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
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(854): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTGGATG GATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGGGGGTGGGTGGATGGA CGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGATGGATGGATGGATG GATGCATGGATGGATGGATGGAGAGGTGGGTGGATGGGTGGATGGACAGA AGGATGGATGGGTGGGGAGGTGGGTGAGTGGGTGGATGGATGAATGGGGA GGTGGATGGATGGATGGATGGATGAAGGATGGATGGGTGGGGAGGTGGGT GGACGGATGGATGGATTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGG ATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGT GGATGGATGGATGGTTAGATGGGGAGGTGGGTGGATGGGTGGATGGACAG AAGGATGGATGGGTAGGGAGGTAGGTGAGTGGATGGATGGATGGGGAGAT GGATGGATGGATAGAGAGAAGGATGGATGGGTGGGACAATGGATGGATGG ATGGATAGAAGGATGGACGGGTGGGGAGATGGATGGATGGATGGATGGAT GGATGGACAGAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02148.hp1 HG01978.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0054 a0001c0003t0001g0054	2	103	0.0194	861	c.772 others(876): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCCATTGTCCC ACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCATCCATCCAT CCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCCACCCATCC ACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCATCCATCCAT CCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCC ATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCCCCACCCAT CCATCCTTCATCCATCCATCCATCCATCCACCTCCCCATTCATCCATCCA CCCACTCACCCACCTCCCCACCCATCCATCCTTCTGTCCATCCACCCATC CACCCACCTCTCCATCCATCCATCCATGCATCCATCCATCCATCCATCCA CCCACCCACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACC CATCCATCCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCA TCCATCCACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACC CACCCACCCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCA TCCATCCATCTATCCATCTATCCATCTCTCCGTCCATCCACCCACCCCCC CACCCACCTCCCCACCCATCCATCCTTCTATCCATCCACCCATCCATCCA TCCATCCATCCATCCCTCCCCATCCATCCATCCATCTCCCTACCCATTCA TCCTTCTGTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(854): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGT GGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTG ATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGG TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0189 a0003c0002t0001g0189	1	230	0.0043	861	c.190 others(880): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGAT GGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG AGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
FCMR_chr1_206898317_206926941	206924611	T T	TGAGTGTG others(854): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGGTGTGTGTCCATGAG TGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTATGAGT GTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTG TGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCTC TGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTG ATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTGG TGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGT GTGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGT ATGTAGTTATGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTG TGTGCGCACTCTATGCTCTGTCTAGTGTGTGTGTGGTTGAGTGTGTGAGT GTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTCTAGTGTGTGTGGT GTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCATGAGTGTG TGTGCTCTGTAGAGTGTGTGAGTGTGTGGCGTGTGGCTATGAGTGTGTGT GTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGTGCT CTGTGGAGTGTGTGTGTGGTGTGTGGCTACGAGTGTGTGTGTGCTCTGTC TAGTGTGTGTGGTGTGTGGTTATGTGTGTGGTGTGCATCCATGAGTGTGT GTATGCTCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	16	0.0625	861	c.-27 others(872): Show c.-2758_-2757insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCAC ACACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAA CACACACACTCATAACTACACACCACACACTCACACACTCAACCACACAC ACACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACC ACGCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACA CACACATAGCCACACACCACACATTCACACACACTCATAGCCACACACCA CACATTCACACACACTCATAGCCACACACCACACATTCACACACTCCACG GAGCACACACACACTCATGGACACACATCACACACACAATCACACACACA TAACCACACACCACACACACACTAGACAGAGCACACACACTCATAGCCAC ACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACACACC ACACACACACTCCACAGTGCACACACACACTCATAGCCACACGCCACACA CTTACACACTCTACAGAGCACACACACACTCATGGACACACACCACACAA TCACACACACATAACCACACACACACTAGACAGAGAACACACACACTCAT AACTACACACCACACACTCACACACTC	FCMR	ENSG00000162894.12	transcript	ENST00000367091.8	protein_coding		2671		chr1	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCACCACC others(854): Show CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCATCACCACCACCACCACCACCACCACCATCACC ACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCAT CACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCA CCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCATCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA TCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCACCA CCACCACCATCACCACCACCACCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	286	0.0035	861	c.666 others(878): Show c.666+1792_666+1793insTCACCACCACCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCACCATCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCATCACCACCACCACCATCACCACCATCACCACCACCACCATCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCAC CATCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCA CCACCATCACCACCACCATCACCACCACCACCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
