCT AAGAGAACCAAGTCCTCAAAGTGAGATTCTAAATTATATATTGATATCCT TTACTAGCATGCTGTTTTTGATCAATATCTGTCAATTCCTTCTAAGATTG TTGTTATAGAAAACTAACAGAAAAGGGGGTTGAGCTGAAGGAATTGAGCT GAAAGAAGCCTCACTTCTTTTATTCAATTAACCATTTAAATAAATTTTTT GTTCTCTTTCTTGGGCTGAGTAGTATAAGGATTTTTCTCCCCTGAGAATG TCAGACTTGGGCTTTTGGTAAAGGGCAGTCAGGTTTGCTGCTAGGCAGTA GGAGAGATGTGATTGAGAGCATTATCTAGCATGTGGGCCCATTCTTCCTC GACCATGGGCTAGGTGTGTTCTCTAAAAGTTGTTGCTTATAGACTTAACT AATTTCAAAAATAATCTTTATGGTGCTTTTCACTTGTGTCACTTCCCTCA GTCATTTAAATTTTTTAGAATCTTTTTTTTTACACAATAGAATAGTCCAT ATGTAGCTATGTTAAATCACATTTTACATGAACCTGGGAATCTGGCTATT TAAAGAAATCTTCTAACAAAGCATTTTATAAGACAGATATTACTCTCTAA TTTGCCTGCTTTTAAAATGTGCCTGCTTTTAAAATTTGCCTTTTTATCTA GGCAGTTTGCATAAGGCGGGCTGACTTTGTATTCTAATAGAACTGTTGCC CTCTCATGCTCTTGGCTTCCTTTTGAAGTCAGTGATCATAGCTGTTTCAT TGAATGAATACAGAAAGAAAGGTAGTGAGCGCACAGTGGGTGACAGAGCC ATTTGACTTTCAAGGTGCAAACCCAATAGCATCCAACCAGTGACTCAGCC TCTTCTTCTGGAAAAGGTAACATGTACTATCTTCATCCACAGCCACTTTC ACTATACCTCGGGAACCACCTCCATCTCCAGCAGAAGTGAAGTTCTTTCC CAAGAAACAAAGATCAAAGGTATTTATATTCCTCACTATAGAAAGAAAAT TATTCTTATTTACAGCACTTTCTGTGAGATATTTGGTGATTTACACGTTA TTGAGTTGTACCTTCAACATAGAAATA	T T	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	HG01081.hp1 HG01081.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0048 a0004c0008t0001g0048	1	274	0.0036	-2026	c.638 others(16): Show c.638-1841_714+108del		IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	7/21						chr15	TogoVar
SMKR1_chr7_129497531_129517918	129501338	CGTCACCT others(2019): Show CGTCACCTCCTCAGAGAGGCCTTCCCCAGTCACCAATCTAAAAGAGCACC CAGTGGTCACATCAATTTAATGCAATATGCCATACTGTCCCTATCACTTT TAATGTCTGCCAGGCCCTCCATTTCAGCCACGACCACCTCCCCCAAATCA CCCCTTAAAAGAACAAGGACTTTGCCTCATTCAGAGCTCAATTTCCAGGG CCTGGAAGAGTGTCAGGCACGTGGCAGATGCTCAATAACTGTTGAATAAA AAGGAATGATAGGCCGGGCAGTGGCTCACGTCTGTAATCCCAGCACTTTG GGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGAAGTTCGAGACCAGCGT GACCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGG GCATAGTGGTACGCATCTGTAATCCCAGCTACTCAAGAGGCTGAGGCAGG AGAATGGTTTAAACTTGGGAGGCGGAGGTTGCAGTGAACCGAGATGGCGC CACTGCACTCCAACCTGGGCGACAGAGAGAGACTCGGTCTCAAAAAAAAA AAAAAGGAATGACCAGTCATAAAAAAGAATGAGTCGTACCACCCGAAGTG TAGACTTCACCTGCAGGGAGGGAGGCTGGAACTGGCAAGGTTGGAGGCAA AACTGTACCTACTGTACCTTTCTCGCCCAATCCTACCTGCACATGAACTC CCTCCCCACCCCTTTAGTCTCTCGGGCCCTTACTCTCTTTATCCGGCTCT TTTGCAAACATTTCCCATGATATTCTCCCTTCACCGTCACAGTCCTTATG CTCGTTTCCCAAAAGAGCTTCTCCGATGATCTCTCCCAGGTTGGCCGAGT GAGCGGGCCTAGCCTGCGCTCTCACCCCAGTGCCACCCCAGTGGGAGCGC CGCCCGCGCCCGCCCCCTCGCCCCGCGCCCGCCCCCTCGCCCCGCGCCCG CCCCCTCGCCCCGCGCCCGCCGCTCCGGCAGCCCAAACCCAGACGCTAAA GCGCCGAACTGGGTTTCCGGGCGCTGGAGGCCGCGGTCGGCCTCGTACTA GGTGACGGCCCATCCCGCGCGCGCAAGCCCGGAACCCCGCTCCGCTCACC CTCCGCGCGCTGCCGCTTTGCCCTGGCAACGGTAACCACGGCGAGGCCCT GCCCCACGCCCGGTGATTGTGCGCGCGGCCCCGCCCCCGAGGCGCACGCC GGCCCAGCGCCCACAGCTGCGGCGGCCTAGGTGCCGCGTGGGGCAAGCAG GTGCCTCGCGTCCAGGCGGCTCCGCGGCTGGCTGCCTCCCGAGCCGGCCG CGCTCCTCCCAGCGAGGCGTGGCGGGGAGGCGTAGTGAGGCTGGGCCCGT GGCGGTTCCCTGAGGAGGGCCGAGAAGGGGCCGGGGGTGCTAGGGGAACG GGCGCTGGGGGCAGCGGCCCCGGTGGATGCTAAGGGCTTCGGGATCGGGA GAGTCCACCACGCCTGCCTGCTCGGCTGAGAATCGCCATGGTAATCCCCG TCTCCCTAAAGTACCCGGGGCCAGGGCGCGCGCCGTGGAGCCCCAGGCTG TCCCGGAGAGGCGCGGGCGCCGAGGTCACCGCCTCTCCCTGGGGTCGACC TCAACGCGTGGCGAAAAGATGGAGGGACAAGGGGTGCCCGGCGGTCCGCG CCTGCTGGGGGCGCAGCAGCCGCGGAGTCAGGCCAGCCGTCTTTCCAGGT TTTAGGTCGTGGTCCTGTTGAGCAGCCCCCACACCCAGACGGTTGATGTG GAAAATAAAGGGAGGGTGGCACCGTGGTGTGGCACGTCAGGGCGCCAGGC CATGCCCACAGTGACGGGTCCGAGCTGTTAGCTGCCGTAGCCACCCTGGG TGCCCGCGCGGGATTCTCCACTGCTCTGCAGACTCAGGAAGCAGAGAGTG AGCCTGGTACCACCACCTTGCTGTCAACAGCATTCCTGTTCTCAGCCCTC ATCCAGTCACTTACGACCTCCTTCCAACCCTCGCTGCTCTTTCCAGAAGG GCTGTGACCTTCCAGCCCCTGCCCCAA	C C	exon_loss_variant others(1): Show exon_loss_variant splice_region_variant	HIGH	HG02486.hp2 HG02572.hp1 HG02717.hp2 others(2): Show HG02486.hp2 HG02572.hp1 HG02717.hp2 HG02809.hp1 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0013 a0002c0002t0003g0013	5	420	0.0119	-2026	c.-14 others(11): Show c.-1486_3+537del		SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding	1/2						chr7	TogoVar
PEBP1_chr12_118131124_118150584	118131321	CGAGTAGC others(2018): Show CGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCCGGCTAAGTTGTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTAACCTCGTGATCCACCAGCCTCAGCCTTCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGACATAGAGGGTATTTTTAAATGCTTT GAAATTCTCAAAGAGAAAAGGGAAAAAAAAAGTCTCAATAGGAAAAATGT GACAAACGGAATCCCGGCGACCTGTTAATGGTTAATTCTCACAACAGTGT CTCAGTGCATATCCTTGGCCAGCAGCCAGCACCTCGGTCCCCTGGAGTGG CAGTTCCAAGTCACTGGCATGGCCACAACAGTTTCTGAACTCGAGCTAAG GACAGAACTTTGTTTTTGTCCAAAATTCCCTCATTATTATTTTTGTTTTG TTTTGTTGTTTTTTGAGACGGAGTCTTGCTGTGTCGCCCAGCCTGGAGTG CAGTGGCACGATCTTGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCG ATGCTCCTGCCTCAGCCTCCTGAGTAGCTTGGATTATCCCAGGCGCTCAC CACCACGCCCGGGTAATTTTTGTATTTTTCACAGAGACAGGGATTTCACC ATGTTGGCCAGCCTGTTCTCCAACTCCTGACCTCAGGTGAACCACCCGCC TCGGCCTCCCAGAGTGCTGGGATTACAGGCATGAGCCACCGCCCCTGGCC CCAAATTCCCTCATTAAACAGTTTCTCTTGCAGAAGCACAATGAGTGAAA TTGGCATGAAGCCATTTCACTAAATAACCACATCAGTGAATTTCCTGGTC CTCACTCAACAAACAAAAACAACTGGTGGTTTTCCAGGCTGGTTCATTTG AGTCTACCCTCAACCAGCACCTGCCCAAGCTTCTGGCCTAGAAGAGGCAC ACGTGGCAGAAATACAAGCAGACGGCAGAATAAATAGCATCAATGAAAAG AGTCAAACTTTGTAAAACATTTGAAGAGATTCATTCTGAGTCAAATATGA GTGACCATGGCCTATGACCCAGCCCTCAGGAGACCCAGGGAAAATGTGTG CAAGGTGGTTGGACACAGCTGGGTTTTATACATTGCAGGGAGACATGAGA CAGCAATTAAATACATATAAGATATATATTGGGGCCAGCTGTGGTGGCTC ACATCTGTAATCCTAGCACTTTGGGAGGCTGAGGCCAGTGGATCACTTGA GCTCAGGAGTTCGAGACCAGCCTGGGCAACGTGGCAAAACCCTGTCTCTA CTAAAAATACAAAACGTAGCCAGGCATGGTGGCACACACCTGCGGGAGGT GGGAGGACCGCTGGAGCCGGGAAGTTGAGGCTGCAGTGAGCCGTGATTGC ACCACTGCACTCCAGCCTGGGTGACAGAGCGAGACCCTGTCTCAAACACA AAACAAAACAAAACAAAACAAAACAAAACAAAAAAACAAAACCTTGGTTT AGAAAGGTAGGATAACTTGAAGTGGGAGGGCTTTCAGGTTATAGGTAGAT TTTAAAATTTTCTGATTCACAATTGGTTAAAAGAGTTACTATCAATAGAA AGGAATGTCTGGGTTATGATAAGGGGTTGTGGAGTATCCCCCCCAAAAAA AAGCCTCCAAGTAGCAGGCTTCAGAGAATATATTGTAAATATTTCTTTCT TTTTTCTTTTTTTTTGAGATGGAATCTCACTCTGTCGTCCAGGCTGGAGT GCAGTGGCACAATCTCGGGCTCACTACAACCTCCGCCTCCCAGGTTCAAG CAATTCTCCTGCCTCAGCCTTCCTAGTAGCTGGGATTACAGGTGTGTGCC ATCACGCCTGGCTATTTTATTTTATTATTTTATTTTATTTTATTTTATTT TATTTTAATTTTATTTTTGAGACGGAGTCTCGGTCTGTCACCCAGGCTTG GAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCGGCCTCCCAGGTTC ATGCCATTCTTCTGCCTCAGCCTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02970.hp2 NA20300.hp1 HG01109.hp1 HG02970.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	424	0.0071	-2025	c.-48 others(11): Show c.-4888_-2864del		PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding					4802		chr12	TogoVar
