Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BMP8B_chr1_39752182_39793865	39776350	TCCAGAAA others(1926): Show TCCAGAAAGCAGGGGTGGGAGCCGCCCAGTGCCTTCCCCAAAACCCAGCA CTGAGATTTCAATGATATGTTTGTGAGTCTTTTTAAAAATTCTCTGTGGT TACTGGGCTCAGTGACCACGGTCAGGTTTGTAAAAGCACCAGGCTGTGCG GGCCGAGGCGGATGTGGGGAGCACTTCCTGTCCTCGTGGTGGGGACCTGG TCCGGCCATGGGCAGGCGAACAGCTGTGCGGGGCAGGGGATGGGGCCAGA CGTGTGTGGGCAGGAGGAGGTGGCCGCTCATCCCAGCCCAGGGCGGAGAA GGAAAGAACGTGCCTTGTCCCACAGCACCCAAGGGTGTCTTTTGAAGTCT TACTTTTTGGTCAGAAATAATACTTTGAATTAAGTTTTTCTAAATAAATG TATTCTTTCACTCATCTAATAAGATCATCATGTTTAATTTAGAAATAAAT TTATTCAGTTCTTACTGTGTGTACAACACTGTTCTGGGCAATACAACAAT AAACAAGATACTTTTTCCACACACAGGGAGTTTACGGTCCAACGGAAGAC ATAAAATGCAAACAAAAAGCAACTAAAATATGGGATGTCATTTCTATTGT TCTACTGTAAATGCTATGAAGGAAACAGAAAAGGTTATGGGCTCAAGAGT AATGGGTGCTTTTCATAGGGTGCTCCGTATGGCCTTTGAGAAAGAAAAAG ATTAAGATCAGACATGAACATTCTCTCAGGCGTTGCTGATAGGAATGCTG TGTAGAGGAGGAATTTAGCAATACCTAGCAAAATTACATTTGACACAAGA ATTCCAAAGATGTATTGGCAAAAATATGAAAAGACATATGCAGAGAGCAA TTCGTTGGTCACAGGAAACAGACCAAGCTATACCTGGTTCCATAAGCACC TCTAAATATTTATTTTCTACAAAATCATAAAAGCTGCCCCAAATGGTCTC ACGCTGAACCAGCTTCTGTCTGGGGAAGCAGCAAATGAATTTGCTTTCTA AACCACCTTAATGTGGCTCCTGGGAAAATAAACAATCATGAATCACCAAC CTGTGCTGATGGAAACCCTCAGCCTCCTCCTCCAGCCTTGGATAAAGCAA ACTTCGGAAGCAACCCCACGCTTCCAGGAAAGGCCCTGTGGGCAGAAGTT GGCTTCCGCTGGCCACATCTGGGGCCCTGTGCCTGCCACTCCAGGCTAGG CTTCCAGATGCCAAACTCTGCGACCCTCAGCCCAACATCAACAAGGGCTC TGGCTATTTTTGTGCTCTGGGCAATTTAGTCTCACCCAGACAACCTAAAT CTGTCTTATTTCTGACCAAAAAGTGGGACTTCAAAAGACACCCTCATCCT CCAGCTCAGAGCAGAATCTTGTGGCCTGTGACCCATCCCACCTCCCCTCA GACCCTCCCCAGCCCTGAAAGGCCCACAGGAAGAGTGTCCCAGGGCCCTC CCTTCGCTGGCCCTGCCATCTGTCCCTCCGGCCTCTTGTGCCTTCTACCT GCAGACGCCTCCCGCAGAGTCCCTCCTGGAAGCTGCTCTCCCCGGGTGGC CCCGTCCCTCTCAGTCCGACTGAGAAGGCTCCCAGTCCTCAGACCCCAGG CAGGTCAGGCTTTCAGCCTCTCCCGGCCCCCATGCCAGGGCTTGCTGTCT CTGGTTCAGCTGTTCCTCTGGACAGCGAGCCCTTGGAGGGCCGGGACGGA GCCACGTGGGTGGACATGGGAGGCTCGCACGTCAACTCATCGGCCCCTGT GTTTCGGGGCCCCAGAGCGGGGGTGCCCCGGCCCCTTCTTCCCAAGGGTC TCTTGTCCCCAGGACAGCGGCTCAGTGTCCGGAACTCAGAGCCCTTTGGG CTGGGTATCACTGCCAGTCTGGGTGTGGCTACCATGTCCCCATGTGACTC CATCAGAAGCCACCGACATTCCCGTTGCTGTGGA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp1 NA18946.hp1 HG02135.hp1 HG02523.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0103 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0103	3	428	0.0070	-1933	c.335 others(17): Show c.335-3245_335-1313del	BMP8B	ENSG00000116985.12	transcript	ENST00000372827.8	protein_coding	1/6			chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1903428	GAAGCACT others(1926): Show GAAGCACTGTTCCAGGCAGCGAGGATGCAGTGGGCTACTGAAGACGCTCT TGCGGAACTCAAGATTGATCAAGCACTGTTCCAGGCAGCGAGGACGCAGT GGCCTATGGAAGACGCTCTTGCAGAATTCATGATTGATGAAGCACTGTTC CAGGCAGCGAGCACGCAGTGGCCTATTGAAGAAGCTCTTGCAGAACTCAT GATTGATGAAGCACTGTTCCAGGCAGTGAGGACGCAGTGGCCTATGGAAG ACGCTCTTGCGGAACTCATGATTGATGAAGCACTGCTCCAGGCAGCAAGG ATGCAGTGGCCTATGGAAGACGCTCTTGCAGAATTCATGATTGATGAAGC ACTGTTCCAGGCAGTGAGGACACAGTGGCCTATGAAAGATGCTCTTGCAG AACTCATAATTGATCAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCT ATGGAAGATGCTCTTGCGGAACTCATGATTGATCAAGCACTGTTCCAGGC AGCGAGGACGCAGTGGCCTACGGAAGACACTCTTGCGGAACTCATGATTG ATGAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTATGGAAGACGTT CTTGTGGAACTCATGATTGATGAAGCACTGTTCCAGGCAGCGAGGATGCA GTGGCCTACTGAAGACGCTCTTGCGGAACTCAAGATTGATCAAGCACTGT TCCAGGCAGCGAGGACGCAGTGGCCTATGGAAGACGCTCTTGCAGAATTC ATGATTAATGAAGCACTGTTCCAGGCAGCGAGCACGCAGTGGCCTATTGA AGAAGCTCTTGCGGAACTCATGATTGATGAAGCACTGTTCCAGGCAGTGA GGACGCAGTGGCCTATGGAAGACGCTCTTGCGGAACTCATGATTGATGAA GCACTGCTCCAGGCAGCAAGGATGCAGTGGCCTATGGAAGACGCTCTTGC AGAATTCATGATTGATGAAGCACTGTTCCAGGCAGTGAGGACACAGTGGC CTATGAAAGATGCTCTTGCGGAACTCATAATTGATCAAGCACTGTTCCAG GCAGCGAGGACGCAGTGGCCTATGGAAGATGCTCTTGCGGAACTCATGAT TGATCAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTACGGAAGACG CTCTTGCAGAATTCATGATTAATGAAGCATTGTTCCAGGCAGCGAGGATG CAGTGGCCTATGGAAGACGCTCTTGCGGAATTCATGATTAATGAAGCACT GTTCCAGGCAGCGAGGACGCAGTGGCCTATGGAAGACGCTCTTGCGGAAC TCATGATTGATCAATCACTGTTCCAGGCAGCAAGCACGCAGTGGCCTATT GAAGACGCTCCTGCGGAACTCATGATTGATCAAGCACTGTTCCAGGCAAG CGAGGACGCAGTGGCCTATGGAAGACGCTCTTGCAGAACTCATGATTGAT GAAGCACTGTTCCAGGCAGCAAGGATGCAGTCGCCTATGGAAGACGTTCT TGTGGAACTCATGATTGATGAAGCACTATTCCAGGCAGCAAGGACACAGT GGCCTACGGAAGACGCTCTTGAGGAACTCATGATTGATAAAGCACTGTTC CAGGCAGCAAGGATGCAGTGGCCTATGGAAGACGTTCTTGTGGAACTCAT GATTGATGAAGCACTGTTCCAGGCAGCGAGGACGCAGTGGCCTACGGAAG ACGCTCTCGCGGAATTCATGATTGATGAAGCACTGTTCCAGGCAGTGAGG ACGCAGTGGCCTACGGAAGACGCTCTTGCGGAATTCATGATTGATGAAGC ACTGTTCCAGGCAGCGAGGACGCAGTGGCCTACGGAAGACGCTCTTGCGG AACTCATGATTGATAAAGCACTGTTCCAGGCAGCAAGGATGCAGTGGCCT ATGGAAGACGTTCTTGTGGAACTCATGATTGATA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	262	0.0076	-1933	c.180 others(19): Show c.1808-6971_1808-5039del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MYOZ2_chr4_119130832_119192789	119137926	CTTAAAAT others(1926): Show CTTAAAATAGACCTTTCATGTTATTATTTTCTAATGACATCCTAATCATA AAACAGTCAGTCCATTTAATGTATTCTAGCCTAAATCATGTGTTGGAATC TACTGTTAGCTCTGACATAGATCTATAAGGGTAAGAAGTTTTTTTTCCTT TTTTTTATAAACATAACTATTGTTTTTATAAAAAATATGTGGGAGAAAAC ACACAATTATATATCAAAGTGGGGGAAACCCTCAAAACCACTATCTCACC ACCAGTAAATCCTAGCCACGTAAAGTCAGCTGAAGCCCTCCCTCCCATGT CACTGGATGAGTACCAGCTCCCTTAAGAGGAGTCACATGCTCTGTCTTTG TTGGAATGTCAAGTATTTCAGATAACATGGGGATAATCAGACTCTTTCCA AGCTCATCCCAGATGAAATAACTTCAGTACTTTATGAAACCGCTCAAATA TTTTTCTTCTCTTATTTCCTCTGACATTTTATATGGAACTTTACTATTTG TGTATAGCATGATGTTTAGAGATCTGGAGCTAGGGGAGTATAATTTTTTC TCAGGATGCATAATAAAATGGACTTCAGAGAAACTTTTTTGGGAATGATC CTCCAAACTTTCAAACATTTTACAGGAGTAAAAATCTGGATAATTTAAGA TAAAACATGCAACTGCTTTGATCTTAATTGTAAGACTAAATAAATCAAAT TTTGCCTGGATTGTCCTTTATAAAGATAAATTGAAAAGGATGTTCCAGTC GAAATCCCCTTCTCCTGCCTTCTCTCCTTTCCCCTTGTGCATCAGAATTT TTTTTCAGCCTCATAACTCATTTAATTTTTATTACTACTTACCAAAACAT TTAGCTTGGAGGAGTATAAAATGTGACAATGAGTTGGCTAAATCACTTGT TGTCCTCTTAACATGAGGTGGAAATTCAATCCCATTCTTGTAGGGGAAAG AGATTGCAGCCGGTGAGTCTTTGAGATAAATCACTAGAAAAATATAAGAA CCAGAAATGGGGAGTTTTACATCAGAGCCCTCATTCCATCAGGAGTGATA ACCTCAAAGAATTATTAAAAAATTCTCTTCATATAGATTATAATGCTAAC TGCATAGAATGAGTGAGAGGTGGATAACTCCCAGCCTCCACTAATCACAA CCCCAAATTGTTGCTCATTTTGAATCCATTGTGATTTGGTTTCAAATTAT GTACTAGAAGCAAATATACTACACTCCCAACAATTGACTAATAAAAAGCA TCCCAAACATGCAGGCTGCCTGCTTTTAGATTTACCTTCCTCATTATATC ATAGTTATGATTACCATCATCATCACCTTGGCCGGAAGCAGAGCTAATGG TAAAGCTGTCCTGGTTACTCTTGTGAGACAAACCTCTGTGCTTTATATAA AAGTATCTCAGCCACAGTTGTTACCATCTAACAAGTGCTATTGTAAAAGA CAAAAGATAATTTGCCATTATCTATGCATGAATTAGTTGTGGAGACAAGA AAAGATGGCCTCTGATAGTCCCCACCCATGAGCCTTGTGCAATTTACCCC TAAATCTGTACATATTTTCCAGTATTAATCATATTTTTCTCTTGTTCAGT ATCTCATGTGAAACTTGAAGACTGAATGAAGAGAGAGAGGTAGGAAAGGA TAAAAGGATAGGAAGTATTAAACTGATAAAGAGATGGGGCAATCAGAATG AAATAAGGAGAGGCACTCTAGAGAAACTGGCATCTGTTTAGAAATGCTGG GGGAAAGGAATTGGAATTTTAAAAACCATAAGAAGAACTGGGAGTATGAT GTTCCCTGACTTTAAGCATGGATATTGCTGACAGTTTAGAATAAGAGCTT CATAAATAGAGAAGACCACAGTGCCTCCTAAGTAAGCTTCAGTCACCCTA CAGTCCTCTCACCTGGGTTCCAGGAGGGCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	392	0.0026	-1933	c.76+ others(15): Show c.76+1328_76+3260del	MYOZ2	ENSG00000172399.6	transcript	ENST00000307128.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
NELL2_chr12_44503278_44881315	44879382	CTACATGA others(1926): Show CTACATGAGGAAAAGTTCAGTAAACATGGTTGACTCTAACGACCCTTAGA TCCCTTCCTACCATATACACATATCAAAGCTAAGTAAAATGCCCAATTTT TAAATTCACAGATGAGCTTTAAATTAAGAAAAGAAAATCCCCAGGTGCTA GAAAAAAGACATAGCAGAAGATGGACAGAGAAAGCAATAGGTGGTGCAAG AATTTGGAGAGGGTGGAACACAGGGATTCAGACTCTATCGGGACCCTAAG AAAATAGAGTGGGATTTTAACATCCACACCAGAACTGAAAACAACAAATT TTGGAAGCCAGAAAAGATGATGATATTACTGATTCTTCTGATAAGAGTAG TAAGCTTTGAAGAATTATATCTCCTACAAAAAGAAACTTTTGAAACTTTA AAACTTTGCATGTTGGCCGAAGCTTGCCAGCTGCACGTGCCCTTGTGGAA AACCAATGCACCTATACTAAATGTCAAATCTCAAGCTTTGCCACTTGCAG GTACAAGGTCCGAGATCACACTCCTCACTGATATGGAAATTCTAAAATCA AAAAGTAGCATTAAACTCCCAGGGTCTTCTGAAGAAGCAAATATAAGACT TCTTTTAAGTGACTTTCTATGACTTCTGGTACACAAGAAGAAAATTCCTG CTGTGCAATAATAATAATAATAATTGTCATTGTTATTACTATTACACTGA GATAAAAGACTATGAAAAATAGTCAAGAAACATACACACACACACACACA CACACACACAGAGAGAGAGAGAGAGAAAAACAGAGAATTAGTATCTCATG ACCTCAGGATATCAAAAAATAAAGTGACAGAAAACATAAAATAAGAATGT TTAAGTGATTGGAGATATTTTTAAAGGGATATAAAAGAAATGAAATGACA GAATTGTATGAGAAAAGAGTAGACATATCTCAAAAGAAACCAAATAGAAC TTCTAGCAATAAAAGTATGTTTAAAAACAATATTAAAAACCATTAGCTCT AATAAGCAGCAATAAAACAGTGCTAAAAATTAGTGACCAAAAACATTGAA AACAAAAAGTCAGATGTGAGAATATTACTGAGAATGTGCCAAGACCGATA AAAAGAATGGAAAACATAAACAAAACATGAATGTTACAGTTAAAATAACC AACACACAACTAGTTAGAGATGTGGAATAACAGACTAGAAAGAATAGAAG TATATAGTATTATACATAACATTTAAACAAATAACATTTAAAAGTTTTCA AAAATTAAAGAATATCATGAGGCTCTAACTCTGGGTAAAATGGATTAAGT ACACTTTACCATTTCTCCCACTGAATGCCATCAAAATTCAACAGAATGTA TAAAGTATTTGAGGACTCTGAAAATTACATGGTATCAAGCAAACTAGGAA AGAAAACCAGAGTTTGAAGTACTACCATACTGGCAGTGAGTTCTTTGTTT TGTTCTTGTTGTTGTTGTTGTTGTTGTTGTTGTTGTTTTTGGCTAGTCAA CTGAAGCAGTAGGAGTGGAAAATGAACAAATAAATCTGTAATTGGTTGTG ACCAATTAGTTGTAAGCACCACTGCACTCAGACCAGCCAGGCAATGATTA CCAGCCAGGTAGTGGTCTAAGAAATAGACCATTACCCAGGTCACAGGCTG GCCTCTGTGTTGCACAGTTGCATACTACAAAGTCTTAAAACCACACAAAA GGAAGACAAGTCAAAATCTTCTGTCTAAATTCTAAAGAGTCAATCGCCTG CTTAAATTTCTAAAAATCCAACATTCACCACAGTACTTAACAAAATTCAG AGTTTTATAACTTAATATTAAAATATTTAGGTTATAATAAAAAATTATTT GGCATATGGAGAACTAGAAAAACTTCAACTTAAATAAGAAAAATATAATC AACAGATACCAATGCCAAGATGACACAGATGTTG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG03486.hp1 HG01167.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0126 a0001c0001t0002g0127 a0001c0001t0001g0126 a0001c0001t0002g0127	2	156	0.0128	-1933	c.-54 others(11): Show c.-5446_-3514del	NELL2	ENSG00000184613.11	transcript	ENST00000429094.7	protein_coding		3068		chr12	TogoVar
PCGF3_chr4_700832_775089	745099	CCCCGGGG others(1926): Show CCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTG GGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGG CGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCC GTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGT GCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAG TGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTC GCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCC CGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGC GGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCA GGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGC GTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCG TGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTG CTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGT GTTAGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCG CTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCG GGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCG GGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAG GTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCG TGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCTCCGT GGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGC TCCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGT TAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCT GCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGG GGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGG GCCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGG TGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGT GAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTA GTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGC AGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGG TCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC CCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGG GCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTGAG CAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGA GGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCG CCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTTAG TGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGG	C C	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0204 a0001c0001t0041g0204	1	359	0.0028	-1933	c.462 others(16): Show c.462+419_462+2351del	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
RNF2_chr1_185040558_185107603	185040669	ACACATCT others(1925): Show ACACATCTAAAAGATGGCAAATAAAGATTTTGGTAGAGGATATATTTCAA CAATAGTATCTATACATAGTGGTTAAATCCCAAGCTCCTCCAGTCTTCTA GCTTACCTTTTACTTTTATTTTTGCTTTTTCTCTAAAAGTAAGTTTTCTA AGAAGATAAAACCATCACCTGCTAGTTTCCTATTAATGTATCAGCTTCTT GAAAATCATCTTGGCTGGGCATGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCTGAGGCGGGCAGATCACTTGAGGTCAGGAATTCAAGACCAA CCTGGCCAACATGGTGAAACCCCGCTTCTACTGAAAATATAAAAATTACC CAGGTGTGGTGGCACATGCCTGTAATCTCAGCTATTCGGGAGGCTGAGAA AGCAGAATCGCTTGAACCGGGGAGGCAGAAGTTGCAGTGAGCTGAGATTG CGCCATTGCACTCCAGCCTGGGCGTCAAGAGTGAAAGTCTGTCACAAAAA AAAAAAAAAAAGAAAAAAAAAAAAAGAAAATCATCTCTAGCTTCTTGAAA AAATACTACACTGAGGATTGGGATAAATGATAATGTTGAGAGGAAACTCC AGAGATGTTTGACTCATATACCACTTACTAGAAAGAAGAAAGATACTGCA GTTGTGTATGCAGCACAGAGTGGCAAGGCAGATGTGGCAGAATGGAATAT ATCTGGCACTTGGAGTCAAATGACCAAGGTCTGAGCCTCAGCTCTGCCAC TTACTAACTCAATGTTTGGGAGAGTTATTGAGCTGCAGAAGTCACATTCC TGTCCTCCATAAAGTAGGAATAATACCTTGGAAAACTGTTCTGAAAATTC ATGAAATAACAGATCTAAAGTTTCTTTATAAACTGTGATGCATACATAGC TTAGCATTAACAGGTGATTGGTGGCCTGCAGTCTTCATCTCAGATGAGCT GATAACCATTAAATACTTCAAGCATGACTGAAAATAAATGTATATGGTAG AGATAGAATAGGCAAGTGTGAATTTCCATTTAAGACACACTGCCTAAGCA GAGAAAGCCTCTGGAGAGACTAAACAAACTCTTGACAGAAACGTCCTCTG TTAAGTAATGAAAGTGAAGCAAACCAAGCTCATATGTGCTATTCTATTTC ATATACACACTGGAGTCAAAGAATCCCATTCTTTCATTCTCTTAACACCT ATTTATTGAGCATCTACTAAGTGCCAGCACTGTGCTAGTCTCTAGGTATC TGCTGGTGAACAAGATTTTTGCTTTCAAGGAACTCATATCCTAGTTATAT TAATGTTTTTATTCCAAGTACTTAACAAAGTGCTTGGCACATACTAGATG CTCAATAAAAGCTGGTTGAACTAAACTAGTTTTAATTTTGTAGCCTGACT ATAGCAGAATACCAGTTAAGAGGTGATTTTTTCTTTCATTTTTTTTTTTT TTGGATATGGAGTCTGGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGA TCTCAGCTCACTGCAACCTCAGCCTCCCAGGTTCAAGCAATTTTCCTGCC TCAGCCTTCCGAGTAGCTGGGATTACAGGCGCCTGCCACTACACCCGGCT AATTTTTGTATTTTTAGTAGAGACGGAGTTTTGCCATGTTAGCCAGGCTG GTCTCAAACTCCTGACCTCAGGTGATCCACCGGCCTCGGCCTCCCAAAGT GCTGGGATAACAGGCCTGGGCCGCCATGCCCAGCCAAGAGGTGATTTTTA TGATCACTTAGAGATACCTACCCAATTCATCATGTAGTTAACCTGATACT ACTTCTGAAGTGTTAAAGGAAGACAATTTTTTTTTAACTAGAATTCATCT AGTCATCACCCATAATATACTTCTATTATGTAGTGTTAATTTAATGTTCC TCTACTTAAAATACAAATATCACTTCCAATTAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG01255.hp1 others(43): Show HG00438.hp2 HG00733.hp2 HG01255.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02451.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp2 HG03688.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp2 NA18941.hp2 NA18954.hp1 NA18960.hp2 NA18962.hp1 NA18965.hp1 NA18967.hp1 NA18970.hp2 NA18973.hp2 NA18983.hp1 NA19006.