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
SART1_chr11_65956734_65985137	65971576	T T	TGCTGAGG others(798): Show TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGGTGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CAGGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGAT TCATGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02056.hp1 NA18939.hp1 HG00673.hp2 HG02056.hp1 NA18939.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0155 a0002c0001t0001g0087 a0002c0001t0001g0088 a0002c0001t0001g0155	3	306	0.0098	805	c.157 others(824): Show c.1572+3760_1572+3761insGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGGTGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCT GAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGG ATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGG ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGA GGAGGGGGATGGTGGGATTCATGAGCTGA	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(798): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAACAGGTGCTAGGACACTGTGGGGACGTCCCAGATGCCAGGGG CAGTGGAGACAGGAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGG AGGAGGAGGAGGAGGAACAGGTGCTAAGACACTGTGGGGACGTCCCAGAT GCCAGGGGCAGTGGAGACAGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAATA GGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACA GGAGGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0085 a0002c0003t0001g0085	1	2	0.5000	805	c.-12 others(824): Show c.-127+9348_-127+9349insTCCTCCTGTGCCTCCTCCTCCTGCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTGTTCCT CCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCT CCTCCTCCTGCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGT GTCTTAGCACCTGTTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTTCTCCTC CTCTTCCTCCTCCTCCTCCTGTCTCCACTGCCCCTGGCATCTGGGACGTC CCCACAGTGTCCTAGCACCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCT CCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTC TCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SBNO2_chr19_1102638_1179268	1164823	G G	GGAGGAGG others(798): Show GGAGGAGGAGCAGGAGGAGGAGGAGGAGGAGAAACAGGTGCTAGGACACT GTGGGGACGTCCCAGATGCCGGGGCAGTGGAGACAGGAGGAGGAGGAGGA ACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAAGAACAGGAGGAGG AGGAGGAAGAGGAAGAACAGGAGGACGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGTGCTA GGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAG GAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAGGAAC AGGTGCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGAC AGCAGGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGG AGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAACAGGAGGAG GAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGAGGAAGCACA GGAGGA	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0175	1	2	0.5000	805	c.-12 others(824): Show c.-127+9348_-127+9349insTCCTCCTGTGCTTCCTCCTCCTCCTG TGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCC TGTTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTCCTA TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTTCTCCTCCTCTTCCTCCTCCTCCTGCTGTCTCCACTGCCCCTGGCAT CTGGGACGTCCCCACAGTGTCTTAGCACCTGTTCCTCCTCCTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTC CTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGTCTCCACTGCC CCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTG TTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCGTCCTCCTGTTCTTCCTCTTCCTCCTCCTCCTCCTGTTCTTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTGTCT CCACTGCCCCGGCATCTGGGACGTCCCCACAGTGTCCTAGCACCTGTTTC TCCTCCTCCTCCTCCTCCTGCTCCTCCTC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
STAM_chr10_17639151_17721824	17670782	T T	TAAGAAAC others(798): Show TAAGAAACGCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGG CCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCAGGAGGG AGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCACCACCCCGTCTGGGAGGTGTGCCCAACAGCTCATTGAGAACG GGCCAGGATGACAATGGCAGCTTTGTGGAATAGAAAGGCGGGAAAGGTGG GGAAAAGATTGAGAAATCGGATGGTTGCCGTGTCTGTGTAGAAAGAAGTA GACATGGGAGACTTTTCATTTTGTTCTGCACTAAGAAAAATTCCTCTGCC TTGGGAATCCTGTTGATCTGTGACCTTACCCCCAACCCTGTGCTCCCTGA AACATGTGCTGTGTCCACTCAGGGTTAAATGGATTAAGGGCGGTGCAAGA TGTGCTTTGTTAAACAGATGCTTGAAGGCAGCATGCTCGTTAAGAGTCAT CACCAATCCCTAATCTCAAGTAATCAGGGACACAAACACTGCGGAAGGCC GCAGGGTCCTCTGCCTAGGAAAACCAGAGACCTTTGTTCACTTGTTTATC TGCTGACCTTCCCTCCACTATTGTCCCATGACCCTGCCAGATCCCCCTCT GTGAGAAACACCCAAGAATTATCAATAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0386 a0001c0001t0015g0386	1	393	0.0025	805	c.125 others(824): Show c.125+10240_125+10241insCGCCTCCGGGAGGGAGGTGGGGGGGG TCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGC CGCCCCGTCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCACCACCCCGTCTGGGAGGTGTGCCCA ACAGCTCATTGAGAACGGGCCAGGATGACAATGGCAGCTTTGTGGAATAG AAAGGCGGGAAAGGTGGGGAAAAGATTGAGAAATCGGATGGTTGCCGTGT CTGTGTAGAAAGAAGTAGACATGGGAGACTTTTCATTTTGTTCTGCACTA AGAAAAATTCCTCTGCCTTGGGAATCCTGTTGATCTGTGACCTTACCCCC AACCCTGTGCTCCCTGAAACATGTGCTGTGTCCACTCAGGGTTAAATGGA TTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATGCTTGAAGGCAGCA TGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAGTAATCAGGGACAC AAACACTGCGGAAGGCCGCAGGGTCCTCTGCCTAGGAAAACCAGAGACCT TTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTATTGTCCCATGACC CTGCCAGATCCCCCTCTGTGAGAAACACCCAAGAATTATCAATAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAGAAA	STAM	ENSG00000136738.15	transcript	ENST00000377524.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(798): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGAG GGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGAAAGGAAGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAG GGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGG GGGGGAGGGAAAGGAAGGGAGGGAGGCGAGGAAAGGAAGGAGGGAGGGAG GGAGGAAAGGAAGGAGGAGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGGGGGAGGA AAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGAGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAAG GGAGGGAGGAAAGGAAGGAGGGAGGGGGGGGAGGAAAGGAAGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGG AGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAG GAAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGG GGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0135 a0001c0001t0059g0135	1	3	0.3333	805	c.597 others(822): Show c.597+1546_597+1547insTCCCCCCCCTCCCTCCTTCCTTTCCTCC CTCCTTCCTTTCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTC CTCCCTCCTTCCTTTCCTCCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC CCCCCTCCCTCCTTCCTTTCCTCCCTCCCTTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCTCCCCCT CCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCCTCC TTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTT CCTTTCCTCCTCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CGCCTCCCTCCCTTCCTTTCCCTCCCCCCCCTCCCTCCTTCCTTTCCTCC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCC TTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCTTCCTTTCCTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(798): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGG AGGAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAA GGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGG GAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGA GGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGG GAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	3	0.3333	805	c.597 others(822): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCT TCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCC TCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTC CCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTC CCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCTTTCCTTTCCTCCCTCC TTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTT CCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCC TCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THNSL2_chr2_88165346_88191627	88181164	T T	TCTCTCTC others(798): Show TCTCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCCTCTCTCTCCTCTGAT CTAGATCTCGACTCGAGCTCCTCTCCTGCTCTCTCTCATCCTCTCTCTCT CCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCTC TCCCTCCTCTCTCTCCTCTCTCCTCTCTCTCCTCTCTCTCTCTACTCCTC TCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCTTCCTCTCTCTCTCTCCT CTCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTC TCTCCTCTCATCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCCTCTCTCT CCTCTCTCTCTCCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTC CTCTCTTCCTCTCATTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCCTCTCATCTCCTCTCTCTCTCTCTCCTCTCTCTCTCTCCTCCT CTTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCT CTCTCTTCTCTCTCTCCTCTCTCTCTTCCTCTCTCTCCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTC CTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTC TCCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTC TCTCTC	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	52	0.0192	805	c.803 others(822): Show c.803-1528_803-1527insTCTCTCTCTCTCCTCTCTCCTCTCTCCT CTCTCTCCTCTGATCTAGATCTCGACTCGAGCTCCTCTCCTGCTCTCTCT CATCCTCTCTCTCTCCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCTCCTCTCCCTCCTCTCTCTCCTCTCTCCTCTCTCTCCTCTC TCTCTCTACTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCCTCTCTCTTCC TCTCTCTCTCTCCTCTCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCTCTCTCTCTCCTCTCATCTCTCTCTCTCTCTCTCTCTCCTCT CTCTCCCTCTCTCTCCTCTCTCTCTCCTCTCCTCTCTCTCTCTCCTCTCT CTCTCCTCTCTCTCCTCTCTTCCTCTCATTCCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCCTCTCATCTCCTCTCTCTCTCTCTCCTCT CTCTCTCTCCTCCTCTTCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTC TCTCCTCTCTCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTTCCTCTCTCT CCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCTCTCCTCTCTCTCT CCTCTCTCTCTCTCCTCTCTCTTCTCTCTCTCTCTCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCTCTCTCTCTCTCCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TMPRSS9_chr19_2355265_2431261	2418721	T T	TCCTTCCC others(798): Show TCCTTCCCTCCCTCCCTTTCCTTCCCTGCCTTCCCTTCCTCCCTTTCCTT CCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCCCTACCTTTCCTTCCCTT CTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTT TCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCCCTTTCCT TTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCCCTCTTTC CTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTACCTCCCC TTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCC TTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTT CCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTT CCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTC CTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCTTCCTTCCC TCCCTC	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18983.hp2 NA19009.hp2 HG02293.hp2 NA18983.