ICA1_chr7_8108184_8267167	8152796	T T	TCCACCAC others(854): Show TCCACCACCACCACCACCACCACCACCATCTCCTTCAACACCACTACCCC CACCACTACCACCATCACCTCCACCACCACCACCATCTCCTTCAACACCA CTACCCCCACCACTACCACCATCACCATCACCTCCACCACCACCACCATC TCCTTCATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCAC CACCACCACCATCTCCTTCAACACCACTACCCCCAGCACTACCACCATCA CCTCTTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACC ACCATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTC CTCCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTA CCCCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCC TTCAACACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCAC CACCACCATCTCCTTCATCACCACTACCCCCACCACTATCACCATCACCA TCACCTCCACCACCACCACCATCTCCTTCAACACCACTACCCCCAGCACT ACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTAC CACCACCACCACCATTATCTCCTTCATCACCACTACCCCCACCACTACCA CCATCACCTCCTCCACCATCACCACCACCACCACAACCACCATCTCCTTC ATCACCACTACCCCCACCACTATCACCATCACCATCACCTCCACCATCAC CACCACCATCTCCTTCAACACCACTACCCCCACCACTATCACCATCACCT CCTCCACCATCA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	149	0.0067	861	c.804 others(878): Show c.804+4319_804+4320insTGATGGTGGAGGAGGTGATGGTGATAGT GGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGATGGTGGAGGTGA TGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTT GTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGGGGT AGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTGGTGGTGGAGG AGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCTGGGGGTAGTG GTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGATGGTGATAGT GGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTGGAGGTGATGG TGATGGTGATAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTG GTGGAGGTGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGA GATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAG TGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAGTG GTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGCT GGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGGTGATGGTGA TGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTGGTGGTGGTG GAGGTGATGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGAT GGTGGTGGTGGTGGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGTTGA AGGAGATGGTGGTGGTGGTGGTGGTGGTGGTGG	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(854): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACACGGAAC ATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATATGCAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0217 a0002c0002t0002g0217	1	204	0.0049	861	c.-36 others(872): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAACA TATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(854): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGTATATATGGAACATATATACATATATGGAA CCAATACATACATGGAACATATATATGTGGAACCAATACATACATGGAAC ATATATATGTGGAACCAATACATACATGGAACATATATATGTGGAACCAA TACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATAT ATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACA TATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATAT GTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATATA CGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGG AACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATCTGGAACCAATACATATACGGAACATATATATCTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATATGCAACATATAT ATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACATA TATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	204	0.0049	861	c.-36 others(872): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGGAACCAATACATACATGGAACATATATATGTGGAACCA ATACATACATGGAACATATATATGTGGAACCAATACATACATGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATAT ACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGG AACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAAC CAATACATATACGGAACATATATATCTGGAACCAATACATATACGGAACA TATATATCTGGAACCAATACATATACGGAACATATATATGTGGAACCAAT ACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATA TATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACAT ATATGCAACATATATATGTGGAACCAATACATATATGCAACATATATATG TGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33323136	T T	TATATATA others(854): Show TATATATATATGGAATATATACGTATGGAATATATATATATGGAATATAT ACGTATGGAATATATATATGGAATATATACGTATGGAATATATATATGGA ATATATACGTATGGAATATATATATATATGGAATATACGTATGGAATATA TATATATGGAATATACGTATGGAATATATATATATGGAATATACGTATGG AATATATATATATGGAATATATATGTATGGAATATATATATGGAATATAT ATGTATGGAATATATATATGGAATATATATGTATGGAATATATATATGGA ATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATATA TGTATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGG AATATATATATGGAATATATATGTATGGAATATATATATGGAATATATAT ATGGAATATATATGTATGGAATATATATATGGAATATATATGTATGGAAT ATACATATGGAATATATATGTATGGAATATACATATATGGAATATATATG TATGGAATATACATATATGGAATATATGTATGGAATATATATATGGAATA TATGTATGGAATATATATATATGGAATATATGTATGGAATATATATATAT GGAATATATGTATGGAATATATATATATGGAATATATGTATGGAATATAT ATATGGAATATATGTATATGGAATATATATATGGAATATATGTATATGGA ATATATATATGGAATATATGTATATGGAATATATATATGGAATATATATA TATGGAATATATATATGGAATATATATATATGGAATATATATATGGAATA TATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0187 a0002c0002t0002g0187	1	205	0.0049	861	c.-19 others(872): Show c.-1920_-1919insATATATATATGGAATATATACGTATGGAATATAT ATATATGGAATATATACGTATGGAATATATATATGGAATATATACGTATG GAATATATATATGGAATATATACGTATGGAATATATATATATATGGAATA TACGTATGGAATATATATATATGGAATATACGTATGGAATATATATATAT GGAATATACGTATGGAATATATATATATGGAATATATATGTATGGAATAT ATATATGGAATATATATGTATGGAATATATATATGGAATATATATGTATG GAATATATATATGGAATATATATGTATGGAATATATATATGGAATATATA TGTATGGAATATATATGTATGGAATATATATGTATGGAATATATATATGG AATATATATGTATGGAATATATATATGGAATATATATGTATGGAATATAT ATATGGAATATATATATGGAATATATATGTATGGAATATATATATGGAAT ATATATGTATGGAATATACATATGGAATATATATGTATGGAATATACATA TATGGAATATATATGTATGGAATATACATATATGGAATATATGTATGGAA TATATATATGGAATATATGTATGGAATATATATATATGGAATATATGTAT GGAATATATATATATGGAATATATGTATGGAATATATATATATGGAATAT ATGTATGGAATATATATATGGAATATATGTATATGGAATATATATATGGA ATATATGTATATGGAATATATATATGGAATATATGTATATGGAATATATA TATGGAATATATATATATGGAATATATATATGGAATATATATATATGGAA TATATATATGGAATATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1833		chr21	TogoVar