SPATA5_chr4_122918078_123324433	123001925	CTGTGTGG others(2018): Show CTGTGTGGGTGTCTAAGTCTCTTTGTAGGTCACTCAGGACTTGCTTTATG AATCTGGGTGCTCTTGTAATGGGTTCATATATATTTAGGATAGTTAGCTC TTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTCTTTGTCTC TTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTAGGATTGCA AGCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGTAGATCTTCCTCCATCC TTTTATTTTGAGCCTGTGTGTGTCTCTGCATGTGAGATGGGTTTCCTGAA TACAGCACACTGATGGGTCTTGACTCTTTATCCAATTTGCCAGTCTGTGT CTTTTAATTGGAGCATTTAGTCCATTTACATTTAAAGTTAATATCGTTAT GTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTTATTTTGCTCATT AGTTGATGCAGTTTCTTCCTAGTCTCAATGGTCTTTACATTTTGGCATGA TTTTGCAGCGGCTGGTACCGGTTGTGCCTTTCCATGTTTAGTGCTTCCTT CAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCTCAGCATTT GCTTGTCTGTAAAGTGTTTTATTTCTCCTTCACTTATGAAGCTTAGTTTG GCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGAATGTTGAA TATTGGCCTCCACTCTCTTCTGGCTTGTAGAGTTTCTGCCGAGAGATCCG CTGTTAGTCTGATGGGCTTCCCTTTGTGGGTAACCTGACCTTTCTCTCTG GCTGCCCTTAACATTTTTTCCTTCATTTTAACTTTGGTGAATCTGACAAT TATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTTTTGTTGTCT GTATTTCCTGAATCTGAATGTTGGCCTGCCTTGCTGGATTGGGGAAGTTC TCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTTCATTCTCCCC ATCACTTTCAGGTACACCAATCAGATGCAGATTTGGTCTTTTCACATAGT CCCATATTTCTTGGAGGCTTTGTTCATTTCTTTTTATTCTTTTTTCTCTA AACTTCCCTTCTTGCTTCATTTCATTCATCTCATCTTCCATCACTGATAC CCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCATTCTTCAC GTAGTTCTCGAGCCTTGGCTTTCAGCTTCATCAGCTCCTTTAAGCACTTC TCTATATTGGTTATTCTAGTTATACATTCGTCTAAAGTTTTTTCAAAGTT TTCAACTTCTTTGCCTTTGGTTTGAATTTCCTCCTGTAGCTCGGAGTAGT TTGATCATTTGAAGCCTTCTTCTCTCAACTCGTCAAAGTCATTCTCCGTC CAGCTTTGTTCTGTTGCTGGTGAGGAGCTGCGTTCCTTTGGAGGAGGAGA GGCGCTCTGCTTTTTAGAGTTTCCAGTTTTTCTGCTCTGTTTTTTCCCCA TCTTTGTGGTTTTATGTTTGTTTGGTCTTTGATGATGGTGATGTACAGGT GGGTTTTTGGTGTGGATGTCCTTTCTGTTTGTTAGTTTTCCTTCTAACAG ACAGGACCCTCAGCTGCAGGTCTGTTGGAGTTTGCTAGAAGTCCACTCCA GACCCTGTTTGCCTGGGTATCAGCAGCGCTGTCTGCAGAACCGTGCATTT TCATGATCTGCAAATGCTGCTGTCTGATCATCCCTCTGGAAGTTTTGTCT CAGAGGAGTACCCGGCCGTGTGAGGTGTCAGTCTGCCCCTACTGGGGGGT GCCTTCCAGTTGGGGTGCTCGGTGGTCAGGGGTCAGGGACCCACTTGAGG AGGCAGTCTGCCTGTTCTCAGATCTCCAGCTGCGTGCTGGGAAAACCACT GCTGTCCTGAAAGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACT GCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAAAGGTGGAGCCTACAGA GGCAGGCAGGCCTCCTTGAGCTGTGG	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18982.hp2 NA18966.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0008g0091 a0001c0001t0008g0092	2	260	0.0077	-2025	c.186 others(21): Show c.1869+22542_1870-24234del		SPATA5	ENSG00000145375.9	transcript	ENST00000274008.5	protein_coding	10/15					INFO_REALIGN_3_PRIME	chr4	TogoVar
DLGAP2_chr8_732628_1713476	1393580	TGAGTCGT others(2017): Show TGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCATCCTCCTGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGT GTATTGAGTGCTTACTGAGCGCCACCTCCTTGTCTTCCGGAGTCGTGTAT TGAGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAG TGCTTACTGAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCT TACTGAGCGCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACT GAGCGCTCCCTCCTCGTCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGC GCCCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCA CCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTC CTCATCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTCG TCCTCCTGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCT CCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGG AGTCGTGTATTGAGTGCTTACTGAGCGCCCCCTCCTCGTCCTCCAGAGTC GTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGT ATTGAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTG AGTGCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTGCTTA CTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGA GCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGAACTTACTGAGCGC TCCCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGTGCCACC TCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCACTCCCTCCT TGTCCTCCGGAGTCGTATATTGAGTGCTTACTGAGCGCCACCTCCTCGTC CTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCC TGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCAGAG TCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCCGGAGTCGT GTATTGAGTGCTTACTGAGCGCCACTCCTTGTCCTCCGGAGTCGTGTATT GAGTGCTTACTGAGCGCTCCCTCCTTGTCCTCTGGAGTCGTGTATTGAGA GCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTG AGCGCCACCTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCG CTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCCAC CTCCTCATCCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCC TTGTCCTCCGGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCAT CCTCCAGAGTCGTGTATTGAGTGCTTACTGAGCGCTCCCTCCTTGTCCTC CAGAGTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCGGG GTCGTGTATTGAGTGCTTACTGAGCGCCACCTCCTCATCCTCCAGAGTCG TGTATTGAGTGCTTACTGAGCACCACCTCCTTGTCCTCTGGAGTCATGTA TTGAGAACTTACTGAGCGCTCCCTCCTATGTCCTCCGGAGTCCTGTATTG AGTGCTTACTGAGCGCCACCTCCTTGTCCTCCAGAGTCGTGTATTGAGTG CTTACTGAGCGCCACCTCCTCATCCTCCAGGGTAGTGTATTGAGTGCTTA CTGAGTGCCACCTCCTCGTCCTCCA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 HG03486.hp2 others(2): Show HG02258.hp1 HG02976.hp2 HG03486.hp2 HG03492.hp2 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0009 a0002c0001 a0001c0002 a0001c0009 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0022 a0001c0009t0012 a0002c0001t0005	a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0002t0022g0034 others(2): Show a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0002t0022g0034 a0001c0009t0012g0006 a0002c0001t0005g0029	5	40	0.1250	-2024	c.107 others(21): Show c.107-107667_107-105644del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