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0002c0011t0001 a0001c0001t0001 a0002c0011t0001	a0001c0001t0001g0074 a0001c0001t0001g0092 a0002c0011t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0092 a0002c0011t0001g0067	3	88	0.0341	805	c.215 others(822): Show c.2154+587_2154+588insCCCTCCCTCCCTTTCCTTCCCTGCCTTC CCTTCCTCCCTTTCCTTCCCTTCCTTCCCTCCCTCCCTCCCCTTCCCTCC CTACCTTTCCTTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCC CTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCC CCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTT CCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTT CCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCT TCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTC CCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCT TCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCC TCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCC CTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCC CCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCTCCCCTTCCCAC CCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTC CCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCC TTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCT CCCTTTCCTTCCTTCCCTCCCTCCCTT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAF6_chr11_36478769_36515272	36507099	G G	GTGTATAT others(798): Show GTGTATATATGTATATATACATGTATTATACATACGTAAATGTATATATG TATATATACATGTATTATACATACGTAAATGTATATATGTATATATACAT GTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACAT ACGTAAATGTATATATGTATATATACATGTATTATACATACGTAAATGTA TATATGTATATATACATGTATTATACATACGTAAATGTATATATGTATAT ATACATGTATTATACATACGTAAATGTATATATGTATATATACATGTATT ATACATACGTAAATGTATATATGTATATATACATGTATTATACATACGTA AATGTATATATGTATATATACATGTATTATACATACGTAAATGTATATAT GTATATATACATGTATTATACATACGTAAATGTATATATGTATATATACA TGTATTATACATACGTAAATGTATATATGTATATATACATGTATTATACA TACGTAAATGTATAATGTATATATACATGTATTATACATACGTAAATGTA TAATGTATATATACATTATACATACGTAAATGTATAATGTATAATGTATA TATACATTATACATACGTAAATGTATAATGTATATATACATTATACATAC GTAAATGTATAATGTATATATACATTATACATACGTAAATGTATAATGTA TATATACATTATACATACGTAAATGTATATATATACATTATACATACGTA AATGTATTATACATAAATGTATATATGTATATATACATGTATTATACATA CATAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	372	0.0027	805	c.-23 others(822): Show c.-23+2948_-23+2949insTTTATGTATGTATAATACATGTATATAT ACATATATACATTTATGTATAATACATTTACGTATGTATAATGTATATAT ATACATTTACGTATGTATAATGTATATATACATTATACATTTACGTATGT ATAATGTATATATACATTATACATTTACGTATGTATAATGTATATATACA TTATACATTTACGTATGTATAATGTATATATACATTATACATTATACATT TACGTATGTATAATGTATATATACATTATACATTTACGTATGTATAATAC ATGTATATATACATTATACATTTACGTATGTATAATACATGTATATATAC ATATATACATTTACGTATGTATAATACATGTATATATACATATATACATT TACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTAT AATACATGTATATATACATATATACATTTACGTATGTATAATACATGTAT ATATACATATATACATTTACGTATGTATAATACATGTATATATACATATA TACATTTACGTATGTATAATACATGTATATATACATATATACATTTACGT ATGTATAATACATGTATATATACATATATACATTTACGTATGTATAATAC ATGTATATATACATATATACATTTACGTATGTATAATACATGTATATATA CATATATACATTTACGTATGTATAATACATGTATATATACATATATACAT TTACGTATGTATAATACATGTATATATACATATATACATTTACGTATGTA TAATACATGTATATATACATATATACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870319	C C	CACACACC others(798): Show CACACACCCCACACACACACATCACATACCACACACACATCACATACCAC ACACACCCCACACACACATCACATACCACACACAAACCACACACCACACA CACACCACACACCCCACACACACCACACACCCCACACACACCACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCA CACACACCACACCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACACCCCACA CACACCACACATCCCACACACACCACACCCCACACACACCACACCCCACA CACACCACACCCCACACACACCACACCCCACACACACCACACCCCACACA CACCACACCCCACACACACCACACACCGCACACACACCACACCCCGCACA CACCACACACCCCGCACACACCACACACCCCACACACACCACACACACCA CACCCCACACACACCACACCCCACACACACCACACACCCCACACACACCA CACACACCACACCCCACACACACCACACCCCACACACCCCACACACACCA CACACCCCACACACACCACACACACCACACACCCCACACACACCACACAC ACCACACACACCACACCCCACACACACCACACCCCACACACACCACACCC CACACACACCACACACACCACACCCCACACACACCACACACACCACAGCC CACACACACCACACACACCACACCCCACACACACCACACACACCACACCC CACACA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	316	0.0032	805	c.35 others(824): Show c.35+21586_*35+21587insACACACCCCACACACACACATCACAT ACCACACACACATCACATACCACACACACCCCACACACACATCACATACC ACACACAAACCACACACCACACACACACCACACACCCCACACACACCACA CACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACACCCCACACACACCACACCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACACCCCACACACACCACACATCCCACACACACCACA CCCCACACACACCACACCCCACACACACCACACCCCACACACACCACACC CCACACACACCACACCCCACACACACCACACCCCACACACACCACACACC GCACACACACCACACCCCGCACACACCACACACCCCGCACACACCACACA CCCCACACACACCACACACACCACACCCCACACACACCACACCCCACACA CACCACACACCCCACACACACCACACACACCACACCCCACACACACCACA CCCCACACACCCCACACACACCACACACCCCACACACACCACACACACCA CACACCCCACACACACCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACCCCACACACACCACACACACCACACCCCA CACACACCACACACACCACAGCCCACACACACCACACACACCACACCCCA CACACACCACACACACCACACCCCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
ZBTB34_chr9_126855639_126890878	126876197	T T	TCCCCCTT others(798): Show TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTCCCCCTTCCCCC CTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCC CCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCC CTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTT CCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCT TCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTT TCCCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0107 a0001c0001t0007g0107	1	100	0.0100	805	c.-10 others(822): Show c.-10-3193_-10-3192insCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCC CCCTTCCCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCT CTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCTCCCTTCC CCCCTTTCCCCCTTCCCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCCTTCCCC CCTTTCCCCCCTTCCCCCCTTTCCCCC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1			chr9	TogoVar
ZFPM1_chr16_88448280_88542031	88461053	C C	CCTGGTGA others(798): Show CCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGG AGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTG AGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCG GGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCG AGGGGTGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCC TGGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCG GGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAT GACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGGGGCGGG AGGCCTGGTGATGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAG GGGTGGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTG GTGAGGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGG GCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCA GGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGAC CCAGGGATGGGGCGGGAGACCTGGTGAGGACCGAGGGGCGGGAGGCCTGG TGAGGACCGAGGGGCGGGAGGCCCTGGTGAGGACCCAGGGGCAGAAGGTC TGGTGAGGACCAAGGGGCAGGAGGCCCTGGTGAGGACCCAGGGATGGGGC GGGAGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0013 a0008c0024t0013	a0008c0024t0013g0025 a0008c0024t0013g0025	1	300	0.0033	805	c.40+ others(820): Show c.40+7376_40+7377insTGGTGAGGACCGAGGGGTGGGGCGGGAGGC CTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGC GGGGCGGGAGGCCTGGTGAGGACCGAGGGGAGGGGCGGGAGGCCTGGTGA GGACCGAGGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGG GAGGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGATGACCGA GGGGCGGGGCGGGAGGCCTGGTGATGACCGAGGGGCGGGGCGGGAGGCCT GGTGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGTGG GGCGGGAGGCCTGGTGATGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGG ACCGAGGGGTGGGGCGGGAGGCCTGGTGATGACCGAGGGGAGGGGCGGGA GGCCTGGTGAGGACCGAGGGGTGGGGCGGGAGGCCTGGTGAGGACCGAGG GGAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGGCGGGAGGCCTGG TGATGACCGAGGGGCGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGA GGCCCTGGTGAGGACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCA GGAGGCCCTGGTGAGGACCCAGGGATGGGGCGGGAGACCTGGTGAGGACC GAGGGGCGGGAGGCCTGGTGAGGACCGAGGGGCGGGAGGCCCTGGTGAGG ACCCAGGGGCAGAAGGTCTGGTGAGGACCAAGGGGCAGGAGGCCCTGGTG AGGACCCAGGGATGGGGCGGGAGAC	ZFPM1	ENSG00000179588.9	transcript	ENST00000319555.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
ANO9_chr11_412938_447011	431600	C C	CGTGGGGG others(799): Show CGTGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTG TGGGGGCTCCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCC CGTGGGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCTGCGGGTATC TGGGGGCTTCCGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTC TGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCCGCGGGGGTG TGGGGGCGTCCGCGGGTATCTGGGGGCGTCTGCGGGGGTGTAGGGGCTCC CGCGGGTATCTGGGGGCGTCTGCGGGGGTGTGGGGGCTCCCGTGGGTATC TGGGGGGGCGTCTGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCT TCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCTGCAGGGG TGTGGGGGCGTCCGCGGGTATCTGGGGGCTTCCGCAGGGGTGTGGGGGCT CCCGTGGGTATCTGGGGGCGTCCGCGGGGGTGTGGGGGCTCCCGTGGGTA TCTGGGGGCTTCCGCGGGGGTGTGGGGGCGTCCGCGGGTATCTGGGGGGC CTTCTGCGGGGGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCGGG GGTGTGGGGGCTCCCGCGGGTATCTGGGGGCGTCTGCAGGGGTGTGGGGG CTCCCGTGGGTATCTGGGGGGGCATCTGCGGGGGTGTGGGGGCGTCCGCG GGTATCTGGGGGCTTCCGCGGGGGTGTGGGGGCACCCGCGGGTATCTGGG GGCGTCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	33	0.0303	806	c.539 others(819): Show c.539+93_539+94insAGACGCCCCCAGATACCCGCGGGTGCCCCCAC ACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCCCCACACCCCCGCAG ATGCCCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCAGACGCCCCC AGATACCCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGC GGGAGCCCCCACACCCCCGCAGAAGGCCCCCCAGATACCCGCGGACGCCC CCACACCCCCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCC GCGGACGCCCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCC CCAGATACCCGCGGACGCCCCCACACCCCTGCAGAAGCCCCCAGATACCC GCGGACGCCCCCACACCCCCGCGGAAGCCCCCAGATACCCGCGGACGCCC CCACACCCCCGCAGACGCCCCCCCAGATACCCACGGGAGCCCCCACACCC CCGCAGACGCCCCCAGATACCCGCGGGAGCCCCTACACCCCCGCAGACGC CCCCAGATACCCGCGGACGCCCCCACACCCCCGCGGACGCCCCCAGATAC CCGCGGGAGCCCCCACACCCCCGCAGACGCCCCCAGATACCCGCGGGAGC CCCCACACCCCCGCGGAAGCCCCCAGATACCCGCAGACGCCCCCACACCC CCGCGGAAGCCCCCAGATACCCACGGGAGCCCCCACACCCCCGCGGACGC CCCCAGATACCCACGGGAGCCCCCACACCCCTGCGGAAGCCCCCAGATAC CCGCGGACGCCCCCACACCCCCAC	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	7/22			chr11	TogoVar