JAKMIP3_chr10_132060946_132189858	132173155	T T	TCTCCCCC others(854): Show TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTC CTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCCCCTCCCC CCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTC CCCCCTCTCCCCTCCCCCTCCCCCCATCCCCTCCCCCTCTCTCCCCCTCC CCCTCCCCCCTCCCCCTCCCCCCCATCCGCCTCCCCCCTCTCCCCCTCCC CCATCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCC ATCCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCTCCCCTCCCCCCTC CCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTC CCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCC CCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCT CCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCT CCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCT CCCCCTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0142 a0002c0004t0004g0142	1	154	0.0065	861	c.11 others(882): Show c.1103+4125_*1103+4126insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCC TCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCT CCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCT CTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATC CCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATCC GCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCC CTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCCTCTCCCCATCCCCCTCCCCCCTCCCCCTCCCCCTC TCTCCCCCTCCCCTCCCCCCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCT CCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTC CCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCC CCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCC CCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCC CTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCC CTCCTTCCCCCTGTCTCTCTCTCCCCCTCCTTCCCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284518	A A	AAAAATAA others(854): Show AAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAA AGACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGA ATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCA ACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTG GTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAAT TGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTG CACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAA TAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCC CTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACC AGCTTGGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTA GCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAG GCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGAT CGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCT ACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAG GTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGC GAAACTCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG03654.hp1 NA19012.hp1 others(1): Show HG01081.hp2 HG03654.hp1 NA19012.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0001c0001t0002 a0001c0001t0005 a0001c0001t0022	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0022g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0022g0000	4	398	0.0101	861	c.-30 others(872): Show c.-3035_-3034insAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAGTG CAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAACCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCAC CATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGGG ATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTGGA GACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCAG GTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGAGC CACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGGA TTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCAC TGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAAT TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTC CTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTATAG GAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTTT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2897		chr19	TogoVar
JUND_chr19_18274694_18286622	18284518	A A	AAAAATAA others(854): Show AAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATAATAA AGACCTGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGA ATCCAAAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCA ACATGGTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTG GTGGCGAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAAT TGCTTGAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTG CACTGCAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAA TAATAATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCC CTTTGGGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACC AGCTTGGCCAGCATGGTGAAACCCCGTCTCCATTACAAATACAAAAATTA GCCAGGTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAG GCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGAT CGCGCCAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTG GGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCT ACTAAAAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAG GTTGCGGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGC GAAACTCTGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	395	0.0025	861	c.-30 others(872): Show c.