USP32_chr17_60172327_60397133	60334536	CAAAAAAT others(2017): Show CAAAAAATTAGCCGGGCGTGGTTGCAGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCCTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTC CGTCTCAAAAAAAAAGAAAAGAAAAGAAACATAAACAGTTGATAACACAT ATTATATGCCTTCCACAGTGTATTCTGTGTATAAGTAGACCTGCGCTATT CAAATCCATATTGTTCAAGGGTCAACTGTGTCTAGCTTTAGCAGCTCAAT ATATATACAGAGATGGGGTTTCACCATGTTGGTCAGACTGGTCTCAAACT CCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCAGCCACGTTTTTTTATTTAACAGTTGCTGAT GTTTCTTGTTATTTTTTAAGAGACAGGGTCTCTATTGCCCAGGCTGGAGT GCAGTGGCATGATCACTGCAGCCTCAATCTCCCAGCCTCAAGTGATCCTC CCATCTTAGCTTCCCAAGTAGCTGAGACTACAGGCGTGCAAGACACCCAG CTAATTTTTTTTATTTTTTGTAGAGAGGAGGTCTCACTATGTTGTCAGGG CTGGTCTTAAACTCCTGGGCTCAAGCAATCCTTGAGATTCCGAAAAGTGG TGGGATTACAGGTGTGAACCACCACACCCGGCCCTCCATTTGTATCCTTG CCTGAGTCCCTGCAAATATTAAGTATGTGTCTGTCTTTCTTCATCCAAAC ACCCACTTATTCCTACACATAAAATCTTTCTTCTATGCATAAAACAACTC CATTCCTAACAAAGACTTCCACAAAGTCCTATCCAGTTCCTACATTCAGG TCCAAGGTCTCTATGTGATTTTCAATTCTTTCCACTAACTCTAAAGGTGA TTCATTGTGGTCTGGTGACCTATAAACTAAAACACAAGTTGTACCTCTTC TTTTACTTGTATTATGAATGGTGAAGTAGAAAAAAATATATCTACAATAG AAATTTCCATTCAGAAAAGGGAAAAGTGGAAAACATACGGTAGTCATGAA GGTAAACTGCCAGGGCAAGAGAGTACGTTCATTGGTCAGCCCAGTTACAA GTCCAGGTTTTGTTCCCTGAGACAAAAACCCTGTCTATAGCCCTCCCTGG CCCTTAGCCTTATTCCTTAGCAATTATTTTTCAAGAAGTGGGCAATGGGT CATGTGCTTTTGTTGAAGGTTACACAGATCTTGTTGTTGCATTGAATTTT GCAACATGTATAACCAAATTCTGATTAAGTTTTATCAGCTAAATTTTGGC AGAGTCTGTAACACTGCCAGTTATAAACTTAACCTTATTTTCCTTTATAA TACCTATTAAGGATAGAAGTTTCTCATAAAGACTCACTTGGATAGGATCC CAACTGTTTTTATCGTCTACTACACTAGTCATGTCAGTAGCTCGGTTAAT ACACCAAGAATTTGAAATAAGTAATTATACATAAGGTATTTTCTGTAAGA GTGTTTTTTAGTATGAATTACTTCTTTAACATCTGGCATACCACTTAGAA CATCCATAATCTATGTAATGTTCTTGATGTAAAGTTTTCTACAAGGAGTT CACTAGTCCCATTACGCTTAACTATATGTTAGATCTTCTATTGTGAACTC TGTTTTTCAATAGCTTATGAAGCTGTTTAAATTTGCTCTAGCTTAAAACT TGACAACTAAGGACCATCAAGATAATAATGCACATATTTTTTAAAGTTCA TATATGTTTACCAGAAGAGAGTGATATACTCTGTTGTACTGTCATCTTAC AGAAGCCTTGAAATCTTTTTTGTCCTGTCTTACAAAAAGAAATGAATTGG CCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTG AAACCCCGTCTCTACTAAAAATACA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp2 HG00738.hp1 others(48): Show HG00639.hp2 HG00642.hp2 HG00738.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01346.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02004.hp2 HG02040.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18941.hp2 NA18945.hp2 NA18946.hp2 NA18953.hp1 NA18957.hp2 NA18971.hp1 NA19030.hp2 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0063 others(48): Show a0001c0001t0001g0021 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0005t0001g0113	51	150	0.3400	-2024	c.186 others(18): Show c.186+8921_186+10944del		USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	2/33						chr17	TogoVar
USP32_chr17_60172327_60397133	60334647	GCGCCACT others(2017): Show GCGCCACTGCACTCCAGCCTGGGCAACAAAGCGAGACTCCGTCTCAAAAA AAAAGAAAAGAAAAGAAACATAAACAGTTGATAACACATATTATATGCCT TCCACAGTGTATTCTGTGTATAAGTAGACCTGCGCTATTCAAATCCATAT TGTTCAAGGGTCAACTGTGTCTAGCTTTAGCAGCTCAATATATATACAGA GATGGGGTTTCACCATGTTGGTCAGACTGGTCTCAAACTCCTGACCTCGT GATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCAGCCACGTTTTTTTATTTAACAGTTGCTGATGTTTCTTGTTA TTTTTTAAGAGACAGGGTCTCTATTGCCCAGGCTGGAGTGCAGTGGCATG ATCACTGCAGCCTCAATCTCCCAGCCTCAAGTGATCCTCCCATCTTAGCT TCCCAAGTAGCTGAGACTACAGGCGTGCAAGACACCCAGCTAATTTTTTT TATTTTTTGTAGAGAGGAGGTCTCACTATGTTGTCAGGGCTGGTCTTAAA CTCCTGGGCTCAAGCAATCCTTGAGATTCCGAAAAGTGGTGGGATTACAG GTGTGAACCACCACACCCGGCCCTCCATTTGTATCCTTGCCTGAGTCCCT GCAAATATTAAGTATGTGTCTGTCTTTCTTCATCCAAACACCCACTTATT CCTACACATAAAATCTTTCTTCTATGCATAAAACAACTCCATTCCTAACA AAGACTTCCACAAAGTCCTATCCAGTTCCTACATTCAGGTCCAAGGTCTC TATGTGATTTTCAATTCTTTCCACTAACTCTAAAGGTGATTCATTGTGGT CTGGTGACCTATAAACTAAAACACAAGTTGTACCTCTTCTTTTACTTGTA TTATGAATGGTGAAGTAGAAAAAAATATATCTACAATAGAAATTTCCATT CAGAAAAGGGAAAAGTGGAAAACATACGGTAGTCATGAAGGTAAACTGCC AGGGCAAGAGAGTACGTTCATTGGTCAGCCCAGTTACAAGTCCAGGTTTT GTTCCCTGAGACAAAAACCCTGTCTATAGCCCTCCCTGGCCCTTAGCCTT ATTCCTTAGCAATTATTTTTCAAGAAGTGGGCAATGGGTCATGTGCTTTT GTTGAAGGTTACACAGATCTTGTTGTTGCATTGAATTTTGCAACATGTAT AACCAAATTCTGATTAAGTTTTATCAGCTAAATTTTGGCAGAGTCTGTAA CACTGCCAGTTATAAACTTAACCTTATTTTCCTTTATAATACCTATTAAG GATAGAAGTTTCTCATAAAGACTCACTTGGATAGGATCCCAACTGTTTTT ATCGTCTACTACACTAGTCATGTCAGTAGCTCGGTTAATACACCAAGAAT TTGAAATAAGTAATTATACATAAGGTATTTTCTGTAAGAGTGTTTTTTAG TATGAATTACTTCTTTAACATCTGGCATACCACTTAGAACATCCATAATC TATGTAATGTTCTTGATGTAAAGTTTTCTACAAGGAGTTCACTAGTCCCA TTACGCTTAACTATATGTTAGATCTTCTATTGTGAACTCTGTTTTTCAAT AGCTTATGAAGCTGTTTAAATTTGCTCTAGCTTAAAACTTGACAACTAAG GACCATCAAGATAATAATGCACATATTTTTTAAAGTTCATATATGTTTAC CAGAAGAGAGTGATATACTCTGTTGTACTGTCATCTTACAGAAGCCTTGA AATCTTTTTTGTCCTGTCTTACAAAAAGAAATGAATTGGCCGGGCGCGGT GGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCA CGAGGTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03540.hp1 HG01891.hp2 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0136 a0001c0004t0005g0137 a0001c0004t0005g0136 a0001c0004t0005g0137	2	150	0.0133	-2024	c.186 others(18): Show c.186+8810_186+10833del		USP32	ENSG00000170832.13	transcript	ENST00000300896.9	protein_coding	2/33						chr17	TogoVar
ADAMTS19_chr5_129455298_129743683	129588766	TTATTAAG others(2016): Show TTATTAAGCTTTACATGTGTTATTTATGGCCAGATATATGGGAATTTTAT TAAACCCAATTCAAGAGGTTTTTAAAGCAAGTTCCTTTTACCCTAATTTG ACTACTAATATATTTTACTTTATTTCTGTTTTCATTTTACCCGATATTTT CTCTCCAGTTGTTTTCTTTTTTACTTCTATTGCAATGATTATTTTAAATT TTCTTTTCCCCTATTATTTTGCTAGTTATTAATTATAGTTCTTTATATCA GTACTCATTTTAAAAAGTACATATTCTTATATTAACATAGTCTAAAATTA GTTATTTCTATCCTGAGTCTGAACAATAGTAGAGTTTAGATTTGTTCATG TTTTATCTAATTTTATGCTATTGAATTCACTATATTACTTCCTTCATTGC ATAAATCTCACATACCTCAAAACTTAGACATTATTATTACTATCACTGTT TTTTTTTAATTGAGAATGTTTATGAAGATTTTCATGCCAGTTTTCTTGTA TTTGCCCCTTGTTTCTATGGTCAGCTTCCTTTTTTTTGTAGCACTTTTTT TACTAGTTCCTTCACTGAGGGTCTTTTCCAGATTAATGCTTATTGTAATA GATAAATTTTCATTTATACATTTGTGTAGTTATTTATACATTATAATTAC ATATATGTTATCCAAATGTATAACGGATATATATGTATACACACAAGTAC ATTACAACTGTATACATCATACATTTGTGTATTTACTTGAACAACTTTTA TCACAGATCAGTGAAAGTTTTTATTCTCAAAAAACTGTTTATTACACCAA TAATTGTATATGAAGTATTATTATGAAGTGGTTTCTTTCTCTAACTTACA AAAAGATATATTTGGATTGTGGTGGCCCAGTAAATGTGAACTTCAAACTC TCTCTCTTTATGTTAAAAAAGTATTTATTTCATCATCATTTTTCTCTAGT TTTATATCTGTGGTCTGTCTCTTCACAGGGAAACATTTCTTTACTTGGTT TGTAATTATGATTTGTGAGCTCATATTCAGTGGAACATGTTTCCCCTTTG AGAACTTCATGCTTGCTGAGGTGATAAAGTGTCTTATCATAGTCATATTT