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19066.hp2 NA19080.hp1 NA19081.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0019 a0001c0001t0029	a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 others(41): Show a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0059 a0001c0001t0002g0288 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0313 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0326 a0001c0001t0003g0146 a0001c0001t0005g0011 a0001c0001t0005g0060 a0001c0001t0005g0290 a0001c0001t0005g0293 a0001c0001t0005g0306 a0001c0001t0005g0311 a0001c0001t0005g0316 a0001c0001t0005g0318 a0001c0001t0005g0319 a0001c0001t0005g0323 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0009g0077 a0001c0001t0011g0294 a0001c0001t0011g0295 a0001c0001t0011g0296 a0001c0001t0011g0297 a0001c0001t0011g0300 a0001c0001t0011g0301 a0001c0001t0011g0315 a0001c0001t0019g0317 a0001c0001t0019g0327 a0001c0001t0029g0292	46	348	0.1322	-1932	c.-49 others(11): Show c.-4982_-3051del	RNF2	ENSG00000121481.11	transcript	ENST00000367510.8	protein_coding		4888		chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	38186765	TGGATCAC others(1925): Show TGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAA ACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGTCGCATGC CTGTAATCTGTTCCACATCCCATGTACAGCTACTCGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCGGAGGTTGTGGTGAGCCAAGATCGTG CCATTACACTCCAGCCTGGGCAACAAGAGCTAAACTCTGTCTCAAAAAAA AAAAAAAAAAAAAATCACAACCAGATGCAGTGTCTCACATCTGTAATCCC AGCACTCTGGAAGGCCGAGGCGGGGGAATTACTTGAGGCTGGGAGTTGGA AGCCAGCCTGGGCAACAACATAGTGAGGTCCCACCTGCATAAAAAAATTT TTTTCAGCCAGGCGTGGTAGCTCACGCCTATAATCCCAGCACTTTGGGAG TCCAGGATGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCC AACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGT GGTGGCAGGCACCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAA TCGCTAGAACCTGGGAGGCAGAGGTTGCAGTGAGACAAGATTGTGCCACT GCACTACAGCCTGGGCAACAAGAGTGAAACTCTTTCTCAAAAAAAAGACA AAAGGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCG AGTCCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAG CCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAGACAAAAGGAAAAAAAAACTTTTTTCA AGGCGAGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGACCAACA TAGTGAAACCCCGTCTCTACGAAAATACAAAAATTAGCCGAGTATGATGG CAGGTGCCTGTAGTCTCAGCTATTGGGAGGCTGAGGCAGGAGAATCACTT GTACCCAGGAAGCGGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCAGTC TAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAATTGCAT ATATAAAATATTAACTTAGAATTATTATTTTTGTTCATACATTCCCCTTG TATGTGCTGTAGCTCACTGAGCATTTTGGAGACAGTGTCTTTGTTATCGT GAGAGGCACTTTTGAGTCACTTCACTTCTAACTCAATTATTTTAGATTAA ACATGTTTTGTTGTTGTGGTGGTGGTGGTGGTGGTGGTGGTGACAGGGTT TCACTCTGTTGCCCAAGCTGGAGCACAGTGGCATGATCACAGCTCACTGC AGCCTCTGCCTCCTGGTACAAGTGATTCTCGTGCCTCAGCCTCCCGAGTA GCTGGGACTATAGGTGCCCGCCAGCATGCCCGGCTAATTTTTGTATTTTT AGTAGAGAAGGGGTTTTACCATGTTGGCCAGTCTGGTCTCGAACTCCTGA CCTCAAGTGTTCCACCTGCCTTGGCCTCCAAAGTGCTGGGATTACAGGCG TGAACCACCATGCCAGGCCCAAAATTTAGACAACAGAGGCAACTCAGAGA TGATGTCCAGTCCTGTCAGTCAGAACCTGGAGGATGTTTTCTTCACTGAG GTTTTGAAAGATAAAACATGCACAAGGTAAAAAATAAAATACTACAAAAG GGTTTGCAATAGAAAGTAAGCCTCTCGGCCAGGCGCGGTGGCGCATGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG01891.hp1 HG02922.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0005 a0002c0002 a0003c0005	a0002c0002t0003 a0003c0005t0003 a0002c0002t0003 a0003c0005t0003	a0002c0002t0003g0086 a0003c0005t0003g0109 a0002c0002t0003g0086 a0003c0005t0003g0109	2	162	0.0123	-1932	c.443 others(19): Show c.4430+4033_4431-3441del	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
RIMBP2_chr12_130391133_130721299	130647391	AGCAGCTT others(1924): Show AGCAGCTTAAAACAACAGCCAAGGGAGTTAGAGTCAGGAGATGTTTGCTT CCCTATAGAAGCTAAAGCATCATCACATCTGTCTCTGGGTTGTTTTTCAG AAACCCAGACCCCCACCAAAATGGATTCACCTGCACCTAGACCTCAGCTA CGGAGAGCGGAGGACTGAGCTCTGAGCACCAGTCTTTGTTCTAAATTTCT TCCTGAGGGGCCTGGAGGAGGTCACACCCATGAGCCAGAGCTAACATTCT TTTCTGCTGACCCTAAATTTTTACACAAAGTTTCTCCTCCTAACCAACTA CAAATCAGAAAATCTTTGCATATACCTACAATTTGTAAGCCCCTGCATCC AGAGATCCCACCCTTTAAATCAAACCAATGCATAACCTCCATGTATTGGT GTGTGACTTTGCTGGTAACCTCTACCTCTCTGCCTTTAAAGACCCTCCCC TTTAAGCCATCTGGCAGTCCGGGTCTTCCACATAAGGTTCTCCCCGCTAG ACGCCCTGCACTAAATGCCTCTCTTTCTCATGCTGCAAACCTCGGTGTGG CTGTTTGGCCCGACTGCAGTGGGTGAGTTGGACCCCAGCTCCGTTGGATA ACACATGCACACACGTGTGCACACACATGTGAACACACGTGTGTACACAC CCGCCTCACGTGGTACAGAAAGCCAAAGGGCATGTCAGGAGTCACGCGCT GATCATCACCGAGCAGATACATCCCTAGATTATGAGTTCCTAAACTTTTA CACATCTTTCTTTTCTAAATTTTCAACAGTAAATACTAAAGATGAAAAAA TGTTTCTCACAGCTGTCAAGGGAAAAGGGGAAATCCCATTTCGTGCGCCA CTAATGGAAGAGGAAACAGACACGAACTCTCACTTCTCAAATGCCCTAAA AACATGGTTTTTTGACCCAGAAATTCCACCTTCATAAATTTATTTAAAGG ATCATAATGGACAGGACTGAATCATCTTATCTTTTAGAATTACACACATA AGGTATTCATTGTAAAAAAAATTGAAAAGCATAAAGGAGAAAATAAAAAC TTCGTAATATCCCCTTAAAATACATTCCATCTGTATGCGTCTTCTAAATC CCCCAGCAAAATCAAATTCAAGCTATATACATCTGATGTTATCCATGATG ATTTTAATGAGGTATGTGTTTTTCTAAATTATTTTCTGTGCTTTAAAATT TTTTCTACAATAAATATATGTTACTCCATTAATCATAATCAAGTTAAAAA CTATCTAAAATTAGTATCTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTC TTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACCGCAACCT CCGCCTCCCGGGTTCAAGCGATTCTCGCTCCTCAGCCTCCCGAGTAGCTG GGATTACAGGCCTGCACCACCACGCCCAGCTAATTTTGTATTTTTAGTAG GGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCA GGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGTGAG CCGCCGAGAAACGGATCGCACATGGTAATTTTTGCAGCACCACGGGTTAA ATACTGTGGGCCCTGAACACCATTTTCATGTGGATTCCATGATCCTCAAT GACCTCCTGACTCAGAGGCACGGGAGCAGATCTCCCGGCTTTTCCTGCCC TTCGTGGCGGCCGATAGGCTCAGTCGGAGGTGGGTATGGAGGTGGGTACG GAGGTGGCAGGAGGAAGCTATGGACAAGAGAGCAACCGGAGGGACAGAAC CGTGCCAAGCGCGTGTGTGACTGCAAAGCCAGCCTCTAGGCCAAGTAAGG CGCTGGAATGTGGGGCTTGCTGCGACGTACGTTTCTCTCCTCCTCAGCGG AGAGATGAGTGCTCCCGGCCGGAGGCCGCTCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01074.hp1 others(19): Show HG00280.hp1 HG00642.hp1 HG01074.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp1 HG01981.hp1 HG02148.hp2 HG02451.hp1 HG02809.hp2 HG02818.hp2 HG03710.hp2 HG04228.hp2 HG06807.hp2 NA19084.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0027 a0001c0028 a0005c0015	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0027t0001 a0001c0028t0001 a0005c0015t0001	a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 others(19): Show a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0069 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0002g0031 a0001c0001t0002g0084 a0001c0001t0002g0091 a0001c0002t0001g0074 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0003t0001g0148 a0001c0004t0001g0020 a0001c0005t0001g0032 a0001c0005t0001g0111 a0001c0006t0001g0033 a0001c0006t0001g0042 a0001c0008t0001g0140 a0001c0027t0001g0057 a0001c0028t0001g0114 a0005c0015t0001g0139	22	178	0.1236	-1931	c.-35 others(21): Show c.-351-20866_-351-18936del	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
DCLK3_chr3_36707421_36769553	36722722	ATGCCATC others(1923): Show ATGCCATCCATGTAAGATGTGACTTGCTCCTCCTTGCCTTCCACCATAAT TGTGGGAAGGCCTCCCCAGCCATGTGGAACCATAGTCCATTAAACTCCTT TTTTTCCTGGTCTCAGGTATGTCTTTATCAGCAGCATGAAAATGGACTAA TACAGTAAACTGGTACCAGTAGAGTGGGGCACTGCTGGAAAGATACCCAA AAATGTGGAAGTGACTTTGGAACTTGGTAACAGGCAGAGACTGGTACAGT TTGGAGGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGTAACTTCC TAGAGACTTGTTGAATGGCTTTGCCCAAAATGCTGATAGTGATATGGACA ATAAAGTCCAGACTGAGGTGGTCTCAGATGGAAATGAGGAACTTGTTGGG AACTGGGACAAAGGTGACTCTTGCTACATTTTAGCAGAGACTGGTGGCAT TTTGCCCCTGCCCTAGAGATTTATGGAACTTTGAACTTGAGAGAGATGAT TTAGGATATCTGGTGGAAGAAATTTCTAAGCAGTAAAGCATTCAAGAGGT GACTTGGGTGCTGTTAAAGACATTCAGTTTTATAAGGGAAACAGAGCACA AAAGTTTGGAAAATTTGCAGCCTGACAATGCAATAGAAAAGAAAATCCCA TTTTCCAAGGATAAATTAAAGCCGGCTGCAGAAATTTGCCTAAGTAATGA GGACCCAAATGTTAATCCCCAAGACAATGGGGAAAATGTCTCCAGGGCAT GTCAGAGGTCTTCATGGCACCCCATCCTATCACAGGTGTAGAGACCTACA AGGAAAAAGTGGTTTTGTGGACTGGGCCCAGGATCCCCATGCTGTGTGCA GCCTAGGGACTTGGTACCCTGCCTCCCAGCCGCTCCAGCCATGGCTGAAA GGGGCAAACGTAGAGCTCGAGTTGTGGCTTCAGAGGAAGCAAGCCTTGGT CAATTCCAAGTGGTAGTGAGCCTGCCATTGCACAGAAGTCAAGAATTGGG GTTTAGGAACCTCTGCCAGATTTCAGAGGATGTATGCAAACGCCTGGATG TCCAGGCAAAAGTTTGCTGCAGGGGAGGGGTTCTCATGGAGACTCTCTGC TAGGGCAGTGCAGAAGGGAAATGTGGGGTCGGATCCCCCAAACAGAGTCC CTACTGGGGCACTGCCTAATGGAGCTGTGAGAAGAAGGCCACTGTCCTCC AGCCTTCAGAATGGTAGACCAATGACAACTTGTACCATGCACCTAGAAAA GCCACAGACTTTCAATGCCAGCCTGTGAAAGAAGCCAGGAGAGAGGCTGT ACCCTGCAAAACCACAGGAGCGGAGCTGCCCAAGACCATGGGAACCCACC TCTTGCATTAGCGTGACCTGGATGTGAGACCTGGAGTCAAAAGAGATCAT TTTGGAGCTTTAAGATTTGACTGCCCCGCTAGATTTCAGACTTTCATGGG GCCTGTGGCCCCTTTGTTTTGGCCAATTCCTCCCAGTTGAAATGGCTGTA TTTACCCAACACCTGTACCCCGACTGTATCTAGGAAGTAACTAACTTGCT TTTGATTCTACAGGCTCACAGGAGGAAGGGACTTTACTTGTCTTGGATGA GACTTTGGACTGTGGACTCTTAAGTTAATGCTGAAATGAGTTAAGACTTT GGGGAACTATTGAGAAGACATGATTGGTTTTGAAATGTGAGGACATGAGA TTTGGGAGGGGCCAGGGCAGAATGATATGGTTTGGCTGTGTCCCCACCCA AATCTCATCTTGAATTGTAACTCCCACAATTCCCACATGTTGTGGGAGGA ACCCAGTAGGAGGTAATTGAATTATGGGGGCGGGTCTTTCCTGTGCTGTT CTCATGATAGCGAATCAGTCTCACGAGATCTGACAGTTTCAAAAATGGGA GTTTGCCTGCACAAGCTCTCTATTTGCCTGC	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0243 a0001c0002t0004g0243	1	420	0.0024	-1930	c.196 others(19): Show c.1960-2993_1960-1064del	DCLK3	ENSG00000163673.8	transcript	ENST00000636136.2	protein_coding	2/4			chr3	TogoVar
DCLK3_chr3_36707421_36769553	36722769	AATTGTGG others(1923): Show AATTGTGGGAAGGCCTCCCCAGCCATGTGGAACCATAGTCCATTAAACTC CTTTTTTTCCTGGTCTCAGGTATGTCTTTATCAGCAGCATGAAAATGGAC TAATACAGTAAACTGGTACCAGTAGAGTGGGGCACTGCTGGAAAGATACC CAAAAATGTGGAAGTGACTTTGGAACTTGGTAACAGGCAGAGACTGGTAC AGTTTGGAGGGCTCAGAAGAAGACAGAAAAATGTGGGAAAGTTTGTAACT TCCTAGAGACTTGTTGAATGGCTTTGCCCAAAATGCTGATAGTGATATGG ACAATAAAGTCCAGACTGAGGTGGTCTCAGATGGAAATGAGGAACTTGTT GGGAACTGGGACAAAGGTGACTCTTGCTACATTTTAGCAGAGACTGGTGG CATTTTGCCCCTGCCCTAGAGATTTATGGAACTTTGAACTTGAGAGAGAT GATTTAGGATATCTGGTGGAAGAAATTTCTAAGCAGTAAAGCATTCAAGA GGTGACTTGGGTGCTGTTAAAGACATTCAGTTTTATAAGGGAAACAGAGC ACAAAAGTTTGGAAAATTTGCAGCCTGACAATGCAATAGAAAAGAAAATC CCATTTTCCAAGGATAAATTAAAGCCGGCTGCAGAAATTTGCCTAAGTAA TGAGGACCCAAATGTTAATCCCCAAGACAATGGGGAAAATGTCTCCAGGG CATGTCAGAGGTCTTCATGGCACCCCATCCTATCACAGGTGTAGAGACCT ACAAGGAAAAAGTGGTTTTGTGGACTGGGCCCAGGATCCCCATGCTGTGT GCAGCCTAGGGACTTGGTACCCTGCCTCCCAGCCGCTCCAGCCATGGCTG AAAGGGGCAAACGTAGAGCTCGAGTTGTGGCTTCAGAGGAAGCAAGCCTT GGTCAATTCCAAGTGGTAGTGAGCCTGCCATTGCACAGAAGTCAAGAATT GGGGTTTAGGAACCTCTGCCAGATTTCAGAGGATGTATGCAAACGCCTGG ATGTCCAGGCAAAAGTTTGCTGCAGGGGAGGGGTTCTCATGGAGACTCTC TGCTAGGGCAGTGCAGAAGGGAAATGTGGGGTCGGATCCCCCAAACAGAG TCCCTACTGGGGCACTGCCTAATGGAGCTGTGAGAAGAAGGCCACTGTCC TCCAGCCTTCAGAATGGTAGACCAATGACAACTTGTACCATGCACCTAGA AAAGCCACAGACTTTCAATGCCAGCCTGTGAAAGAAGCCAGGAGAGAGGC TGTACCCTGCAAAACCACAGGAGCGGAGCTGCCCAAGACCATGGGAACCC ACCTCTTGCATTAGCGTGACCTGGATGTGAGACCTGGAGTCAAAAGAGAT CATTTTGGAGCTTTAAGATTTGACTGCCCCGCTAGATTTCAGACTTTCAT GGGGCCTGTGGCCCCTTTGTTTTGGCCAATTCCTCCCAGTTGAAATGGCT GTATTTACCCAACACCTGTACCCCGACTGTATCTAGGAAGTAACTAACTT GCTTTTGATTCTACAGGCTCACAGGAGGAAGGGACTTTACTTGTCTTGGA TGAGACTTTGGACTGTGGACTCTTAAGTTAATGCTGAAATGAGTTAAGAC TTTGGGGAACTATTGAGAAGACATGATTGGTTTTGAAATGTGAGGACATG AGATTTGGGAGGGGCCAGGGCAGAATGATATGGTTTGGCTGTGTCCCCAC CCAAATCTCATCTTGAATTGTAACTCCCACAATTCCCACATGTTGTGGGA GGAACCCAGTAGGAGGTAATTGAATTATGGGGGCGGGTCTTTCCTGTGCT GTTCTCATGATAGCGAATCAGTCTCACGAGATCTGACAGTTTCAAAAATG GGAGTTTGCCTGCACAAGCTCTCTATTTGCCTGCTGCCATCCATGTAAGA TATGACTTGCTCCTCCTTGCCTTCCACCATG	A A	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	420	0.0024	-1930	c.196 others(19): Show c.1960-3040_1960-1111del	DCLK3	ENSG00000163673.8	transcript	ENST00000636136.2	protein_coding	2/4			chr3	TogoVar
PARN_chr16_14430701_14635260	14518591	GAAACAGA others(1923): Show GAAACAGAAGAATATAAATATGTATACTTATGTTTTTATGTTAAGAAAAA CAATGGAAGGATGAAGCAAAACAAAAATTACTTTTAAATAGTTACTCATT AAGGTGGGGAGAGAACAGGATGGAGGAGACAGGAATTAAAATCTAGACTT TTTTCAATATAGTACACCTTGTCTTTTAAATTTGACTTTGGAACTACGAC AATATTTTAAATAATTACAGAACAGTTATATTTTTAAAAGTGATCTCTAA GAAATGAAAATAAAAGAAAACAAATGAACCCAATGTCTCCAACTGGGGGC ATAAGCTCACAGACAGGGAATGTTCCAGAAGCTATCAGACTGTGCACCCC TAGAGATACACTAAGGTGGAAAGAACTGCAAAAGACAAATCTTAAGCCAT CCTCGATTATTAAATCGGTGGCGAATGCACTGGTTTTGTTATTCTGAGGC TGTGGGGTGTGTACCATGGGATAAAGCAACTGAATGATTATATGATATTC TATTTCTACCATCTCCAGTGTCATTGAGAACCAGGATTCTTGCTATGAGA GAAAGAACGTATATATTTAGGACAAAAAAGATTAAGTAGAAAACCTATAG TCCTGATGTTGTATCAGAAATATCAGTTTGAACTCATGATGTATTTTCAT CTGAAAGAAAAGAGAGGGGCATGGAGGGGAGGGGAGAGGAGAGAGGAAGG GAGGGGAGGGGAGGGAAGGGAAGGGGAGGGGAGGGGACGTGAGTGGAGGG TGGAGGGGAGGGGAGGGGAGGGGAGGAAGAACATTTTCTGAGCTCTGTCT GTTGTAAAGCTCAGAAACAATAACCAACCCAGTACAATGAGCACTCTAGC ACCCAGAATGAGGTCTCGAAATGCCATTTTCCTTGAAAGGAACCAGAGCT CTTTGTAGAAGTGCTGATTCCAGGTCTGGGGAAGTGAATGTACAAGATGA GCCTGGAACATCTTGTCATCTCAGAGGGCCAGTCAAAAGAATTCATCGGC CAACCTCAAGAGGTTCTGATTTGCAACACTGGGAGAACTGGAGCATTAGT AAGGGTCAAAACTGTGACTGACTAAATCATATTATAGATTTCTCTATGTC ATTATGTCCATAAGTCCATGATGATACTAAAACAAACTAACTGGCCACTA CTGTCCATTTTTAGGCAAGAATCAAACATAAATTCTGCTTTTCCTATACC AATTGCCAACCACATAGCAGACAAGTAAAAGTTTCTCTTTATAGATATAT TCCAACTAATAAAAGAAAAAGGCATGCTAGAATTACAGTATCACCATATT GCAGTCTCTAATGAAATAATGGATCTAGGTTAAGCATTAACACAGCCAAT AAATCACACACAAAAAGAGAGATACTAGATACTAGATGTGCTTCCTGATG GAAGAACACATCACCACCTGTGAAGCAGTCTTGCAGCCTCAAAACATCAG TTCTTATTCTGATCAAGCTTCTAGCTTTAACAACAAGCTTATATGAAAAA GGAGGACAAAAGAATATATAAAACAACATGAGAGGTGGGGAGTGGATACA ATCAGTAAAGTTCAGACTGTAAGAAATGCTACAGGACGAATAACCTTGCT TCTTCAACAAACGAGGGGGTGAGGGCAGAAGAGAGACACACTGATAGATT AAGAGACACCACAGACATTTCAACAACCACCATGTGTGGCCCTTATATGA ATCTTGACTTCAGTGGAAAAAGATAAACTCATGACATTTGTGAGATAACT TGAAATTTTAACAGTCTATCAATAGTTTATCATTTTAAGATATTAATGAT TTATTTTTTAGGAGCAATACTAATATTGTACCTATGTTTAAAAAAATAAT CTGTGGGCCAGGCATGGTGGCTCATGCCTGTAATCTCAGCACTTTGGGAG GCCAAGGTGGACTGTTTGAGCTTAGGAGTAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	168	0.0060	-1930	c.148 others(21): Show c.1480+31500_1480+33429del	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