ASMTL_chrX_1398139_1457909	1432709	G G	GTCCCAGC others(799): Show GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAG GCGGAGGTTGCAGTGAGCCGAGATTGCGCCCCTGCATTCCAGCCTGGGCC ACAGAGCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGG CGGCAGAGGCGGATGGATCACCAGAGGCCAGGGTTCGAGATCAGCCTGGC CAACATGGCGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCG TGGTGGCGGGTGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGA ATCGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCAC TGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCTAAAAAAAACAA AAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGG GGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAG TGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGATCGAGACT CCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGA TGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAA ACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCA CCTGTCA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp1 HG02071.hp1 others(2): Show HG01496.hp1 HG01981.hp1 HG02071.hp1 HG02074.hp1 HG02523.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0013	a0001c0001 a0003c0002 a0006c0017 others(1): Show a0001c0001 a0003c0002 a0006c0017 a0013c0021	a0001c0001t0001 a0003c0002t0001 a0006c0017t0001 others(1): Show a0001c0001t0001 a0003c0002t0001 a0006c0017t0001 a0013c0021t0001	a0001c0001t0001g0053 a0003c0002t0001g0074 a0006c0017t0001g0182 others(2): Show a0001c0001t0001g0053 a0003c0002t0001g0074 a0006c0017t0001g0182 a0006c0017t0001g0183 a0013c0021t0001g0055	5	176	0.0284	806	c.401 others(821): Show c.401-333_401-332insTGACAGGTGCCCGCCACCACGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGATCTGTGGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTT CAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTTTAGAGATGGAGTC TCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGC AACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCAAGT ATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGTTTTCGCCATGTTGGCCAGGCTGATCTCGAACCCTGG CCTCTGGTGATCCATCCGCCTCTGCCGCCCAAACTGCTGTTTCTTTTGTT TTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAATGCAGGGGC GCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
ASMTL_chrX_1398139_1457909	1432709	G G	GTCCCAGC others(799): Show GTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAG GCGGAGGTTGCAGTGAGCCGAGATTGCGCCCCTGCATTCCAGCCTGGGCC ACAGAGCGAGACTCCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGG CGGCAGAGGCGGATGGATCACCAGAGGCCAGGGTTCGAGATCAGCCTGGC CAACATGGCGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCCGGGCG TGGTGGCGGGTGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGA ATCGCTTCAACCCGGGAGGCGGAGGTTGCAGTGAGCCAAGATCGCACCAC TGCACTCCAGCCTGGGCCACAGAGCGAGACTCCATCTCTACAAAAAACAA AAGAAACAGCAGTTTGGGCGGCCGAGGCGGATGGATCACCAGAGGCCAGG GGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTCATCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCGGAGGTTGCAG TGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCCACAGATCGAGACT CCGTCTCTAAAAAAAACAAAAGAAACAGCAGTTTGGGCGGCCGAGGCGGA TGGATCACCAGAGGCCAGGGGTTCGAGACCAGCCTGGCCAACATGGCGAA ACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCGGGCA CCTGTCA	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18985.hp1 HG00438.hp1 NA18985.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0067 a0003c0002t0001g0105 a0001c0001t0001g0067 a0003c0002t0001g0105	2	173	0.0116	806	c.401 others(821): Show c.401-333_401-332insTGACAGGTGCCCGCCACCACGCCTGGCTAA TTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGT CTCGAACCCCTGGCCTCTGGTGATCCATCCGCCTCGGCCGCCCAAACTGC TGTTTCTTTTGTTTTTTTTAGAGACGGAGTCTCGATCTGTGGCCCAGGCT GGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTT CAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATGACAGGTGCC CGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCG CCATGTTGGCCAGGCTGGTCTCGAACCCCTGGCCTCTGGTGATCCATCCG CCTCGGCCGCCCAAACTGCTGTTTCTTTTGTTTTTTGTAGAGATGGAGTC TCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGC AACCTCCGCCTCCCGGGTTGAAGCGATTCTCCTGCCTCAGCCTCCCAAGT ATCTGGGATTACAGGCACCCGCCACCACGCCCGGCTAATTTTTGTATTTT TAGTAGAGACGGGTTTTCGCCATGTTGGCCAGGCTGATCTCGAACCCTGG CCTCTGGTGATCCATCCGCCTCTGCCGCCCAAACTGCTGTTTCTTTTGTT TTTTTTAGAGACGGAGTCTCGCTCTGTGGCCCAGGCTGGAATGCAGGGGC GCAATCTCGGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGA	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding	5/12			chrX	TogoVar
C4orf50_chr4_5954375_6023431	6004335	G G	GGTGATGG others(799): Show GGTGATGGTGATGATGTGGTGGTGATGGTGATGGTGACTGTGATGGTGAT GGTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGGTGATGATGT GATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGATGGCGATGAT AGTGATGATGGTGATGATGGTGATGGTGATGATGTGATAGTGATGATGGT GATGATGCTGATGGTGATGATGGTGATGGTGATGATGGTGATAGTGATGA TGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATTATG GTGATGATGGGATGGTGATGTTGATGATGGTGGTGATGGTGATGATGTGA TGGCGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGTGATGG TGATGATAGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGACGGTGATGA TGTGATGGTGATGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGA TGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGA TGGTGATGATGTTGATGATGGTGATGATGGTGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGAT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0001 a0011c0014t0001	a0011c0014t0001g0145 a0011c0014t0001g0145	1	341	0.0029	806	c.963 others(823): Show c.963+3660_963+3661insATCATCACCATCACCATCATCACCATCA CCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCATC ACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCAC CATCATCACCATCATCAACATCATCACCATCACATCATCACCATCATCAC CATCACCATCATCACCATCATCAACATCATCACCATCATCACCATCACCA TCACCATCATCACCATCATCACCATCACATCATCACCGTCACCATCATCA CCATCATCACCATCATCACCATCACCATCATCACCATCACCATCATCACC ATCATCACTATCATCACCATCACCATCACCATCATCACCATCACCATCAT CACCATCATCACCATCATCACTATCATCACCATCACATCATCACCATCAC CATCATCACCATCATCACTATCATCGCCATCACATCATCACCATCACCAC CATCATCAACATCACCATCCCATCATCACCATAATCACCATCACCATCAT CACCATCATCACCATCATCACCATCACCATCATCACTATCACCATCATCA CCATCACCATCATCACCATCAGCATCATCACCATCATCACTATCACATCA TCACCATCACCATCATCACCATCATCACTATCATCGCCATCACATCATCA CCATCACCACCATCATCAACATCACCATCACATCATCACCATCACCATCA TCACCATCATCACCATCACCATCATCACCATCACCATCACAGTCACCATC ACCATCACCACCACATCATCACCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
C4orf50_chr4_5954375_6023431	6004599	A A	ATGATGGT others(799): Show ATGATGGTGACGGTGATGATGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGATGTTGATGATGGTGATGATGGTGATGATGGTGAT GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGATGATGTGATGGTGATGATGATGGTGATGGTGATGATGGTGATGGTGA TGATGGTGATGGTGGTGATGATGATGGTGATGTGATGGTAATGGTGATGA TGGTGATGGTGATGATGATGTGGTGGTGATGGTGATGCTGATGATGGTGA TGATGGTGATGGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGATATTGATGGTGATGATATTGATGGT GATGATGGTGATGGTGATGATGTGATGGTGATGATGGTGATGATGGTGAT AGTTATGATGGTGATGGTGATGATGTTGATGATGGTGATGATGGTGATGA TGGTGATGGTGATGATGTGATGGTGATGATAGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATG GTGATGATGGTGATGGTGATGATGGTGATGATGGTGATGATGGTGATGAT GGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGACGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGGAGATGGAGATG TTGGTGATGATGGTGATGGTGGTGATGATGTGATGGTAATGGTGATGATG GTGATGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02145.hp1 HG02809.hp1 HG01255.hp2 HG02145.hp1 HG02809.hp1	a0031 a0069 a0031 a0069	a0031c0032 a0069c0111 a0031c0032 a0069c0111	a0031c0032t0001 a0069c0111t0001 a0031c0032t0001 a0069c0111t0001	a0031c0032t0001g0025 a0031c0032t0001g0026 a0069c0111t0001g0094 a0031c0032t0001g0025 a0031c0032t0001g0026 a0069c0111t0001g0094	3	198	0.0152	806	c.963 others(823): Show c.963+3396_963+3397insCCATCACCATCATCACCATTACCATCAC ATCATCACCACCATCACCATCATCACCAACATCTCCATCTCCATCACCAC CATCACCATCATCACCATCACCATCATCACCATCACCGTCATCATCACCA TCACCATCATCACCATCACCATCATCACCATCATCACCATCATCACCATC ATCACCATCATCACCATCACCATCATCACCATCACCATCATCACCATCAT CACCATCACCATCACCATCATCACCATCACCATCATCACCATCATCACTA TCATCACCATCACATCATCACCATCACCATCATCACCATCATCACCATCA TCAACATCATCACCATCACCATCATAACTATCACCATCATCACCATCATC ACCATCACATCATCACCATCACCATCATCACCATCAATATCATCACCATC AATATCATCACCATCATCACCATCACCATCATCACCATCACCATCATCAC CATCATCACTATCATCACCATCACCATCATCACCATCATCAGCATCACCA TCACCACCACATCATCATCACCATCACCATCATCACCATTACCATCACAT CACCATCATCATCACCACCATCACCATCATCACCATCACCATCATCACCA TCACCATCATCATCACCATCACATCATCACCATCACCATCATCACCATCA CCATCATCACCATCATCACTATCATCACCATCACCATCATCACCATCATC ACCATCATCAACATCATCACCATCATCACCATCACCATCATCACCATCAT CACCATCACATCATCACCGTCACCATCA	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CAPN15_chr16_522712_559636	544819	A A	ACGTCGTC others(799): Show ACGTCGTCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACG TCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCC CCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCAC GTCGCCTCCCCCACGTCGCCTCCCCTCACATCGCCTCCCCCACGTCGTCG CCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0373 a0001c0001t0002g0373	1	362	0.0028	806	c.-22 others(823): Show c.