CATTTGTTATCACAGGACTAGCAAAGATCTCCACATAATAGGAGATCTTT TATGTTACATATATGGCTTAGTATTTCTTAAGCTTCATACTGATGTTCAT GTGCTCACGGTAGCTTCGGGTTTTGATTTCTAGCATTCTCAGATTTTTTT TAAGCCAAGTTTTCTTGATACTTCCCTGCACTGACAGATTCTTAAAGTTA TTTTCAAATATGCTTGATGGTAGTTAACAACAGCATTTTCAGGCTTTTTG ATTTATGCATGAATCTCCATCCCCTACTCACCAGTACCTGTACTCACAGA CATTTTGAAACCACACATTTATTTAATCAGTTATATATCTTATCTGATAC TCAGGCAGTGGCAGCATCAATTCATGATTTTATCTCTCCAGATTTGAATT TTTTTAAACTTTAATTTTGCACCTGGGAATTATCTTTTCTTCTTCAACCT CAGCTATACATTCAAAAAAATGTATTTTACCTATGATTTGTGATTTCTAC GTGTTTTTAGCGAAAGGGGATTCAGTCTACCATGAAGCTAGAATGCATAA ACAACACTTTAATATCCATACAATATTCTATCTTATTTGATCAGAGATTT ATTATAACTTTTATTACACTCACTCCTTTCTCTTTCTAGATCAGTTTTTT CTTAGTATTCATAAAAACTGCACGTTAAGAGTGTTGTAAATTACTTAAAC ATTTAAGAAAATCTAGAAGGCTTTTTTAAAAATATTTTTTTAAAAATAGA AATTAACTGCGCTGACACCAAACTTGTAACTTCCGTAAGAGTATTTTTAC ATTCCTAGATCACCTTCTTGTCTTTTAATGAAACAGGCAGATTATTAGTC AACTAGTGAGACAACTTATTATTGAAAAATATGTTCAAAGCCCAATTTGA ATTTAATCATGTAAATGGGTTTCA	T T	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19081.hp1 NA19000.hp2 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0213 a0001c0003t0001g0214	2	224	0.0089	-2023	c.137 others(19): Show c.1373-7787_1373-5765del		ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	7/22					INFO_REALIGN_3_PRIME	chr5	TogoVar
CXorf51A_chrX_146809106_146819744	146810073	CAAAACCA others(2016): Show CAAAACCAACGCCCTCTGGCCTGACTGTGATCTCCCTGTAGGGCCTAAAG ACCACCAGGAAGGCGAAAAGACCCCTTCGAGGGAGCTCGAGCCAAAAAGC CGGTGAAACTAACACCCCTGCAGGAAAACCTAAGAAAGCTAGAGGACCAA TACTGCGTGGTCGTTATCACCGGCTGAAAGAAAAAATGAAGAAAGAAGAG GCCGACAAAGAGCAAAGCGAGACCTCAGTTCTGTGATGTCTCTAGAGGTC CGCCACTGAAAAGTCATCAATCATACAGTCAGTGAATTCTACACCAACAG GTTAAAACCATGAAAATAAAATCAACCTGAATCGAAAGGATATGTCTCTG TGACTTCTCTGATGGTGAGGAAGGAAGGAGTGAGGGGAAGAGGGAGGTGT GTGTGAGAAGGCAGGGAGGTGGCTTCTGTGGGGTTTGAGGCCAGACCAAC AGGTCCACAGCTGGAAACTGGGGGGATAAGGACTGGCTCAGGACTAAGCA CTGAAGATAAATTTCCTGAACACTTTTTAATACACAAAGAGTGAAAGGGG TTGGTGTTTCTACCTGTGTGTGTTTTGGTGGGGAAAGAGGGATGTGACTT CAGTGTATTGATTGTCAGAACCTGTATGGGGTGAGGTGTGTGGGTGGCAG TACTATCCCCAAAAACAGACAAGAGATAACCTGCAGGCCATCTACCTCAT AATGGTAGGTATGAGGTACACCCCACCCTATGATATAAGCAACTAAATGC CCTTCAAAGGGCCAAATATCTCTAAAAGTTACCAGCAGCACCTGAAATAA TGGTTACTAGATGCCACAAATCCAACACTGACTAGCCCACCTTCTTAAAA AGCTTAGGGCGGGGCAGGGCAATGGGAGTGGTCTACCTCTAGTGCGGGCA GTGAATGAGAGCATTGTCTACAGAGAATTTTAAAACAAGATAGCTCTCTC TCTCCGTCTTTTATTTTTATTTTTCCAAAGTTGTTTTTATCCCTAAAGAG AATATCATTTTTCAACAGCTTTACTGAAGTATAATTGACATATGACAAAC TGCACATGCTTAAAAAGTATACAGTTTGATGAGTTTTGTCACATCTGCTC TTGTTAAACCATCACAACTATAAGAGTGAACATACCCATTACCCCCTAAA GTTTTCTCATGCCGTTTGGCAATTCTTCCCTGTCCCTACCTCCACCATCA TTCTCAAAAAAACCCGCTGATTTGCTTTCTGTCACTATCTGTTTCTATTT TCTGGAGGTTTGTAAGAATGGAATCATAAGATATGTACTCTTTATTTTTT TCTAGTCCAGCTTCTTAGAACAACTATCTTTCCTTCCCAAAGATATTTTG TTTTGTTGGTCTGCTTTTTAAAAGATTGCTGTGGTCAATACGTTTTAATC ATGTGTCTACGGGAGTGGTCTTAAAACAGCACAATTTCTCATTATATTTT AATGAATACTTATTGTATTCTACAAGGAAATTCATGCAGATAATTTCCTG TTATACCATTGGCCTCAGGTATCACCTGACTCAGTTGTTGCTGTTTCTTT CTAAAGCAAGCTCCTAAGGATGTGGTATTTCTTGCAGTGCACTTTGGGCC ATAAGCCATGGTCCTGTATGACACACATACACCAGCATTTAAACAATATT TCTAAAACAATAATAGTACAGTCATTGATTTTAAAATAAAGGAATAAATA ATCTGAGTTTTTCCTGTGCTGTCATTCCATGTGACCACTTGTTTGGATGA TGCCTAAGTTAATAAAACAAAGTATGAATGGCAAGGTATAAATGTTTGAG AAGTTCAAATCTTTACTTCATTTCAACAAAAAATACTTTGTAAAATTGAA CTATATCTCTAAAAGTAAAATTTATTCTTCTTTAATTGTTTAATAGTTAT TTTAGAACTACAGACCAATTCAAGGAAATCAAATGTTACATATGTGGATA ATTTATTAATTGACTAATTTGTCCCTTCTGCATAATTTTTGGTTTTCTTA AAGTACCATTTTATATGTTACTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	263	0.0038	-2023	c.21 others(11): Show c.2111_*4133del		CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding					4032		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146810073	CAAAACCA others(2016): Show CAAAACCAACGCCCTCTGGCCTGACTGTGATCTCCCTGTAGGGCCTAAAG ACCACCAGGAAGGCGAAAAGACCCCTTCGAGGGAGCTCGAGCCAAAAAGC CGGTGAAACTAACACCCCTGCAGGAAAACCTAAGAAAGCTAGAGGACCAA TACTGCGTGGTCGTTATCACCGGCTGAAAGAAAAAATGAAGAAAGAAGAG GCCGACAAAGAGCAAAGCGAGACCTCAGTTCTGTGATGTCTCTAGAGGTC CGCCACTGAAAAGTCATCAATCATACAGTCAGTGAATTCTACACCAACAG GTTAAAACCATGAAAATAAAATCAACCTGAATCGAAAGGATATGTCTCTG TGACTTCTCTGATGGTGAGGAAGGAAGGAGTGAGGGGAAGAGGGAGGTGT GTGTGAGAAGGCAGGGAGGTGGCTTCTGTGGGGTTTGAGGCCAGACCAAC AGGTCCACAGCTGGAAACTGGGGGGATAAGGACTGGCTCAGGACTAAGCA CTGAAGATAAATTTCCTGAACACTTTTTAATACACAAAGAGTGAAAGGGG TTGGTGTTTCTACCTGTGTGTGTTTTGGTGGGGAAAGAGGGATGTGACTT CAGTGTATTGATTGTCAGAACCTGTATGGGGTGAGGTGTGTGGGTGGCAG TACTATCCCCAAAAACAGACAAGAGATAACCTGCAGGCCATCTACCTCAT AATGGTAGGTATGAGGTACACCCCACCCTATGATATAAGCAACTAAATGC CCTTCAAAGGGCCAAATATCTCTAAAAGTTACCAGCAGCACCTGAAATAA TGGTTACTAGATGCCACAAATCCAACACTGACTAGCCCACCTTCTTAAAA AGCTTAGGGCGGGGCAGGGCAATGGGAGTGGTCTACCTCTAGTGCGGGCA GTGAATGAGAGCATTGTCTACAGAGAATTTTAAAACAAGATAGCTCTCTC TCTCCGTCTTTTATTTTTATTTTTCCAAAGTTGTTTTTATCCCTAAAGAG AATATCATTTTTCAACAGCTTTACTGAAGTATAATTGACATATGACAAAC TGCACATGCTTAAAAAGTATACAGTTTGATGAGTTTTGTCACATCTGCTC TTGTTAAACCATCACAACTATAAGAGTGAACATACCCATTACCCCCTAAA GTTTTCTCATGCCGTTTGGCAATTCTTCCCTGTCCCTACCTCCACCATCA TTCTCAAAAAAACCCGCTGATTTGCTTTCTGTCACTATCTGTTTCTATTT TCTGGAGGTTTGTAAGAATGGAATCATAAGATATGTACTCTTTATTTTTT TCTAGTCCAGCTTCTTAGAACAACTATCTTTCCTTCCCAAAGATATTTTG TTTTGTTGGTCTGCTTTTTAAAAGATTGCTGTGGTCAATACGTTTTAATC ATGTGTCTACGGGAGTGGTCTTAAAACAGCACAATTTCTCATTATATTTT AATGAATACTTATTGTATTCTACAAGGAAATTCATGCAGATAATTTCCTG TTATACCATTGGCCTCAGGTATCACCTGACTCAGTTGTTGCTGTTTCTTT CTAAAGCAAGCTCCTAAGGATGTGGTATTTCTTGCAGTGCACTTTGGGCC ATAAGCCATGGTCCTGTATGACACACATACACCAGCATTTAAACAATATT TCTAAAACAATAATAGTACAGTCATTGATTTTAAAATAAAGGAATAAATA ATCTGAGTTTTTCCTGTGCTGTCATTCCATGTGACCACTTGTTTGGATGA TGCCTAAGTTAATAAAACAAAGTATGAATGGCAAGGTATAAATGTTTGAG AAGTTCAAATCTTTACTTCATTTCAACAAAAAATACTTTGTAAAATTGAA CTATATCTCTAAAAGTAAAATTTATTCTTCTTTAATTGTTTAATAGTTAT TTTAGAACTACAGACCAATTCAAGGAAATCAAATGTTACATATGTGGATA ATTTATTAATTGACTAATTTGTCCCTTCTGCATAATTTTTGGTTTTCTTA AAGTACCATTTTATATGTTACTTT	C C	exon_loss_variant others(5): Show exon_loss_variant splice_acceptor_variant 3_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	272	0.0037	-2023	c.133 others(12): Show c.133-40_*1788del		CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding	2/2						chrX	TogoVar