BRSK2_chr11_1384934_1467689	1429541	CGTCTTCT others(1922): Show CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTT TTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTT TGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAG TGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGA GCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCG TCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCT TCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCT GCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCG GTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCT GGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGT CAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAG GTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGGGGTCTGGTCAGG TTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTT TGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGC CACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCAC TGTGCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGT GCTCAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCT CAGCAGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAG CAGTGAGCGTCTTCTGCGGGGTCTGGTCAGGTTTTGCCACTGTGCCCAGC AGTGAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGT GAGCGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAG CGTCTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGT CTTCTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTT CTGCGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTG CGGTCTGGTCAGGTTTTGCCACTGTGCTCAGCAGTGAGCGTCTTCTGCGG TCTGGTCAGGTTTTGCCACTGTGCCCAGCA	C C	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0149 a0001c0003t0001g0149	1	358	0.0028	-1929	c.92- others(15): Show c.92-6496_92-4568del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
IMMP2L_chr7_110657644_111567492	111425275	ACCATGAG others(1922): Show ACCATGAGAGGACTTTCTGGGATGATGTTAATGTTCTGTATCTTGATAGA GATTAGGGTTACACAACATAGGCATATGTTAAAACTAGCAAATGTTCACT TAAGATTTATATACACTATTGTATTTAAATTTTACCTCAAAAGAAAAAAA AACTGTAAACTATTCTTGAACTCTAGTTAACAATACGCATGTTGAAAGTA TTTAGGGGGAAGTGCCTATAGTTTACTTTGAAATGCATTATAAATAAATA AGATGGACTGATGGATGAATAGAGGGATTAAAATATAGATAGATAAGATA ACAGAAAAGTGATAAGATATGAGTGGTGAGTATACTGGTGTTCACTGTAA TTGTCTTTTGACTTCTCTGTATGTTTGAAAATTTCCATAATAAAATACAT TTTCAAATTTAAAAAGTCATTTCTCCAAAATCCTTTTAATTTTCAAATTC ACTCAGTAAAGAAAGAGGAATCAGCAAGTGTTCCCAAACATTTTGAACCA TAATCTTAGTTACCCACCTGCTGGATCATTCTTAGATCATTTCTTAGTAG TCAGAAAAACTGGTCCAAATAATTAAGACTCGATAAAAATCTTGCTAAAT TAATCAAACATATAATTTATTCATCTACTCCTTCATTTATTCCACAAATA CATGTCAAAGACCTCTAAGAAGCAGATGTCTCTTCTAAATGCTACAGAAA AAGAGAACTGAATTGTAATACAACGTGATATACATTAACTGCTATAAAAA CACGACAGGGAGGGCATTTTCGGGACCATGAAGGGTGAGTAAAATTTTGC CAGATTGGGTACAGGGAGCAGAAAGTTCATCCCAGGGTATGGACTATCAT GTAGGTAACCTTATAATACATAAACTTTGTTTTACAGCTAAAAAAGGTAA ATTATATATTTCTGGTAGTTGCTTCTCAAATATGTCAAAATAATTTAAAA TAAATATATGTACATTAATCCCTCCTTTTTGTATCTTACATACTGATTTT AGAAGATTCTGCAATCTTTTCAATCACCAGTATAATTTAGGTTTTGCTTA TTCACCACTAAATCACAGCAACATGTATTTCATTTATAATAATTAAAGGT ATGTTCGTTCACATTTGATGGTATTACCACTGAGAGGTTTTTTGCAATAA CATGTTTTCCCTGGAACTCACTTTGGGAAACAATTCTCTAAAGTCTTGAA ATCCCAAGAGTGCATACTCAGGGATTAGAAAGGTTTCCCTAGACCAGGAT GCAAATAAAAATGCAAATCTTTCACACAGCAACTCTGCCCCCAAAAAACT GACAAAGGACAAATATCAAAGTACTGTGTAAATTGTCTACAATCTATTTA GAGACTTTAAATATGTTATGTTGTCCTTTTTAAGGCATGTGGCTGGTCAC ATTTCCTTTGATGAGTAGTTTGCCTTTCTAAGCAACCTAACCAAAATTCT GGCATATGTGAGTTTACTGCAATATTATTTCTTTATGATCTGCAAGATGT GGATATCACTGTCTATCTCACATGCTTAACGTGAAGGTTATATGAGATTT TTTTAAATAATGAAAGTCAGTGTTTGGTGTTTAATAAATAGTAGTAATTA ACAATAAAAAATATTTACCCATATACCTATTCAGGCAATTGTACAACCAT GCTTTTAAATTTGAGCCAGGAACTGAGGTGAGCCAGAATTCATCTTATTT TATGAGTATAGTTACAAAGTCCTAACTCATAGTCTCATTGCATTACTGAT CACTTTAATGTCATGATAATTTTTCATTTGCTCCCTTTCAGATCCAAACT CCTTACTTCACTGATCACCCAAGACTGGTACTCTTTACGGAGTTCGCTAG CGAAGACCTTAGAATTCTTTTATCATTTATCTGTTAGTGGCTGAGGATAG AAATATCAGTGGACCTTCACCTCAAATAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	84	0.0119	-1929	c.239 others(19): Show c.239+60034_239+61962del	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	3/5			chr7	TogoVar
SNTG2_chr2_945849_1372613	1344289	CTTTTCCC others(1922): Show CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGTGGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTG TAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGG ACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTG TTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCA CTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGG CACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCG GCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAG GAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCT CTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGC AGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCA CGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCT CTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGA CTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTGGCCC AGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTG GGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGG ACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTT TTCCCCCTGTTGTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGC TTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGA GTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTCCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCA CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTGGCACT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0079 a0005c0006t0001g0079	1	188	0.0053	-1929	c.148 others(21): Show c.1489-23050_1489-21122del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACAP3_chr1_1287391_1312930	1288264	TCTGCTCC others(1920): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0205 a0001c0007t0001g0205	1	281	0.0036	-1927	c.33 others(11): Show c.3373_*5299del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4126		chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288264	TCTGCTCC others(1920): Show TCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCG TGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCT CCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC CCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCC CCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCC GTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCC CCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGCC CCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTG TCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCG TGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCC CGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCC GTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTC TGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCGTCCCCCGAGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0012 a0012	a0012c0023 a0012c0023	a0012c0023t0001 a0012c0023t0001	a0012c0023t0001g0263 a0012c0023t0001g0263	1	270	0.0037	-1927	c.166 others(16): Show c.1662+240_1663-68del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SNTG2_chr2_945849_1372613	1342932	CCCCCTGT others(1920): Show CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCA CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTC TGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCA GGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACG CCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTT AATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCC TGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCT CACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACT CGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGC AGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATA GGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGC TCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAG CAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGAC AGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGC ATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCC AGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGG AAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGG GCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGA CTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTT TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0003 a0005c0006t0002g0003	1	186	0.0054	-1927	c.148 others(21): Show c.1489-24369_1489-22443del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343273	TCCCCTGT others(1920): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTG GCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATT TGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTT CTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACT GGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCA CTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCA GCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAA GAGTGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTG TAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGG ACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCC TGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAA TTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCCT GTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTC ACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTC GCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCA GCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAG GAAGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCT CTGTAGGACAGTGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGC AGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGCAC GCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTT TAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCC CTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTC TCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGAC TGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTGGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCA GCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGA AGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTT CCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACAT GCATAGGAAGAGTGGACTCGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02717.hp2 HG02683.hp1 HG02717.hp2	a0003 a0009 a0003 a0009	a0003c0008 a0009c0012 a0003c0008 a0009c0012	a0003c0008t0001 a0009c0012t0001 a0003c0008t0001 a0009c0012t0001	a0003c0008t0001g0011 a0009c0012t0001g0146 a0003c0008t0001g0011 a0009c0012t0001g0146	2	126	0.0159	-1927	c.148 others(21): Show c.1489-24028_1489-22102del	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
IPCEF1_chr6_154149496_154361803	154359877	TGGCCTCC others(1919): Show TGGCCTCCCAAAGTGATGGGATTACAGGCATGAGTCACCACGCCTGGCCT AGATATGCTTCTAATCAGTATCCTTAGAGACAGTCCTGAAGATATTGTAT CCATTAAAAAGAACAGGATGCTAAGAAAGATAGATAATCTGAAAACAAGA AAGACCCCTTGGATATTGCAAATATAATTGTTAAATAAAGATTTTGATAG GTTGGGTGATAAATTCAAGTGAAATTTTCAGGAAATATTATTTGATGACA TAGTCAAAGAAATAACATAAAGGATCCCCCTGAAGTCCAAGAATATTTAG ATTAAAAAGTCTCATCGAGTGCCTAGGATGAAGAATTTCAAGTCACTGCA AAATTTCCAAACTCCGGAAATAAAGAGAAAATCTTAAAATCTCCCAAACA CAGAAAATAAGTCACTTTCACAGAAACAAGGAATCAAAGGGCTCCAGATT TCACAGAAGTAGCATTAAGGGTTAGAAGGTCAGCGAGCACAGCCTTCAAA GTTCTGAAGGATTTATATTTCACTCTAGAATTTTGTGTTCATTCATCCAG TGTATTAGTCCATTTTCATACTGCCATAAAGAACTGCCAGAGACTGGGTA ATTTCTAAAGGAAAGAGGTTTAATTGACTCTTATAAATTAAAGAGGTTTA ATTCAGCATGGCTAGGGAGGCCTCAGGAAACTTACAATCACAGTGGAAGG TGAAGGGAAGCAAGGCGCCTTCTTCACAAGGTGGCAGGAAAGAGAAGTGC TGAGTAATGGGGTAAGAGCCCCTTATAAAACCATCAGATCTCATGAGAAC TCACTCTCACAAGAACAGCATGGGGGAAACCACCCCCATGATTCAATTTC CTCTACCTGGTGTCTCCCTTGACACATGGAGATTATGGGGATTACAATTC AAGACGAGGTTTGGGTGGGGACACAAAGCCTAGCCATAGCATTCAGCAAA TATTTTTGAGCACTGTGTCTAGGCAGTGAGGACGCAGCAGTGAACCAAAT AAAGTCCTGCCCTCAGGGAACTTCTTTTCTCATGCTCAGATCAGGATGGT GTACTCTCTACACAAACAAAGAAAGTAAAATATAATGTGTTAGGTAGAAG TAAGTGCTAAGGAGGAAAAATAAATCAGCAGAGGAAATATATAGAGTCTA AGGAGAGGCTAAAAATTAGATGGGGAGGCCAGCAAAGGACTCACAAAGGT GACCTCTGAGTGACAGCCTGGAGGAAGTGAAGGCGTGAGCTGTGTAGACA GCTAAGGGAAGAGAAATCCGCAGACAGAGCCCCAAATGCAAACATCCTGC CACCCCCAGAGCCTTTTGGTGCCGCAGGAACAGCATGGGGGCAGGTGTGG CTGGAACAGAGCAGAGCGGGTCAGAGATGGAGAGGGGAGCCGGGGAACCC ATGATTATGGTTAGGTCCTATGGGGATCGTTGTGAGAACTTGGGTTTTTG ACTCTGACCAACTAAACCAGGAGCTGACAAACTATTTCTGGAACAGGCCA GATAGTAAATATTTTAGATTTCGTGGGCCAATCTCTGTTCAATTACTCAA CCCTGCCATTGTGGTATCAAAGCAGCCATAGATAACATGTAAAAGAGCAG CTGTGCTCTAATAAAACTTTATCTAGGGCCACTAACATTTGAACTGCCTA TAATTTTCACGCATCACAAAATCTTCTTCTTTTGATTTTTTTAAGCACCT AAAAATGTAAAAAACTGTCATAACTTACCAGCTGTGCAAAAATAGGCAGC AAGCCAAAAGCGGCCCGTGGAAAGTAGGTTGCTGATCCCTGAATGAAACC ATCAATTAGGTGTGAAGGTAGAACATGCCCGTTTTCAGATATATCAGAGC TGACTCAGAAGGCTGACTGCCCACAAATCCTTTCTTTTTTTTTTTTTAAT TTTTATTTTTTGAGACAGAGTCTTGCT	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	262	0.0038	-1926	c.-51 others(11): Show c.-5193_-3268del	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding		3075		chr6	TogoVar