-22-1993_-22-1992insTCGTCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCC CACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGC CTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCA CGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACG TCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGTCGTCTCCCCCAC GTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTC CCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCT CCCCCACGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCTCACATCGC CTCCCCCACGTCGTCGCCTCCCCCACGTCGTCGCCTCCCCCACGTCGCCT CCCCCACGTCGCCTCCCCCACGTCGTCG	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CCDC57_chr17_82096470_82217842	82215697	C C	CCCCCACA others(799): Show CCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAG CACCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCT CCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCC CCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCAC CCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCT TCCCTGCCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCC CACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACC CCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTC CCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCACAC TGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCT CCCCCTCCTTCCCTGCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCT GCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCA GCACCCCTCCCCCTCCTTCCCTGCCCCCCCACACTGCAGCACCCCTCCCC CTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCC CCCACACTGCAGCACCCCTCCCCCTCCTTCCCTGCCCCCACACTGCAGCA CCCCTCCCCCTCCTTCCCTGCCCCCCACACTGCAGCACCCCTCCCCCTCC TTCCCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0086 a0003c0004t0003g0086	1	56	0.0179	806	c.-29 others(817): Show c.-2922_-2921insCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGG GGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAG GGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTG CAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGG CAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGG GAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAG TGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGG GAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAG GGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGT GGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGG AGGGGGAGGGGTGCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGT GCTGCAGTGTGGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGG GGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGA GGGGGAGGGGTGCTGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGC TGCAGTGTGGGGGGCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGG GCAGGGAAGGAGGGGGAGGGGTGCTGCAGTGTGGGGGCAGGGAAGGAGGG GGAGGGGTGCTGCAGTGTGGGG	CCDC57	ENSG00000176155.21	transcript	ENST00000694881.1	protein_coding		2856		chr17	TogoVar
CD2AP_chr6_47472789_47632263	47505627	C C	CCCCCCCA others(799): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT TACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCGTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCGCTGGCCGGGCAGGGG GGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGGCTGGCCGGGCGTGGG GCTGACACCCCTACCTCCCTCCTGGACAGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCAACTCCCA GACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCCACCTCCCTCCCG GACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGG CCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGG GCGCTGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0284 a0001c0001t0057g0284	1	249	0.0040	806	c.165 others(823): Show c.165+2193_165+2194insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACACCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTTACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC GTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCCG CTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCTGGACGAGGCGG CTGGCCGGGCGTGGGGCTGACACCCCTACCTCCCTCCTGGACAGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGC GCCCCTCAACTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCC CCCACCTCCCTCCCGGACAGGGCGGTTGGCCGGGCGGGGGGCTGACCCCC CCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGC GGCTGGCCGGGCGGGGCGCTGACCCCCC	CD2AP	ENSG00000198087.7	transcript	ENST00000359314.5	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(799): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATATTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGA	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18993.hp2 HG02602.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0048 a0001c0002t0001 a0001c0002t0048	a0001c0002t0001g0259 a0001c0002t0048g0268 a0001c0002t0001g0259 a0001c0002t0048g0268	2	39	0.0513	806	c.248 others(823): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTC GCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(799): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATATTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	38	0.0263	806	c.248 others(823): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTC GCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(799): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGGAGGG AGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAA ATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATA AAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCT ATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAAT TGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGT ACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATC CTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACA TGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGG AGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGA ATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATA TGTATGCTATAAGCCAAAAAAATAAACAGATTCAAATAATTTTAGATATA AATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAATACAT CCATACTACATATATATATATATATATATATATATTTTTTTTTTTTTTTT TTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTCGCTCTGTCGCCCA TGCTGGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	38	0.0263	806	c.248 others(823): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGGAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTC TTAAGGCAAAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACAT TCAGATCGTTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAA GAGACAAAATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACA AAATGGGGAAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAG ATGAGGGACAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGA TTCCTTAAATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAA TACTTGGTGGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAA TGATGGAGTTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAG TAATTAAGAAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCT CCATAGATATATATGTATGCTATAAGCCAAAAAAATAAACAGATTCAAAT AATTTTAGATATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTC ATGGGCAATACATCCATACTACATATATATATATATATATATATATATTT TTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCTC GCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
CFAP20DC_chr3_58737008_59055025	58786706	T T	TAAGATAT others(799): Show TAAGATATGCCAAAGAGCGACCCCTCTCCAAGAGGGATCACTCACAGGCA CTGGTTATTGGCTGGGAGCTCAGCCTGGATTGAGAGATAGGAACTTCATT CCTCTCCATGTGGGTCTCTTCATGTAGCCCAGGCTTCCTCACTGCACGGT GGCTGGCTGCTGAGGGAAAGTGACTCAAGGACCGTATTGCCTCTTAAGAC CCAGGCTTGGAAGTTATACAGTGTTGTCTATCACGTGTGTCAGTCTAATG ACACACAAATTAAGGGGAAGGGACATAACCCCCACCTCTTGAGGGTGAGT GGCAAAGTTTTGGAAGAGCATGTGGGATGGGATATATTGTTGTAGTTATT TTTGAAAAATACAATTTGCTACGTCAGGTATGACATTTTATTACATTCTT TAAAATGTGACAATTGTCCTTCCCTTTTTAAGTTACAAACAAAAAGTAAA ACTAAAGAAGTATCGTGATTTTCTTTAGGCAAAAATCAGTCAACTAGTTT GAAAGTCATTAGTGAAAATATGGAGAAATATTAATTCCAGATAATCAGGT TAAAATGGAGACCTAGCATTATTTGGCCAATTAATTGACAGAATGTTACA AGATGCCAAAGACTGGTAGCATCAAATACTGTATTCCAGACTATAATAGG CAGTAAACTGGAAACATAATCTGTAATTCTGTAAATTGAATTATTGTTGA ATGAATTAATTTTTCCGTATCTGTAATATTTTTACCTTATGTAATAAAAA CCATAAATCTGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18964.hp2 NA18950.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0147 a0001c0002t0002g0095 a0001c0002t0002g0147	2	151	0.0132	806	c.223 others(827): Show c.2237+19688_2237+19689insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTCCAGATTTATGGTTTTTATTACATAAGGT AAAAATATTACAGATACGGAAAAATTAATTCATTCAACAATAATTCAATT TACAGAATTACAGATTATGTTTCCAGTTTACTGCCTATTATAGTCTGGAA TACAGTATTTGATGCTACCAGTCTTTGGCATCTTGTAACATTCTGTCAAT TAATTGGCCAAATAATGCTAGGTCTCCATTTTAACCTGATTATCTGGAAT TAATATTTCTCCATATTTTCACTAATGACTTTCAAACTAGTTGACTGATT TTTGCCTAAAGAAAATCACGATACTTCTTTAGTTTTACTTTTTGTTTGTA ACTTAAAAAGGGAAGGACAATTGTCACATTTTAAAGAATGTAATAAAATG TCATACCTGACGTAGCAAATTGTATTTTTCAAAAATAACTACAACAATAT ATCCCATCCCACATGCTCTTCCAAAACTTTGCCACTCACCCTCAAGAGGT GGGGGTTATGTCCCTTCCCCTTAATTTGTGTGTCATTAGACTGACACACG TGATAGACAACACTGTATAACTTCCAAGCCTGGGTCTTAAGAGGCAATAC GGTCCTTGAGTCACTTTCCCTCAGCAGCCAGCCACCGTGCAGTGAGGAAG CCTGGGCTACATGAAGAGACCCACATGGAGAGGAATGAAGTTCCTATCTC TCAATCCAGGCTGAGCTCCCAGCCAATAACCAGTGCCTGTGAGTGATCCC TCTTGGAGAGGGGTCGCTCTTTGGCATATCTT	CFAP20DC	ENSG00000163689.21	transcript	ENST00000482387.7	protein_coding	15/16			chr3	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TGGGTGGG others(799): Show TGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATG GGTGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGA TGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0121 a0010c0017t0002g0121	1	4	0.2500	806	c.342 others(825): Show c.3423-4247_3423-4246insGGTGGGTGGATGGATGGATGGATGGA TGGATGGATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGA TAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTG GATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGG TGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATA GATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGA TGGATGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATG GATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGG TGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CLCN5_chrX_49917596_50104230	50057375	G G	GTCCTGGA others(799): Show GTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTAT CCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACT ATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATA CTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGA TACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATA GATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGA TAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTG GATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCC TGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCT CCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACT CTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGA CTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAG GACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCC AGGACTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	16	0.0625	806	c.164 others(825): Show c.164-12182_164-12181insATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCT GGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTC CTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTC TCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGAC TCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGG ACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATCCA GGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTATC CAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATACTA TCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGATAC TATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAGAT ACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGATAG ATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGGAT AGATACTATCCAGGACTCTCCTGGATAGATACTATCCAGGACTCTCCTGG ATAGATACTATCCAGGACTCTCCTGGATAG	CLCN5	ENSG00000171365.17	transcript	ENST00000376091.8	protein_coding	4/14		INFO_REALIGN_3_PRIME	chrX	TogoVar
