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
MUSK_chr9_110663791_110811558	110690562	A A	ATATATAA others(659): Show ATATATAAAAATATATATATTTAAATATAAGTATATATTTAAATATATAT ACTTATATATAAGTATATATTTAAATATATATACTTATATATAAGTATAT ATATTTAAATATATACTTATATATAAGTATATATATAAATATATATACTT ATATATAAGTATATATAAATATATATACTTATATATAAGTATATATATTT ATATATACTTATATATAAGTATATATATTTATATATATACTTATATATAA ATATATATATTTATATATATACTTATATATAAGTATATATATAAATATAT ATACTTATATATAAGTATATATATAAATATATATATTTATATATAAGTAT ATATATAAATATATATACTTATATATAAGTATATATAAATATATATACTT ATATATAAGTATATATATTTATATATAAGTATATATATAAATATATATAT TTATATATAAGTATATATATATATTTATATATACGTATATATATATATTT ATATATAAGTATATATATATATTTATATATACGTATATATATATATTTAT ATATAAGTATATATATATATTTATATATAAGTATATATATATATTTATAT ATAAGTATATATATAAATATATATATTTAAATATAAGTATATATAAATAT ATATATTTAAATATAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0021 a0001c0001t0028g0021	1	324	0.0031	666	c.358 others(683): Show c.358+3300_358+3301insAAAATATATATATTTAAATATAAGTATA TATTTAAATATATATACTTATATATAAGTATATATTTAAATATATATACT TATATATAAGTATATATATTTAAATATATACTTATATATAAGTATATATA TAAATATATATACTTATATATAAGTATATATAAATATATATACTTATATA TAAGTATATATATTTATATATACTTATATATAAGTATATATATTTATATA TATACTTATATATAAATATATATATTTATATATATACTTATATATAAGTA TATATATAAATATATATACTTATATATAAGTATATATATAAATATATATA TTTATATATAAGTATATATATAAATATATATACTTATATATAAGTATATA TAAATATATATACTTATATATAAGTATATATATTTATATATAAGTATATA TATAAATATATATATTTATATATAAGTATATATATATATTTATATATACG TATATATATATATTTATATATAAGTATATATATATATTTATATATACGTA TATATATATATTTATATATAAGTATATATATATATTTATATATAAGTATA TATATATATTTATATATAAGTATATATATAAATATATATATTTAAATATA AGTATATATAAATATATATATTTAAATATAAGTATATA	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NEU4_chr2_241804193_241822413	241805669	A A	ACCCTCCC others(659): Show ACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAACCCAGGGACCTCCGC AGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA ACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAACCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCGCTC AGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAT GTCTGCAGGCCACCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	216	0.0046	666	c.-36 others(677): Show c.-3609_-3608insCCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCAA CCCAGGGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC CTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCGCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGATGTCTGCAGGCCACCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3523		chr2	TogoVar
NRCAM_chr7_108142649_108461436	108163992	G G	GGGGTAAT others(659): Show GGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATA CCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGG TGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCAT ACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGGGTAGT GAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGG GGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTC ATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTA ATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGT GGGGTGGGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGT CATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGG TAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGG TGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAG GTCATACCAGGTGGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp1 HG03209.hp1 others(1): Show HG01891.hp2 HG02280.hp1 HG03209.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0135 a0001c0001t0001g0148 others(1): Show a0001c0001t0001g0032 a0001c0001t0001g0135 a0001c0001t0001g0148 a0001c0001t0001g0149	4	191	0.0209	666	c.346 others(685): Show c.3466+2928_3466+2929insACCCCACCTGGTATGACCTCTCATTA CCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATG ACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCC CACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCAC TACCCCACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTAT GACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCATTACCCCACC CCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCA TTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGT ATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCA CCCCACCTGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCT CACTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCG GTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCACTACCCC ACCCCACCTGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTC TCATTACCGCCACCCCACCCGGTATGACCTCTCATTACCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164055	C C	CGGTAATG others(659): Show CGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACC GGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAG AGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCAGGTGGGGT GGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATAC CGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATG AGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGG TGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCAT ACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGT GAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGG GTGGCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCA TACCGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCGGTA ATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAGGTCATACCAGGTG GGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGT CATACCGGGTGGGGTGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	197	0.0051	666	c.346 others(685): Show c.3466+2865_3466+2866insCCACCCCACCCGGTATGACCTCTCAT TACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTA TGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCAC CCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACCTCTC ACTACCCCACCCCACCTGGTATGACCTCTCATTACCGCCACCCCACCCGG TATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACCCCA CCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACCTCT CATTACCGCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTG GTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCCC ACCCCACCCGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCT CTCATTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCT GGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTACC CCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCCGGTATGACCTCTCATTACC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(659): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0055 a0055	a0055c0173 a0055c0173	a0055c0173t0001 a0055c0173t0001	a0055c0173t0001g0037 a0055c0173t0001g0037	1	148	0.0068	666	c.292 others(681): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGT ACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552549	C C	CCCCACCT others(659): Show CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCT GTACTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCAC CTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0266 a0001c0028t0001g0266	1	148	0.0068	666	c.292 others(681): Show c.292+509_292+510insCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCTCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTC CCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGT CCTGTGTCCCCCACCTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTG TCCCTCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGTCC TGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC TCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PIGR_chr1_206923522_206951466	206924611	T T	TGAGTGTG others(659): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCA TGAGTGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTAT GAGTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTG TGTGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGT GTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCTCT GTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTGA TGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTGGT GTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGTG TGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGTA TGTAGTTATGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTGT GTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTACGAGTGTGTGTGTGCT CTGTCTAGTATGTGTGGTGTGTGGTTATGTGTGTGGTGTGCATCCATGAG TGTGTGTATGCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02257.hp2 HG02970.hp2 HG01496.hp1 HG02257.hp2 HG02970.hp2	a0004 a0008 a0004 a0008	a0004c0004 a0008c0010 a0004c0004 a0008c0010	a0004c0004t0004 a0008c0010t0020 a0004c0004t0004 a0008c0010t0020	a0004c0004t0004g0114 a0008c0010t0020g0085 a0008c0010t0020g0086 a0004c0004t0004g0114 a0008c0010t0020g0085 a0008c0010t0020g0086	3	18	0.1667	666	c.57 others(677): Show c.5706_*5707insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACATACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACGCAGTGACACACACTCATAACTACATACCACACACAACACAT AGCACACACACATAGCCACACACCACACATTCACACACACTCATAGCCAC ACACCACACATTCACACACACTCATAGCCACACACCACACATTCACACAC TCCACGGAGCACACACACACTCATGGACACACATCACACACACAATCACA CACACATAACCACACACCACACACACACTAGACAGAGCACACACACTCAT AGCCACACACCACACACACACTCCACAGAGCACACACACACACTCATAGC CACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACAC ACCACACACACACTCCACAGTGCACACACACTCATAGCCACACGCCACAC ACTTACACACTCTACAGAGCACACACACACTCATGGACACACACCACACA CACAATCACACACACATAACCACACACACACTAGACAGAGAACACACACA CTCATAACTACACACCACACACTCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		3910		chr1	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATAATTA others(659): Show TATAATTATATATAATTATATATAATTATATAATTATATATAATTGTATA TAATTATTTATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATATTATATAATTATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATTATATATTATTTA TTATATATATTATTTATTATATAATTATATATTATGTATTATATAATTAT ATAATTATATATTATGTATTATATAATTATATATTATGTATTATATAATT ATATAATTATATATTATGTATTATATAATTATATATTATTTATTATATAA TTATATAATTATATATTATTTATTATATAATTATATAATTATATATTATT TATTATATAATTATATAATTATATATTATTTATTATATAATTATATAATT ATATATTATTTATTATATAATTATATATTATTTATTATATAATTATATAT TATTTATTACATAAATATATATTATTTATTACATAAGTATATATCACTTA TTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTATTTA TTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTA TTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01346.hp2 HG01496.hp1 others(9): Show HG01074.hp2 HG01346.hp2 HG01496.hp1 HG01517.hp1 HG01934.hp1 HG02280.hp1 HG03139.hp2 NA18948.hp2 NA18999.hp2 NA19009.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0003 a0001c0002t0005 a0001c0002t0013 a0001c0003t0001 a0001c0003t0008 a0001c0003t0009 a0001c0005t0002 a0001c0009t0002	a0001c0001t0001g0092 a0001c0001t0004g0104 a0001c0002t0003g0075 others(9): Show a0001c0001t0001g0092 a0001c0001t0004g0104 a0001c0002t0003g0075 a0001c0002t0005g0060 a0001c0002t0013g0005 a0001c0003t0001g0034 a0001c0003t0001g0053 a0001c0003t0001g0098 a0001c0003t0008g0004 a0001c0003t0009g0059 a0001c0005t0002g0049 a0001c0009t0002g0100	12	36	0.3333	666	c.862 others(683): Show c.862+3417_862+3418insAATTATATATAATTATATATAATTATAT AATTATATATAATTGTATATAATTATTTATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTATATATTATATAATTAT ATAATTATATATTATTTATTATATAATATATAATTATATATTATTTATTA TATAATTATATATTATTTATTATATATATTATTTATTATATAATTATATA TTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTATA TATTATGTATTATATAATTATATAATTATATATTATGTATTATATAATTA TATATTATTTATTATATAATTATATAATTATATATTATTTATTATATAAT TATATAATTATATATTATTTATTATATAATTATATAATTATATATTATTT ATTATATAATTATATAATTATATATTATTTATTATATAATTATATATTAT TTATTATATAATTATATATTATTTATTACATAAATATATATTATTTATTA CATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATTATAT AATTGCATATAATTATTTATTATATAATTGTATATAGTTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662119	T T	TATATATA others(659): Show TATATATAATTATATATAATTATATATAATTATATAATTATATATAATTG TATATAATTATTTATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATATTATATAATTATATAATTATATATTAT TTATTATATAATATATAATTATATATTATTTATTATATAATTATATATTA TTTATTATATATATTATTTATTATATAATTATATATTATGTATTATATAA TTATATAATTATATATTATGTATTATATAATTATATATTATGTATTATAT AATTATATAATTATATATTATGTATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTATATAATTATATAATTATATAT TATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATAT AATTATATATTATTTATTATATAATTATATATTATTTATTATATAATTAT ATATTATTTATTACATAAATATATATTATTTATTACATAAGTATATATCA CTTATTATATAATTGCATATAATTATTTATTATATAATTGCATATAATTA TTATATAATTGTATATAGTTATTTATTATATAATTGTATATAGTTATTTA TTATATAATTCTATATA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0008 a0003c0015t0008	a0003c0015t0008g0002 a0003c0015t0008g0002	1	25	0.0400	666	c.862 others(683): Show c.862+3417_862+3418insATATAATTATATATAATTATATATAATT ATATAATTATATATAATTGTATATAATTATTTATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATATTATATAA TTATATAATTATATATTATTTATTATATAATATATAATTATATATTATTT ATTATATAATTATATATTATTTATTATATATATTATTTATTATATAATTA TATATTATGTATTATATAATTATATAATTATATATTATGTATTATATAAT TATATATTATGTATTATATAATTATATAATTATATATTATGTATTATATA ATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTATA TAATTATATAATTATATATTATTTATTATATAATTATATAATTATATATT ATTTATTATATAATTATATAATTATATATTATTTATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTACATAAATATATATTATTT ATTACATAAGTATATATCACTTATTATATAATTGCATATAATTATTTATT ATATAATTGCATATAATTATTATATAATTGTATATAGTTATTTATTATAT AATTGTATATAGTTATTTATTATATAATTCTATATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM16_chr1_3064203_3443621	3181307	C C	CGGCCTTA others(659): Show CGGCCTTACGCATGGTCTTACACACGCAGTCTTACACACGGTCTTACACA CGCAATCTTACACAAGCAGTCTTACACACGGTCTTACACACACGGTCTTA CACACGCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACA CACAGTCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCT TACACACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTA CACATGGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCT TACACAAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTA CACATGCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCT TACACACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCT TACACAGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTA CACACGCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGT CTTACACACAGTCTTACACATGCAGTCTTACACGCGGCCTTACACACGCA GTCTTACACGCGGTCTTACACACGCAGTCTTACACGCGGTCTTACGGTCT TACACACGCAGTCTTAT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0098 a0001c0002t0008g0098	1	170	0.0059	666	c.38- others(681): Show c.38-4816_38-4815insCCTTACGCATGGTCTTACACACGCAGTCTT ACACACGGTCTTACACACGCAATCTTACACAAGCAGTCTTACACACGGTC TTACACACACGGTCTTACACACGCAGTCTTACGGTCTTACACACGGTCTT ACACACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAG TCTTACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGG TCTTACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAG TCTTACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACAC GGTCTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGG TCTTACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACAC GGTCTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGG TCTTACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGG AGTCTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACAC GCGGCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAGTCTTAC ACGCGGTCTTACGGTCTTACACACGCAGTCTTATGG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRR22_chr19_5777960_5789746	5787204	G G	GGTGGGAG others(659): Show GGTGGGAGGTCGTGGGAGATGGTGGGAGGTAGTGGGAGACAGTGGCAGAC AGTGGGAGGTGGTGGGAGATGGTGGCAGACGGTGGGAGGTGGTGGGAGAC AGTGGGAAGTGGTGGGAGGTGGTGGGAGACGGTGGCAGGTGGTAGGAGAC GGTGGGAGGTGGTGGGAGACACTCGGAGACGGTGGGATGTGGTGGGAGGT AGTGGGAGACATTGGCAGACGGTGGGAGGTGGTGGGAGATGGTGAGAGGT GGTGGGAGACGGCGGGAGGTGGTGGGAGACGGCGGGAGGTGGTGGGAGAC GGTGGGAGGTGGTGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGAAGGTG GGATGTGGTGGGAGGTAGTGGGAGACACTGGCAGATGGTGGGAGGTCGTG GGAGATGGTGGGAGGTGGTGGGAGACGGTGGGAGACGGTGGGAGGTGGTG GGAGACGGCGGGAGGTGGTGGGAGGTGGTGGGAGACGGCGGGAGGTGGTG GGAGATGGCGGGAGGTGGTGGGAAGTGGTGGGAGACGGAGATGGTGGGAG ACGGTGGAGACGGCGGGAGGTGGAGGGAGGCGGCGGGAGATGGCGGGAGG TGGCAGGAGACGTGGGAGGTGGCAGGAGACGGTGGAGGTGGTGGTGGGAG GGGGAGGTGGGGAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0011 a0002c0002t0001g0011	1	2	0.5000	666	c.-25 others(677): Show c.-2545_-2544insTGTCTCCCCACCTCCCCCTCCCACCACCACCTCC ACCGTCTCCTGCCACCTCCCACGTCTCCTGCCACCTCCCGCCATCTCCCG CCGCCTCCCTCCACCTCCCGCCGTCTCCACCGTCTCCCACCATCTCCGTC TCCCACCACTTCCCACCACCTCCCGCCATCTCCCACCACCTCCCGCCGTC TCCCACCACCTCCCACCACCTCCCGCCGTCTCCCACCACCTCCCACCGTC TCCCACCGTCTCCCACCACCTCCCACCATCTCCCACGACCTCCCACCATC TGCCAGTGTCTCCCACTACCTCCCACCACATCCCACCTTCTCCGTCTCCC ACCACTTCCCACCACCTCCCACCACCTCCCACCGTCTCCCACCACCTCCC GCCGTCTCCCACCACCTCCCGCCGTCTCCCACCACCTCTCACCATCTCCC ACCACCTCCCACCGTCTGCCAATGTCTCCCACTACCTCCCACCACATCCC ACCGTCTCCGAGTGTCTCCCACCACCTCCCACCGTCTCCTACCACCTGCC ACCGTCTCCCACCACCTCCCACCACTTCCCACTGTCTCCCACCACCTCCC ACCGTCTGCCACCATCTCCCACCACCTCCCACTGTCTGCCACTGTCTCCC ACTACCTCCCACCATCTCCCACGACCTCCCAC	PRR22	ENSG00000212123.4	transcript	ENST00000419421.3	protein_coding		2459		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCCTCACC others(659): Show CCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCC TCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCC TCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCA CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCTC CTGTACCCCCTTACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCTTCACTTCCTCCTG TACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCA TCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCCCTCACCTCCTCCTGTACCCCCTCAC CTCCTCCTGTACCCCCT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0106 a0001c0002t0019g0106	1	87	0.0115	666	c.139 others(685): Show c.1396-1105_1396-1104insCTCACCTCTTCCTGTACCCTTCACTT CCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACCTCCTC CTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCT CACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGT ACCCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTAC CCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCC CCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTC CTGTACCCTTCACTTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGC CTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTG TGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RASA3_chr13_113972783_114137623	114010763	G G	GGAGGGGA others(659): Show GGAGGGGAAGGCGTGGGGAGGAGGGGGCCACATGGGGAGGAGCGGGCCGC GAGGGGAGGAGGGGGGCCGCGTGGGGGAGGAGGGGGCCACGTGGGGAGGA GGGGGCTGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCTTG GGGAGGAGGGGGCCGCGAGGGGAGGAGGGAGCCGCGTGGGGAGGAGGGGG CCGTGAGGAGAGGAGGGGGCCCCGTGGGGAGGAGGGGAAGGCGTGGGGAG GAGGGGGGGGCGCGTGGGGAGGAGGGGGCCGCGAGGGGAGGAGGGGGGCC GCGTGGGGAGGAGGGTGCCGCGTGGGGAGGAGGGGGGCGTGTGGGGAGGA GGCGCCGCGTGGGGAGGAGGGGGCCGTGAGGAGAGGAGGGGGCCCCGTGG GGAGGAGGGGAAGGCGTGGGGAGGAGGGGGGGCGCGTGGGGAGGAGGGGG CCGCGAGGGGAGGGAGGGGGCCGCGTGGGGAGGAGGCGCCGTGTGGGGAG GAGGGGGCCGCGTGGGGAGGAGGGGGCCCGCGTGGGGAGGAGGGGGCCGC GAGGGGAGGAGGGGGCCGCGTGGGGAGGAGGGGGCCGCGTGGGGAGGAGG GGGCCCGCGAGGGGAGGAGGGGGCTGTGTGGGGAGGAGGGGGCCCGCGAG GGGAGGAGGGGGGCCGC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0053 a0003c0006t0002g0053	1	3	0.3333	666	c.159 others(683): Show c.1590+407_1590+408insGCGGCCCCCCTCCTCCCCTCGCGGGCCC CCTCCTCCCCACACAGCCCCCTCCTCCCCTCGCGGGCCCCCTCCTCCCCA CGCGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCTCGCGGCCCCCTC CTCCCCACGCGGGCCCCCTCCTCCCCACGCGGCCCCCTCCTCCCCACACG GCGCCTCCTCCCCACGCGGCCCCCTCCCTCCCCTCGCGGCCCCCTCCTCC CCACGCGCCCCCCCTCCTCCCCACGCCTTCCCCTCCTCCCCACGGGGCCC CCTCCTCTCCTCACGGCCCCCTCCTCCCCACGCGGCGCCTCCTCCCCACA CGCCCCCCTCCTCCCCACGCGGCACCCTCCTCCCCACGCGGCCCCCCTCC TCCCCTCGCGGCCCCCTCCTCCCCACGCGCCCCCCCCTCCTCCCCACGCC TTCCCCTCCTCCCCACGGGGCCCCCTCCTCTCCTCACGGCCCCCTCCTCC CCACGCGGCTCCCTCCTCCCCTCGCGGCCCCCTCCTCCCCAAGCCTTCCC CTCCTCCCCACGGGGCCCCCTCCTCTCCTCACAGCCCCCTCCTCCCCACG TGGCCCCCTCCTCCCCCACGCGGCCCCCCTCCTCCCCTCGCGGCCCGCTC CTCCCCATGTGGCCCCCTCCTCCCCACGCCTTCCCCTC	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	16/23			chr13	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(659): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTC ACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	79	0.0127	666	c.-32 others(687): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGA GTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGG GCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(659): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00423.hp1 others(20): Show HG00140.hp1 HG00140.hp2 HG00423.hp1 HG00558.hp1 HG00639.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01993.hp1 HG02258.hp2 HG02300.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03710.hp2 NA18971.hp1 NA19085.hp1 NA19085.hp2 NA20129.hp2 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0002t0001 a0001c0002t0003 a0001c0003t0004	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 others(20): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0074 a0001c0001t0002g0148 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0014 a0001c0001t0003g0032 a0001c0001t0003g0055 a0001c0001t0003g0082 a0001c0001t0005g0147 a0001c0001t0007g0062 a0001c0001t0012g0023 a0001c0001t0015g0018 a0001c0002t0001g0063 a0001c0002t0003g0073 a0001c0003t0004g0151	23	101	0.2277	666	c.