FAM151A_chr1_54604181_54628525	54626600	GGTCAGGC others(1918): Show GGTCAGGCTGACTGTGGGCCTATCTGCCTGATTTTATCCATCTACTTGTC CCTTCTTATTCACACCCATTTACAATGGGACAGTCACTTATTTTGGCAAG AATATTTAACAGCAATGCTGGACAAATCTATTTTTGAAAGAAAAATCAAG AACTTAGTTCTTACGGTCCATGAGGGCACCCCCTGCACAAACCATTCTCA TTTTGGAACTGCTGCTTATTTAGTGTTTGTGACACTCTTATGAAGGAGGC ATTCTTTTATTTATTTATTTATTTTTGAGGCAGAGTCTTGCTCTGTTGCC CAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTGTGACCTCTGCCCCC TGGGTTCAAGTGATTTTCCTGCCTCAGTCTCCAAGTAGCTGGGATTACAG GTGCGCACCACCACGCTCAGCTAATTTTTGTATTTTTAGTAAAGACGGGG TTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCC ACTCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACTGTA CCCAGCCGAGGAAGGCATTCTTATGCCCCTTTTTCACAGAAGGGAGCCAG AGTCAGTTTGCAGCAGAAAGGGATGCCCATGCCCTGTCATTCCAACTCCG CGGGCCGTGTGTCACCTGTCCTCCCTGGGAAAGAGGCCGGCGAGCCGAGC TCTGAGGCACAGAGCTTCGCCACTCTCTTGGTTCCAAAGAGCTCTGCAGG ATGTCTGGGAGGAAAGAGACTTCATCTGGCTCTGGTTTTTGGCAGGAGGA ACAGCCCTGGAACCGACTCCAAGCTGTGAAGACTCCTCCATTGTCTGTGA CACTTCTCGTGGGGCATAAATTACTAAACAAGTTACTGAGCATGCATTCT GTGCCAGGCACTGTGCTAGGCTCTGGGGATCCACCCCGTGGCATACTGTG GGAGAGAAGAAAGCAGGGGCTGTCAGGGGGCTCCAGCATTTCAGATGTGA AACAGCCATTTTATTAATAGAGCTGGTGCACATCAAAAACACAGAGCAGG CTTATAGCCTGTAAGGATGTCAGACATGGAAAGTGGCAGTGGGCCCAGGT TGGGGCATGCAGGATGGAGAAGACACAGGTTAGAAACCCCAAACTCCTGG GTGGGCCAGGAGGCTTTCAGAAGAGGCTTGGCTGACTCGGAGAACCATCA GGGACGGGGGCTAGGGAAGACCTTCCAGACAAAGGGTGCAGTGTGTGTGG GAGAGGGCACAGGCATGAGGGAGAAGAGCCTGTTTGGGAGCGTGAGTGGT GTGGCTGGAGCAGCAGGTGGGAAATGTGGGGAGGCGGAGGGGGAGAGAAA TGAGACTGGGGAGCCCCGGAGGCCTGGGTCACCCTGATAAAGAATTTGGC TTCAACCTGGATGGGTTGGGGAGCCCTTACCCATGGGATAAGCAGGGAGC GCCACACTCAGCTTGCATTTGGGAGGTGGCTGGAGGCTGGAGTTGAGAAA TGGTTCTGGAGGCCTGACTGCCTCTGCATCCAGGCTGTCCTGTTTCAGCA CTGCTCACCCCTGCACCCCGGCAGAGCCACAGGACTTCCCACACTGCATT GCTTAGAACAGCAAATGGCCCAGGGAAGTGTGTGCCTCAGGCTGTGTTAT GTGGGTTACTCTGATACTCTCCCCACTCCCATACCATTGCATGTTACAGG GGAGGTGAAACCAGGGGTGGTTCAGAGGCTCCAACATTTCAGACATGGAG CTGTCATTTTTAGAACTGGTGGCTCACACCTGTGATCCCAGCACTTTGCG GGGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGCTCGAGACCAGCCTGG GCAATGCAGAGGGATCTCATCTCTACAAAATAAAAAAATAAATTAGCGAG ACATGGTGGTGCATGCCTATAGTCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(139): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02148.hp1 HG02257.hp1 HG02486.hp2 HG02523.hp2 HG02683.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG03453.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04184.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA18988.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0014	a0001c0001 a0001c0003 a0001c0005 others(7): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0012 a0002c0002 a0003c0004 a0004c0006 a0006c0011 a0014c0021	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0005t0001 a0001c0008t0002 a0001c0012t0001 a0002c0002t0001 a0002c0002t0006 a0003c0004t0001 a0004c0006t0001 a0006c0011t0001 a0014c0021t0001	a0001c0001t0001g0050 a0001c0001t0001g0201 a0001c0001t0001g0242 others(98): Show a0001c0001t0001g0050 a0001c0001t0001g0201 a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0304 a0001c0001t0001g0309 a0001c0001t0001g0315 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0019 a0001c0001t0002g0024 a0001c0001t0002g0035 a0001c0001t0002g0048 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0191 a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0288 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0325 a0001c0001t0002g0328 a0001c0003t0001g0001 a0001c0003t0001g0033 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0109 a0001c0003t0001g0140 a0001c0003t0001g0146 a0001c0003t0001g0159 a0001c0003t0001g0161 a0001c0003t0001g0166 a0001c0003t0001g0169 a0001c0003t0001g0182 a0001c0003t0001g0202 a0001c0003t0001g0210 a0001c0003t0001g0240 a0001c0005t0001g0032 a0001c0005t0001g0232 a0001c0005t0001g0327 a0001c0008t0002g0009 a0001c0008t0002g0121 a0001c0012t0001g0163 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0036 a0002c0002t0001g0051 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0091 a0002c0002t0001g0113 a0002c0002t0001g0118 a0002c0002t0001g0147 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0173 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0193 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0197 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0204 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0238 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0256 a0002c0002t0001g0298 a0002c0002t0001g0311 a0002c0002t0001g0320 a0002c0002t0001g0321 a0002c0002t0001g0324 a0002c0002t0006g0055 a0003c0004t0001g0165 a0003c0004t0001g0172 a0003c0004t0001g0192 a0003c0004t0001g0235 a0003c0004t0001g0255 a0003c0004t0001g0318 a0004c0006t0001g0319 a0006c0011t0001g0148 a0006c0011t0001g0190 a0014c0021t0001g0158	142	446	0.3184	-1925	c.-51 others(11): Show c.-5130_-3206del	FAM151A	ENSG00000162391.12	transcript	ENST00000302250.7	protein_coding		3076		chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203715148	ACCTGTAA others(1916): Show ACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCACTTGAAC CCGGGAGGCAGAGGTTGCAGCGAGCCAAGATCACGCCACTGCACTCCAGC CTGGGTGACAAAGCTAGACTCTGTCTCAAAAAACAAAAGAGATTCCCCCT CATTGACTATTTGATTACTCTGAGGCGGGCAGATCGCCTGAGGTCAGGAG TTCGAGACCAGTCTAGCCAGCATGGTGAAACCCCAGCTCTACTAAAAATA CAAAAATTAGCTGGGCATGATGGTAGGCGCCTGTAATCCTAGCTACTCCG GAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTACGATG AGCCGAGTTAGCACCACTGCACCCCAGCCTGGGTGACAGAGCAAGATTCC GTCTCAAAAAAAATTTTCTTTTCATTATATGGGGGGATGGTGTGGGGCAA AAAAAAAAATTTCATTATATGCCTCTAAATAATAATTATATATCAATAAT CTATATATCTAAAAGAATCTTAATACCATTATCTCAGAACAAAATCGATG CTTCCTTACTATCATGAAATTTCTAGTTTGTTCACATTTTCCTAACTGAC TCAAATGTTTTTATAGTTTATTTGCCCAAATCAGGATTCAGATAAGATCC ATAACTTGCAGTTATTTGATACATCTGTTAAGTCTCTTAACCTATCTCTT GGAGTGCGCCTCCTTCCAGCTGTACCAGTAGCTGTACTAGCTGTATAGTA GGTTTCTATACAAACCCATAGAATGCAGATTCACCCACTCAGGCCCCACC CCAGATTTACTGAATTGGAAAGCCGGGAACTGGGGCCCAGAAATCTTAAT TAATTATGTTAAATCTGTTAAATGTGTTTTGACAGGCTCTCTCAGTGATT CTATGTACCCTAAACTTTAAGAATCACTGATCTTATAGGATCTCTATGTT GGGAGTCCCCAAAAACACCCCTATATTCATGGGGTTGCTAGGAGGACTCA TGGGACTTGGCATATAGTTGTACTCATGACTAAGATTCATAACAGTGATG TAGTAAGAATACAGTTGGATCATAAAAGAAAAAGACAATGGCAGAATCTG GATAAATCTATTTGCAGTCTTTCTTATGCTCTCCCTCCCATGAGGAGTCA AACAGAGTCCATTCTTTCCCCACTAATGAAAACACAGAAATATATGTGTG ATGTTCTGCCTAGGGAAGCCCATCATGGACTTAGTACCCAAGGTTTTTCT TGAGGCTGGTCACATAGGCACCTTCTGCCTAGCACATACCAAAATTCCAG ACTCCCAAAAGGAAAGCAAATGTTCAATGTAAACCACATTGTTCGGACAC AGTCTAGACACAATGAGCCACCTTTATCAGTTAGTTGTTGAGGGCAAGCA TTCTGAGAGCCCATTTCCCAGAAGCCAGCCAAGGGCCCACCCTGCAAGCA TTCCTTCCTAAGGACAGTCGTCTCAGGCCTGCTGTGTTAACTCTCTTTTG CACAATCCCCCTCCATCTTTTTTCCTAGCAACTTAGTTTTGAAGGAAGTG GGTTGTTTGTCTGCAGAGACTATCCCTCAGTATAGATTTTGTTGATTATT TCACTGTGATTTCCTTTAACGTATTATTTTCTTCCTTATATTTCCTATAA GCAAGTAGTTGGTTCTAGAAGTTATCAGATTCTAGACCCTTTCTTTCATT GAGGGCTGCAAAATGACAATATTGTAATTCTTTATTTATTAACTTAAATA CTTACATAAAAAGAGATTCCCGGCCGGGCGTAGTGGCTCGTGCTTGTAAT CCCAGCACTTTGGGAGGCTGAGGCAGGCAGATCACGAGGTCAGGAGTTCA AGACCAGCCTGGCCAAAACAGTGAAACCCGTCTCTACTAAAAACACAAAA ATTAGCTGGGCATGATGGCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00558.hp1 HG01074.hp1 others(56): Show HG00099.hp1 HG00558.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02109.hp2 HG02132.hp1 HG02257.hp1 HG02280.hp1 HG02615.hp2 HG02965.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03471.hp1 HG03540.hp2 HG03704.hp1 HG04115.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18947.hp1 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18985.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp1 NA19012.hp2 NA19062.hp2 NA19068.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0001c0021 a0006c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0050 a0001c0001t0053 a0001c0001t0054 a0001c0002t0045 a0001c0015t0002 a0001c0021t0002 a0006c0014t0007	a0001c0001t0001g0092 a0001c0001t0002g0044 a0001c0001t0002g0046 others(56): Show a0001c0001t0001g0092 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0161 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0004g0303 a0001c0001t0006g0003 a0001c0001t0006g0005 a0001c0001t0006g0007 a0001c0001t0006g0032 a0001c0001t0006g0078 a0001c0001t0006g0085 a0001c0001t0006g0086 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0006g0108 a0001c0001t0006g0112 a0001c0001t0006g0125 a0001c0001t0006g0127 a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0007g0226 a0001c0001t0009g0149 a0001c0001t0015g0052 a0001c0001t0019g0250 a0001c0001t0019g0296 a0001c0001t0020g0159 a0001c0001t0022g0136 a0001c0001t0022g0151 a0001c0001t0037g0105 a0001c0001t0042g0145 a0001c0001t0044g0138 a0001c0001t0050g0310 a0001c0001t0053g0180 a0001c0001t0054g0171 a0001c0002t0045g0074 a0001c0015t0002g0253 a0001c0021t0002g0197 a0006c0014t0007g0165	59	316	0.1867	-1923	c.240 others(18): Show c.2406+890_2406+2812del	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAXO2_chr15_82257818_82289927	82273536	ATGTTTTT others(1916): Show ATGTTTTTTCTGTTTTTTAAATCTTTGAGCACATAACATACTACACAAAG AACAAATTGTGAAGACTATGTGAATGGTGAAGAAGTATATTATAATTAAA TGTAGCATAGAGTAATTGCTGATAAATAGATTGATATGCGTAGGAGAAAA TGTACTGTGCCAAATTTGGCATAAATAATAATTGATGAAAATGAATTTGT TCTTTTTTTGTTTGTTTTTTGAGATTGAGTCTTGCTCTGTCACCCAGACT AGAGTGTAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTT CAAGTAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGTGTG CGCCACCACGCCTGGCTAATTTTTGTATTTTTGGTAGAGACAGAGTTTCA CCATGTTGGTCAGGCTGGTCTCAAACTCCTGACCTTGTGATTCGCCCGCC TTGTCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTATATTTGGTC TCTTATACAATCACAGTAAGATTTTCTTTTTTTCTACAAGATCCATAAGA AAAATACCAGTAATACTGTTGTCCCCGATGCTGGGAACATGTACACACAA TACACGCACACACTTATACCAACACTACTAGCTTTCCATGACCTGGGTTT CCTGTAGATTCTGATACTTCCACTCCTATGGTTGTAGTTCAAGGATAAAG AATTTTGAGTTCCTCTGGCATTCTCACTACTGAACTTTCTTAGTCAACAA AGGTGATATTTTGTATTTCAGATTTTCAGGCATGAGACAACAAAAACACT AAGAGCCAAGGTTGTACTTCCACACTCTGTATGAATGTGCTGCAGGTTTT GTAGATAACCTATTTAAAAACAATTCTACAGCTGAAGAGAAGCCACAATG GGAAGATACTCTCACTGTCCTCCTTTGGGAGGCCAAGGCGGGTGAATCAC AAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTC TACTAAAAATACAAAACATTAGCTAGGCATGATGATGGGTGCCTGTAATC CCAGCTACTCAGGAGGCTGAGGCAGGAGAATATCTTGAACCCGGGAGGTG GAGTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGCAACAG TGCGTGACTCTGTCTCAAAAAAAAAAAAAAAAAGTATTTGAAATAAATAA AAATAGAGACACAACATACCAAAACTTCTGGGATGTGGCAAAAGCAGGGT TAAGAGGAAAGTTTATAATGCTAAATGCCTACATCAAAAAGATAGAAATA TCTCAAATTAACAACCTAACATTGCAACCAAAAGTACTAGCAAAATAAGA ACAAACTAAACCCAAAGCTAGCAGAAGAAATAATTAAAGTCAGAGCAGAA CTGAATGAAATTGAGACCCTCAAAACCATGCAAAGGATCAATGAAGCAAA AAGTTCATTTTTTGAAAAGATAAGATTGATAGACCACTAGCTAGATTAAC AAAAAAAGACATCCAAATAAGCACAATCAAAAATCACAAAAGTGACATCA CAATTGATCCCACAGAAATACAGAAGATCCTCAGAGAATATTATGAACTT CTCTAGGTACACAAATTAGAAAGTCTAGAGGAAATGGATAAATTCGGAAA CACAAATTCCCAAGATTGAACTAGGAAGAAACAGAAATCCTGAACAGATC AATAACGAGTAAGGAAATTGAATCAGTAGTAAGAAACCTATCAACCAAAA AAAAAAAAAAAAAAAAAAAAATGCCCCAGACCAAATGGGTTCACAGCTGA ATTCTACCAGACATAGAAAGAACAGCTGGTACCAATCCTAGTGAAAGTAT TCCAAAAATTGAGGAAGAAGGACTCCTCCCTGACTCATTCTGTGAAACTA GTATGATCCTGATAACCAAAATCT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01261.hp1 HG01070.hp1 HG01071.hp2 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0019 a0002c0002t0005g0019	3	404	0.0074	-1923	c.433 others(17): Show c.433+1735_433+3657del	SAXO2	ENSG00000188659.10	transcript	ENST00000682753.1	protein_coding	3/3			chr15	TogoVar
DPH7_chr9_137549444_137583925	137566102	TCTGTCTG others(1915): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTG TGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTG TGAGGAAGCTCCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTG ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTG TGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGAC TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAG GAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTC TGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGA AGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTG TCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCCTGGG TGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTG AGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGAC TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCC CCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAG GAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG TCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTG GGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCCGTGAGGAAGCTCCCCGGGGTGACTCTGTC CGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGG TGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAG CTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGG TGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAG CTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTC TGTGAGGAAGCTCCCCTGGGTGA	T T	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18960.hp1 NA18964.hp1 others(3): Show NA18944.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp2 NA18980.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0166 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0166 a0001c0001t0001g0180 a0001c0001t0001g0194 a0001c0001t0001g0221	6	329	0.0182	-1922	c.641 others(16): Show c.641-2870_641-949del	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
RIPK1_chr6_3063494_3120187	3090743	TGCACCTA others(1915): Show TGCACCTAATAACCGCAGCGCACCTACCTGCCGCACCTAGTAACCGCAGA GCGCCTACCTGCCGCACCTAGTAACCGCAGCGCACCTACCTGCCGCACCT AGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTA CCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACC GCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCG CACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACC TGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGC AGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCA CCTAGTAACCGCAGAGTACCTACCTGCCGCACCTAGTAACCGCAGCGCGC CTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTA ACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTG CCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAG CGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACC TAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCT ACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGTAAC CGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCC GCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCG CGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTA GTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTAC CTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCG CAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGC ACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCG CCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTAGT AACCGCAGAGCGCCTACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCT GCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCA GCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCAC CTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAGTAACCGCAGCGCGCC TACCTGCCGCACCTAGTAACCGCAGAGCGCCTACCTGCCGCACCTCGGAA CCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGC CGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGA GCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTACCTGCCGCACCT CGGAACCGCAGAGCGCCTACCTGCCGCACCTCGGAACCGCAGAGCGCCTA CCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACC GCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGCGCCTACCTGCCG CACCTCGGAACCGCAGCGCGCCTACCTGCCGCACCTCGGAACCGCAGCGC GCCTACCTGCCGCACCTAGTAACCGCAGCGCGCCTACCTGCCGCACCTAG TAACCGCAGAGCGCCTACCTGCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02145.hp1 others(17): Show HG00639.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02630.hp1 HG02922.hp1 HG02970.hp2 HG03098.hp1 HG03225.hp1 HG03453.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0014	a0001c0001t0003g0012 a0001c0001t0003g0037 a0001c0001t0003g0062 others(17): Show a0001c0001t0003g0012 a0001c0001t0003g0037 a0001c0001t0003g0062 a0001c0001t0003g0065 a0001c0001t0003g0083 a0001c0001t0003g0085 a0001c0001t0003g0098 a0001c0001t0003g0200 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0004g0013 a0001c0001t0006g0034 a0001c0001t0006g0063 a0001c0001t0006g0066 a0001c0001t0006g0130 a0001c0001t0014g0025 a0001c0001t0014g0040	20	329	0.0608	-1922	c.915 others(17): Show c.915+1094_915+3015del	RIPK1	ENSG00000137275.16	transcript	ENST00000259808.9	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