CNST_chr1_246561456_246673595	246642837	G G	GGTGGTGG others(799): Show GGTGGTGGTGATGATGATGATGATGGTGATGATGATGATGATGGTGATGA TGATGGTGATGATGGTGATGATGATGGTGATGATGAGGATGATGATGATG GTGATGATGATGGTGATGGTGATGATGACGGTGATGATGGTGATGGTGAT GATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATGATGA GGATGATGATGGTGATGATGATGATGGTGATGATGGTGATGGTGATGATG GTGATGAGGATGATGATGGTGATGATGATGGTGATGATGATGATGGTGGT GATGGTGATGGTGGTGATGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGATGATGATGATGGTGATGATGATGGTGGTGATG ATGGTGATGGTGATGGTGATGATGGTGATGATGGTGATGATGATGATGAT GGTGATGATGGTGGTGATGATGATGGTGATGATGGTGATGGTTATGATGG TGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGGTGATGATA AGGATGATGATGATGATGAGGATGATGGTGGTGATGATGATGGTGATGAC GATGATGGTGATGATGATGGTGATGACGATGATGGTGATTGTGATGATGG TGATGACGATGATGAGGATGGTGATGATGGTGATGATGATGGTGAGGATG GTGATGATGATGGTGATGATGAGGATGGTGATGATGGTGATGATGATGGT GATTATGATGATGGTGATGATGGTGATGATGATGGTGATGATGATGATGG TGATGAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	74	0.0135	806	c.937 others(821): Show c.937+801_937+802insTGGTGGTGATGATGATGATGATGGTGATGA TGATGATGATGGTGATGATGATGGTGATGATGGTGATGATGATGGTGATG ATGAGGATGATGATGATGGTGATGATGATGGTGATGGTGATGATGACGGT GATGATGGTGATGGTGATGATGGTGATGATGAGGATGATGATGGTGATGA TGATGATGGTGATGATGAGGATGATGATGGTGATGATGATGATGGTGATG ATGGTGATGGTGATGATGGTGATGAGGATGATGATGGTGATGATGATGGT GATGATGATGATGGTGGTGATGGTGATGGTGGTGATGATGGTGATGATGG TGATGGTGATGATGGTGATGGTGATGATGGTGATGATGATGATGATGGTG ATGATGATGGTGGTGATGATGGTGATGGTGATGGTGATGATGGTGATGAT GGTGATGATGATGATGATGGTGATGATGGTGGTGATGATGATGGTGATGA TGGTGATGGTTATGATGGTGATGGTGATGATGGTGATGATGAGGATGATG ATGGTGATGGTGATGATAAGGATGATGATGATGATGAGGATGATGGTGGT GATGATGATGGTGATGACGATGATGGTGATGATGATGGTGATGACGATGA TGGTGATTGTGATGATGGTGATGACGATGATGAGGATGGTGATGATGGTG ATGATGATGGTGAGGATGGTGATGATGATGGTGATGATGAGGATGGTGAT GATGGTGATGATGATGGTGATTATGATGATGGTGATGATGGTGATGATGA TGGTGATGATGATGATGGTGATGATG	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPNE7_chr16_89570758_89602246	89588206	G G	GCGTGTCA others(799): Show GCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCA CAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTC ACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCA CAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCC	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0226 a0003c0006t0003g0226	1	232	0.0043	806	c.928 others(821): Show c.928-442_928-441insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCC CCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCG TGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC GCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGATACACGGC CCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGA TACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCC GTGTCACCCACAGATACACGGCCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
DCLK2_chr4_150073445_150262438	150250966	A A	ATCTCCCC others(799): Show ATCTCCCCACACCCCCCACATCCCCCACACCTCCCACATCCCCCCACATC CCCCACACCCCCCCACATCCCCCACACCCCCCACATCCCCCACACCCCCA CACATCCCCCACACCCCCCACATCCCCCACACTCCCCACACCCCCCCACA CCCCCCACATCCCCACACACCACAAATCCTCCACACCCCCACACCACACA TCCCTCACACCCCCCACACCCCCACACACCCCCCACACCACACATCCCTC ACACCCCCAACACCCCCACACACCCCCACACACCCCCCACACCCCCCACA CCCCCACACACCCCCACACACCCCCCACACCACACATCCCTCACACCCCC AAATCCCCCACACCCCCCACATCTCCCCACACCACACATCCCTCACACCC CCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCACACATCC CTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACAC CCCCCACACCACACATCCCTCACACCCCCCACACCACACATCCCTCACAC CCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCAC ACCACACATCCCTCACACCCCCCACACCACACATCCCTCACACCCCCCCA CACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACA CATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCC CACACCACACATCCCTCACACCCCCCACACCCCCCCACACCACACATCCC TCACACC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0025 a0001c0001t0007g0025	1	29	0.0345	806	c.207 others(825): Show c.2073+1282_2073+1283insTCTCCCCACACCCCCCACATCCCCCA CACCTCCCACATCCCCCCACATCCCCCACACCCCCCCACATCCCCCACAC CCCCCACATCCCCCACACCCCCACACATCCCCCACACCCCCCACATCCCC CACACTCCCCACACCCCCCCACACCCCCCACATCCCCACACACCACAAAT CCTCCACACCCCCACACCACACATCCCTCACACCCCCCACACCCCCACAC ACCCCCCACACCACACATCCCTCACACCCCCAACACCCCCACACACCCCC ACACACCCCCCACACCCCCCACACCCCCACACACCCCCACACACCCCCCA CACCACACATCCCTCACACCCCCAAATCCCCCACACCCCCCACATCTCCC CACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCT CACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCA CACATCCCTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCC CCCACACCACACATCCCTCACACCCCCCACACCCCCCACACCACACATCC CTCACACCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACAC CACACATCCCTCACACCCCCCCACACCCCCCACACCACACATCCCTCACA CCCCCCACACCCCCCACACCACACATCCCTCACACCCCCCACACCCCCCA CACCACACATCCCTCACACCCCCCACACCACACATCCCTCACACCCCCCA CACCCCCCCACACCACACATCCCTCACACC	DCLK2	ENSG00000170390.16	transcript	ENST00000296550.12	protein_coding	15/15			chr4	TogoVar
DIP2C_chr10_269201_694668	478051	A A	AGGGAGGG others(799): Show AGGGAGGGGAGGGGAGGGGAAAAGAAGAGAGGGGAAGGGAGGGGAAGGGA GGGGAAGGGAGGAGAAAAGAAGAGGGGAGGGGAAGGGAGGGGAAAAGAAG AGGGGAGGGGAAAAGAAGAGGGGAAGGGAGGGGAGGGGAAAAGAAGAGAG GGGAAGGGAGGGGAGGGGAAAAGAAGAGGGGAGGGGAGGGGAGGGGAGAA GGGAGGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGGGGAGAGGGGA GGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGGGGAG AAGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGAA GGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGGGGAGAGGGGAGAAGG GAGGGGAGGGGAGAGGGGAGGGGAGGGGAGGGGAGAGGGGAGGGGAGGGG AGGGGAGAGGGGAGAAGGGAGGGGAGGGGAGAGGGGAGGGGAGGGGAGGG GAGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGAAG GGAGGGGAGGGGAGAAGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAG GGGAGAAGGGAGGGGAGAAGGGAGGGGAGAGGGGAGGGGAGAGGGGAGGG GAGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGA AGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAG AAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGG AGAAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	9	0.1111	806	c.158 others(823): Show c.158-5503_158-5502insCTCTTCTCCCCTCCCCTCCCCTCTTCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCC CCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTC CCCTCCCCTCCCTTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCT CTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCCTCC CTTCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTC CCTTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCT CCCCTCCCCTCCCTTCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCC TCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCTTCTCCCCTCTCCCCTCCC CTCCCTTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCT CCCTTCTCCCCTCCCTTCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCC CCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CTCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCC CCTCTTCTTTTCCCCTCCCCTCCCTTCCCCTCTCTTCTTTTCCCCTCCCC TCCCTTCCCCTCTTCTTTTCCCCTCCCCTCTTCTTTTCCCCTCCCTTCCC CTCCCCTCTTCTTTTCTCCTCCCTTCCCCTCCCTTCCCCTCCCTTCCCCT CTCTTCTTTTCCCCTCCCCTCCCCTCCC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
EHMT1_chr9_137614005_137841127	137716361	G G	GTGGTGGT others(799): Show GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCAT GGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGT GTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGAAGTTGTG TTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGG AAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGTGTCATGGT GGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGGT GTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTT GTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGG AGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCAT GGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTT GGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAA GTTGTGT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	88	0.0114	806	c.86- others(819): Show c.86-260_86-259insGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGGGAGGA AGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGGTGTCATGGTGGGGGAGGAAGTTGTGGTGTCGTGGTGGGG GAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCA TGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGG TGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGA AGTTGTGGTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTG GGGGAGGAAGTTGTGGTGGTGTCGTGGTGGGGGAGGAAGTTGTGTTGGTG TCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTG TGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATGGTGGGGGA GGAAGTTGTGTTGGTGTCATGGTGGGGGAGGAAGTTGTGTTGGTGTCATG GTGGGGGAGGAAGTTGTGTTGGTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(799): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATGTCTATTTC CTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATCAATGTGAAATAGAA TTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTTGGATAAATCAGTTT TATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG03195.hp2 NA18522.hp2 others(1): Show HG02523.hp2 HG03195.hp2 NA18522.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0156 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0170	4	273	0.0147	806	c.-51 others(817): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAAT CAATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTT TGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