BACE1_chr11_117280698_117321256	117310194	GCTGCTGA others(2013): Show GCTGCTGAACCTGGCCCTTTCGTTTAAAAGAATAAAAATACTTTCTCTAA GAGCTACAGTTCTGCATTTACAACTGCCTGTCAACAGTTCTGTTTAGAGG CTTGCAGCTTATGTATTCATTCACTCAATGTTTTTTAGGTGTATGTTCTG AGCTTGGTATTGTTATAGATTATTATAACACAAAGAGAGGATACTGCAAA ATAAATAAATAAAATTAAAAAGACATTGTCCTTAAGAGCTTGAAGTTTTG TTTGTTTGAGACAGAGTCTCGCTCTGGAGTGCAGTGGTGCAATCTCAGCT CACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAGCCTC CCGAGCAGCTGGGATTACAAGCGCCTGCCACCACGCCTGGCTAATTTTTG TATTTTTAGTAGAGACAGGGTTTCACCATATTGGTCAGGCTGGTCTTGAA CTCCTGGCCTCAGATGATCCTCCTGCCTCAGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACTGCGCCTGGCCAGAGCTTGAAGTTTTATGAGAGA AACAAACACAAAAACAGTTGTAATACATTACAAGTGTAGTAATGGAGATA TAAGCAGGTGTAATGGGAGAATGGAAGAGGGATGCTTGTGATAACTTCTT CTTCCCCAAGACAAATGGCACAGTAGGAAGAACAAGGATGAAACAGGTCT TAACTTACTGGCCTTCTACCTGGCCAGTGGTTTAACCTTTCAACCCCATT TCTTCTGCTAGACACTGTGAGTGATAAAGACCTTTTTTTTTTTTTTTCTT TTTTGGAGACAGGGTCTCTGTCATCCTCTGACAAGCTGGAGATTGCAGTG GTGCAATCACAGCTCACTGAAGTAAAGACCTTTTATATATTGCAGGAATT GCTGTAAGGGAAAAACTAATAGGAGGCTAAGGTGGAAGTATCACTTGAGC CCAGAAGTTGGAGACCAGCCTGGGCAACATAGTGAGACAATTTGAAAAAA TCAGCTGGGGCTGGTGGCATGTGCCTGTAATCCAAGTTACTCAGGAGCCT GAGGCAGGAGGATCACTTGAGCCCAGGAGTTACGATTGTGCCCCTGTACT CCAGCCTGGGCAACAGAGAGAGACCCTGTAATTAATAAACAAGCAAATAA ATTTGTATACAAGTACTATAAGCCATCCCCTCCTGCCACCTTTCCTATTC CCACAGTCTTGTTATCCTCCAGTTCACCCCAGATCAGAATCTCAAAACCA TCTTTGATGCCCTCTTCCTTTCCCTTCACACCAATGTCACCAAATCCTTC CCACCTGCCCTGGCACGTTCTCTGCATCCTGCCCTTCCTTTCTCTTTCCA TCTTATTGCAGCCTCATGCCCTCCTTGTCATAGAGGGCCTCACACCTGGA CTGTTGTGACAGCCCCCTGTGCCTGTGTCTTTCAGTCCTACTCTTTTTAT TTTTATTTATTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGT GCAGTGGCGCAATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGA GATTCTTCTGCCTCTGCCTCCCGAGTAGCTGGAACTACAGGCACGCGCCA CCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATA TTGGCCAGGTTGGTCTCGAACTCCTGACCTTGTGATCCACCTGCCTTGGC CTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACACAGCCCCCAC TCTTTTTAAAATTCAGATGTCTCTTCCTGAAAGATTGCTTTCTTCATGTC ATTCCCCTGCCCCAATAAATTCAGATTTTCCCTTATATCTGAAGGCCAAA GTCCAAACCTTATAGTCTCACATTTAAGCTTTATGGCTATTTGGCTCTAT TTTATTTACCCAAACTTATCTGGTCTTAGCCTAAACCTGTAATATTAACA GGACTGGCTCTCTATTGTCTCCTAAACAACCATGCTTAAGCCCTAACATC CATAACTCATCCTCTCATTCA	G G	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18966.hp1 NA18969.hp1 others(2): Show NA18747.hp1 NA18966.hp1 NA18969.hp1 NA18973.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0046 a0001c0002t0001g0025 a0001c0001t0005g0046 a0001c0002t0001g0025	5	398	0.0126	-2020	c.261 others(17): Show c.261+3321_261+5340del		BACE1	ENSG00000186318.18	transcript	ENST00000313005.11	protein_coding	1/8						chr11	TogoVar
KCTD1_chr18_26449910_26553553	26450445	TAAACAGG others(2013): Show TAAACAGGATATTTATAGTCTCATAGTGTCATCCCACAGGTAATCATTAA TTACAAAAAGAAAAAGCTACCTTTACACTGGATAATTTGGTGAATGTTAC TTTAACCAAGAGGCCAAAACTGCCATTACTAATATGGGTCAAACTGAGTC TTGTGATATAATTCACTGAGGACATGATATCACCTATGTCTGCAGATGTC TTGTTTGGGCTGTACATTTGAAAAAAAAATGAGTTAGCTCCAATATTTAC ACATCTAGAGATTTCACACAAAAGTCTGGATTCCCAGGTTTTCTAGAAAA ATGAGATGTTTAAGTAGAAGGACGCCGTTCTCCTATAGCTGCAACCTGCT GGGGTTGAGTAGGGGCTGCTCCTTCAAATGCTCCAGTTTGGCCATCTCTT ACTGATTCATGTAACTTGCCCAGCCCTTGGAGACATCTGAGTTTGCTGCG CTAACACTAAGGTGATGTCTTATTTTCTCATACAACTTTATGTCATCAGC TCTTAGCCTGCTTCATTCATCATGAATGGATGAATGGGGAAAACAGCCAC TTAACTGCCCCTCCCACCAACAGACTGTTCCCGGACAGTCAAGCCTGCAG ACTCCCTAAATGAGTATCTGCCCACCTTCTGTGATTCTCCAATGGTTCCT AAATAAAGTCCAAATCCTTGTCTGGCAGTCAAGATCAGCTCCCCTCTCAC ACTCCCAAAATCCAATTCCACCTTCCTTTTCTAGCCCATGCTTCCCTCGT CCCACACCATGTGCTGACCCTGCCTTGTGCTTCTCCAGCTCAGAGCCTCT GCCCCACCCCCAAATACTCCTTCCTTGCAAAGCCTACCCATCTTGCAAGC GCCACCTCCCCAAAGGATGGTTTTTCTAATTTCCCAGACTAGATATGATC CCATATGATTGGGCATTTCTAGAATCCTTGGTTTGTAAATATGAAATGAC ACATATTCCATTGTGCCTTGGACAGTAGTTAGGTATGCACATACCTTAAT TCACCTCTAGATGTGCAGAGAGCCCCGCTCCTCTCACTCCCCGGAAACCC ACAGCGGAAACCATGTCATGGTCGCCCTAGTATCAGCAAAGCCAAGTGCC CAACATACTGAAGAAGATGGTCAAAATACTTAACTATAGGAGTGCATTTC CGTTATAAGGAGAAAATGCTATTAACTAATAATCTACTCCTTCCTCCTAT TGCAACATAAAAACTTACTTTTTCTTAAATAGTTGTTTTGGGTCCTCTTT ATAAAACTTAATCAAACATTAGCCTTTATCATATCCTTTATTTGATGTCT TAGGTTCTTAGTTACTTTAACCAAGAAATAGAGATGGATAATACAACCTC CAGTGTGGTCATAAGGATTGAATGAGTTAACAGGTAAAGTGCTCAGTATG GGTCTGGCACACAGCAAACACTAAATGGATGACTATTATTATTATGGAGA AACTCCTCATCTAATATTTGGAACCAATTTATAAGTGGCTTGCCTTATTC TAGTTTTCTAAAATACTTCTTAGAAAAGAGCAGGTCAAATAGTGTAGCTT GTCTGCCCTAGACTAAAGAAATATATTTTGCTAAAGAAAAAAAAAAAGAT TATTTCAACTATCAAAGATTCAGGCAACAGTGGCTTTGAGATAGTCTTGC TCTGTCGCCTGGGCCGGAGTGCAGCAGTGCGATCTTGGCTCACTGCAACC TCCACCTCCTGGGTTCAAATGATTCTCCTACCTCAGCCTCTCAAGTAGCT GGGACTACAGGCACGTGCCACCACGCCCAGCTAATTTGTGTATTTTTAGT AGAGACAGGGTTTCACCCTGTTGGTCAGGATGGTCTCGATCTCTTGACCT CATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGTGCACGGCCAACAGTGGCTTTTTAAAAAGCAAACTTTTATAGCT ACCAAGGTAATGATTGATTCAGGAAAGGATTACCAATGGATGTTAAAACC ATCTGGTGAGAGTGTGTTGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	336	0.0030	-2020	c.32 others(11): Show c.3278_*5297del		KCTD1	ENSG00000134504.14	transcript	ENST00000580059.7	protein_coding					4464		chr18	TogoVar
ACBD6_chr1_180283230_180507577	180349299	GCCCAGGC others(2009): Show GCCCAGGCTGGCTCGCGGGCGATCTCGGCTCACTGCAAGCTCCGCCTCCC AGGTTCACGCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAG GCACCCGCCACCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGG GTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCG CCTGCCTCGGCCTCCCAAAATGCTGGGATTACAGGCGTGAGCCACCGTGC CCAGCCTTTTAATTTCTTTAGTATAAAAAAATAAATAAAATTTTTTTTAG TATAATAAATTTTATGTGTTGCCAAAGCAACCACTAAAGTTAGCTTTTAA AAATGGATTTAATTTTTCCATTAAAGATGGGCTTTGTTAGAGTCGTATGA CCTTGTTTATTAGTGGGCCTTTCTCTTTAATATTGTTTTATCCTGAAATA AATCACTTCCTATTCTTGTTAGCTTCTCTTTCTATCCTGCATAGAGTTTT TATTAATGTTTCAAATCCTCTTTGGTTTTTCCTCTAAATGTCACTGTAAA ACTGATTTTTTTCTCAAGTCTTGAAACCTTTAAGCTACCATAAAATCACG TAAATATTTTTTTTTCTATTTGTATTCTAATTTCCTCCTCCTAACAACTG CATAATTTTGATGTAATCAACCAGGCTACACAATAATAGTACAACTAAAG GTGTTTCAGTCCTCTCCAGTGACCCTTTTTTTTTTTTTTTTTTTTTGAGC AGAGTCTTGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGCGATCATAGCT CACTGCAGCCTCGATCTCCTGGGCTCAAGCGATCTCCCTGCCTCAGCCTC CAAAGTAGCTGGGACTATAAATGCAGGCCATTATGCCTGGCTAAATATTT TTTACTTGTATTAATAGAAAAGATAAGGTCTCACTATGTTGCTCAGGCTG GTCTCCAACTTCTAAGCTCAAGCGATTCTTCCACCTTGGCCACCCAAAGT GCTTGGATTACAGGTGTGAGCCACCATGCCTGGCCGACTCCTAATTCTGA TTTCTTCCCAGCATTTCACTCAATGTGTTAAGAGACCCTAGTTCAGGTAT