DYNC2I2_chr9_128628653_128661847	128649777	GAGGTCAG others(1913): Show GAGGTCAGGAGTTCAAGACCAGCCTAACCAACATGGTGAAACCCCATCTC TACTAAAAATACAAAAATTAGCTGGGCATGGTGGTGCGTGCCTGTAGTCT CAGCTACTAAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACAG AGGTTGCAGTGAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGTGGCAG AGCGAGACTCTAAAATATAAATAAATAAATGAAAAATTTTTTAAAAAACT ACTGGAAAGCAGCTGGATTAAACTAGTGGTTCTAGTGGTTCTCAAACTTT GCTAAGCATTAGAATCATTTAGGGAGATATTATGAAACCAGATCCCCAGG TCATACCACATCCAAAGTAAGCCACAGTAACTGCAAGTAGAACCCAGGAG TCCACATTTTTCAACACTTTCCAGGGCATTCCAGTGTTGACTACCTTTGA GAAGAGGAATGAGGAGGCCCCCCTCAGCTGAGACAGCAGGGCCAGTCACT GACACTCAGAAACTCCACGTGAACAGCACTGGCTTTCACTTGGCTTTCTG GTCAACAGTCCCATTCAACCCCATAAGAAGTATCCTAACAATCGCACTTC ACAGAAGAGAGACTGCGTTACTAGTCCAGGGCCAAGCCACTGATAAAAAG GATCTGCACCCTCAAACTCAGATCGAAAATTAAGGTCCAGGACACTGTCC CTCTAAACAGATAGGGACGTGGCAAGAAAAGTCAAGTCAGGCCAAAGACC ATATATATATATATATATATATGCCACCACGCCCGGCTAATTTTGTATTT TTAGTAGAGACAGGGTTTCTCCATGTCGGTCAGGCTGGTCTTCAACTCCC AGTCGACCTCAGTTGATCTGCAAGGCTCAGCCTCCCAAAGTGCTGGAATT ACAGGCATGAACCACCACACCCAGCCCCATTTTTGTATTTTTAGAGATGG GGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGAT CCACCCACCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGCCACCA CGCCGGCCCATAGATTACTTGTATAAAGAACAAAAAGTTAACTCAAAAAG CACCAGGCAGCAGTGGCGCAGTAGTCACCATGACGGCTAAGGGGCTGGGT GCGGTTCTGCCAGGCTAGGAGCACAACCGGCACCCAGAATCTGTCGCCGC TGCTTGAACACAGCCTGCACCATGGCCACCTCTGCCCCCTCCTCGGAGCA TGTCGGGAAGCGGCATGAGATCTTTCACTGTCTCTATGAAGGCCTACAAG GAGTGCCCAAGCACCTGCTGGGTGCAGTGGGGACCAAAGAGAAGTTGATC AGAGATTTTGATGAAAAGCAACAGGAAGGAAACAAAAAGCTGGCAGAGAT GGAGGAGGAACTACATTATGCACCTCTATCTTTCCGTAACCCCATGATGT CTAAGCTTCAAAACTACCAGAAGGGCCGGGGGTAGTAGCTCATACCTGTA ATCCTAGCACTTTAGGAGGTCGAGGTGGGCAGATCACTTGAGGTCAGGAG TTCAAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAATAATA CAAACATTAACCGGCCGTGGTGGCGCACGGCTGTAATCCCAGCTTCTCGG GAGGCTGACGCAGGAGAATCGCTTAAACCCGGGAGGCAGAGGTCGCAGTG AGCCAAGATCGTACCACTGCACTCAAGCCTCAGCAACAGATCGAGACTGT CTCAAAAAACACTACTGGAAGGACCTTGCCAAACTATCAGGAGATGAGAA GCACACCTTGGAGAGCCACAACTGGAGGCCGAGGAGACATGAAATATGGC ACACAGCCAGGCACGGTGGCTCACACCTGTAATCCCAGAACTTTGGGAGG CCGAGGCGGGCAGATCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(175): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18972.hp1 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp2 NA18988.hp2 NA18990.hp2 NA18994.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19086.hp2 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0006 a0001c0011 a0001c0013 a0004c0012	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0001c0013t0001 a0004c0012t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(148): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0305 a0001c0001t0004g0040 a0001c0003t0001g0037 a0001c0003t0001g0084 a0001c0003t0001g0303 a0001c0003t0001g0304 a0001c0005t0001g0069 a0001c0005t0001g0070 a0001c0005t0001g0085 a0001c0006t0001g0015 a0001c0006t0001g0178 a0001c0006t0001g0184 a0001c0006t0001g0276 a0001c0011t0001g0176 a0001c0013t0001g0297 a0004c0012t0001g0256	178	366	0.4863	-1920	c.186 others(17): Show c.186+4844_186+6763del	DYNC2I2	ENSG00000119333.12	transcript	ENST00000372715.7	protein_coding	1/8			chr9	TogoVar
C2CD4B_chr15_62158535_62170285	62168366	AAAGCAGG others(1912): Show AAAGCAGGGCTGGAACTCAAATCCAGATCCATCTGGCTCATGGTCCTGTG TGCTTATAACCCCTTCCCTACAGTGCCTCTCTCAAAGCCATTTCTCCTGA ACCCAGCTCCTCTCTAGGTAGCTAGATAATAGAGAAAGAGACCCTTGTTC CAAGGCCTTGAATTGAAACTTACACACCTTATTGATTATACCAGTACCTC ATATATTAAAGCATGACATTGTCATAAGCAGGAAAGCATGCGTTATGCAC AGTAGTGCTGTGCCATTTGTAGACAGAATCCTTGTCCCCCCAGGAAGTAT AGTCGTTCTCTTTATGTTATACCTACTTCCAAAAAAAGGATTGGGGTTGT TTACATAACAAGGACCCAGGGAATTTATCAGCTGCTGGAAACTGATATGA TGAAAATGGAAAAGACATGCAATTAACTGAATGACAAACCTTGAATGAGG TCACAAATTGACATATGTCAACACCTATGCCCCGAGGGTGGGAAGGGTAA GGTGTAAAGGCAGTTAAAGAGTCTCTAGTGGAAAGGCTTGGAACGGTGAG AAGTTCTAAAGGAGCCTCATGGTCCACTAGCCTTGGAAGGCCATGGAAGA ACCAGTCTGAATGTTTAGCAGTGTGGGAATGGCTGTGTCCCTTTACGGAA CAAAACACAGTCATGGGAAATCATTATCTAGAAGACTGTAGCAACAGTCT GCATTCTGTTCATGAGATTCACTTATGTTACATGTATAGCGCTAGTTCAT TCGCTTTCACTGACTTACAGTATTCCATCATTTAATGTACTCTGTTTTCT CGCTGACAGATATTTTGATTGTTTCTGATTCTTCCAATGCTGGTATGATC ATTTGTGTACCTGTCTTCTTAATCATCTATGCAAAAGTTATCTAGAGTAC ATCTCTAGGAATATAATAGCTGGTAATAGGATATTTGCATCTTCAATTTT AATGCAAAATCAGTTTCCTCGTCATCAATATATAAGATTTCCTATGGCTT CACATCCTCAACTATACTATTATTATCAGAGAGTTATGGACTGAATGTGT ATGTCTCCACCACCAAATTCCTATGTTGAAATCCTAACCCCCAATGTGAC AGTATTAAGAAATGGGTGAGGTGATTAGGTTATGAGCCCTGATGAATGGG ATTAGAGCCTTTATAAAAGAGTCCTCAAAGAGCCCTCACACCTTTCCACC ATGTGAGGACACAGCTAGAGGGGAACCCTCACCAGACACTGAATCTGCCA ATGCCTTGATCTTGTACTTTCTATCCCCAAAACTGTGAGAAATAGATGTT GTTGAAACCGTCCATCTGAGTAGCTAGGACCACAGATACTTGCCACCAGG CCTGGCTAATTTTTGTATTTTTTGTAGAGTCAGGGTTTCACCATGTTGCC CAGGCTGGTCTGGTACTCCTGAGCTCAAGCAATCCACCCACCTCGGCCTC CCAAAGTATTGGGATTAGAGGTGTGAGCCACTGCACGCAGCCCAGATGTT TAGTAAATACCGCTACTATGGTGAGTGTTACGTGTTGAACTGTGTCCCCA CCTATTCATATGTTGAAGTCCTGAACTGAAGTACCTCAGGATGTAACCAT ATTTGGAGATCAGGTCTTTAAAGAGGTATTTAAGGTTAAATGAAATCATT AGGGTGGGCCATGTAACTGTCTGTGTCTTGCTTTTTGTATTTTTATGAAG TCTTTGGAGAAATAAAAGTTTTTAATTTTAATGTAATCAGATGTCTCAAT CTTTTCCTTTGTAATTTTGCTTAAAAAATAATCTTTTCCCCTGAAATAAT AAAGATTTTTTTTCTGTGTAGTAATAAAGGTATTTTTTCTATACAGACAG TTCCTGATCTATGATGGTTCTGCTCAACGATCTTTTGATTTTATGATGGT ACAAAAGTAATATGCATCCA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0004 a0003c0003t0001g0004	1	430	0.0023	-1919	c.-51 others(11): Show c.-5131_-3213del	C2CD4B	ENSG00000205502.4	transcript	ENST00000380392.4	protein_coding		3082		chr15	TogoVar
IQCA1_chr2_236319151_236512476	236424622	TGTCCATC others(1912): Show TGTCCATCACCTTACATGCTTAGCATTTTTTGTGTGTGATGAGAACATTT ACAATCTATTCTCTTAGCAATTAAAAATATACAATATAATATTGTTAATT ATGGTCATCATGCTGGACAATACATCTCCAGAACTTTTTCCTCCTGTCTA ATGGAAACTCTGTACCCTTTGACCAACATCTCTCCATTCCCTGATCTTCC CCTCCCACCCTTGGTAATCACTATTCTACTCTCTGCTTCTGTAAGTTAAA TTGTTTTTTTAGATTTTATTTATAAGTGAGATCATGCAGTATTTGTCTTT CTGTGCCTGGCTTATTTCACTTAGCATAACGTCCTCTGGGTTCATGCATG TTGTCACAAATGACAGAAATTTCCTTCTTTTTTAAAGCTGAATAGTGTTC CACTGGGTATATACAATACATTATGTTTATCCGTTCATCTACTGAAGAAC ACTGAGGTTGCTTCCACATCTTGGCTTTTGTGAGCAATGCTGCAATGAAC ATGGTAGTGCAGACATCTCTTTGACACACTGATTTCATTTCCTTTGGATA CATACTCAGTAGTGGGATTGCTGGATCATATAGTTCTATTTTTCATTTTT TGAGGAACTTCCACACTGTTTTCCATAATGGCTGTGTTAATTTACATTCC CACCAACAGTGTACAAGGGTCCCCTTCTCTCACATCCTTGCCAACATTTG TTGTCTTTTGTCTTTTTGATAACAGCCATCCTAAGTGTGAAGTAATATCT CATTGTTTAATTTGCGTATGTCTGTTGCGTTCAGCATTTTTCCATATACA TGTTGACCATTTGTATGTCTTCTTTTGAGAAATGTCTATTCATGTCCTTT GCCCAATTTTAAATTAGGTTGTTTTCTTGCTATAGCAGTCTTTAAATTCT TTATATATTTTGGAAATTAACGCCTTATCAGATGTATGGTTTGCAAATAT TTTCTCCCAATTCATAGGTTGACTCTTCTCTTTTGTTTCCTTGCTGTGCA GAAGTTTTTTAGTTTGGTGCAATCCCATTTACCTGTTTTTACTTTTGTTG CCTGTGCTTTTGGGGTCATATCCAGAAAATCACTGCCCAGATCAATGTCA TGGAGATTTCCCCTATGTTTTCTTACAGTAGTTTTATAGCTTCTGGTCTT TTGTTCATGGCTTTCACTCATTTTGAGTTGATTTGTGTATATGGTGTGAG ATAAGGGTTCAATTTCCTTGTTCTGCATGTGGATATATAGTTTTCTCAAA CCATTTATCAAAGAGACTTATCCTTCTTCCATTGTGTGTTCTTGACACCT TTGTTGAAAATCAATTTGCTGTAGTGTGTGGATTTATTTCTGGGCTCTCT CTTCTGTTCCACTGATCTTTATGTCTGTTTTTATGCCAGTATCACGCTGT TTTGCTTTCTGTAGCTTTGTAATATATTTGGAAATCAGGAAGTGTGATGT CTTTAGCTTTGTTCTTTTAGCTCAAGATTTCATTGGATATTTGAGGTGTT TTGTGGTTCCATATAAATTTTAGAATTGCTTTTTCTATTTCTGTGAAAAA GTGTCACTGAAATTTTGATAGTCATTACACTGAATCTATAGATCACTTTG GGTAATATGTTCATTTTTACAACATTAATTCTTCCAATTCATGAGTACAG GATATCTTTCTATTTATTTGTGTCCTCTTAAAATTCTTTCACCAATGTTT TGCATGTTTTGTAGGTTTCAATACACAGATCCTTCACCTCCTTGGTTAAA TTTATACCTAAATTAAAAGAATGTTACTATAAATGGGATTGTTTTCTTGA TTTCTTTTTCAGAGAGTTCACTGTTAGTGTATAGAAATGCTACTGATCTT TTGTATGCTGATTTTGTATCTTGCAACTTTACTAAATTTGTTCGTCAGTT CTAATAGTATTTTTAGTGGA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02723.hp1 HG02809.hp1 others(3): Show HG01884.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0072 a0001c0005t0002g0043 a0001c0005t0002g0058 others(3): Show a0001c0005t0001g0072 a0001c0005t0002g0043 a0001c0005t0002g0058 a0001c0005t0002g0059 a0001c0005t0002g0109 a0001c0005t0002g0137	6	206	0.0291	-1919	c.101 others(19): Show c.1012-7270_1012-5352del	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	7/18			chr2	TogoVar
LRRN4_chr20_6035546_6059060	6045049	CATTTTTT others(1910): Show CATTTTTTTTCTTTGAGTAACACCGTTGAGTCCTTTACTTACATTGTCTC ATATCAACTGGGGACAATATTCCCATGACTGATCGTTGTATCAAAAAGAA TGTGTGTTGGCTGGGCACGGTGGCTCATACCTGTAATCCCAGCACTTTGG GAGGCCAAGGCAGGTGGATTATTTGAGGTTAGGAGTTCGAGACCAGCCTG GCCAACATGGTGAAACTCTGTCTGTACTAAAAATACAAAAATTAGCCGGG CGGTAGTGGTGCACCTGTAATCCCAGTTACTCGGGAGGCTGAGGCAGGAG AATCACTTGAGCCTGGGAGGCAGAGGTTGCGGTGAGCCAAGAGCACACCA CTACCCTCCAGGATAGGCAGGAGAGTGAGACCCTGTCTCAAAAAATAAAA CAAAACAAAACAAACAACAACAACAAAAACACACACACAAAAAAGAATGC ATGATGATAAAAGTGTTTGTAAATGCAAATCTCCACATACAAATAGATAT TGTTATTATGGACCAGTGTTATTGCACTGTGGCTGGTGACACTCAACACC AGTCCTTTGGAAGATGCCTCATTTAAGTGCATCAGTGAACTCTTGCTAAG TAGAGAGTATCCTCCAAACTTAGTAACTTAAAACAATAAATATTTATTCC TTTGCATGATTCTGTGGGTTGGCTCAGTGGTTCTTGTGGTCTGGATTAGC TCAGCTGGGGCCAGATGATCTGGGATGGCCTCATGTGTAAGCCTCAACTG GCTGTGCTGGGACTTCTCTCCATGTGTCTGTCATCACCCAGGAGGCTAGC CTGGGCTTATTCACATGGTAGTGGAGGGATCCCCAATAGCAGGAGAGGGC AGGCCCCAGTGCTCAATTGCTTTCTAGTTTCTGCTTACATCACATTTGCT AATATCCCACTGGCCCCAAGCAAATCACAAGGCCAAGCCCAGCTTCAAGA GGTAGAGCAATAGACTCCTTGAAATATGGGGCCTGGTGCAATGGCTCATG CCTGTAATCCTAGCCCTTTGGGAGGCCAAGGTGGGAGGATCATTTGAGGC CAGGAGTTTCAGACTAGCCTGGGAAACATAGCAAGACCCTGTCTCTACAA AAAAAATTTAACAATTGGCCAGGCATGGTGGAGTACACCTGTGGTCCCAG CTACTTGGGAGGCTGAGATGGGAGGATTGCTTGAGTTAGAGGTTACAGTG AGCCATGATTGTGCCACTGCACTCCAGCCTGGGGAGCAGAACTAGGCCTT GACTCTAAAGAATTGAAATTTAAAAATATATATATAGGAGGAGCTGCAGT CATGTTGCAAAGAGTTGTGCCTACAGGGATGGGGGGAATTACTGAGGCCA TTTTTGCATAGAGTCTACCATACCTAGCAATGGCAGATCTGCTCCTGGCT CCCTTCTCTTTCTCACCCAGAGTCTCACAGAGTGTTTGGCCTTGACTTTC TCGACTCCCTGAGTCTCCTGGACCTCCCAGATTTTACCTCATTTACATGT ACTCAGTGATAATTCATCATGGGCAATGGGAGCTGCATTTTACATTCAAG TCTCTTCTGACCAAAGGCTGGCTTTCCTCAGTCTGCCTGGGAACCTGCCC TTTACTACTCTGGAGAAGATGCTGTTGTTCTGGGAAAGGAAGGACATGTC ACCCACATCTGCTCTATCACTTCTGGCCAGTAGGAAAGTGACAGTCACCC CTGGGACACCAGATTTATGTATGTGCCATTTATATTAAAACTTAAGCCAT ATGTGCATATACAAGTGTATATATGTATATATGCGTGTATGCTTGTTTTT GCAGATTTTACATAGCTAGAATGGAAATGTTAGAATGAGAGTTCAATCAG TATTTTTGTGTGTGTGTGGAAAGGAAATGCTTTTCTTTTTCCCTGAAGTG GGAAAGGAAGAGGATTAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp2 others(46): Show HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG02074.hp1 HG02129.hp1 HG02165.hp1 HG02602.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG03041.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp2 HG03654.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp2 NA18946.hp2 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18967.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18984.hp1 NA18992.hp1 NA18997.hp1 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19063.hp2 NA19065.hp2	a0001 a0003 a0010 others(2): Show a0001 a0003 a0010 a0011 a0017	a0001c0001 a0001c0015 a0003c0003 others(4): Show a0001c0001 a0001c0015 a0003c0003 a0003c0028 a0010c0011 a0011c0012 a0017c0021	a0001c0001t0001 a0001c0015t0009 a0003c0003t0002 others(4): Show a0001c0001t0001 a0001c0015t0009 a0003c0003t0002 a0003c0028t0002 a0010c0011t0007 a0011c0012t0002 a0017c0021t0002	a0001c0001t0001g0104 a0001c0015t0009g0037 a0003c0003t0002g0004 others(12): Show a0001c0001t0001g0104 a0001c0015t0009g0037 a0003c0003t0002g0004 a0003c0003t0002g0008 a0003c0003t0002g0012 a0003c0003t0002g0022 a0003c0003t0002g0059 a0003c0003t0002g0061 a0003c0028t0002g0060 a0010c0011t0007g0130 a0010c0011t0007g0131 a0010c0011t0007g0132 a0010c0011t0007g0133 a0011c0012t0002g0016 a0017c0021t0002g0057	49	400	0.1225	-1917	c.861 others(16): Show c.861-2286_861-370del	LRRN4	ENSG00000125872.9	transcript	ENST00000378858.5	protein_coding	3/4			chr20	TogoVar
C3orf20_chr3_14670141_14778036	14742874	GGAGAATA others(1908): Show GGAGAATAGCATGGGAAAGACCAGCCCACGTGATTCAATTACCTCCCCAC TGGGTCCCTCCCACAACACGTGGGAATTCTGAGAGATAAAATTCAAGTTG AGATTTCAGTGGAGACACAGCCAAACCATATAATTCCACCCGTGGCCCCC CTAAATCTCATGTCCTCACATTTCAAAATTAATCATGCCTTCCCAACAGT CCCCCAAAGTCTTAACTCATTTCAGCATTAACCCAAAAGTCCAGTCCAAA ATGTCATCTGAGACAAGGCAAGTCCCTTCCGCCTGTGAGCCTTTAAAATT GAAAGCAAGCTAGCTACTTCCTAGATACAATGGGGGTACAGGTATTGGGT AAATACAGCCATTTCAAATGGGAGAAATTGGCCAAAACAAAGGGGTTACA GGGCCCGAGGAAGTCTGAAATCCAGCGGGCCAAATTTTAAAGCTTTGAAA TGACCTCCTTTGACTCCAGGTCTCACATTCAGGTCAGGCTGATGCAAGAG GTAAGTTCCCAGGGTCTTGGGCAGCTCTGCCCCTGTGACTTTGCAGGGTA CAGCCTCCCTCCTGGCTCCTTTCATGGGCTGACGTTGAGTGGCTTTTCCA GGTGCATGGAGCAAGCTGTCACTGGATCTACCATTCTGGGGTCTGGAGGA CAATGGCCCTCTTCTCACAGCTCCACTAGGCAGTGCCCCAGTAGGGACTT TGCATGGGGGCTCTGACCCCACATTTCCCTTCTGCACTGCCCTAGCAGAG GTTCTTCATGAGGACCTCACCCCTGCAGCAAACTTTTGCCTGAGCATCCA GGCGTTTCCATACATCTGAAATCTAGGTGGAGGTTCCCAAACCTCAATTC TTCACTTCTGTGCACCCACACACTCAACTCCTTGTGGAAGCTGCCAAGGT TTGGGGCTTCCACCCTCTGAAGCCACAGCCCAAGCTATATGTTGGCCCCT TTCAGCCATGGCTGGAGCAGCTGGGACACAGGGCACCAAGCCCCTAAGCT GCACACAGCATGGGGACCCTGGGCCCAGCCCACGAAACCACTTTTTCCTC CTGGGCCTCCAGGCCTGATGGGAGGGGCTATCAGGAAGTTCTCTGATATG GCCTGGAGACATTTTTCCCATGGTCTTGGAAATTAACATTAGGCTCCTTG CTGCTTATGCAAATTTCTGCAGCCAACTTGAATTTCTCCCCAGAAAATGG GCTTTTCTTTTCTATCACATAGTCAGGCTGAAAATTTTCCAAACTTTATG CTCTGCTTCCCTTATAAAACTGAATGCCTTTAACAACACCCAGGTTACCT CTTGAATGCTTTGCTGCTTAGAAATTTCTTCCACCAGATACTCTAAATCA TCTCTCTCAAGTTCAAAGTTCCACAAATCTCTAGGGCAGGGGCAAAATGC TACCAGTCTCTTTGCTAAAACATAACAAGAGTCACCTGTGATCCAGTTCC CAACAAGTTCCTCATCTCCATCTGAGACCACCTCAGCCTGAATTTTATTG TCCATATCGCTGTCAACATTTTGGGCAAAGCCATTCAACAAGTCTCTAGG AAGTTCCAAAATTTCCCACATTTTCCTGTCTTCTTCTGAGCCCTTCAAAC TGTTCCAACCTTTGTCTGTTACCCAGTTCCAAAGTCACTTCCACATTTTC GGGTATCTTTTCAGCAATGCCCCACTCTACTGGTACCAATTTACTGTATT AGTTCGTTTTCACACTGCTGATAAAAACATACTCGAAACTGGGAATGAAA AAAGGTTAATTGGACTTACAGTTCCCCATGGCTGGGGAGGCCTTAGAATC ATGGTGGGAGGTGAAAGACTCTTCTTACATGGCGACGACAAGAGAAAATG AGGAAGAAGCAAAAGCAGAAACCCCTGATACACCCATCAGATCTCATGAG ATTTATTCACTGTCAC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG02818.hp1 others(1): Show HG01192.hp2 HG02622.hp1 HG02818.hp1 HG02965.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0003c0003t0001 a0001c0001t0003 a0003c0003t0001	a0001c0001t0003g0011 a0003c0003t0001g0187 a0003c0003t0001g0188 others(1): Show a0001c0001t0003g0011 a0003c0003t0001g0187 a0003c0003t0001g0188 a0003c0003t0001g0189	4	378	0.0106	-1915	c.194 others(21): Show c.1940+14254_1941-12515del	C3orf20	ENSG00000131379.10	transcript	ENST00000253697.8	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