GABRB3_chr15_26538552_26778066	26716814	C C	CACAGCCC others(799): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGACAGCCCAGCTCT GAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGG GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACA GCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTC CACCAAATGACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGC TCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGGGG ACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGC CCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCA CCAAATG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19082.hp2 NA18983.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0099 a0001c0001t0003g0100	2	131	0.0153	806	c.240 others(825): Show c.240+55587_240+55588insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTG GAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGGTT GGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTG GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGG TCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTG GTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
GALNT9_chr12_132191372_132334589	132241312	A A	AGGGGCCC others(799): Show AGGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCTTGG CCGTCCCTATACCCATTACACACACGCCACACCACCTTCCCGGGGCCCTC CCTATACCCATTACACACACGCCACACACCCTTACAGGGGCCCTCCCTAT ACCCATTACACACACGCCACACCCCCTTCCTGGGGACCTCCCTATACCCA TTACACACACGCCACACCCCCTTCCCAGGGACCTCCCTATCCCCATTACA CACACGCCACACCCCCTTCCCGGGGCCCTCCCTATCCCCATTAAACACAC AACACACCCCCTTCCCAGGGCCCTCCCTATACCCATTACACACACAACAC ACACTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCT TCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCG GGGCCCTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCC CTCCCTATACCCATTACACACACACCACACCCCCTTCCCGGGGCCCTCCC TATACCCATTAAACACACAACACACCCCCTTCCCGGGGCCCTCCCTATCC CCATTAAACACACAACACACCCCCTTCCCAGGGCCCTCCCTATACCCATT ACACACACAACACACACTTCCCGGGGCCCTCCCTATACCCATTACACACA CAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACACCA CACACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCC CCTTCCC	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	50	0.0200	806	c.107 others(825): Show c.1077+6597_1077+6598insGGGAAGGGGGTGTGGCGTGTGTGTAA TGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGTGTGTGTGTAATGGGT ATAGGGAGGGCCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGG GAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCC CTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAGGGAGGGCCCCGGG AAGGGGGTGTGTTGTGTGTTTAATGGGTATAGGGAGGGCCCCGGGAAGGG GGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGTATAGGGAGGGCCCCGGGAAGTGTGTGTTGTGTGTGTAATGGG TATAGGGAGGGCCCTGGGAAGGGGGTGTGTTGTGTGTTTAATGGGGATAG GGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTGTAATGGGGATAGGGAGG TCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGTCCCC AGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGTAA GGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGTGG TGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGGAAGGGTGTGTGG CGTGTGTGTAATGGGTATAGGGAGGGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GMDS_chr6_1618806_2250605	1897923	A A	ACCCTTGC others(799): Show ACCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACA CCTATCCTGGCCTCCGTTGCCATCCTGGACACCTACCCTGGCCTCCCTTG CCATCCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCC TGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCT GGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTACCCTGGCCTC CCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACC TATCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCCTTGCC ATCCTGGACACCTATCCTGGCCTCCGTTGCCATCCTGGACACCTACCCTG GCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGG ACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTACCCTGGCCTCCC TTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTA TCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCAT CCTGGACACCTACCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGC CTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGAC ACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTATCCTGGCCTCCCTT GCCATCCTGGACACCTATCCTGGCCTCCCTTGCCATCCTGGACACCTACC CTGGCCT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	139	0.0072	806	c.771 others(825): Show c.771+32179_771+32180insAGGCCAGGGTAGGTGTCCAGGATGGC AAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGT GTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAG GCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGG ATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGA TAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAA GGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGT CCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGC CAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCCAGGAT GGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTA GGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGGCAAGG GAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGGTGTCC AGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGAGGCCA GGATAGGTGTCCAGGATGGCAAGGGAGGCCAGGATAGGTGTCCAGGATGG CAAGGGAGGCCAGGGTAGGTGTCCAGGATGGCAAGGGAGGCCAGGGTAGG TGTCCAGGATGGCAACGGAGGCCAGGATAGGTGTCCAGGATGGCAAGGGA GGCCAGGGTAGGTGTCCAGGATGGCAAGGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(799): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA AATATATATATTTATATATATATATAAATATATATATTTATATTTATTTA TATATATAAATATATATATTTATATTTATTTATATATATATAAATATATA TATTTATATTTATATTTATATATTTATATTTATATATATAAATATATATA TTTATATTTATTTATATATATAAATATATATATTAATATATATTTATATA TATAAATATATATATTTATATATAAATATATATTTATGTATATTTATATA TAAATATATATATTTATATATATAAATATATATATTTATATATAAATATA TCTATTTATATATAAATATATATATAAATATATATATTTATATATAAATA TATATATTTATATATATATTTATATATAAATATATATATTTATATATAAA TATATATATTTATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATATATATAAATATATATATTTATATATATATTTATA TATAAATATATATATTTATATATAAATATATATATTTATATATATAAAAT ATATATATTTATATATATAAATATATATATATTTATATTTACAAATATAT ATATTTATATATATATTTATATTATATATATTTATATTTATATATATATA TATAAATATATATTTATGTATATTTATATATAAATATAAATATATATTTA TATATAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0046 a0001c0001t0039g0046	1	95	0.0105	806	c.-97 others(823): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATAAATATATATATTTATATATATATATAAATATATATATTTATAT TTATTTATATATATAAATATATATATTTATATTTATTTATATATATATAA ATATATATATTTATATTTATATTTATATATTTATATTTATATATATAAAT ATATATATTTATATTTATTTATATATATAAATATATATATTAATATATAT TTATATATATAAATATATATATTTATATATAAATATATATTTATGTATAT TTATATATAAATATATATATTTATATATATAAATATATATATTTATATAT AAATATATCTATTTATATATAAATATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATATATTTATATATAAATATATATATTTAT ATATAAATATATATATTTATATATATATTTATATATAAATATATATATTT ATATATAAATATATATATTTATATATATAAATATATATATTTATATATAT ATTTATATATAAATATATATATTTATATATAAATATATATATTTATATAT ATAAAATATATATATTTATATATATAAATATATATATATTTATATTTACA AATATATATATTTATATATATATTTATATTATATATATTTATATTTATAT ATATATATATAAATATATATTTATGTATATTTATATATAAATATAAATAT ATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HOMEZ_chr14_23267422_23291132	23280705	T T	TTTATTTT others(799): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT ATTTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTATAT TTTATTTTATATTTTATTTTATATTTTATTTTATATTTTATTTTATATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0210 a0001c0002t0002g0210	1	351	0.0028	806	c.41- others(821): Show c.41-3519_41-3518insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAA TAAAATAAAATAAAATAAAATAAAATAAAATATAAAATAAAATATAAAAT AAAATATAAAATAAAATATAAAATAAAATATAAAATAAAATATAAAATAA AATATAAAATAAAATATAAAATAAAATATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(799): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATATGTGGAATAT ATATATGGAATATATATATATGTGGAATATATATATGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATGTGTATATGGAATATATACATGGAATATATATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATATAGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATACATGGAATATATACATGGAACATATACATGGAATATATACATGG AACATATACATGGAATATATATATATGGAACATATACGGAATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATGGAATATATATATG GAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0202 a0002c0002t0014g0202	1	305	0.0033	806	c.-27 others(817): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATATGTGGAATATATATATGGAATATATATATATGTGGAATATATATA TGGAATATATATATATGTGGAATATATATATGGAATATATATATATGTGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATACATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATACATGGAATATATATATATGGAACATAT ACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TGGAATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322309	A A	ATATATGC others(799): Show ATATATGCAATATATATATATGGAATATATATATGCAGTATATATATATG AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATGGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATATGTGGAATATATATATATGTGGAATATATATATA TGTGGAATATATATATGGAATATATATATATGTGGAATATATATATGGAA TATATATATGGAATATATACATGGAATATATGTATATGGAATATATACAT GGAATATGTGTATATGGAATATATACATGGAATATATATATGGAATATAT ACATGGAATATATATATGGAATATATACATGGAATATATATATATGGAAT ATATACATGGAATATATATATATGGAATATATACATGGAATATATATATA TGGAATATATACATGGAATATATATATATAGAATATATACATGGAATATA TATATGGAATATATACATGGAATATATATATATGGAATATATACATGGAA TATATACATGGAATATATACATGGAACATATACATGGAATATATACATGG AACATATACATGGAATATATATATATGGAACATATACGGAATATATATAT GGAATATATATACGGAATATATATATATGGAATATATATACGGAATATAT ATATGGAATATATATACGGAATATATATATATGGAATATATATACGGAAT ATATATATATGGAATATATATACGGAATATATATATGGAATATATATATG GAATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	305	0.0033	806	c.-27 others(817): Show c.-2747_-2746insTATATGCAATATATATATATGGAATATATATATG CAGTATATATATATGAATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATGGAATATATATATGGAATATAT ATATGGAATATATATATGGAATATATATATATGTGGAATATATATATATG TGGAATATATATATATGTGGAATATATATATGGAATATATATATATGTGG AATATATATATGGAATATATATATGGAATATATACATGGAATATATGTAT ATGGAATATATACATGGAATATGTGTATATGGAATATATACATGGAATAT ATATATGGAATATATACATGGAATATATATATGGAATATATACATGGAAT ATATATATATGGAATATATACATGGAATATATATATATGGAATATATACA TGGAATATATATATATGGAATATATACATGGAATATATATATATAGAATA TATACATGGAATATATATATGGAATATATACATGGAATATATATATATGG AATATATACATGGAATATATACATGGAATATATACATGGAACATATACAT GGAATATATACATGGAACATATACATGGAATATATATATATGGAACATAT ACGGAATATATATATGGAATATATATACGGAATATATATATATGGAATAT ATATACGGAATATATATATGGAATATATATACGGAATATATATATATGGA ATATATATACGGAATATATATATATGGAATATATATACGGAATATATATA TGGAATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2660		chr21	TogoVar