TTGAGAAATCGATCTATATTTTCTATTGTTGTTACCGAAACACAAATCCT TGGTCAATTCAACATCAATAACCAAAATTAATACAAGGGTATCTTCACTG GTATTCCTTCCTATTCCCTTTCTCCCTAGTAACAGTACACTGTTACTAAT CACTCTAAAAAATTCCTTATAGTCCTCATTTAAAACACACCCACACTCAC CCAAATTCCTTACTCTGAGTATTTATGGCTTCCATAGTCTGCCCGAGCTG TTTCTGCTACCTATCCCTTTCCACACCTCAGCATCCTTCAAATATCACCT AGCCTTTACAGTACAAGATAGGCCACAATTCATAACTGAAGATGTCTCCA ACTACGGTGCTCCCTAGTAATCTCTCCCTTTTTTTCCTATTACCTCTTCC AATGCACTTGCAGATGATCTCTCATTATGGGATTTGGTTATAGTCTGGCT CATAATTGTTCTTTAATAATTTAACGAGTTTTCTACTGTCTCAGATAGTA AGCGATGTCAGGGCAGGAACCACAGTTTGTACCTCTTGTGTCTCCTAATG TCTTGTTGCATCCAGGTCATGGAGTAAGTATTTAATAAAATATTTGAGTT AAATTTAATAATTTCAGGGCTGTTACTTTTCCTATGTTTATATTGCTGAT TTTATTCTTATGGTAATCTGTATGCAGAATTTCTAGTAACTACTCTTAAC CATAATAAATAATCCTATGAAATATAATATAGGTGAATTGCAGATATCTA TTTCCATAGAAAACTGATAAAAATATATAGGTTTATTCTCAATCTAGACA TCTTTATGTCATTCTATAGCTTATATTACTTTTCAGGTATCCCTTTAATC TGGGTGCTGTCAGTTACCTGCCAGATATTACGTTTTTTTTTTTTTTTGAG ACAGTCTTGCTCTGTCA	G G	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	332	0.0030	-2016	c.664 others(19): Show c.664-36593_664-34578del		ACBD6	ENSG00000230124.8	transcript	ENST00000367595.4	protein_coding	6/7						chr1	TogoVar
ADPRHL1_chr13_113394611_113458488	113434899	TGTAGAGT others(2009): Show TGTAGAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGT GAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAG GTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCC CAGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCTGGGACCC AGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCAGGACCCGGCACCCA CGCATAGAGTGAACATAGGTGTACCCTGTGACCCAGCACCGAGGCGTAGA GTGAACATAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACAC AGGTGTACCCCGGGACCCGGCACCCACGCATAGAGTGAACATAGGTGTAC CCTGTGACCCAGCACCCAGGCGTAGAGTGAATATAGGTGTAGCCCGTGAC CCAGCACCCAGGCGTAGAGTGAACATAGGTGTACCCCAGGACCTGGCACC CAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCACCCAGGTGTA GAGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAAC ACAGGTGTACCCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGT ACCCCGGGACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGG ACCCAGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCA CCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTG TAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGA ACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACACAGGT GTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCCG GGACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAG CACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCTGGCACCCAGG TGCAGGGTGAATACAGGTGTACCCCGGGACCCAGCACCCACATGTAGAGT GAACATAGGTGTACCCCGGGACCCAGCACCCAGGCACAGAGTGAACATAG GTGTACCCTGGGACCCAGCACCCAGGTGTAGAGTGAACATAGGTGTACCC CGGGACCCAGCATCCACACGTAGAGTGAACACAGGTGTACCCCGGGACCC GGCACCCAGGCGCAGGGTGAACATAGGTGTACCCCGGGACCCAGCATCCA CACGTAGAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGA GTGAACATAGGTGTACCCCAGGACCCGGCACCCACGCATAGAGTGAACGT AGGTGTACCCTGTGACCCAGCACCCACACGTAGAGTGAACACAGGTGTAC CCCGGGACCCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGAC CCAGCACCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCCGGCACC CAGGTGCAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTA GAGTGAACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAAC ATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGT ACCCCGGGACCCGGCACCCAGGTGCAGGGTGAACATAGGTGTACCCCGGG ACCCGGCACCCAGGTGTAGAGTGAACACAGGTGTACCCCGGGACCCAGCA CCCAGGTGTAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTG CAGGGTGAACATAGGTGTACCCCGGGACCCGGCACCCAGGTGTAGAGTGA ACACAGGTGTACCCCGGGACCCGGCACCCAGGCGCAGGGTGAACATAGGT GTACCCCGGGACCCGGCACCCAGGTGTAGAGTGAACATAGGTGTACCCTG TGACCCAGCACCCACAC	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01255.hp2 HG01358.hp1 others(3): Show HG01123.hp2 HG01255.hp2 HG01358.hp1 HG01952.hp1 HG02148.hp2 HG02273.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0034 a0001c0001 a0002c0002 a0002c0034	a0001c0001t0001 a0001c0001t0007 a0002c0002t0078 others(1): Show a0001c0001t0001 a0001c0001t0007 a0002c0002t0078 a0002c0034t0002	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0185 a0001c0001t0007g0049 a0002c0002t0078g0051 a0002c0034t0002g0050	6	248	0.0242	-2016	c.380 others(17): Show c.380-3048_380-1033del		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	2/7						chr13	TogoVar
DHRS4L2_chr14_23983929_24011403	24001948	TTTCCTCT others(2008): Show TTTCCTCTTCTTTTTTTTTTTTTTTTCTTTTTTAATTATTATTATTATTA TACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAACGTGTCATCTAGC ATTAGATATATCTCCCAATGCTATCCCTCCCCACTCCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGTGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAATGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATAGTCATTTGGGTATATACCCA GTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGG AATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCA ACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGT TTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGATATCTC ATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTT TTTCATGTATTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGT TCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAA ATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGA GTAGGTTGCGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGA TGGTAGTTTCTTTTGCGGTGCAGAAGCTCTTTAGTTTAATTAGATCCCAT TTGTCAATTTTGGCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAA GTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTA GGGTTTTTATGGTTTTAGGTCTAACGTTTAAATCTTTAATCCATCTTGAA TTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACA TATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTC CCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTGGATA TGCGGCATTATTTCTGAGGGTTCTGTTCTGTTCCATTGATCTATATCTCT GTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATA GTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGG ATTGACTTGGCGATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGT AGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGG CATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTG ATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTCCTC TTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCA CATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATT GTGAATGGGAGTTCACTCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGT GTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTT TGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGG TTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTC CTCTTTTCCTAATTGA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA20752.hp2 HG01256.