BPTF_chr17_67820503_67989378	67967722	GGCACAAG others(1905): Show GGCACAAGAATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCTGAGA TCACGCCACTGCATTCCAGCCTGGACGACAGAGCGAGACTCTGTCAAAAA AAAAAAAAAGATTGGAAATGAAATAAGTAGCCATCAATAGAGGAGTAGCT ATATCAGATGGTGTCTGAGTGGAGTATTATGCAGCTTTATAAAAGAATGA ATGAAATTAATGAATGGGTTGGGGTCTCTTTGATCCTCTCATCCTTCTCC ATTTACTTCTTCTTTTTCTGAAGGAGAGTAAATTTTATGAACTAGAGAGA ATACCCTCATTTCCCAGAAAAAAAAATGGTAATAGGAGCCACGAGTAATC GTATCAACACGAATGGCTACAAATGATTTTACTAAAAAATAATTTATCTG CAAAAGAAATTAGAAAAATTAAAACATAGCTAAAACCTTCCAAAGGATCA CTTACCACTAATGAAAGAATTATGTTCCAAAAGCCAGCTAAGCATTTTTT TTAATGAGAAGAGTTTGTGTTTCATGGCAGCATGAAAGAGGGGGAAACAT GAAGTGGAAATAAATGAAAACTATCTCTGAAAAATAAACGTAATGAAGTA GTTATTATCTCTGTTCTCCTGATGTTGAAAATAGAAGGAGTTAATCATTG TACATATTTCAAATTTGGGTAGTCGCCTTTGAGAAAGTACCTGGGATGTT TACTAAAATAATAAGTTAATTATGCTGGTAATAGAAGTAATAATACAAGT TAATGGTAGAAAATTCATAAAATAAGGTCAGGTGCGGTGGCTCACGCCTG TAATACCAGCACTTTGGGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTGTTAGCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGGGCACCTGTAGTCC CAGCTACTCAGGAGGCTGAGGCAGGAGAATGACGTGAACCCGGGAGGTGG AGCTTGCAGTGAGCCAAGATTGTGCCACTGCGCTCTAGCCTGGCTGACAG AGCGAGACACGTCTCAAAAAAAAAAAAGAAAGAAAATTTAGAAAATAAAT ACTATACAAAATTAGCCCGGCGTGGTGGCACATGCCTATAATCCTAGCTG CTCGGGAGGCTGAGGCGGAGAATTGCTTGAACCTGGAAGGCAGAGGTTGC ATTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGTAACAAAAGCGAA ACTCCATCTCAAAAAAATAAAAAATAAACAAAATAAATAAAGAAGATAGG CCAGGCACAGTGGCTCATGCCTGTAACCCCAGCACTTTCACAGGCCGAGA CAAGCAGATGGCTTGAGCCCAGGAGTTCAAGACCAGCCTGGACAACATGG CAAAACCCTGTCTCTCCAAAAAAAATTTTTTTGAATCAGCCAAGGCCAGG CGCAGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGC AGATTGCTTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAA CCTCATCTCTACTACAAAAAAAAAATACAAAAATTAGCTGGGTGTGGTGG CGGGTGCCTGTACCCAGCTACTAAGGAGGCTGAGGCACAAAAATCAGTTG AACCTGAGAGGCAGAGGTTGCTGTGAGACAAGATCGCGCCACTGCACTCC AGCCTGGGCAACAGAGAAAAACTCTGTCTCCAAAAAAAAAAAAAAAAAAA AAAAGAGATAGCCATTGCTTTTGGTGTGTTCTTGTATGCATGGGTGTTAA AATTCATATCATACAGTGAATACATTTTCCTATGTAAATCTTCTTCGAAA ACCCATGATTTTAATGGGTTTTTATGGTCCATTAGTTGAATATACCTTAG CTTATTTAACCAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp1 HG02818.hp1 others(7): Show HG01891.hp1 HG02717.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG06807.hp2 NA18522.hp1	a0001 a0009 a0011 a0001 a0009 a0011	a0001c0005 a0009c0023 a0011c0025 a0001c0005 a0009c0023 a0011c0025	a0001c0005t0005 a0009c0023t0005 a0011c0025t0005 a0001c0005t0005 a0009c0023t0005 a0011c0025t0005	a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 others(7): Show a0001c0005t0005g0100 a0001c0005t0005g0101 a0001c0005t0005g0264 a0001c0005t0005g0265 a0001c0005t0005g0266 a0001c0005t0005g0267 a0001c0005t0005g0268 a0001c0005t0005g0269 a0009c0023t0005g0263 a0011c0025t0005g0039	10	272	0.0368	-1912	c.853 others(19): Show c.8539+1067_8539+2978del	BPTF	ENSG00000171634.19	transcript	ENST00000306378.11	protein_coding	26/27			chr17	TogoVar
RAP1GDS1_chr4_98256384_98448858	98366415	GGTATGTC others(1903): Show GGTATGTCTTTATCAGCAGCATGAAAACAAACTAATACAGTAAATTGGTA CCAGGAGTGGGGCACTGCTGAAAAGATACCCGAAAATGTGGAAGCGACTT TGGAACTGGGTAGTAGGAAGAGATTGGAGCAGTTTAGAGGGCTCAGAAGA AGACAGGAAAATGTAGGCAAGTTTAGACCCCTACAGGCTTGAATGGCTTT GCCCAAAATGCTGATAGTGATATGGACAATAAAGTGCAGGCTGAGGTGGT CTCAGATAGAAATGAAAAACTTGTTGGAAACTGGAGCAAAGGTGATTCTT GTTATGTTTTAGCAAAGAGACTGGCAGCATTTTGCCCCTGCCCTAGAGAT TTGTGGAACTTTGGACTTGAGAGAGATGATTTAAGGTATCTGGCAGAAGA AATTTCTAAGCAGCAAAGCATTCAAGAGGTGACTTGGGTGCTGTTAAAAG CATTCAGTTTTAAAAGGAAAACAGAGCATAAAAGTTTGGAAATATGCAGC CTGACTATGTGACAGAAAAGAAAATTCTATTTTTCTGAGGAGAATTTCAA GCCATCTGCAGAAATCTGCGTAAGGAGGAACCGAATGTTAATCCCCAAGA CAGTGGGGAAAACGTCTCCAGAGCATGTCAGAGGTCTTCACAGCAGCCCC TCCCATCACAGGCCTGGAGGCCTAGGAAGAAAAGATGGTTTTGTGGGCCG GGCCTAGGGCCTGCCTACTCTGTGCAGCCTAGGAACTTAGTACTCTGCCT TCCAGCCACTCCAGCTATGGTGAGCAGGGGCCAAGGTACAGCTCAGGCTG TGGCTTCAGAGGGTGGAAGCCCCAAGCCTTGGCAGCTTCTATGTGGTGTT GATCCTGCGAGTGCACAGAAGTCAAGAATTGAGTTTGGGAACCTCCACCT ACATTGCAGGAAATGTATGGAAACACCTGGTTGGCCAGGCAGAAGTTTGC TTCAGGGGTGGGACCCTCATGGAGAACCTCTGCTAAGGCAGTGCAGAAGG GAAATGTGGGGTTGGACCCCCGCACAGAGTCCCTACTGGGGCATCACATA ATGGAGCTGTGAGAAGAGGGCCACCATCCTCCAGACCCCAGGACGGTAGA TCCATCAACAGCTTGCACCAGGCACCTGGAAAAGCTGCAGACACTCAACA CCAGCCCATGAAAGTAACCAGGATGGGGGCTATACCCTGCAAACAAGAGG GCAGAGCTGCCCAAGACCATGGGAACCTACCTCTTGCATCAGCGTGACTT GGATGTGAGACATGGAGTCAAAAGAGATCATTTTGAAGCTTTAAGATTTG ACTGCCCTGCTGGATTTCAGACTTGCATGCAGCCTGTAGCTCCTTTGTTT TGGCCAGTGCCTCCCATTTGGAATGGTTGTGTTTATCCAATGCCTATAGC CCCATTGTATCTAGGAAGTAACTAACTTGCTTTTGATTTTACAGGTTCAT AGGCAGAAGGGATTTGCTTTGTCTCACATGAGACTTTGGACTGTGGACTT TTGAGTTAATGCTGAAATAAGAATTTGGGGGAATGTTGGGAAGGCATGAT TGGTTTTGAAATGTGAGGACATGAGATTTGGGAGGGGCCGGGGGTGGAAT GATATGATTTGGCTGTGTCCCCACCCAAATCTCATTTTTAATTCCCATGT ATTGTGGGAGGGACCCAGTGGGAGATAATTGAATCATGGGGGCAGATCTT TCCTGTGCTGTTCTCATGATAGTAAGTCTCATGAGATCTGATAGTTACTG TAAGGGGGAGTTTTCCTGCACAAGCTCTGTTTGCCTGCTGCCATCCATGT AAGATGTGACTTGCTCCTCCTTGCCTTCTGCCATGATTGTGAGGCTTCCC CTGCCATGCGGAACTATAAGACCAATTAAACCTCTTCCTTTTGTAAATTG CCTAGTCTTGT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA19064.hp1 NA19086.hp2 HG00558.hp2 NA19064.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0082 a0001c0001t0001g0137 a0001c0001t0001g0138	3	240	0.0125	-1910	c.362 others(19): Show c.362-12582_362-10673del	RAP1GDS1	ENSG00000138698.15	transcript	ENST00000408927.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr4	TogoVar
DIP2B_chr12_50499985_50753657	50751748	CGGGCGGA others(1902): Show CGGGCGGATCACCTGAGATCAGGAGTTCAAGACCAGCCTGGCCAACATGG TGAAACCCAGTCTCTACTGAAAATACAAATTCAGCTGGGCCTGGTGGTGG GCGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCACGAGAATCGCTTGG ACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCA GCCTGGGCGAAAGAGTGAGATTCCATCTCAAAAACAAAATTAAAAGAGGA GGGAGTGCTCAACAACCCAAAGGCCACAACAAAGCTGAGTAGAACAGGGA TTGGATGGCATCTGCTGGACCTGTCAACAAGGGAGTCCCTGGTAGCGTTG ATGAGAGAGTTTTAGTGCAGCTGTATGGGCAGAAGCCTGAAAACTGGTTC AGGAGAGAACTGCTGGGAGGTGAGACTGAACAGAGGCCCCTCTCCAGAGG CTTTATCTGCAACTGCACGTAGGAAGGAGAAAGAGGGGACAGTAGTTAGA AGAAGGATGTAAAATCAAGGGGGGTCTGTTTTGAATATGGAAGAAATAAA CATGTCGGAGAAAAAGCCAGAATAGAGGGAAAGTTTCTAAATATAGCAGT AAGGGACAACTGACAAAGCAAGGTCACTGTCACTGAGGAAGCTGGAGCGG ACGGACTCCAGTGAGCAGGTGGAAGGATTGGCAGCAAGGGAGGAAGCACA CTTTTTCAAATAAAACTGAGTATGAGCAAGATCCTAATAGAAGTTGCTAT TAATAAAAGTCTACCTGATGACCTCATTCACTTCTCTGAATCTCCATTCT CAGTCTCCAAAGATGAACACTCATTTCTGAGATCATTTCTATAAATAAAT AACTCCCATGGTCAGACAGACCTGACAAAGCAGAACATAGACTCTGGAAA TGATGGTGGTTACTAAAGAAGCAGGTAAGAGGGAGTTCATAGTGCATGCA TTAAAGAACAAACAAAATGAATTAGTTGTATTCAATTTCAGAATCTAGGA AAAGAATAAAACCCACTAAGAAAGTTGAAAGAAGGAAATAACAAAGACAA AAGCAGACATTAATAAAAAAGGAAGAAAACAGAAAACAGAAAAAGGTTCA ACAGAACCAGAAACTGATTTCTTACAACTATTCTAATCACAGTAAAATCC ATTTAACAAAAGGCATGCGCACATGTACACAAAAAGTAGGAAACACAAAA GGGAACATAACTACAGATACAGCCCTTGGGCTTCTATTTCAAGGGATTAT TTTTTCAGTAAATTTCCGTTTTAAATGGATAATTTTCTAAAAATTATGTA ACTTTGAAAATTCACTCAAGAAATAGAAAATCTGAATTTCACCACACTCA CAAAGCAAATAAAAATCCTATTTTCATATATAAAAGAAAAAGCCATCCAA CTAATCTTACCAACTTAGTATAAGGCAGATACCAAAGTCACACTAAGGCA GTTTTTAAAAATTCTAAATCAATCTCACTTGAGAAAAGACACAAAATGAT AAAGTCTAGGCCAGGCATGGTGGCTCACACCTATACTCTTCAGGCCAAGG TAGGAGGATGGCTTGATACCAGGAGTTGGAGACAAGGCTGGGGAACTTAA CGGGACCCTATCTCTAAGAAAAAAAAAATTAAAAATAGCTGGGCATGATA GCACGCGTCTGTGATCCCAGCTACTTAGGAGACTAAGGCGGAGGATCACT TGAGCCCAGGAGTTTGAGGCTGCAGTGAGCCATGATTGTGCAACTGTACT CCAGCCTGGGCAGCAGAATGAGATCCTGTCTCATAAAAATAAAAATCTCA GTGTTTCAGTGATTTATTGCTGTGTAACAAACCACCCCAACTTAGTGGCA TAAACCACAGCTGAGTAGAAAGTGATATAAAGTGAGCATCCTCCTCACAG TCTTGACTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0216 a0001c0002t0004g0216	1	282	0.0035	-1909	c.69 others(11): Show c.6910_*8818del	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding		3092		chr12	TogoVar
ID1_chr20_31600289_31611510	31606543	AGGGGCCT others(1902): Show AGGGGCCTGGGCTGGGGGTTGACCCCTGACCCTCTTCACAGCTGGTTCTG GGAGGAGAATTGGAGGGCTACATCTGGATTGTTGCTCTTACCGGCCTGAA TGAGTGTTTCCGGTGTCTTTAAAGTCTATTCTTCCCCCACCATCCCTGCC CATTTCCCTGCTCCCCAGTGTTATAAAACTAAATACTCCAGACCTCTGGG GTTTCTCACAGTGATCATTGGGCCATCTAGATCACCTGGGGAGGTTGTTA AAATGCAGATGAACCTGCCAGGGCCCCCTCTGTATTGGGAGTATTGAGCA AGCCATTTAAGTTGGAGAACCTGGCCGCTGGACCACCCACTTCCTTGCCA AGATGTGGATAAAGTGAGACCCAGTGGAAAGGGACTTGCTTAGGGCCATA GCTTGTGAGAGGCAGTGATTCTATCACCCCATTCCCCAGTTGGAGGTGCC TCCCCCAACAGCCTACCTCTGGGTTCCAGCAGGCAGCCCTGGGGCTCCTG GCTCATCCAAGTGGGTGAGCAAGTTGGCAGGGCCAGGCTGGGCACAGCTG CCGAGACACCTGCTCTGGGTCCAGACTCGGCCTCCTCACTCTGGCCTGGC TCTGTCGGCAGTTCAAACAAATCTCCCCCACCAACCCCGGGGCTCCTGCG TAGGATCTGAGGAGTGGACGAGTCTCATTACCCAGCTCCTGAGCAGGAAA AATATGTCATTGGCAAGGGTCTAAGAATCTTCCTGGACATGTATGTGGAT TTCTACTCAGGGGAGCATGTATGAGTGTCTACGCCTGTGTATGTAACAGG AGTAAGCTGATCTTCCCCCACTACTCCCACAGTGGGGATGGGCCAACTGT TCACATATAGGCTTGGGGGAGGGGGTGTAAGTAGGAGTATGCTTGGGGGT GTGTGCAGAAGGGCAAATGAGAGCACATGTGTTCTGCAGATAAGTGTGGA ACCTCCAGCTGTTTGGGCTTGTGTGTTCTGCCTAAATGCATTGTAGGCAT CTCTGCATGGGTCTGGCATGATGGATGGGTTTGTGTGTCTGGGGGCCACA GAACCACACTGTGGGTTTCTGTGTGTATAACTGTTCTATAGATTGGTTGG CATTCCTGGGCCTCTGCGGGTCTGGAGTGAAGGTGGGGACAGCTGTGTTT GGGCAAACCCTTCCTCAAAAGTTCACGTGGCAACTCCCTGGGCTATCGTT AGGTCCTGGGGGCACCAACCCTCAAGGATTGCTGCCAGGTAAACCCCCCT GTATTACATATGGAGAAACTGAGTCCCAGGAATGACAAAGAACTTGTCCC AGACAGGTAAGGGCTATTAATATATTTTGTCAATAAACAATAGAATAAAA TCAATAGCCCTTAGCACCAGAAGCCTGGCTCTGCTCAACTGAACCCTTTA CAAAAACGATTTCATGGATCCCTGTGGGGCTAAAGGCAAGACTGTGATCC CAGTTTTACAGCAGAAGGAACAAGCTCAGAGAGGGGATGAACAAAAAATC AAATGAAAGATTATGATTTGAGCACTAACATTAAGCCAGGTACACCCCCT CCACAGTTTATGGATTTTATCGAAGAACCCAGTACTTGCAGGCGAATTAT GTTCTTTGCTACCTCCTCCCCACCGGCTGCTGTATTACAGTACTAACCTC ACGGAATGTAGTACAGAATAAATGAAATAAAGTAAGTGTGTAAAACGTTT AGCACAGTGCTTGGCACAGAATGTTTCATAGTTATAAATTATTATTGTCG CCTGTGAGTCCTTGGAGTGTCCTCGGAGGCACACGTGTGCACGCACGCAC TCTCACGTGTGGGCCCCCGCCTGCAAGCCCACCCACGGGGTCTGAGCGGG TTCCCCCTCGCGTACTCCGACATGCAGGGCCTTTTTCCAGGGGAGGAAGG GGCTGCGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG04115.hp1 HG02698.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	296	0.0068	-1909	c.45 others(10): Show c.450_*2358del	ID1	ENSG00000125968.9	transcript	ENST00000376112.4	protein_coding		34		chr20	TogoVar
P2RX5_chr17_3668227_3701155	3685885	GGGGCCCC others(1902): Show GGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTGAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCT CCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAAC AGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCC AGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAAC GTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGC ACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCCC AGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGA ACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCC CAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAA CGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGC CCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACA CACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTCAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGT CCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGGCCCC CAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAG AACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCTCCCAGCCTGAGAACAGGAGAACACACAGCTGGGCCCCCAG GGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAAC ACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGA CCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCA CAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAAC AGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCC CCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCC TCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAG CTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGG AGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCC GCCCAGCCTCAGAACAGGAGAACACACAGCGGGACCCCCAGGGACCCTCC CAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGG GACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGA ACACACAGCT	G G	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	329	0.0030	-1909	c.981 others(16): Show c.981+218_981+2126del	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
RASA3_chr13_113972783_114137623	113986288	ACCCATTC others(1902): Show ACCCATTCATCACTCACCCATCTGTCAATCCACCCATCACTCACCCCTTT GTCCATGAACTCAACACTCATCCATCTGTCCATCCACCCATCACTCACCC ATCCGTCCATCCACCCATCACTCACCCATCCGTCCATCCACCCATTACTC ACCCATCCATCCATCCACCCATCACTGACCCACCCATCCATCCATCCACC CATCACTCACCCTTTGGTCCATGAACCTAACACTCACCCATCTGCCCATC CACCCATCACTCAACCATCTGTTAATCCACCCATCACTCGTCCATTGCTC CAGTCCACCGATCACTCACCCATCTGTCCATCACCATCACTCACCCATCT GTCCATCCACCCATCACTCAACCCTCGGTCCATCCTCTCATCACTCACCC TGTCCTCCACCCATCACTCACCCATCTGTTCATCCACCCATCACTCACCC ATCCTTCCATCCACCCATCTCTCACCCATCTGTCCATCCACCCATCACTC ACCCATCCGTCCATCCACCATCACTCACCCATCCTTCCATCCACCCATCA CTCATCCATCTGTCTATCCACCCATCACTCACCCCAGTCCATCCTCTCAT CACTCACCCTGTCCATCCATCCATCACTCACCCATCTGTCCATCCGAATT CCTGCTGTCTGTAACCACCCAGCCTATGGTACAATTTTTACGGCAGCCCA AACTCACCAAGAACTTGGTACTGAGAAGTGGCTGCTGCTGTACCTTCAAA TGTGGACTGGCTTTGGAACTGGGTGCTGGGCGAAGGCTGAAGGGGTTTGG GGGTGCAGAGCGGAAAAGGCATGGCTGCCATGAATGTCCTTAAAGGACAA TGCTGGGGGCTCGGGAGAGGAGAGCTGCAGAGAAGTCCTGTCTTAGGGGA TATCTAAGTAACCCTGAACAGAATGGTGGCATGAGCATGGGTGGCAAGGC TGTTCTAACAACATCTCAGACAGAAAGGACGGCCATGCTACTGGACCGTG GAGAAAAAGCCATCCTCGTGACAAAGTGGACCTGTGTTCATGCCCTCGTG TTCTGGGAGGGTGGAACTCGCGAGTGATGACATCAGACACGCAATTGAGG AGATTTCTAAGCAAAATGCTGTGGGAGCGGCTTGGTTCCTCCTGACCGCT GACAGCAAAATGGGGGAAGAGAGATGATTTGAAGGTGGAATTGTTGAGCA AAAAGGAACCAGAACTCAAAGGCTGGTTGAGTTAAAAGATTTGAGAATTA AAATTCCAGCCTACCCATATCTCAAAAAAAATGAGACAGCATGTTTGGAA GAGACCATTAAGCAGGTGGCTGTGTGGCTATCTGATAAGGAGACAAGTGT GGGGCTGAGCCTTGGACTTGACCAACCATCTCAGCAACAGCCGGGAGCAG AGAAGGAACCGCACCAGCAGAGGCACTGCCAGAAGAAACCAGGAAACAGA GAAAACAGGATGAAATGAAGGCAGGCTGCGGTGTCTTAAGCCCTACAAGC CAGGCCATAGAGCTATTCAGCTGTGAACATGTGCCATTCTTCAAGACGAG GGAAGAAGGACCCTGAAGTGGGTAGGGCCATCAGAATGCCACTCTCACCC AGAATGAGTCCATGGACCATGTATCAGATGCAAAATTCTCAGCTGGAATA TTGATTAAAAAATAAAACTGGCAATAACTAGAAAAAAAATCGCAATAAGG AATCTGTCCACCCAGCCATCACTCACCCATCCGTCCATCCACCCATCTGT CCATCTACCCATTACTCACCCATCCATCCCTCCACCCATCACTCACCCAT CCATCCATCCACCCATGACTCACCCATCTGTCGATCCACCCATCATCACT CACTCCTCGGTCCATCCACCCATCACTCACCCCTCAGTCCATCCATCACT CACCCATCTG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02300.hp1 HG01433.hp2 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0012 a0001c0001t0006g0013	2	66	0.0303	-1909	c.224 others(19): Show c.2245+4288_2246-4431del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	22/23			chr13	TogoVar