LGR6_chr1_202188799_202324761	202205268	A A	ACACACAC others(799): Show ACACACACACACCTAGCACACACTCCTCCACACACACACACCTAACACAC ACCTCCTTCAAACACACACACACCTCCAAACACACATACACCTCCAAACA CACACACACCTCCAAACACACATACACCTCCAAACACACACACCTAACAC ACACCTCCTTCAAACACACACCTCCAAACACACACACACCTAACACACAC ACCCCTCCTTCAAACACACACACACCTCCAAACACACACACACACCTAAC ACACACCTCCTCCAAACACACACACACCTCCAAACACACACACACCTAAC ACACACCTCCTCCAAACACACACACCTCCAAACACACACACACCTCCAAA CACACACACACCTAACACACACACCTAACACACACCTCCTTCAAACACAC ACACACCTCCAAAGACACACACACACACCTATCACACCTTCAAACACACA CACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACA CACACACCTAACACACACACACCTATCACACACCTCCTTCAAACACACAC ACCTAACACACCCGTCCTTCAAACACACACACACCACACACACATCTAAC ACCTCCTTCAGACACACACCTCCAAACACACACACACCTTACACACACCT TCAAACACACACACACCTCCACACACACACCTAACACACACCTCCTTCAA ACACACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACAC ACACACCTCCAAACACACACACCTAACACACACCTCCTTCAAACACACAC ACACCTC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01168.hp2 others(14): Show HG00673.hp1 HG01099.hp2 HG01168.hp2 HG01243.hp1 HG01257.hp2 HG01993.hp1 HG02074.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG03239.hp2 HG03654.hp1 HG03831.hp1 NA18970.hp2 NA18971.hp2 NA19088.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0004 a0004c0003 a0001c0001 a0003c0004 a0004c0003	a0001c0001t0001 a0003c0004t0001 a0004c0003t0002 a0001c0001t0001 a0003c0004t0001 a0004c0003t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0251 a0003c0004t0001g0220 a0003c0004t0001g0221 a0004c0003t0002g0101	17	260	0.0654	806	c.212 others(825): Show c.212+11078_212+11079insCTAGCACACACTCCTCCACACACACA CACCTAACACACACCTCCTTCAAACACACACACACCTCCAAACACACATA CACCTCCAAACACACACACACCTCCAAACACACATACACCTCCAAACACA CACACCTAACACACACCTCCTTCAAACACACACCTCCAAACACACACACA CCTAACACACACACCCCTCCTTCAAACACACACACACCTCCAAACACACA CACACACCTAACACACACCTCCTCCAAACACACACACACCTCCAAACACA CACACACCTAACACACACCTCCTCCAAACACACACACCTCCAAACACACA CACACCTCCAAACACACACACACCTAACACACACACCTAACACACACCTC CTTCAAACACACACACACCTCCAAAGACACACACACACACCTATCACACC TTCAAACACACACACACACCTAACACACACCTCCTCCAAACACACACACA CCTCCAAACACACACACACCTAACACACACACACCTATCACACACCTCCT TCAAACACACACACCTAACACACCCGTCCTTCAAACACACACACACCACA CACACATCTAACACCTCCTTCAGACACACACCTCCAAACACACACACACC TTACACACACCTTCAAACACACACACACCTCCACACACACACCTAACACA CACCTCCTTCAAACACACACACCTCCAAACACACACACCTAACACACACC TCCTTCAAACACACACACCTCCAAACACACACACCTAACACACACCTCCT TCAAACACACACACACCTCCACACACACAC	LGR6	ENSG00000133067.18	transcript	ENST00000367278.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAEA_chr4_1284891_1345137	1317118	T T	TCCCACAC others(799): Show TCCCACACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCAC ACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGCC CACCCCCGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCAC ACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCAC CTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCCC AGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCCACACTCCA GACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAG GCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCC CCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGA CTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGC CCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCC CACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACT CACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTC ACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCCA CACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTCA CCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCAC CCCAGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0168 a0001c0003t0001g0168	1	341	0.0029	806	c.456 others(823): Show c.456+1538_456+1539insCCAGGCCCACCCCGGCCCCCACACTCCA CACTCACCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCCCAGGC CCACCCCCGCCCCCACACTCCACACTCACCTGCAGGCCCACCCGGTCCCA CACTCCAGACTCACCCCCAGGCCCACCCCGGCCCCCACACTCCACACTCA CCTGCAGGCCCACCCGGTCCCACACTCCAGACTCACCCGCAGGCCCACCC CAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCAGTCCCACACTCC AGACTCACCCGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCA GGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGC CCCCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAG ACTCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGG CCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCC CCACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGAC TCACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCCGCAGGCT CACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCACCCCAGCCCCC ACACTCCAGACTCACCCGCAGGCTCACCCCAGCCCCCACACTCCAGACTC ACCTGCAGGCCCACCCCAGCCCCCACACTCCAGACTCACCTGCAGGCCCA CCCCAGCCCCCACACTCCAGACTCACCC	MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(799): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCCTCCCCTCCCCTCCCCCTTCC CCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTCCC CTCCCCTCCCCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCTCCT CCCTCCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCC TCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCT CCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCT TCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCC CCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTCCCCCTCCCCTCCCCCTCC CTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATC CCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCC TCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCC CTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCC CCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTC CTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTC CCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCC TCCCCAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0056 a0001c0056	a0001c0056t0008 a0001c0056t0008	a0001c0056t0008g0108 a0001c0056t0008g0108	1	8	0.1250	806	c.115 others(823): Show c.1157+156_1157+157insGTCCCCTCCCCTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCT CCCCTCCCCTCCCCCCCTCCCCCCTCCCCTCCTCCCTCCCCCCCTCCCCT CCTCCCTCCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTC CCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCC TCTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCT TCCCCTCCCCTCCCCTTCCCTCCCCCCTCCCCTTCCCCCTCCCCTCCCCC TCCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCC ATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTC GCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCC TCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCC TCCCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCT CTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCC CTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTC CCCTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MOCS1_chr6_39899170_39939462	39926745	G G	GGGAAGGG others(799): Show GGGAAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAG GAGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAG GGGGAGGGGGAAAAGGGGCGGGGAAGGGGGGGAAAAGGGGCGGGGGGAAG GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGG GGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGG GGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGG GGTGAGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGG GGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGG GGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGA GAGGGAGGGGGAGAGGGAGGGAAGGAGGGGGAGGGAGGGGGAGGGAAGGG AGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGAGGGA GGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGA GGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAG GGAGGGT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	213	0.0047	806	c.250 others(821): Show c.250+583_250+584insACCCTCCCTCCCCCTCCCCTCCCTCCCCCT CCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCCCC CTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTC CCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCTCCCCCTCCACTCC CCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTCCCC CTCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCT CCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTC CCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCCC CTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCC CTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCT TCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTCCCCC CCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCC CCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTT CCCCCCTTCCCCCCTTCCCCCCTTCC	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(799): Show AAGGGGGGAAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAG GGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGG GAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGG AAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGG AAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAA GGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTG AGGGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGA GGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGA GGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAG GGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGG GGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGGG AGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGG AGGGTGG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19070.hp2 NA19065.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0153 a0001c0001t0001g0165	2	9	0.2222	806	c.250 others(821): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCT TCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTC CCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTC CCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTTTTC CCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCC TCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTC CTTCCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MPPED1_chr22_43407014_43512848	43432640	A A	AGGGAGGA others(799): Show AGGGAGGAGAGAGAGGGAAAGAGAGAGAGAAGGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGGGAAAGAGAAAGGGAG GAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGG GAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGA GAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGG AGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAA AGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGA TAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18906.hp1 HG02109.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0007 a0001c0001t0002g0008	2	65	0.0308	806	c.225 others(823): Show c.225-2393_225-2392insGGAGGAGAGAGAGGGAAAGAGAGAGAGA AGGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAGAGA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGGGAAAGAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAG GGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATA AAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAG AGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGA GAGAGAGAGAAAGGGAGGAGAGAGAAAGGGAGGAGAGAGAGATAAAGGGA GGAGAGAGAGATAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAG AAAGGGAGGAGAGAGAGAGAAAGGGAGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