-32 others(687): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGT GAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGTT others(659): Show CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC GAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0029 a0001c0001t0092g0029	1	154	0.0065	666	c.655 others(683): Show c.655-9518_655-9517insTTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACGAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744785	T T	TAGCACAG others(659): Show TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAG CCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTC CTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0023 a0001c0004t0033g0023	1	137	0.0073	666	c.655 others(683): Show c.655-9212_655-9211insTTACTAGCACAGCCCTGGTTACGAGCAC TGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTA GCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAT GAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744785	T T	TAGCACAG others(659): Show TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGGCTACTA GCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0008 a0001c0017t0008	a0001c0017t0008g0031 a0001c0017t0008g0031	1	137	0.0073	666	c.655 others(683): Show c.655-9212_655-9211insTTACTAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTA GCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTAC GAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG CTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCC CTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744883	C C	CCCTGGCT others(659): Show CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG TTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTA GCACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTG TCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCC CTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0032 a0001c0014t0002g0032	1	150	0.0067	666	c.655 others(683): Show c.655-9104_655-9103insTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACGAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTA GCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGCTACTAGCACAGCCCTGGCTACTAGCAGAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG CTACTAGCACTGTCCTGGTTATGAGCACAGCCCTGGCTACTAGCACTGTC CTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTA GCACTGTCCTGGTTACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SBNO2_chr19_1102638_1179268	1148485	C C	CCACCCCA others(659): Show CCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAA CCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTT CCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTC ACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACC TCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCC CACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCAC CCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTC CCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCA CCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCC CAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCC GCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACC CTCCTTCACCCCAGAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCA GAAAACCTCCCGCCCCTTCCCACCCTCCTTCACCCCAGAAAACCTCCCGC CCCTTCCCACCCTCCTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0091 a0001c0005t0001g0091	1	121	0.0083	666	c.167 others(681): Show c.167+883_167+884insAAGGAGGGTGGGAAGGGGCGGGAGGTTTTC TGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAG GGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGC GGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTG GGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGG TGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGG GAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGG GTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTG GGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGA GGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGT GAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGG AAGGGGCGGGAGGTTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGG TTTTCTGGGGTGAAGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTGA AGGAGGGTGGGAAGGGGCGGGAGGTTTTCTGGGGTG	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	3/31			chr19	TogoVar
SCNN1D_chr1_1275436_1297025	1284171	G G	GGGGGTTG others(659): Show GGGGGTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGGGGGGTGGGGTGTT GGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGG GGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGG GTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGGGTTGGGT GAGGGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGGG TGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGGGGTTGG GTGAGGGGGTTGGGGGGGTTGGATGAGGGGGTTGGGGGGGGTTGGGTGAG GGGGGTGGGGTGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGTTGGGGG GGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGAG TGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGAGTGAGGGGGTTGGGGGG GTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGA GGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGG GTGGGGGGGTTGAGTGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0036 a0001c0036	a0001c0036t0006 a0001c0036t0006	a0001c0036t0006g0122 a0001c0036t0006g0122	1	164	0.0061	666	c.464 others(679): Show c.464+85_464+86insTTGAGTGAGGGGTCGGGGGGGGTTGGGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTCGGGGGGGGTTGAGTGAGGGGGGTGG GGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGG GGGTGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGGG TGGGGGGTTGGGTGAGGGGGGTGGGGGGTTGAGTGAGGGGGGTGGGGTGT TGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGG GGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGGG TTGGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGATGAGGGGGTTGGGG GGGGTTGGGTGAGGGGGGTGGGGTGGGGGGTGGGGTGGGGGGGTTGAGTG AGGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTC GGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGGGGGGTTGAGTGA GGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGTTGGGTGAGGGGGGTG GGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGG TGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289299	T T	TCCCGTGT others(659): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0001 a0007c0006t0001	a0007c0006t0001g0073 a0007c0006t0001g0073	1	247	0.0040	666	c.166 others(683): Show c.1663-959_1663-958insTCCGTCCCCCGTGTCTCTGCCCCGTCCC GTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(659): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATATTCCATATATATATATATTCCATATAT ATATATTCCATATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TATTCCATATATATATATTCCATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATTCCATATATATATATT CCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	230	0.0043	666	c.115 others(683): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATATGGA ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATGGAATA TATATATATATGGAATATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATATGGAATA TATATATATATGGAATATATATATATATATGGAATATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATATAT GGAATATATATATATATGGAATATATATATATATGGAATATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(659): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGACAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGAGA GGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGTTAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAG AGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0131 a0001c0004t0009g0131	1	337	0.0030	666	c.101 others(685): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGACAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGG TTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGG GTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGG TGGACAGGGTGGAGAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGTT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAG GGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGACAGGGTGGACAGG GTGGATAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431804	A A	ATAGGATG others(659): Show ATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGA TAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGTTAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCAGAGGGT GGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGATAGGGTGGATAGGGTGCAGAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGATAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGCAGAGGGTGGATAGGGTGCAGAGGGTGGAG AGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0309 a0002c0002t0001g0309	1	295	0.0034	666	c.101 others(685): Show c.1014-1163_1014-1162insTAGGATGGTTAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGATAGGGTGCAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGGG TGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGATAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGCAGAGGG TGGATAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGGT	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9			chr1	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(659): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGGA GAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGAG AAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGAG GGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGTG AAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAGG AGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAGG AGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAGG GGAGGAGGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAG AGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAGGAG GGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAAGAG TCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAGGAA GAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0096 a0002c0003t0001g0096	1	2	0.5000	666	c.624 others(681): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCCTCCTCCCCTCTTCTCTCCT CCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCTCC TTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCTCC TTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCTCC TCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCTCC TCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCCTC CCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTATTC TCCCTCCTCTCCCTTCTCCCCTTCACTTCTTCCTTCTCCTTCTTTCCTTC CTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC44A5_chr1_75197129_75616114	75280139	T T	TATATATT others(659): Show TATATATTGTATATCTAATATATATTATATATATTTTATATTGTATATAT AATATATATAGTATATATTATATATTGTATATAATATATATAGTATATAT TATATATTGTATATAATATATATAGTATATATTATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATAATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATATTGTATATATTATATATTGTATATATAATATA TATATTGTATATATTATATATTGTATATATAATATATATATTGTATATAT TATATATTGTATATATA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	123	0.0081	666	c.176 others(683): Show c.176-5098_176-5097insTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACAATATATATATTATATATACAAT ATATAATATATACAATATATATATTATATATACAATATATAATATATACA ATATATAATATATACTATATATATTATATACAATATATAATATATACTAT ATATATTATATACAATATATAATATATACTATATATATTATATATACAAT ATAAAATATATATAATATATATTAGATATACAATATAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1422744	C C	CCACAGTG others(659): Show CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCATGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGC CCACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCAAGGTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGGTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGTGCCCACCGCTGC CCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCC ACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGC CCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGCCCACAGTGCTGC TCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGCCCACGGTGCTGG GTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02129.hp1 HG02040.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0102 a0001c0001t0002g0057 a0001c0001t0002g0102	2	188	0.0106	666	c.654 others(681): Show c.654-731_654-730insTGGGCAGCGGTGGGCACCCAGCACCGTGGG CAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTGAGCAGCACTGTGGG CAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCGGTGGGCACCCAGCACCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCACCTTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCATGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTG GGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGGG CAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SMIM36_chr17_55444856_55516452	55501091	T T	TCATATTT others(659): Show TCATATTTTATATTATAATATATAATATATATTATATTTTATAATATATA ATATATATTATATTTTATAATATATAATATATTATATTTTATAATATATA ATATATTATATTTTATAATATATAATATATTATATTTTATAATATATAAT ATATTATATTTTATAATATATAATATATTATATTTTATAATATATAATAT ATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATAT AATATATTATAATATATAATATATTATATTTTATAATATATAATATATAA TATATTATAATATATAATATATTATATATTATAATATATAATATATTATA TATTATAATATATAATATATTATATTTTATAATATATAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAATATATTATATTTT ATAATATATAAAATATTATATTTTATAATATATAAAATATTATATTTTAT AATATATAAAATATATTATATTTTATAATATATAAAATATATTATATTTT ATAATATATAATATATATTATATTTTATAATATATAATATATATTATATT TTATAATATATAATATATATTATATTTTATAATATATAATATATATTATA TTTTATAATATATAATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	338	0.0030	666	c.17 others(685): Show c.174+9787_*174+9788insTATTATATATTATAAAATATAATATA TATTATATATTATAAAATATAATATATATTATATATTATAAAATATAATA TATATTATATATTATAAAATATAATATATATTATATATTATAAAATATAA TATATTTTATATATTATAAAATATAATATATTTTATATATTATAAAATAT AATATTTTATATATTATAAAATATAATATTTTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATA TATTATATATTATAAAATATAATATATTATATATTATAATATATAATATA TTATATATTATAATATATAATATATTATATATTATAATATATTATATATT ATATATTATAAAATATAATATATTATATATTATAATATATTATATATTAT ATATTATAAAATATAATATATTATATATTATAAAATATAATATATTATAT ATTATAAAATATAATATATTATATATTATAAAATATAATATATTATATAT TATAAAATATAATATATTATATATTATAAAATATAATATATTATATATTA TAAAATATAATATATTATATATTATAAAATATAATATATATTATATATTA TAAAATATAATATATATTATATATTATAATATAAAATATG	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(659): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGAGGGAAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAG GGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG03927.hp2 HG04204.hp1 others(1): Show HG01081.hp2 HG03927.hp2 HG04204.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	138	0.0290	666	c.12 others(677): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTTCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCT CCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTC CCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCC CCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTC CTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCT CTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCC CTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCT CTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(659): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAG GAGGGAGGGGAGAGGGGAGCGGGGAGGGGGAGAGGGGAGAGGAGGGGGAG GGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	666	c.12 others(677): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCGCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCT CCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTC CCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCC CCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTC CTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCT CTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCC CTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCT CTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(659): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGAA GGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAG GGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00597.hp2 others(19): Show HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp1 HG01070.hp2 HG01071.hp1 HG02074.hp1 HG02132.hp2 HG02300.hp1 HG02965.hp1 HG03239.hp2 HG03491.hp1 HG03831.hp2 NA18945.hp1 NA18945.hp2 NA18998.hp1 NA19005.hp2 NA19056.hp2 NA19070.hp1 NA19080.