-3035_-3034insAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAGTG CAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAACCG ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCCAC CATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCG ATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCTCT GCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTGGG ATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAATGGA GACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTCAG GTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGAGC CACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACGGA TTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTCAC TGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCA AGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGAAT TTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTC CTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTATAG GAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATTAT TATTATTATTATTATTATTATTATTTT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2897		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(854): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGG CCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAG CGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTG AAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAA TGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAG CCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAG CCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATA ATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTG GGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTT GGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAG GTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGA AGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGC CAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAA AAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGC GGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAAC TCTGCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	188	0.0053	861	c.-30 others(872): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(854): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGG CCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAG CGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTG AAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAA TGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAG CCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAG CCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATA ATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGA GGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGC CAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTG TGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGA ATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAG AGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAA TACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGT GAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCT GCCTAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	188	0.0053	861	c.-30 others(872): Show c.-3037_-3036insATTATTTTAGGCAGAGTTTCGCTCGTTGCCCAGG CTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGG TTCAACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCA TGCGCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCA ATGGCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTG CAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAG TAGCTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTT GTAGTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTC GACCTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAG GCGAGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
JUND_chr19_18274694_18286622	18284520	A A	AAATAATA others(854): Show AAATAATAATAATAATAATAATAATAATAATAATAATAATAATAAAGACC TGGCCGTGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCA AAGCGGGTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATG GTGAAACCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGC GAATGCCTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTT GAGCCCGGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTG CAGCCTGGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATA ATAATGATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTG GGAGGCTGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTT GGCCAGCATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAG GTGTGGTGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGA AGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGC CAGAGGTTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAA AAATACAAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGC GGTGAGCCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAAC TCTGCCTAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00597.hp2 others(7): Show HG00280.hp2 HG00544.hp1 HG00597.hp2 HG02300.hp2 NA18954.hp2 NA18962.hp2 NA18973.hp2 NA19005.hp1 NA19055.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0010g0000	10	197	0.0508	861	c.-30 others(872): Show c.-3037_-3036insATTTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTG GAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTC AACCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGC GCCACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATG GCGCGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAA CCTCTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAG CTGGGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTA GTGGAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGAC CTCAGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCG AGAGCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAG ACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGG CTCACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCC TCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTT TGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTG ATCTCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGAT TATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATT ATTATTATTATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2899		chr19	TogoVar