ADCK1_chr14_77795109_77940014	77828826	CATTTAAT others(1900): Show CATTTAATTATTTTTATCACTATGAACTCATGGATATTTATTTTATTCTA TGGGGTCTATGTCCCATATATAATCCAGACAATACTTTTCCTTTATATCC AAAACAATCATTATTTTATTGCTCAAATGGTTCCACCTTTGGCCACTGGG AGCTCTTTCAGGTTGGCTCCTGTGTCCTTTTGATATACCCCCAACCTATA TTGAGCACTGCCTTACATTCTTGTACTGAAAGATACTTCAGGCTTATCCT GTATTTTCCTTGTCCTGGAATCAATTACTTCTCCAAGGAGCCCTGGTTCC TGTTACTGGAGAATGGTATTTAGAAACCAAGTTGTAGAGGTTAGGTATAT CGTTTTGCTACTGGGGTACCATTGCTTCTAGGCCCTTCTAGGAGACAGAG TGAGGATATATATGTGTGTACACTCACTCACACATACACACACTTCTGTC TTTCTACTAAAAAACTAAGATTTTTTTTTTTTTTGAGACATGGTCTTGCC CTGTCACGACCCAGGCCAGAGTGTAGTGGTGCGATCATGGTTCACTGCAG CCTCCAACTCCTGGGCTTAAGCTATCCTCCCACTTTAGCCTCCTGAGTAG TGGACTACAGGTGTGCACCACCATGCAGGGCTAATTTTTTAAAGTATTAT TTGTAGAGACAGAGTCTCACTATGTTGCCCAAGCTGGTCTTGAACTCCTG GCCTCAAGTGATCCTGGTGCCTTGGCCTCCCAAAGTGCTGGGATTATGGG CATGAGCCACCGTATCTGGGCAAAAAACTATGAAATGATGCTTATATCTC CAATTTTAGTCCAACATCACAGAGTCCATATTAGCATTCTCCCTTTTTTA AATATCACCTCTTTCTCTGACAGTGATAAACCTGCCTCTTATCTACAATA TATTTCCTTATTTGTTTGACTCTCTTACACTCTAAAATAGTTAAGACCAC TGAAGCATTCATGAGCAGAGACAATGGTCTGAAATAGGTGAGGTTGAATG AGTTAAGTTGGTATGGGAGCTGAGTTTGGAAAGGTGGGTTGATGGAAACA TGTAGCCTTGGGGACAAGGTGATTTTGGCTGAGCGTGATGGGTGAAATTT TGGGGGTTGTCTATAAGAAAAAGATTAATTCAATGTTACTGGAGACTAGG AGAGTGAAGGGGCATAGTGGCAAATAGGATTAGAGCTAGGTAACAGAGGG ACTCAAGGCCAGGTTTTAAGCCATAGACAATAGGGAGCCATGGAAAATTC TCCAGTAAAGTTATTTATTAAGCCTTTGGTGATTGAGAATGCTTAAAGTT ATTGCATCATTAAATTTTCTTTTTTTTTTTTAGACAGGGTCTCGCTCTGT TGCCCAGGCCAGAGTGCAGTGGTGCGATCTCCGCTCACGGCAACCTCCGT TCACTGCAACCTCTGCTTCGCAGGTTCAAGCGATTCTCCCACCTCAGCCT CCCGAGTAGCTAGGACTACAGGCATGCGCCACCACACCCAAGTAATTTTT GTATTTTTTGGTACAGACAGGGTTTCCCCATCTTGACCAGGATGGTCTCG AACTCCTGACCTCAAATGATCTGCCTGCCTTGGTCTCCCAAATTGCTGGG ATTACAGGTATGAGCCACCGTGCCTCGCCAATTTTTTTTTTAATTAAATA TGAGACAGAGTCTTGTCATGTTGCCCATGCTGGTCTCAAACTCCTGGGTA CAAGTGATCCTCCCACCTCGGCCTCCTAAACTGCTGGGATTACAGGCGTG AGCTACTGTACCCAACCAGTTATTGAATTTTTTTTTTTAACACCAGTGCC ACTTGCCAAAAATATTTTTTGAGCTTCTGTGTTGGACAGTGGGTAGAAGT GTGTGAACCTGCATGTTTATATGTGTCTGTGTGCTTATGAGAGAGAAAAA GAACAGGA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG03710.hp1 others(8): Show HG01257.hp2 HG01258.hp2 HG03710.hp1 NA18943.hp2 NA18951.hp1 NA18953.hp2 NA18960.hp1 NA18966.hp1 NA19065.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0001c0001t0001 a0001c0001t0002 a0001c0016t0001	a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 others(8): Show a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0002g0042 a0001c0001t0002g0089 a0001c0001t0002g0091 a0001c0001t0002g0093 a0001c0016t0001g0090	11	284	0.0387	-1907	c.219 others(17): Show c.219+6310_219+8216del	ADCK1	ENSG00000063761.16	transcript	ENST00000238561.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RAB18_chr10_27499304_27547239	27505061	CTTTGAAA others(1900): Show CTTTGAAAATAAAATGTAATTGTTATTTCTCATTTTGCCACATCCTGTGG AGACAGAAGATTAGTGTTGTGCTTTCATTTTTTACTTTTTCCTTGGGGAA AATAATATTGACAGTGGAGTTGAGTATAAGGTAAGACATGGATCTAGGTG GATGTTGCTAGAGGGCTGTGATTTCATCCAGGTCTTGGAAGAGAGTTCTC CAGCTGATGTCATTCTTGCCATCTGATTATGAGTAGGTTATGTTCAAGGC CGTCCTGATCCTTAAACCACATTTGCACTCCAGGGGCTGTAATCAGTTTC ATATTTTAGCTATACCTTCTGATACACGTATCTTTCAAATAATTTTTTGT ATTTCATAAATTGAAATAGCCTTAATTCTACAAACTAGAATGAAAGCTCT CCTCAAATAACTTGTAAAAGTCACTTCATAAAGTCTTACTTTTTAAAAGC TTCTTCAGAATTTGAAAGCTTATGTAATATATTCTGATATTATTTACTTA TTTATTTATTTATTTTTTGAGACGGAGTCTCGCTCTGTTGCCAGGCTGGA GTGCAGTGGCGCGATCTCGGGTCACTGCAACCTCCGCCTCCCGGGTTCAA GCGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCGCAC TATCATGCCCAGCTAACTTTTGTACTGTTAGTAGAGATGGGGTTTCACCA TGTTGGCCAGGATGGTCTCCATCTTTTGACCTCGTGACCCGCCCACCTCG GCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACCAGTTTGACAACAC ATTTTCATAGTGTTCCTCATGTAATGTCCTCTGTGTCTACTGGAATGAAG GATTTGCACATACCAAGGAATAGAATAATGAAATACTATGAGTTAGCAAA CCAGCATGATTTGTCTGTGTGTGTGTAAAAGGCATGAGTAAAATTATTTA CATGATCATCTATTATTGCACATACATATTTGAGTGTTAAAAAGTTAAAC GTTGTCTTAATAGGAATTTCACAGCCTTGTGATCTTTCTTTTTCTTTTCT CCTTTTTTCCTTGAGATATCGTTCTCATTTAAGTTCAGGCATATGAAATT AGTGTTTTTGAAGTCAAGAATGGTTGGTTGTCATTTCATGTAGTTCAACC CAATACATGGTTGGTTAGCACTTTTTCTAAATGTATTGCATGGATGACAA GTTAGGGTATGTTAAAATTTTCTGGAAGGTTAACTGGAGTATATAAACAA AATTCCTCTGCTCTACCCGCTGTTTTTTTGAGACAGGGTCTTATTCTGTC ACCCAGACTGGAGTGCAGTGGCATGATCATAGCTCACTGCAGTCTCAATC TCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTTTTGAGTAGCTGGACTA TAGGCACGAGTCACCATGTCTGACTAGTGTTTTTTTATTTTTTATAGAGA GGAGGACTCACTGTGTTGCCCAGGCTGTCTCGAACTCCTGAGCTCAACAG ATCCTCCTGCCTTGACCTCCCAAAGTGCTAGGAACATAAGCATGAGCCAC CACAACCGGCCCTACTTCTAAAATTTTTTTCATAGATGGGATTTTCCTAT GTTGCCCAGGTGGTCTCCAACACACAGGCTCAAGCCAAACTCCTGCCTCA TACTCCTAAAGTGCTGGGATTACAGACACAAGGCATGACACCCAACCGAG GTTCTCCTTGTAGAGTAAGGCCTGTTAAGTGGATTTATCAGTCTCCCTAG TTCATGCCACCGAAACAAAGAAACAAATTTACCGTGGGCCTAATCTGTTT TAAACTTTTTCCTCAATACGTAGCAATGGATTATCAACTGCTCGATGCAG GATTTTGTCACTTTATTTCTTTTGTGAAAGGATTACATATAGTGAGAAAG TTGTCTTA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02071.hp2 NA18963.hp2 others(1): Show HG00558.hp1 HG02071.hp2 NA18963.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0063 a0001c0001t0003g0233 a0001c0001t0003g0234	4	408	0.0098	-1907	c.68+ others(14): Show c.68+629_68+2535del	RAB18	ENSG00000099246.18	transcript	ENST00000356940.11	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
COMMD7_chr20_32697699_32748467	32723063	TAAAGACT others(1898): Show TAAAGACTTGTGATCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTC CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTC TCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTAC TGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCA GCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGT TTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCC TAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCA GACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTG GCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCT GGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG AGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCC GGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATC ACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGAT GTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCT CTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCC GCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTG AGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGG AGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCG CCCGGCAGCCACCCTGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGTGCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATC ACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTG TGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAA AAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02486.hp2 HG02965.hp2 others(2): Show HG00733.hp2 HG02486.hp2 HG02965.hp2 HG03579.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 others(2): Show a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0341 a0001c0001t0005g0348	5	174	0.0287	-1905	c.241 others(17): Show c.241+2925_241+4829del	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
GLI2_chr2_120730868_120997653	120833027	GACATGGC others(1898): Show GACATGGCTGCCCATGGCCTCTTACCAGCCTGGATTGCTCTGGGACTCTT CCTCTCCCAGCCCACCTCCAGGCCTCCTTCATTTTATTCTCCTCGCCTTT GCCTTTCTCTCCTGTCCACCCTCCTGCATTTCCTTTCCCTGTCCTAGCTC CTTTTCTTTCTTCCTCGGCTTGTGCCTAAGGCCTCCAGGGCCTACGAGAT GGTGTTTGCCTGTTGCGGATTCTCAGGGCCAGAGGCAGTATAGCTGGGGG CCTGGCATTTGGGGAGGGTTCCTAAGGGCTGTAACCCCAGAAACATTCCC CCTGCAGAGGGCAGTCTGCTCCCTCCCTGAGCTAGGTGAGGGTCTGCAAT GGGTCCAGAACATGGGATCTATACCAAGTTCTGGGAACCAGCTCAACAGG CCTGGGCCTGCCTCTCACATCTCTGTGCCCTGGCTGTGTGACCCTGGGCA AGGCACTGCACCTCTCTGAGACCTGTTTCCCCATCTAGAGCACCCAAAGA ATCAGGCTGCCTTTGCAGGGCTGTCATGAGTGGAAGCCTCATCCCCCAAC CTTGGATGAGCAGACCCCTCAAATGTGCAGCTACCCACAGAGATTTTGAC TGTCCATGGACTTTGGTGTTCAGACATCACAACAGCCACCTCCCACCACC GAGGTCAGCTCCTGCCACGCTTCTGGTCATCAACAGGACTGCCAAGACTC CTGGGCTGGGAGCATCCTTTAGCTCCCCAAACCTGCTAGCTGGCAGGAAA CATGGAGGCCATTTAGGGACATTCAGCATTTGAACTTAAGATTTGTTTTC AGTAGAACCCACAAACCCAGTTTTAAAATTCAGTTGGAAACCAATCCACA AGTCTTCAAAGTCATCTTAGTGCAGTTCTTAAACTTGCAAAGTAACACCT AGTGGGTCTGTCATTGGCTTGTCTGGCTCAGCTGAAGTCAGAGCTCACAG CACACTGGCCTAACTCTCAGTCTGGCTTCAAAGTAACCTGTGATGCTGCT GCACAGCTCTGGGGGTGCTCAGTCCCCCGCCCCCAACCGCCACATCATCT TGCCCAGCATCCTCTGCACAATGTACAAAAATGTTTTCAAATGCAGGTTT TAGCATGATTCAGGTATGGTGAGGCCAGTAGAGCAGGGGAGAGTTGCCAT TGAAAAGATGATTTGTTATTCACACTTCCCAGTGGGAGGACACCCCACAC CATACAGGACTACTTGGGGAAGCATCAGGGTCAGTCAGTGAGGCATCCAG GGGAGAGCATGGGAAGGAGGCTTCATTGGTTTTTGTGGAAGGGCTGGCAA GGCAGGGCCAGAAGCTTAGGGTTGGCCGGTTTGAATGATTCTAGCAGTCT CTGGGCCATAGGGGCCATCGCTCTTTGTCTGAGACCTGGCCCTGGGGTGT TAGGGCAGAGGCATGTGGCCTCCCAGAGTGTAGAGCCAGGTAGGGGAGAT GGTTTGGAGTATGGACTCTGGATCAGTTGGTTTGCACACAAAAAGGCTCA CTCCTGGGTGAGTGCTTTGCTGTCACTCAGCCAGCCTTGGGAGGGGCTGC CTTCCCTCAGTCATCGAAGCCCCAGATGTGAGAACATTAGAAACACAGAA AACAAGAAAGTAGAGTTAATACCAATCATCAGGAGCTGTGAGATGGGGTC TGGGTTCTTGCAGACCCCTTTGTTCACAGACCTTTTCCTGGATTTCTTTT GCACCTGGTTTCAGATGCCTGTGTCCCCCTGCAGTGATGGCTACCGTGTC ATCCAAGTCATCACTAACTTTCTGTGGGGGGTTATGCACAAGGCATGATC CTGGTGTTGTTCTGGTTTCAAGGCTGAGAGGTCGTGTGTAAGGACCTTCT GGTGCACTCCTCATGTGGCATTTCAGGGGCTCTGCACCCCATGTTCTCTG GGCTAA	G G	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0085 a0001c0021t0004g0085	1	160	0.0063	-1905	c.148 others(19): Show c.148+35562_148+37466del	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
NPIPB8_chr16_28633065_28663744	28633672	TTTTTTTT others(1898): Show TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGT GCAGTGGCGCAATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCCCACCA CCACGCCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTTACCAT GTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCGCCCACCTTAG CCTCCCAAAGTGAAACTTTTCTTTAAAATAGAGATGGGATCTTGCTGTAT TGCCCAGGCTCATCTCAAACTCCTTGCCTTAAGTGGTCCTCCCACCTCAG CCTCCCAAAGTGCTGGGATTACAAGCGTGAACCATTACATCCAAGTGAAA CTTCTTGAGATAGTTACATAATTTTTAAATCTGCTGGTGTAGAATTTAAT AAAGTGTAGAACTGAATAAATATTAAATATTAGATCAAATTTCTCATGTT TACCTTAAAGTATAAAGATTTATCTTAAAGCACTGATTTTCACAAAATAA CATCAGTGTGAAATTGGAAAAGAAGCCAAATATTTTATTTCATGTATCTG GGAAATGAGGGGCTTTAGTCAACTGAATCTGCCCAAAACTAAAAAGCATT CATTAAAAAGTACTTAACTCAGAAATTATAAAAATAGAAGACATCAATAA AATACATTCTACACAGAATACGCCAATCATAGACTACTCTTTTTTGATAA TAAAAAACGTACTTACTGAGCCAGTTGTGGTGGCTCATGCCTATAATCCC AGCACCTTGGAAGGCCAATGAGAGTGGATCAGTTGAGGCCAGGAGTTTGA GACCAGCCTGGCCAACATGGCGAAACGCCGTCTCTACTAAGAATACAAAA ATGAGCCGGGCATGGTGGCAATCACCTGTAATCCCAGGTACTTTGAAGGA TGAGGCAGGATAATTGTTTGAACTCAGGAGGTGGAGATTGCAGTGAGTCG AAATCATGCCACTGCACTCCATCCTGGGTGACAGAGTGAGTCTCTGTCTC AAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAAAGTCAGTTGCAGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATTACAAG GTCAGGAGATCAAGGCCATCCTGGCCAACATGGTGAAACCTCTCTACTAA AAATGCAAAAATTAGGCTGGGCGCGGTGGCTCACATCTGTAATCCCAGCA CTTTGGGAGGCGGAGGTGGTCAGGAGATTGAGACCATCCTGGCTAACACA GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGG CAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCA TGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGATCCCACCACTGCACT CCAGCTTAGGCGACAGAGCCAGACTGTGTCTCAAAAACAGGAAAGAAAAC AAAAGAAAATTTGGACTATTGCCAATTACAAATATTTTTAGAGAAGATTC GAAACAATAACTGTGGATGATGGAAACAATAGTTATGATAAAAGTCTGAT GAAACTTCCCAGTTCACAAGGAAATTTAATTACTTATGTGCGGCATTTTA AGACAGTAATCAGAATCATGACTGACAGCATCATATCAGGACCACCAGAC TTTTATAAATTTCATGTAATCTTCAGAAATAATTAATAACTTTTTTTTTT AGATAGATTTTACCTCTGTCACCCAGGCGGGAGTGCAGTGGCATGATCTC GACTCACTGCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGTCTCAG CCTCCCAAGTAGCTGAGACTACAGACATGTGCCACTAGGCATGGCTAATT TTTGTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	350	0.0029	-1905	c.-45 others(11): Show c.-4516_-2612del	NPIPB8	ENSG00000255524.8	transcript	ENST00000683297.1	protein_coding		4392		chr16	TogoVar
LASP1NB_chr17_38920614_38934381	38926899	CTCTCCAG others(1897): Show CTCTCCAGCCAGGAAGAACTTGTCATTTGAGTTTTTAAAATGTATCATTT CTTCCCCACCTCAAACCACTTGTATCCCAGTTTCTCATTTAAAGGGAGAA ATGGTTATATAGTCCTCTCTTTGCACCTGATTGAATTATAAATGATAGAA ACAAGATGGCTATACTTATTTAGGAAAAATCTCTTACCCCAAAATGAGTG TGTGTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTTTTAATCAA AGATCTTTTCTGGAAAAAACTTTCCACATAGTTCTCTGACCCATTAGAGT TGAAGAAACTATGTATTTTGGGATTCAGAGTAGAATTGGCCTGCAAATCT GGGGTGTTTATTCCTTTTACAAGTCTATCATAATTGTTCTACATTTAATT TTCCTTTCTTGCTTAAAAGTAAACAAGGAGAGTCAGGAGTGGTGGCTCAT GCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCGGATGGATCACCTGAGG TCAGGAGTTGGAGACCAGCCTGGCCAACACGGTGAAACCCCGTCTCTACT AAAAATACAAAAATTAGTCAGGCACAGTAGTGCGCGCCTGTAGTCCCAGC TACCCGGGAGGCTGAGGCCGAAGAATTGCTTGAACCCGGGAGGCAGAGGT TGTAGTGAGCCGACATCATGTCACTGCACTCCAGCCTGGGAGACATAGCG AGATTCCGTCTCAAATAAAATAAAATAAATAAATAAATAAACAAGGAGAA AGATTAGTTTTTAGTAATAACATTGTGTCCAATTTCCATGTTTTAAAACA AAAATTGAGGCATTATATGTCACAACTGAAATGGAAAAGTTGTGTTTAAA AATTATGGACAAGGCCGGGCACGGTGGCTCACGCCTGGAATCCCAGCACT TTGGGAGGCTCAGGCAGGAGGATCACTTGAGGTCGGGAGTTTGAGACCAG TCTGACCAACGTGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGC TGGTGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCAC ACCTCTGCACTCCAGCCTAGGTGACACAGCAAGACCCCATCTCAAAAAAA AATAATAATAAAAACATAAAAATTATGGACAAGAAAAAACACTATTCTGG AAGCTTTGTTTTGGCAACAAATTATATGACCTGACCTTTCATAAGTCATT TAAACTTTAGGGCTAGGCCAGGTGCTATGGCGCATGCCTATAATCCCAGC ATTTAGGGAAGTAGAAGCAGGAGGATAGCTTGAGGCCAAGAATTCCAGAC CAGCCCAGGCAATATAGCGAGACCCCCGTCTCCACAAAAATAAAAAATAA AATAAAAATAAATAAATACATAAACTTTAGGTCCTCTGTTTATTCTGTCA AATGAAAGTGTTAGGCCAAGGTCGCATTATCTCTTTGGAAACTACATCGA GAACAGAATTCCCATGGAACGAACTCTTAATAGTTCACTGGTAGTCCCCC TTTTCTGAATATTCTTCCCAACATGACACTTTATAACAAAAATTTAACTG CAAAACTCTTTTTTTTTCACCAACAGCCAGATTTTGATGAGAAAATGGCC ATATTTATTTACTCCAAATATATATTATGTCTGTGATAATTTGCCTAAAC TGTTTAAGGAATATTAACAAGTATGATACTGCATCGTGGTATGTAGCAAA AAGATAGGTAATCTGACATACATGGATGCAAGCAGCATGGCTGTGAACCT GGATATATTTAGAAATGATCTTCAGTGGAGTCCTTGATGTGACATTTTCC ACTAAAACATTCTTCTAACTCTGGTATATCTTAGTGTTTCGAACTATAAT TTCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0001 a0001c0001t0011g0001	1	420	0.0024	-1904	c.60 others(10): Show c.607_*2510del	LASP1NB	ENSG00000263874.3	transcript	ENST00000583195.3	protein_coding	2/2	1132	INFO_REALIGN_3_PRIME	chr17	TogoVar