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	22	156	0.1410	666	c.12 others(677): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCC CTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCC TCCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCT CCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTC CCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCC CCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTC CTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCT CTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCC CTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCT CTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(659): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGATGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGG GGAAGGGGAAGGGGGAGGAGGGGGGGAGGAGGGAGGGGGAGGGGAGGGGA AGGGGGAGGAGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGA GGAGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAG GGGAGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGAAGGGGGAG GAGGGAGGGGAGAGGGGAGGGGGGAGGGGGAGAGGGGAGAGGAGGGGGAG GGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	135	0.0074	666	c.12 others(677): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCTTCC CCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCC TCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCC CCCTTCCCCTCCCCTCCCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCT CCCTCCTCCCCCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTC CCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCC CCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCC CTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCCTC CTCTGCCCTCCCCTCCCCTCTCCCCATCCCCCTTCCCCCTCCCCTCTCCT CTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCC CTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCT CTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCC CTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMOC2_chr6_168436184_168672992	168594474	C C	CGAGCATC others(659): Show CGAGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTC ACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTTCCTGAGGCCT CACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGGCA TCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTTCTTCCTGAGGC CTCACGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTGAGG CCTCACGGGCATCTTTCTAGAGGATCGCTGAGCTCCTCCTCCTTCCTGAG GCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAGGC CTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCCTG AGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTTCCTAAG GCCTCACAAGGGGCATCTTTCTAGAGGATCTCCGAGCTCCTCCTCCTTCC TGAGGCCTCACGGGCATCTTTCTAGAGGATCGCGGAGCTCCTCCTCCTTC CTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCTCCTCCTCCTT CCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCCGAGCTCCTCCTCCT TCCTGAGGCCTCACGAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	149	0.0067	666	c.638 others(683): Show c.638-4343_638-4342insAGCATCTTTCTAGAGGATCGCCGAGCTC CTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCCGAGCT CCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGAGC TCCTCCTCCTTCCTGAGGCATCACGGGCATCTTTCTAGAGGATCTCCGAG CTCCTCCTTCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCTCCGA GCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATCGCTG AGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGGCC GAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATCTC CGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGATGG CCGAGCTCCTCCTTCCTAAGGCCTCACAAGGGGCATCTTTCTAGAGGATC TCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGAT CGCGGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGGA TGGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGGGCATCTTTCTAGAGG ATCGCCGAGCTCCTCCTCCTTCCTGAGGCCTCACGAGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNTG2_chr2_945849_1372613	1221592	C C	CTCTGCCT others(659): Show CTCTGCCTCTGTCTCTGCCTCTCTGTGTCTCTCTGCCCCTCCCTCTGTCT CTCTCTGTCCCTCTCAGTCTCTGGTTTTGTCTCTGTCTCTCTCTGTCTCT GCCTCTGCCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTCTGTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCT CTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCC CTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGT CTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGT CTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCT CTCTCTGTCTCTCTCTG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	160	0.0063	666	c.719 others(685): Show c.719+12362_719+12363insTCTGCCTCTGTCTCTGCCTCTCTGTG TCTCTCTGCCCCTCCCTCTGTCTCTCTCTGTCCCTCTCAGTCTCTGGTTT TGTCTCTGTCTCTCTCTGTCTCTGCCTCTGCCTCTCTCTGTCTCTGCCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTC TCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTC TCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTG CCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCC TCTCTCTGTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTC CCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTT AGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCC TCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(659): Show CATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAAT ATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTA TATAATATATAAAATATATTATAGTTTATATAATATATACACATATATTA TAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACAC ATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAAT ATATACACATATATTATAGTTTATATAATATATACACATATATTATAGTT TATATAATATATACACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATA AACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATAT AATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATA GTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0299 a0001c0001t0001g0299	1	82	0.0122	666	c.12+ others(681): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAAAT ATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATA TAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATAT AATATATACACATATATTATAGTTTATATAATATATACACATATATTATA GTTTATATAATATATACACATATATTATAGTTTATATAATATATACACAT ATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATAT ATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTTA TATAATATATACACATATATTATAGTTTATATAATATATAAACATATATT ATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAA CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SPAAR_chr9_35904490_35916686	35914334	G G	GAGTGTGT others(659): Show GAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTGTAAGCTGTATGTGTG TAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTG TAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATG TGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGT GTAAGTTGTATGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp1 NA18997.hp1 HG01257.hp1 HG01258.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	359	0.0084	666	c.36 others(677): Show c.3643_*3644insAGTGTGTGTATTTTTGTATGCTGTGGTGTGTGTG TAAGCTGTATGTGTGTAGTGTGTGTGTGTTTGTATGCTGTGGTGTGTGTG TAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTG TGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGG TGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCT GTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTGTGTGTTTTTGTA TGCTGTGGTGTGTGTGTAAGTTGTATGTGTGT	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2649		chr9	TogoVar