KIF26A_chr14_104133587_104185894	104185779	A A	ATGGGGTG others(854): Show ATGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGG GGTGATTGTAGGGGATGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGT AGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGG GGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTA GAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGGTGG GGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGATGGGGTGGGGTG ATTGTAGGGGGTGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGG GGTGGGGTGGGGTAGAGGGATGGGGTGGGGTGATTGTAGGGGGTGGGGTG GGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGG GGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTG GGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTG TAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTG GGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGT AGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTG GGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGT GATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGG GGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGT GGGGTAGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0168 a0001c0001t0012g0168	1	271	0.0037	861	c.59 others(872): Show c.5989_*5990insTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGT AGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAGGGATG GGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGT GATTGTAGGGGATGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGG GGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGT GGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGATGGGGTGGGGTAGAG GGATGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGATGGGGT GGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGATGGGGTGGGGTGATT GTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGT GGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGG TAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGT GGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGG TGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAG GGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGG TGGGGTAGAGGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGA GGGGTGGGGTGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGG TGGGGTGATTGTAGGGGGTGGGGTGGGGTAGAGGGGTGGGGTGGGGTGAT TGTAGGGGGTGGGGTGGGGTAGAGGGG	KIF26A	ENSG00000066735.16	transcript	ENST00000423312.7	protein_coding		4886		chr14	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(854): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCT CCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCCTCTCCCTCACTCTCCCTCTCCCTCA CTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0009	1	77	0.0130	861	c.-27 others(872): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG AGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2705		chr12	TogoVar
LAMA2_chr6_128878138_129521566	129385145	G G	GGAAAAAG others(854): Show GGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGA GGGAGGAAAAAGGAAGGAAGGGAGGGAGGGAGGAGAGGGAAGGAAGGGAG GGGAGGGAGGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAG GGAGGGGAGGGAGGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGGAAG GAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGGAGGGAGGGAGGAAAAA GGAAGGAAGGGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGAGGGAGGA AAAAGGAAGGAAGGAAGGAGGGTAAGGGAGGGAGGGGGAAGGAAGGGAGG AAAGGAGGAAGAGAAGGATGAAGGGAGGAAGGAAGGAAGGGGAAGGAAGG AGGAAGGGAGGGAGGGAAGGAGGGAAGAAGGGAGGAAGGGAAGGAGGGAA GGTGGAAGGAAGGAAGGAAAAGAAGGAAGGAAGGAGGGAGGGAAGCAGGA AGGAAGGAGGGAGAGGAAGGAACAGAAAGGAAAAAAAGGAGGGGAGGGAG GAAGGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGA GGAAGGAGGAAAAGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGA AAGAAAGGAAGGAAGGAGGGAGGGAGGAAGGAAGGAACGAAGGAAGAAAG AAAGGAGGGAGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAGAAA GGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGGAGGA AGGAAGGAAGAAAGGGCAGAAGGAAGGAAGGGGGAAGGGAGGGAAGAAAG GAAGGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0022 a0022	a0022c0025 a0022c0025	a0022c0025t0001 a0022c0025t0001	a0022c0025t0001g0029 a0022c0025t0001g0029	1	8	0.1250	861	c.507 others(880): Show c.5071+1913_5071+1914insAAAAAGGAAGGAAGGGAGGGAGGGAG GGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGGAGGGAG GGAGGAGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGGAG GGAGGGAGGGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAG GGAGGGAGGGAGGGGAGGGAAGGAAGGGAGGGGAGGGAGGAAAAAGGAAG GAAGGGAGGGAGGGAGGAAAAAGGAAGGAAGGGAGGGAGGGAGGGGAGGG AAGGAAGGGAGGGGAGGGAGGAAAAAGGAAGGAAGGAAGGAGGGTAAGGG AGGGAGGGGGAAGGAAGGGAGGAAAGGAGGAAGAGAAGGATGAAGGGAGG AAGGAAGGAAGGGGAAGGAAGGAGGAAGGGAGGGAGGGAAGGAGGGAAGA AGGGAGGAAGGGAAGGAGGGAAGGTGGAAGGAAGGAAGGAAAAGAAGGAA GGAAGGAGGGAGGGAAGCAGGAAGGAAGGAGGGAGAGGAAGGAACAGAAA GGAAAAAAAGGAGGGGAGGGAGGAAGGAAGGAACAAAGGAAGGAAGAAAG AAAGGAAGGAGGGAGGGAGGGAGGAAGGAGGAAAAGGAGGGAGGGAGGAA GGAAGGAACAAAGGAAGGAAGAAAGAAAGGAAGGAAGGAGGGAGGGAGGA AGGAAGGAACGAAGGAAGAAAGAAAGGAGGGAGGGAGGGAGGAAGGAAGG AACAAAGGAAGGAAGAAAGAAAGGAAGGAGGGAGGGAGGGAGGAAGGAGG AAAAGGAGGGAGGGAGGGAGGAAGGAAGGAAGAAAGGGCAGAAGGAAGGA AGGGGGAAGGGAGGGAAGAAAGGAAGGGAAAGGAG	LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	35/64		INFO_REALIGN_3_PRIME	