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0001 a0002c0002t0003	a0002c0002t0001g0004 a0002c0002t0003g0005 a0002c0002t0001g0004 a0002c0002t0003g0005	2	30	0.0667	-2015	c.665 others(15): Show c.665+443_666-363del		DHRS4L2	ENSG00000187630.18	transcript	ENST00000335125.11	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRG2_chr5_139841781_140048299	139988021	GCCTCGGC others(2007): Show GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCA GCCTCTGCAGGTTGATTTTCAGAAACTAATTCAAGATACATATCTATTAG AATGGCCAAAGTCCAGAACATGACAACACCAAATGCTGGTGAGGATGTGG AGCAACAGGAATTCTGGTTCATTGCTGGTGGGAATGCAAAAGGGCACAGC CACTTTGGAAGATAGTTTGACAGTTTCTTACAAAACTAAACATACTCTTA CCATATAATCCAGCAATTGAGCTCTCTGGTATTTACCCAAAGGAGTTGAA AACTTACGTCCATACAAAAACATGCACACAGATGTTCATATCATCTTCTA TAATTGCCAAAACTTGAAAGCAACCGAGTTGGCCTTCATTAGAGGAATGA ATAAACTGTGGTAAACCAGTAAATGAAATATTCAGTGCTAAAAAGAAAAA AGCTATCAAGCCATGAAAAGATCTGGAGGAACCTTAAATCCATATTGCTA AAGGAAAGAAGCCAATTGAAAAGGTTACGTATTATATGATTCCAACTGTA TCACATTCTGGAAAAGGCAAAACTATGGAGAGAGTAAAAGGATCAGTAGT TGCCAGAGGTTGGGGCAAGGGAAGGATGAATAGATGGAGCACAGAGGATT TTCAGGGCAGTGAAAATACTATATGATACTATAGCGAATGTATGTCCTTA TACACATGTCCAAACCCATAGAATGTACACCACCAAGAGTGAACCCTAAT GTAAGGTATAGACTTTGGGTGATAATGATGTGTCAATGTAGGTTTATCTG TTGTAATGTATGTACCACTCTCGTGGGGGATATTGTAATTGGGAGCCTGA ACATGTATGAGGGCAGAGGCCATATGGGAAATCTCTGTACCTTCCTTTCA ATTTGACTGTGAGCCTAACACTGCTCTAAAACAAACAGTCTTAAATATAA TAAAATTGGCCCCGGTCTCACACCATAAAAAAGAAAGACATTAATTGAAT TTGTTTGAAGATTAAGGTACAAGGATGTTCATTTTAGACCTTTACTGGAG CAAAAAATATTGTAAACAACTTAGATGTACCATAAGAGCAGACTGTTAAA TTATGGAAGATTTGTACAATAGAATATTCCTTGCCTCCCACATCTAAGTC ATCAGAGCAAGTTCTCCATTATCTCCGGAATAGATTCTGATTCTGTTCAT TACTCTCCATCTCAATGGCCACCACTGGAGAACAATGCCTCACCCTCCTT CATCTGGATACTAAACATCTTCCTAACTGGTCATCCTGCTCCAGCTTCTA CTCCTTTGATCCATTCTTCACATAGCAGTCAGAGCTGTCTACTTTGCTGC CTGGCTAGCTAGCTAACCATTTGTTTAAAGTATTAAAAGCACCCATAAAC CTACCACATTTGGCCCCTACCCATGCCATGTCCTAACACCTCCCATGCCA GGCAGCCATCAACCTGAATCCTCACTCCCTTGCTTTCCTTTTTATATAGT GTTATTGCATCTATAAGAGTTCCTAAATACACATATTTTTAAAGTTTTTA ATTTAATAAAAAATATCCCGTGGCACGCAATAATTTTTGCACTTAGTGGT ATTTGTTAAGATTCACGCATGTTGTTGCATGTCACCACAGTTCATTCATT CAAACAGCTGTGTAATATTCCACTGTAGTTATGGATTTAGTTTATTCAGT CTCTTGTTGATGGGCATTGAAGATTTTTTGCTAGGTTTTTATTATTATTA TTATTATTTATTTTATTTTATTTTTTTATTTTTTTTTGAGACAGAGTCTT GCCTTTTGCCCAGGCCGGACTGCAGTGGCGTGATCTCGGCTCACTGCAAG CTCCGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGC TGGGACTACAGGTGCCCACCACCACGCCCAGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGAC CTTGTGATCCGCCCA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01433.hp2 HG01109.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0164 a0001c0001t0001g0110 a0001c0001t0001g0164	2	186	0.0108	-2014	c.700 others(19): Show c.700+52335_700+54348del		NRG2	ENSG00000158458.21	transcript	ENST00000361474.6	protein_coding	1/9						chr5	TogoVar
VPS13B_chr8_99008274_99882580	99593624	ACTATTCA others(2006): Show ACTATTCACAATAGCAAAGACATGGAATCAACCTAAATGCCCATCAGTGA TAGACTGGATAAAGAAAATGTGGTAAGTATACACCATGGAATAGTGTGCA GCCATAAAAAGGAACAAGATCGTGTACTGTGCAGGGACATGGATGGAGTT TAAAGCCATTATGCTCAGCAAACTAATACAAGAATAGAAAACCAAACACC ACATGTTCTCACTTATCAGTGGGAGCTGAATGATGAGAACACATGGACAC AGGTTGGGGAACAACACACACTGAGGTCCATGGGTGGAGGGGTGAGGGAG GGGTGGAGAGATGGAGAATATCAGGAAGAATAGCTAATGGATGCTGCACC TAATACCTAGGTGATGGGATGATCTGTGCAGGAAACCACCATGGCACAGA TTTACCTATGTGACAAACCTGCACATCCTGCACATGTACCACTGAACTTA AACGTTAAAGGAAAAAAAAATGCTTTTCTTTTGCATCAGGGGAGTTAAGA GAGAATGGAGAGAATTGTTGCAGATAAGGTCTGTTTGTTGATTTTTCTCA GGATATGAGTCTCGGGGGACATGTAAGAAAGAAAACATAGTGGTCAAGAA CTTGAGCTTTGTTGTTGGAGTCCGGCAATAAATCCCATCTCCTGTGTTTA CTTTCTGTGTGGCCTTGGACATGTTACTTTAATTCATGTGAGCTTCAATT TAATCATCTGCAAAATTGAGATAATAATAGTCTTCCCCAATGGGGTTGTT GTAGAGATTAATTGGGAAGCTGTTTCTTAAGCATTTTCCATAGTGATTGT TATATAATAAGAACTCAATAAAAGCCATCACCATCATTGTCATCTCATCT AGAGATCGTTAATTTTCATCTCTTTTTCTATCTACTACATTATATCTTGC CCAAGATCCTTCTCCTGTTTGCTTGATTATAGAGCATATATGACTATTGC TTAATGTTTTTGAGCTTGATTGGATAAAAGAATGATGTAATATTATGCTC CAATGTCCTATTTATCATCTGGCAGGCTTTGAAAGGGTGTCTGTTCCATA GACTTCTGTCCAGTTGATAACACAGTTTGCTCCAGCAGCTTATTCCTCAG GTAAATGAGATCTTGCTGAAACTACAGTTGATAGTGAGATGCTTCTGTAA GCACTGGGGTTTTTTTCAGGTGGCAGACTAACAGAAGGATGTGTGTATCC CACTGCTTTGCTCTGCTCACCTTGCTCTTTTCACTCAGGATTCACTGTTG ACTTTTCTCAGCCATAGGAAAGGTTTACATAACCAATCTTCATGAAATCA GTTAGGACTGTTATTAATGGGTCACTGTCAAATTAATTATTGCTGAAATT TTAGCTCTTTGCAATAGATGAAGCAACTGTTAAAGCTGCATTGAAAGACA CTTGCATTTTCTCCTCAAAGATTCATTATTCCCAGTGTTTCTCTTCATAA GCTCTGTATGGTTAGTGACCCATATATGACCCTCTAAAATTGTTAAGAGC TTCAAAAGTCAATCCTATATTGAGTGCCCTATATTTTTTTGAACTATTTG TTGGGGGTTACATATAGATGAAAAATGTTAAACTTTCATTAATATAAAAA TGTATGACAAAGCAACAGCAATCAAGACAATATGATACTGGCATAAGGAT AGACATATGGATCAATGAAATAGAATTGAGAGTTCAGGTACTAACTCTCC TGTTTATAGTCAATTGATTTTTGACAAGGTAGTCTAGATCATTCAGTGGA GGAAAGAATAGTATTTTCAAGGAATAATGCTAGGATGACTGGATATTCCC ATGCAAAAGAATGAAGGAAAATGCCTAAATCATATCATATGTAACTCAAA ATGGATCAAAGACCTAAATATAAAGAGCTAAAACTATAAAAATCCTTGAA GAAACTATAGGTGAAAATGTTCATGATGTTTGATTAAGCAGTGTTTTTTT AGATATGACACCAAATCACAAAAACTAAAAAGAAAAAGAATAGATAAATG GAACTTTAAAAACC	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0121 a0001c0021t0001g0121	1	132	0.0076	-2013	c.522 others(21): Show c.5220+15994_5220+18006del		VPS13B	ENSG00000132549.20	transcript	ENST00000357162.7	protein_coding	33/61					INFO_REALIGN_3_PRIME	chr8	TogoVar