DLGAP2_chr8_732628_1713476	1015535	GTGACCAG others(1896): Show GTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCG CCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCC ACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACA GACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGT GTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTG TGTGACCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACG ATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGT GACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATG CCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCA GGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGTGCCTCC ACTGTGTGTATGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAG GACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCA CTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGAC AGACGACGCCTCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTG TGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACA GACGATGCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGT GTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGG CGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGAG ACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGC CTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGTGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCCTC CACTGTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTGACCAGG ACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTG TGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACA GACGACGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGT GTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGAC GATGCCTCCACTGTGTGTGACCAGGACAGACGATGCCTCCACTGTGTGTG TGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGTGA CCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGACGCC TCCACTGTGTGTGTGACCGGGACAGACGGCGCCTCCACTGTGTGTGTGAC CAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGACAGACGATGCCT CCACTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGA CAGACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGATGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	39	0.0256	-1903	c.73+ others(19): Show c.73+107585_73+109487del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
COMMD7_chr20_32697699_32748467	32723063	TAAAGACT others(1895): Show TAAAGACTTGTGATCCTCTCCCTCTCCCTCTCCCTCTCCGTCTCCCTCTC CCTCTCCCTCTCCCTCCCTCTCCGTCTCCGTCTCCGTCTCCGTCTCCCTC TCCCTCTCCCCACGGTCTCCCTCTCATGCGGAGCCGAAGCTGGACTGTAC TGCTGCCATCTCGGCTCACTGCAACCTCCCTGCCTGATTCTCCTGCCTCA GCCTGCCGAGTGCCTGCGATTGCAGGCACGCGCCGCCACGCCTGACTGGT TTTGGTGGAGACGGGGTTTCGCTGTGTTGGCCGGGCCGGTCTCCAGCCCC TAACCGCGAGTGATCCGCCAACCTCGGCCTCCCGAGGTGCCGGGATTGCA GACGGAGTCTGGTTCACTCAGTGCTCAATGGTGCCCAGGCTGGAGTGCAG TGGCGTGATCTCGGCTCACTACAACCTCCACCTCCCAGCCGCCTGCCTTG GCCTCCCAAAGTGCCGAGATTGCAGCCTCTGCCCGGCCGCCACCCCGTCT GGGAAGTGAGGAGTGTCTCTGCCTGGCCGCCCATCGTCTGGGATGTGAGG AGCCCCTCTGCCCGGCCGCCCAGTCTGGGAAGTGAGGAGCGTCTCCGCCC GGCCGCCATCCCATCTAGGAAGTGAGGAGCGCCTCTTCCCAGCCGCCATC ACATCTAGGAAGTGAGGAGCGTCTCTGCCCGGCCGCCCATCGTCTGAGAT GTGGGGAGCGCCTCTGCCCCACCGCCCCATCTGGGATGTGAGGAGCGCCT CTGCCCGGCCGAGACCCCGTCTGGGAGGTGAGGAGCGTCTCTGCCCGGCC GCCCCGTCTGAGAAGTGAGGAGACCCTCTGCCTGGCAACCACCCCGTCTG AGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAGG AGCCTCTCCGCCCAGCAGCCACCCCATCTGGGAAGTGAGGAGCATCTCCG CCCGGCAGCCACCCTGTCCGGGAGGGAGGTGAGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCC CGGCCAGCCGTGCCATCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCGGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCGACCGGCCAGCCGCCCCGTCCGGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGCCCAGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCGGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCTCTGAA ACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGAT GTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCATC ACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCCG CAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATCT GCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAAATCCCCCTCTG TGAGAAACACCCAAGAATTATCAATAAAAAAATAAATTTAAAAAAAAAAA AAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00408.hp1 others(138): Show HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00673.hp2 HG00733.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19088.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 others(128): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0280 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0002g0083 a0001c0001t0002g0263 a0001c0001t0002g0350 a0001c0001t0003g0008 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0358 a0001c0001t0004g0024 a0001c0001t0004g0285 a0001c0001t0004g0287 a0002c0002t0001g0082	141	310	0.4548	-1902	c.241 others(17): Show c.241+2928_241+4829del	COMMD7	ENSG00000149600.12	transcript	ENST00000278980.11	protein_coding	3/8			chr20	TogoVar
MTOR_chr1_11101535_11267551	11170292	GTACTGGG others(1895): Show GTACTGGGCTTTGTGCCCAATCACATGGGGCTGGGTAAACTGTACTAATA ATATTACTAGGTATAGATTTGGGATTATCTAGTTCCTTGAAGCCAAATAA AGATTTTGGAAGCATAAGAAAACAGGAAAAAAGAAAGCCAGTGGCTGGGC ACAGTGGTTCATGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGCAGGAG GATTGCTTGAGCTCAGGAGTTTTAAACCAGCCTGGGCAACACAGTGAGAC CCCATCTCTATTAAAGAAAAATAATAATAAAAAAAAAGAAAGCCAGTATA TAGTCTATATATTTTAATGATATGGTCCCTGTATTATTACAATGGATTCT TGGGATGAAGGCCATCTTTATTTCAATCCTATCCTTTTCTTTTTTTTTTT TCTTTTTTTTGAGAGATGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGC AGTGGTGTGATCTCAGTTCACTGCAACCCCTGCCTCCCAGGTTTAAGTGA TTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCGCACACCACC ACACCACACACGCCGGGCGGCCTTGGTAGGAGTAAAAAATTGTTCTGATA AGGAAGATAAAGTGTTCTTCACCTGAACCAGAAGAAACTAACTCTAAGAA ACGACATAAAAAACTGAGGCCGAGGTGGGTGGATCATGAGGTCAGGAGTT CGAGACCAGTCTGGCCAATCCAGTGAAACCCCGTCTCTACTAAAAATACA AAAATTAGCTGGGCGTGGTGGCGGGCACCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAG CCAAGATTATGCCACTGCACTCCAGCCTGGGCGACAGAGCTAGACTCTAT CTCAAAAAAAAAAAAAAGAAAAAGAAAATCCAGGAGTTCTAACAACTGTC TTCAATCTTGTGCTCTGGAAAACATTCTATTTTCTTTTCTTCTTTCTTTC TTTTTTAAAGAGACAGGGTCTTGCTCTGTTATCCAGGCTGAAGTTCAGTG GCACAATCATGGCTCACTGCAGCCTCAATCTCCTGGCTCAAGCAATCCTC TGGCCTCGGCCTCCCAAACTGCTGGGATGACAGGTGTGAGGCACTGCACC TGGCCTCCAGCCTATTTTTAAATTTTAACATTACCGAAGCTCGATTCATT CCGAGGAGAAAACAACAAAAACAAAAACAAATACAAGTCTTTTCCTAATC CACTCTCCCAATTATCACAGTGCATAAAAAATGAGTTTTACAACAAACTG ATCAAAATTAGGAAGTAGTGATTAGGGACCTCGAAAGAGAAACAAATTTT ACCTTAATACAGCTACAGCCTTGATATACCACCTCTAAGGACTGACCAGC ATAGCTTTGCAAATTAAAAATGTAAAAACATATGGCCTTAACTCCTTTAA GAGAGAGTCCAGGCCAGGCACGGTGGCTCATGCCTGTAATTCCAGAGCTT TGGGAGGCCAAGGTAGGAGGATAACCTGAAGTCAGTAGTTTGAGACCAGG CTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCC AGGTGTTGTGGCACATGCTTGTAATCCCAGCTACTGGGAAGGCTGAGGCA GGAGAATCACTTGAACCTGGGAAGGTTGCAGTGAGCCAAGATTGTGCCAC TGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAA AAAAAAGAGAGAGGGAGAGTCCTATGACTTATCTGTATAATATTTCCCAT CTGAATGTGTGGAGGCAGGTCAGGCTGCAGACAGAGCTCAGTGGGCAGGA AAGAGGGCAACAGGCTGGGCTCACTGGGGGACCAGGCCTTTACCAGTGGC CAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp1 HG06807.hp2 HG02615.hp2 HG03209.hp1 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0012 a0005c0027 a0001c0012 a0005c0027	a0001c0012t0004 a0005c0027t0004 a0001c0012t0004 a0005c0027t0004	a0001c0012t0004g0001 a0001c0012t0004g0002 a0005c0027t0004g0003 a0001c0012t0004g0001 a0001c0012t0004g0002 a0005c0027t0004g0003	3	254	0.0118	-1902	c.425 others(19): Show c.4254-4677_4254-2776del	MTOR	ENSG00000198793.14	transcript	ENST00000361445.9	protein_coding	28/57			chr1	TogoVar
SH3KBP1_chrX_19528977_19892600	19811183	TTGTGGAA others(1895): Show TTGTGGAAGCAAGAAAAAAACAAAAAAAGATTGAATCATGAATATAAGCC AGGCTGTTAAACAGCAATTACAGAACGACAGCTACCATCCTGATTCCTTT CATATCTGTGCCCATGAGGGTCCCGATATTACAATATGACTACAGGCTTA GCAGTTAGAACTTGATAGCGTTTATGGTTTTAAACAGCTGTAATGTATCT TTTACCAATAATCTGTCAGCCTATTGATTTTGGATGTTGTCTCTTAGATA AAATCTTATCTGGTCAGAAAGCAAATCCCACTGGACCGAAGCCTTCGGCA GCAGGCATCACACTCTTGACAAGGTACTCTCCAAACATGTCCAGCTTTGC TAAGAATATGTTCACATGTTAATACTTCATCAATTCCAATTATGTTGTAG TATAATCACAACTAAAATGTACATCTAATAAATATTTTAAACATGGTTTT AATGTTAATTTACTTTTTCTTCCATGATACGCAAAAACAGTCCCTCTTTG GTTTTGACTTGGCCCCCACTGCGCCGATACTACCTACCTGCACTAGCTAT CTCAGACCTTGACCATGGCTTCGTTTGACAGCCAGGAAAAGTACAACCCC AAGAGCTTCAGCATGGCCACCAGTGGCACAGCTGGTTCACAGCACAGCCA CAACTGGAACTGGAACCAACTTCACAACCTTTACTGGCAACCAGTGAGTT GTGGCCTCCCTAGAAGAAAACTTCAGTGTAAAGAGGACATAGTCACCAGG GCCTCCCCCACACCTCCTGGGAACTGAGCATGGCTCTTAGGAAAGCATTG GCACAGTTCCTCCCGCTCTGGGTCTCCATCTGGGACCACCTGCCTCTAGA AACCCAGGGCAGGATGTGGTTTGACTCGGACAACTTCTCAGCTTACAAAC TCAGGCAAGCCCACTTTGTTTTTCACCCTGACTCCCAGACACATGATATC ATCTCTTTGTTAGTCTTCATGAGAAAATCCTGGTGGTCCCAGAGGAAGTA TGACAATAATGAAAAGCTCTCCTTCATGACGAGCAAAATAGACAGCTAAG AGCAAAAACGGGCTGACTTCATACACCTCATTCCACAAATAACTGTGTGT TTGTGTGACTTTTGTGCTAGTACATGTTGTGACTACACATTAAAGAGACT TTCACATCTTCACCTTCACTCTCCCTGAACTCTCCTCAAGAATTTATCTC ATCTCCCTCAGTGGCATAAAGATGATGAAATTTACCCCTTAGCCTGCGAG TGGGGCAATATACTATTTCATATCCCTTTGTGAGTTAAGAAGCTAAAGTG AAACAAAATGTCTTCTGGGTAGCCCTAAAGATGTACTGCCCATATGTTCC TTCAAGAAAGAACTTGGCCAGCATAGTGGCTCACACCTGTAATCCCAGCA CATTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCCAGGAGTTTGAGACC AGCCTGGGCAACATAGTGAGACCCCGTCTCTACAAAAAAAAAAAAAAAAA AAATAGCTGGGGCTGGGCATGGTGGCTCATACCTGTAATCCCAGCACATT GGGAAGACAAGGTGGGCGGATCACCTGAGCTCAGGAATTCAAGACCAGCT TGGGCAACATGGTGAAACCTTGTCTCTACAAACAATACAAAAATTAGCCA GGTGTGTTAGTGCACGCCTGTAGTCCCAGATACTCAGGAGGCTGAGGAAG GAGAATCGCTTGAGCCCGGGAGGCGGAGGTTGCTGTGAGCCAAAATCGCA CCACTGCACTCCAGCCTGGGTGAAAGAGAGAGACTCTGTCTCAAAAGACA ACAACAAAAAATTAGCTAGATGTGGTGGTACGCGCCTGTAGTCCCAACTA CTCAGGAGGCTGAGGTGGGAGGATCACTTGAGCCTTGGAGGTCGAGGCTG CAG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0003 a0001c0001t0006g0003	1	202	0.0050	-1902	c.162 others(19): Show c.162+23040_162+24941del	SH3KBP1	ENSG00000147010.19	transcript	ENST00000397821.8	protein_coding	2/17			chrX	TogoVar
D2HGDH_chr2_241729630_241773811	241765474	CGGGCTGA others(1894): Show CGGGCTGAGGGATTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGTGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGGTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAACTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCC CG	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	410	0.0024	-1901	c.130 others(18): Show c.1307-2233_1307-333del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765543	GAGGGGGG others(1894): Show GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAACTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAA GA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0069 a0001c0001t0022g0069	1	410	0.0024	-1901	c.130 others(18): Show c.1307-2166_1307-266del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9			chr2	TogoVar
TRMT61B_chr2_28844821_28875309	28862506	GTATTTTT others(1894): Show GTATTTTTGGTAGAGACAGGGTTTCGCCATGTTGCCAGACTGGTCTCAAA CTCGTGAGCTCAAGCAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGACGTGAGCCACCATGCTCAGCCTTTTAATGTAATTTTAACTTGCA TTTCTTTTATTATGGATGAGGTTGAGTCTTTCATATATTTAAAAGGTATT TGTGGCCGGATACAGTGGCTCGCCACAGTAATCCCAGCACTTTGGGAGGG CAAGGCAGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAA CATGGTGAAACCCTGTCTCTACCAAAAAATAAAAAAAAAAAATTAAAGGT ATTTGTATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGA AGAACTTTTAAACTAATTAGCACAGTAATACTGCAATTCCAGAGAGGAGT ACTACATTTTAACTTAAGGCAATTAACTTTCCACCCACCTCTATCTGAAG TGATTTGATACCATTTGGAGATTATCCCAGATCAATCAGTTTACAGTTTA CTAATGAAGTTTAAATTCCAAGGTATCTTTTGAAATGTAACTCCAACTGC AAGTTATCAGGTTCTCAGGAGATAAAAATTAATTTTAATAGTAACATAAG CTGGGCGTGGTGCCCCATGCCTGTAATCCCAGCACTTTGGGAGGCTTAGG CAAGATTGCTTGAGGCCAGGAGTTCAAGACCAGCCTGGGCAACAGTGAGA CCCAGTCTCTACAAAAACTTTAAAAATTAGCCAGCTTTGGTGGTATGTGC CTATTGTCCCACCTACTTGGGAGGCTGGGACGACAGGATCACTTGAGTTC CGAGGGTCAAGGCTGTAGTGAGCCACGATCATACCACTGCATTCCAAACT GGGGAACAGAGTGAGAACCCGCCTCAAAAAAAAAAAAAAAGTAACATAAA CAACTGGAAAAGAAAATATGGAGAAAAATATCCATCACATAGGTAAATAG CAATAAGTTCTTGCACATTTATAGTTTAGGATTATTCAAGCCATGACACT CTTCTGATACTATATATTTTAGAAATATAGGCACTTATCTGTTCTCACCA ATTTTTATAAATCCACTTTGTCAAATGAAACCGTGCAGTTAGGAATTTGT CATAGATGATGAGAAAATGACTGCCTTTAACTATGTACAGAAAAGTCAAA CAAAAGATTGATTGAGGAGCCCAGAATGAATTTACCGGCTTAGTATAATC TAGATAATATTCATATGTGAAGACATTAGGTCAAAGAACAAAAGGTGTGA GTTTAATTTCAGCATATTTCTATCTGTAATCTTTATAAAATCTACTCAAA GAAAGTACTGTGACTATTCAGCAGTCTAGTATTATGTAGGGAAGAGAACA CTGCACAGACAGACCACCCAAAGCAACCCTGACACTCAGAGAAATTAGGT AGGCAAAGAGGTACTAATCAACTAGCATAAAAGTAACTAGAAATTAAGTG GTAGGAACATGAAAAAATATATATGTTTAATATACACCTCTTGATTTTTG ATCAGACACCCACCTTCAAGCAGTACTTTTACCAACTGACAATTTTTAGA GACTTTCTGGAAAAAAAAAAGATAATTCTTCATGATCTAGCTTTTTACTT AATAGCTCTGTACTATGATTAATTTCTTTATGAACACCTACTATAATTCT TTGGCCCTAACGATATATAACTCTCCCCCCAACAGCTGACAACGTCCTTC CATATTCCCTCAGGCTAAGTATTCACCTGGCACTAGTATTCAACAATAAC ATGACAAGTACACAAGGAGGTTCCAAGCAGCACTATTTGTAATATCCAAC TCAAATGTCTATCAACAGTAAAATAGGTAAATTGTGATTTAAATAGAGAG TA	G G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	358	0.0028	-1901	c.802 others(16): Show c.802+610_803-1199del	TRMT61B	ENSG00000171103.11	transcript	ENST00000306108.10	protein_coding	2/6			chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765405	CTTGGGGA others(1893): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02630.hp1 others(1): Show HG02486.hp2 HG02615.hp2 HG02630.hp1 HG03225.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0002 a0003c0003 a0007c0007 a0002c0002 a0003c0003 a0007c0007	a0002c0002t0007 a0003c0003t0007 a0007c0007t0007 a0002c0002t0007 a0003c0003t0007 a0007c0007t0007	a0002c0002t0007g0076 a0002c0002t0007g0168 a0003c0003t0007g0351 others(1): Show a0002c0002t0007g0076 a0002c0002t0007g0168 a0003c0003t0007g0351 a0007c0007t0007g0347	4	361	0.0111	-1900	c.130 others(18): Show c.1307-2255_1307-356del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
D2HGDH_chr2_241729630_241773811	241765455	CTTGGGGA others(1893): Show CTTGGGGAGATGGGAGCCCCGGGCTGAGGGATTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGTGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GGTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA CTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA GTTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAA G	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp1 others(14): Show HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02257.hp1 HG02572.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG06807.hp1 NA19030.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0005 a0007c0007 a0008c0011	a0001c0001t0007 a0002c0002t0007 a0003c0003t0021 others(4): Show a0001c0001t0007 a0002c0002t0007 a0003c0003t0021 a0004c0005t0007 a0007c0007t0007 a0008c0011t0007 a0008c0011t0021	a0001c0001t0007g0157 a0001c0001t0007g0212 a0001c0001t0007g0213 others(12): Show a0001c0001t0007g0157 a0001c0001t0007g0212 a0001c0001t0007g0213 a0002c0002t0007g0002 a0002c0002t0007g0005 a0002c0002t0007g0098 a0002c0002t0007g0130 a0002c0002t0007g0136 a0002c0002t0007g0137 a0003c0003t0021g0356 a0004c0005t0007g0074 a0007c0007t0007g0337 a0007c0007t0007g0346 a0008c0011t0007g0033 a0008c0011t0021g0036	17	312	0.0545	-1900	c.130 others(18): Show c.1307-2224_1307-325del	D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar

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