SPATA6_chr1_48290373_48477204	48384325	G G	GGAGGGAG others(659): Show GGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0168 a0001c0001t0002g0168	1	283	0.0035	666	c.909 others(681): Show c.909+983_909+984insTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SPATA6	ENSG00000132122.12	transcript	ENST00000371847.8	protein_coding	9/12			chr1	TogoVar
TAFA5_chr22_48484553_48756932	48620724	A A	ACCATCCC others(659): Show ACCATCCCCCATCGTATCCACCCACCCACCATCCCCCATCCTATCTACCC CCCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATCCA CCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCCTA TCCACCCCCCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATC CTATCCACCCACCCACCATCCCCCATCCTATCCACCCACCCACCATCCCC CATCCTATCCACCCCCCCACCATCTCCCATCCTATCCACCCCCCCCACAT CCATCCTATCCACCCACCCACCCACCATCCACCATCCTATCCACCCACCC ATCATCCACTATCCATCCACCACCCCCACACCCATCCTATCCACCCACCC ATCATCCACCATCCACTCACCCTCCATCCACTATCCATCCACCCACCCGC CATCCACCCACCATCCCCCATCCACCTACTCACCCACCCGTTCTATACAT CTACCTACCCATTCTGTCTGTCCACCCACCCATCATATCCATCCACCCAC CTACCCATCCATCCTATCCATCCACCCATCCACCCACCGTATCTATCCAC CCACCCACACTGTCCATCCACCCACCCACCCATCCACCCACCCACCTATC CTATTCATCCATCCACC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19066.hp1 NA19010.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0139 a0001c0001t0002g0085 a0001c0001t0002g0139	2	29	0.0690	666	c.113 others(685): Show c.113-25872_113-25871insCATCCCCCATCGTATCCACCCACCCA CCATCCCCCATCCTATCTACCCCCCCACCATCCCCCATCCTATCCACCCC CCATCATCCACCATCCTATCCACCCCCCCACCATCCCCCATCCTATCCAC CCACCCACCATCCCCCATCCTATCCACCCCCCATCATCCACCATCCTATC CACCCCCCCACCATCCCCCATCCTATCCACCCACCCACCATCCCCCATCC TATCCACCCACCCACCATCCCCCATCCTATCCACCCCCCCACCATCTCCC ATCCTATCCACCCCCCCCACATCCATCCTATCCACCCACCCACCCACCAT CCACCATCCTATCCACCCACCCATCATCCACTATCCATCCACCACCCCCA CACCCATCCTATCCACCCACCCATCATCCACCATCCACTCACCCTCCATC CACTATCCATCCACCCACCCGCCATCCACCCACCATCCCCCATCCACCTA CTCACCCACCCGTTCTATACATCTACCTACCCATTCTGTCTGTCCACCCA CCCATCATATCCATCCACCCACCTACCCATCCATCCTATCCATCCACCCA TCCACCCACCGTATCTATCCACCCACCCACACTGTCCATCCACCCACCCA CCCATCCACCCACCCACCTATCCTATTCATCCATCCACCC	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46859070	G G	GATAGAGG others(659): Show GATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTT TTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTT TTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCC TTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATC CTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAAT CCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGA ATCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAG AATCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCA GAATCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACC AGAATCCTTTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGAC CAGAATCCTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG ACCAGAATCCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGG GACCAGAATCCTTTTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0017 a0001c0001t0022g0017	1	96	0.0104	666	c.638 others(685): Show c.638-19552_638-19551insTGGGACCAGAATCCTTTTTTGATAGA GGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAG AGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATA GAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTTCGAT AGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCGA TAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTTTT GATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT CGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTT TCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTT TTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCC TTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAAT CCTTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAA TCCTTTTCCATAGAGGTCCGCGCAGTGCTGTGCCCCTTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377340	C C	CTCTGTGC others(659): Show CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCT CTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTGTGTGCCCC CACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTG CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTC TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCC CTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTC CCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCC AGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCAC CCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0083 a0001c0006t0002g0083	1	168	0.0060	666	c.-13 others(677): Show c.-1371_-1370insAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACA GAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAG AGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGA	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1315		chr19	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(659): Show CACCACCACCATCACTACCACCACCACCACCCCCATCACTACCATCATCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCAGCATCACCACCACCACCACCACC ACCACCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCA CCACCACCACCACCACCACCACCACCACCACCATCACCACCAGCATCACC ACCATCACCACCACCATCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACGACCACCACCAGCACCACCATCACCACCATCACCA CCACCACCACCATCACT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0021 a0002c0006t0021	a0002c0006t0021g0061 a0002c0006t0021g0061	1	34	0.0294	666	c.497 others(687): Show c.497-100451_497-100450insCCACCACCATCACTACCACCACCA CCACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA GCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACC AGCATCACCACCACCACCACCACCACCACCACCATCACCACCAGCATCAC CACCATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCA CCACCAGCATCACCACCATCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCATCACCACCACGACCACCACCA GCACCACCATCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(659): Show CTCTCCCCTCCCCTCTCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCC CTCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCCCCCC CTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCC CCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCTCTCCCTCTCCCCTCTCCCTCCCTCC CCCTCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCTCT GCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0017 a0017	a0017c0032 a0017c0032	a0017c0032t0002 a0017c0032t0002	a0017c0032t0002g0062 a0017c0032t0002g0062	1	10	0.1000	666	c.-25 others(685): Show c.-25-12103_-25-12102insCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTC TCCCCTCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCTTCC CCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCC CTCCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCTCTCCCCTCTCCCTCC CTCCCCCTCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTC CCCTCCCCCCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(659): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCCTATCCCCT CCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCC CCCTCTCCTCTCCCCTCCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	10	0.1000	666	c.