OR2W3_chr1_247890587_247901531	247892317	TACATTTA others(2005): Show TACATTTAAGGTTAATATTGTAATGTGTGAATTTGATCCTGTCATTATGA TGTTAGCTGGTGATTTTGCTCGTTAGTTGATGCAGTTTCTTCCTAGTCTC AATGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTT CCTTTCCATGTTTAGCACTTCCTTCAGGAGCTCTTTTGGGGCAGGCCTGG TGGTGACAAAATCTCTCAGCGTTTGCTTGTCTGTAAAGTATTTTATTTCT CCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAA ATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTT GTAGGGTTTCTGCCAAGAGATCCGCTGTTAGTCTGATGGGCTTCCCTTTG AGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCAT TTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCA AGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCC TGCCTTGCTATATTGGGGAAGTTCTCCTGGATAATATCCTGCAGACTGTT TTCCAACTTGATTCCATTCTCCGCATCACTTTCAGGTACACCAATCAGAC GTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCA TTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATT TATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGC ACCTGAGGCTTCTGCATTCTTCATGTAGTTCTCGAGCCTTGGTTTTCAGC TCCTTCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACA TTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAA TGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTC AGCTCGTCAAAATCAATCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGA ACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAG TTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGT CTTTGATGATGGTGATGTACAGATGGGTTTTTGGTGTGGATGTCCTTTCT GTTTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTT GGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCT CCCAGTTAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGC AGTCTGCCCGTTCTCAGATCTCCAGCTGCATGCTGGGAGAACCACTGCTC TCTTCAAAGCTGTCAGACAGGGACATTTAAGTCTGCAGAGGTTACTGCTG TCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCA GGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCAGG CTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCC AGCCTCGCTGCTGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATC AGCGAGATTGCATGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGT CTCGTGGTGCGCCGTTTTTTAAGCCGGTCTGAAAAGCGCAATATTCGGGT GGGAGTGACCTGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTGG GAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCG CCCTGCTTCGGCTTGTGCACGGTGCGCGCACCCACTGGCCTGCGCCCACT GTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAG AAATCACCTGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCT GTTCCTATTCGGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00438.hp1 others(61): Show HG00099.hp1 HG00323.hp1 HG00438.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG01074.hp1 HG01109.hp1 HG01192.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02148.hp2 HG02273.hp1 HG02523.hp1 HG02559.hp2 HG02683.hp1 HG02738.hp1 HG02886.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03209.hp1 HG03225.hp1 HG03486.hp2 HG03516.hp1 HG03831.hp2 HG04228.hp2 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18945.hp1 NA18945.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18981.hp1 NA18982.hp2 NA18986.hp2 NA18993.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp1 NA19062.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp1 NA21309.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0018 a0025 a0026	a0001c0002 a0001c0003 a0002c0001 others(10): Show a0001c0002 a0001c0003 a0002c0001 a0003c0004 a0003c0016 a0004c0005 a0005c0006 a0006c0007 a0007c0013 a0009c0010 a0018c0020 a0025c0029 a0026c0033	a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 others(10): Show a0001c0002t0001 a0001c0003t0001 a0002c0001t0001 a0003c0004t0001 a0003c0016t0001 a0004c0005t0001 a0005c0006t0001 a0006c0007t0001 a0007c0013t0001 a0009c0010t0001 a0018c0020t0001 a0025c0029t0001 a0026c0033t0001	a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 others(10): Show a0001c0002t0001g0000 a0001c0003t0001g0000 a0002c0001t0001g0000 a0003c0004t0001g0000 a0003c0016t0001g0000 a0004c0005t0001g0000 a0005c0006t0001g0000 a0006c0007t0001g0000 a0007c0013t0001g0000 a0009c0010t0001g0000 a0018c0020t0001g0000 a0025c0029t0001g0000 a0026c0033t0001g0000	64	386	0.1658	-2012	c.-32 others(11): Show c.-3269_-1258del		OR2W3	ENSG00000238243.3	transcript	ENST00000360358.3	protein_coding					3269		chr1	TogoVar
USP17L20_chr4_9253124_9264716	9257388	AAAGACTT others(2004): Show AAAGACTTGTCTTGTTCTCCCCTGGCAGGTAATTTCACTCGGACAGAGAA TCAATAGGCTCAACGTGGAAAGGTTATCGCTGGAAGGTCTGTTTGATTCC ACGGATCTCTCCTTTCTCACTAGGGAAGAAAATACGCTGTGCTAAATACT ATACTTCATTGACTATTCTCAGGTCAGAAAGCGCACTTTCGACTTCTTGT CCTTCCGTCGCTGAGAGGATGATGGCAGCTGCCAAAAGTACCTACTTGGA GGTTCATCCCAGCACAAACACACACACACACACGCCCCCCCCCACACACA CACAAACACACTCACACACACACACGCACACGGTTTCCTAGGTAAAGATT TCTTCCCTGCCATTGCTTTACCTAAAATAAGGCAACTGTGAGGCCACTGT CCCAACCCGGTTACACTCCTATTATATGTGCCTATCATCCTGAGGAGTAA TTTGATTCAGGTGTTCTGGAAGTCATGCTGTGGGCTGTGTCTGTTGAATT CCCAGCGATGCCAGGGGACACACCCTGTGACTCCTTCCTGAATTGAGTGC TGTTATTTGATTGGCTTATCGCGCACCTGATGAGTGGGTGGGGTGTTCGC GGTTGGTGGGGGTGACTTATAGAAGGGCTGATGCGGCCAGAGAGCTCGTC ATTTGAAGACTCTCTCGGAAGGGATAGCGTCTTTCTGCAACCTGCGGTCC CAGCAGAAAAACCTTGTGATCCTCGTTCCAGTCGACATGGAGGACGACTC ACTCTACTTGGGAGGTGAGTGGCAGTTCAACCACTTTTCAAAACTCACAT CTTCTCGGCCCGATGCAGCTTTTGCTGAAATCCAGCGGACTTCTCTCCCT GAGAAGTCACCACTCTCATGTGAGACCCGTGTCGACCTCTGTGATGATTT GGCTCCTGTGGCAAGACAGCTTGCTCCCAGGGAGAAGCTTCCTCTGAGTA GCAGGAGACCTGCTGCGGTGGGGGCTGGGCTCCAGAATATGGGAAATACC TGCTACGTGAACGCTTCCTTGCAGTGCCTGACATACACACCGCCCCTTGC CAACTACATGCTGTCCCGGGAGCACTCTCAAACGTGTCATCGTCACAAGG GCTGCATGCTCTGTACGATGCAAGCTCACATCACACGGGCCCTCCACAAT CCTGGCCACGTCATCCAGCCCTCACAGGCATTGGCTGCTGGCTTCCATAG AGGCAAGCAGGAAGATGCCCATGAATTTCTCATGTTCACTGTGGATGCCA TGAAAAAGGCATGCCTTCCCGGGCACAAGCAGGTGGATCATCACTCTAAG GACACCACCCTCATCCACCAAATATTTGGAGGCTACTGGAGATCTCAAAT CAAGTGTCTCCACTGCCACGGCATTTCAGACACTTTTGACCCTTACCTGG ACATCGCCCTGGATATCCAGGCAGCTCAGAGTGTCCAGCAAGCTTTGGAA CAGTTGGTGAAGCCCGAAGAACTCAATGGAGAGAATGCCTATCATTGTGG TGTTTGTCTCCAGAGGGCGCCGGCCTCCAAGACGTTAACTTTACACACCT CTGCCAAGGTCCTCATCCTTGTATTGAAGAGATTCTCCGATGTCACAGGC AACAAGATTGCCAAGAATGTGCAATATCCTGAGTGCCTTGACATGCAGCC ATACATGTCTCAGCCGAACACAGGACCTCTCGTCTATGTCCTCTATGCTG TGCTGGTCCACGCTGGGTGGAGTTGTCACAACGGACATTACTTCTCTTAT GTCAAAGCTCAAGAAGGCCAGTGGTATAAAATGGATGATGCCGAGGTCAC CGCCTCTAGCATCACTTCTGTCCTGAGTCAACAGGCCTACGTCCTCTTTT ACATCCAGAAGAGTGAATGGGAAAGACACAGTGAGAGTGTGTCAAGAGGC AGAGAACCAAGAGCCCTTGGCGCAGAAGACACAGACAGGCGAGCAACGCA AGGAGAGCTCAAGAGAGACCACCCCTGCCTCCAGGCCCCCGAGTTGGACG AGCACTTGGTGG	A A	frameshift_variant others(1): Show frameshift_variant start_lost	HIGH	HG02723.hp2 HG02723.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0001 a0015c0026t0001	a0015c0026t0001g0000 a0015c0026t0001g0000	1	234	0.0043	-2011	c.-73 others(9): Show c.-735_1276del	p.Met others(3): Show p.Met1fs	USP17L20	ENSG00000250745.3	transcript	ENST00000506151.1	protein_coding	1/1		1/1593	1/530			chr4	TogoVar

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