NXN_chr17_794310_984776	841420	C C	CGCATCTC others(799): Show CGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACACGGGCGAGCAGGT CCTCCCGACCACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCAT GGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCA CACGGGCGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGC AGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCCCCCG ACCATGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACGGTGCAT CTCACACGGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACACCCGC GAGCAGGTCCTCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTC CCGACCATGGAGCATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGA GCATCTCACACGGGCGAGCAGGTCCTCCCGACCACGGTGCATCTCACACG GGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGCAGGT CCTCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCA CGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCACAGCGCATCTCA CACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACCCGCGAGC AGGTCCCCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCCTCCCGA CCACGGT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	209	0.0048	806	c.361 others(825): Show c.361-15343_361-15342insACCGTGGTCGGGAGGACCTGCTCGCG GGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCGGGTGTGAGATGC GCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCGG GAGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAG ATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGCACCGTGG TCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACC TGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTG TGAGATGCGCCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCCG TGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCACCGTGGTCGGGAGG ACCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGGGGGACCTGCTCGCGG GTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCCGTGTGAGATGC GCTGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAG GGGGGACCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGCT CGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCCCGTGTGAG ATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CGGGAGGACCTGCTCGCGGGTGTGAGATGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(799): Show CACACCACACACATACACACTCCACACACACCACACATATATCACACACA CCACATACACACTCCACACACACCACACATACATCACACACACCATACAC CACACACACACCACACACTACACACCACACCCACCCACGCATACCACACA TATCCCCTTACATACCACACACATCCCCTACACACACGCCACATACACAC ACCATACACATCCCCCACAGACACACATACCCCTACATACCACACACATC CCCTACACACATGCCATACACACACCATACACATCCCCCACAGACACACA TACACACCACACACATACACAAACACTGCACACATACACACCCCACACAT ACAACACACACGACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACAACCATACAGACACAA ACACATACACCACACACACCACATACACAACAAACATGCCACACACAAAT ACCACACACACCACATACACACACCCCCCATTCACCACACACCACATACA CACCATTCACACTACACATACACTCCACACACACACCACATACACACCAT ACACACCACACATATCTCCACACACACACCACATACATACACATCCCATC CACACCACACACCCACACACACACACTCCAAACTCCACACACATACTCCA AACACCACACAAATACACCTACACACACATCACACACCCACACCACACAC ACACCACACAAACATGCCACACACATACCCCACACCATACACACACACAC ACCAAAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02559.hp2 others(12): Show HG02055.hp1 HG02145.hp1 HG02559.hp2 HG02630.hp2 HG02647.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0008t0001	a0001c0001t0001g0014 a0001c0001t0003g0009 a0001c0001t0003g0049 others(7): Show a0001c0001t0001g0014 a0001c0001t0003g0009 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0002t0003g0204 a0001c0008t0001g0054 a0001c0008t0001g0055	15	135	0.1111	806	c.201 others(823): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTATGTGTGTGGAGTTT GGAGTGTGTGTGTGTGGGTGTGTGGTGTGGATGGGATGTGTATGTATGTG GTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTGTG TGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAAT GGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTGT TGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGTG GTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTGT GTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGT GCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGTG TATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGGG TATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTGT AGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGGG TGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATGTA TGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGT GTGTGTGGAGTGTGTATGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(799): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATACATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATACATATACATATAT ATGCATATATGTGTATACATATACATATATATGCATATATGTGTATATAT ACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATAT ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	135	0.0074	806	c.31 others(817): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATACATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATACA TATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATGTGTGTATATATACATATACATGTATATGCA TATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TACATATACATATATATGCATATATGTGTATACATATACATATATATGCA TATATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTG TATATATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(799): Show ATGTATATATATGTGTATATATGCATATATGTATATGCATATGTGTATAT ATGCATATATGTATATGCATATGTGTATATATGCATATATGCATATGCAT ATGTGTATATATGCATATATGCATATGCATATGTGTGTATATATGCATAT ATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATAT GTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACAT ATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCAT ATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATAC ATATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGC ATATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATAT ACATATATATGCATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACATATACATGTATATGCATGTGTGTATATAT ACATATACATGTATATGCATATGTGTGTATATATACATATACATGTATAT GCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTAT ATATACACATATACATGTATATGCATATGTGTGTATACATATACATGTAT ATGCATATGTGTGTATACATATACATATATATGCATATATGTGTATATAT ACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATAT ATGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG02165.hp2 NA18992.hp2 others(1): Show HG00544.hp2 HG02165.hp2 NA18992.hp2 NA19062.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	4	138	0.0290	806	c.31 others(817): Show c.3116_*3117insTGTATATATATGTGTATATATGCATATATGTATA TGCATATGTGTATATATGCATATATGTATATGCATATGTGTATATATGCA TATATGCATATGCATATGTGTATATATGCATATATGCATATGCATATGTG TGTATATATGCATATATATGCATATGCATATGTGTGTATATATACATATA TATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATATG TGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACATA TATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCATA TGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATACA TATATATGCATATGCATATGTGTGTATATATACATATATATGCATATGCA TATGTGTGTATATATACATATATATGCATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACATATACATGTATATG CATGTGTGTATATATACATATACATGTATATGCATATGTGTGTATATATA CATATACATGTATATGCATATGTGTGTATATATACACATATACATGTATA TGCATATGTGTGTATATATACACATATACATGTATATGCATATGTGTGTA TACATATACATGTATATGCATATGTGTGTATACATATACATATATATGCA TATATGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTG TATATATACACATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PAK2_chr3_196734857_196837647	196811232	T T	TCCCTCCC others(799): Show TCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTCCCTTCCCTCCTTTC CTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTACCCTCCCTTCCCTCC CTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCCTTCCCTCCCTTCCTT CCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCTTCCTT CCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTC CCTCCCTTCCTTCCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCC CTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCT TCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTT CCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCC CTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTCCCCTCCCTCCCT CCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCTCCCCTCCCTCCCTTC CTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCCTTCC CTCCCTC	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0063 a0001c0003t0008g0063	1	148	0.0068	806	c.773 others(821): Show c.773+583_773+584insCCCTCCCTTCCCTCCCTTCCTTCCCTCCCT CCCTTCCCTCCTTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTA CCCTCCCTTCCCTCCCTCCCTTCCCTTCCTTCCTTCCCTCCTTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCT CCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTTCCTTCCCTTCCCTCCCTC CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCC CTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCT TCCCTCCCTTCCTTCCCTCCCTTCCTTCCCCTCCCTTCCCTCCCTCCCTT CCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTC CTTCCCTCCCTTCCTTCCCTCCCTTCCCTCCCTCCCTTCCTTCCCTTCCC TCCCTTCCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCTTCCCTTCCCTC CCTTCCCTCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCC CTCCCCTCCCTCCCTCCCTTCCCTTCCCTCCCTTCCCTCCCTTCCCTCCC TCCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCCTCCCTTCCCTCCCT CCCCTCCCTCCCTTCCTTCCCTTCCCTCCCTTCCCTCCCTCCCTTCCCTC CCTTCCTTCCCTTCCCTCCCTCCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar

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