-25 others(685): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCC CCTCTCCTCTCCCCTCCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(659): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCC CCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	10	0.1000	666	c.-25 others(685): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCCCTCCCTTCC CCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCC CCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCC others(659): Show CTCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCT CCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACC CCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTC CTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCC CTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTT CCCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCTCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCC CCCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCC CCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0024 a0007c0012t0001g0024	1	10	0.1000	666	c.-25 others(685): Show c.-25-12098_-25-12097insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCC CTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCC TCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCTCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTCCCCTCCCCTTC CCCTCCCCCCTCCCTTCCCCTCCCCCTCCCCTCCCCTCCCTCCCTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCT CCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCC CCCTCTCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCTCCCTTTCCTTCTCCCCTCCCCTCTCCCCTCCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930878	G G	GGGTTAGG others(659): Show GGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGG GAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGACCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGG GTTAGGAAGGCTGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTT AGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGA GGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGG GAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGG CCAGGGTTAGGGAGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	371	0.0027	666	c.47 others(677): Show c.4712_*4713insGGCCTCCCTAACCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGG CCTCCTTAACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTG ACCCTTGGTCTCCCTAACCCCAGCCTTCCTAACCCCCAGCCTCCCTACCC TGGCCTCCCTAACCCCTGGTCTCCCTAACCCCGGCCTCCCTAACCCCAGC CTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACC CCGGCCTCCCCAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCCAACCCCTGGCCTCCCTAACC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4491		chr11	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(659): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCAG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCT TCATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCC TGTGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAAT AGAAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACC CTCCAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGG AAGGAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGA TTGCCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAA GTCTCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0053 a0001c0001t0060g0053	1	2	0.5000	666	c.-32 others(677): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGT GCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC AGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCC AGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCA GGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAA AGTGCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
VAMP2_chr17_8154149_8167948	8166152	G G	GGCGCAGT others(659): Show GGCGCAGTGGTTCAGGCCTGTAATCCCAGCACTTTGGGAGGCGGAGGCGG GTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAA CCCCATCTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCA CCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCTGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCAGAGATCGCACCACTGCACTCCAGCC TGGGCTACAGAGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAAGAAAGGAGCTGGGTCGTTCCCACACTGACTCATGAACTTGCT TCATCCACATGAATCAAACCTGACTGAACTTATAATTAATTTCAGAGGCC TGTGTGTCCCTCAGTGCAGCTTGTGAAGTAAAGGCCTTCTAATGAGTAAT AGAAAGGTCAGCCCTCCACCATTGCAATCAGCTGTGACGTCTGGTGAACC CTCCAGGCCACAAGGTTCTCAGAGCTGCCTGTCCAGCTCTGGGCTCCTGG AAGGAGGGGACACTCCAGGGACCCACTGTGTGCCAGACAGTTGGCATGGA TTGCCACATGTGCTCAATTTGTTTTTATTTTTACTTATTTTTGAGACGAA GTCTCACTCTTTCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA18906.hp1 NA19240.hp1 HG03471.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0037 a0001c0001t0032g0045 a0001c0001t0032g0037 a0001c0001t0032g0045	3	4	0.7500	666	c.-32 others(677): Show c.-3274_-3273insTGGCGAAAGAGTGAGACTTCGTCTCAAAAATAAG TAAAAATAAAAACAAATTGAGCACATGTGGCAATCCATGCCAACTGTCTG GCACACAGTGGGTCCCTGGAGTGTCCCCTCCTTCCAGGAGCCCAGAGCTG GACAGGCAGCTCTGAGAACCTTGTGGCCTGGAGGGTTCACCAGACGTCAC AGCTGATTGCAATGGTGGAGGGCTGACCTTTCTATTACTCATTAGAAGGC CTTTACTTCACAAGCTGCACTGAGGGACACACAGGCCTCTGAAATTAATT ATAAGTTCAGTCAGGTTTGATTCATGTGGATGAAGCAAGTTCATGAGTCA GTGTGGGAACGACCCAGCTCCTTTCTTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCTCTGTAGCCCAGGCTGGAGTGCAGTGGT GCGATCTCTGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC AGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACGCCC AGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACTGTGTTAGCCA GGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTCCGCCTCCCAA AGTGCTGGGATTACAGGCCTGAACCACTGCGC	VAMP2	ENSG00000220205.10	transcript	ENST00000316509.11	protein_coding		3205		chr17	TogoVar
YBEY_chr21_46281342_46302751	46292548	A A	ACAGCCAC others(659): Show ACAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTCAGCCTG ACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGAT TAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGAC AGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGAC CCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTA AATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAG CCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCC ATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAA TTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCC ACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGT GCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCTAGATTAAATT CCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGC CCGGGACTCAGTGGAGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	308	0.0032	666	c.339 others(683): Show c.339+1093_339+1094insACAAGTTAAACTCTAGATTAAATTCCTC CCGCGGTCAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACACAA GTTAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGGGACAGCCACGCAAGTTAGACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGT TAAACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGA CTCAGTGGAGTCAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGC GGTTAGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTTA AACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACT CAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGG TTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGA CTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCATGCCCGGGACTCA GTGGAGTCAGCCACGCAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTT AGCCTGACCCATGCCCGGGACTCAGTGGAGTCAGCCAC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar

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