chr6	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(854): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATATT TATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATA GTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATATTTTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATATTTTTATATATATAGTTATATATATATTTATATA TATAGTTATATATTTATATATATTTATATATATTTATATATATATTTATA TATTTATTTATATATATTTATATATGTATTTATATATATTTATATATATT TATATGTATTTATATATATTTATATATATTTATATATATATATATAAATA TATTTATATATATAAATATAAATATTTATATATATTTATATATATTTATA TATATATTTATGTATATTTATATATATTTATATATATATTTATGTATATT TATATATGTATT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	80	0.0125	861	c.125 others(878): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATTTATATATA TATTTATATATATATTTATATATATTTATATATATTTATATATATATTTA TATATATATTTATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATATTTTTATATATATTTATA TATATTTTTATATATAGTTATATATATTTATATATAGTTATATATATTTA TGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTA TATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTTTTA TATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATA TTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATA TATATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGT TATATATATATTTATATATATAGTTATATATTTATATATATTTATATATA TTTATATATATATTTATATATTTATTTATATATATTTATATATGTATTTA TATATATTTATATATATTTATATGTATTTATATATATTTATATATATTTA TATATATATATATAAATATATTTATATATATAAATATAAATATTTATATA TATTTATATATATTTATATATATATTTATGTATATTTATATATATTTATA TATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATTTAT others(854): Show ATATTTATATATATTTATATATATATTTATATATATATTTATATATATAT TATTTATATATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATATT TATATATATATTTATATATATTTATATATATATTTATATATATATATTTT TATATATATTTATATATATTTTTATATATAGTTATATATATTTATATATA GTTATATATATTTATGTATAGTTATATATATTTATGTATAGTTATATATA GTTATGTATAGTTATATATATAGTTATGTATAGTTATATATATAGTTATA TATATATATTTTTATATATATAGTTATATATATATATTTTTATATATATA GTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTATA TATATAGTTATATATATATTTTTATATATATAGTTATATATATATTTATA TATATAGTTATATATTTATATATATTTATATATATTTATATATATATTTA TATATTTATTTATATATATTTATATATGTATTTATATATATTTATATATA TTTATATGTATTTATATATATTTATATATATTTATATATATATATAAATA TATTTATATATATAAATATAAATATTTATATATATTTATATATATTTATA TATATATTTATGTATATTTATATATATTTATATATATATTTATGTATATT TATATATGTATT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	80	0.0125	861	c.125 others(878): Show c.125+9673_125+9674insTTATATATATTTATATATATATTTATAT ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATATTTATATATATTTATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATATTTTTATATATATTTATATATATTTTTATATATAGT TATATATATTTATATATAGTTATATATATTTATGTATAGTTATATATATT TATGTATAGTTATATATAGTTATGTATAGTTATATATATAGTTATGTATA GTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATA TATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTA TATATATATATTTTTATATATATAGTTATATATATATTTTTATATATATA GTTATATATATATTTATATATATAGTTATATATTTATATATATTTATATA TATTTATATATATATTTATATATTTATTTATATATATTTATATATGTATT TATATATATTTATATATATTTATATGTATTTATATATATTTATATATATT TATATATATATATAAATATATTTATATATATAAATATAAATATTTATATA TATTTATATATATTTATATATATATTTATGTATATTTATATATATTTATA TATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
MGMT_chr10_129462241_129775983	129518568	C C	CCCTCCCC others(854): Show CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCC CCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCCTCCCTGCCCCCTCCCCC TCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCC TCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCC TCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCCCCCTCCCCCCAA TCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCCACTCCTCCCCCT CTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCCTCCCTCCTCCCC CTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCCCCTCCCTTTTCC CCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCCTTCCCCTCCCCCTTCCC CCTCCCCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCCTCCCCTCCCCTCC CCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTTCC CCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCCTTCCCCTTCCCC CTCCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTTCCCCTCCCCCTT ACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACCCTCACCCTCCCC CTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCTCCCCCTTCTCCT CCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCATCCCCCTCCCCCT CCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	3	0.3333	861	c.-12 others(880): Show c.-12-17662_-12-17661insTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCT CCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCTGCCCCCTCCCCTCCCT GCCCCCTCCCCCTCCTCCCCTCCCTCCCCCCTCCCCCTCCTCCCCTCCCT TCCCCCTCCCCCTCCTCCCCTCCCTTCCCCCTCCCCCTCCTCCCCTCCCT CCCCCCTCCCCCTCCTCTTCTTTCACCTCCCCTCCTCTTCCTTCACCTCC CCCTCCCCCCAATCACCTCCCCCTCCCCCCGCTCACCTCCCCCTCCCCCC ACTCCTCCCCCTCTCACTCCTCCCCCTCCCTCCTCCCCCTGCCCTTCCCC TCCCTCCTCCCCCTCCTCCCCCTCTCCCTCTCTCTGTCTTCCCCCCTCCC CCTCCCTTTTCCCCCTCCCCCTCCCCTCCCCCTTCCCCCTCCCCCTTCCC CTCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCTCCCCTCCCCTTCCCCCT CCCCTCCCCTCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCC CCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCTTCCCCCTCCCCCTCCCCC TTCCCCTTCCCCCTCCCCCTTCCCCTCCCCCTTACTCTCCCCTTCCCCTT CCCCTCCCCCTTACTCTCCCCTTCCCCTCCCCTCCCCCCTCTCCCTCACC CTCACCCTCCCCCTTCTCCTCCCCTCCCCCCTCTCCATCCCCCTCCCCCT CCCCCTTCTCCTCCCCTCCTCCTCCTTCCCGTCTCCCTCCCCATCTCCAT CCCCCTCCCCCTCCTCCTCCTCCTCCTCCCCCTCC	MGMT	ENSG00000170430.10	transcript	ENST00000651593.1	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
MUC4_chr3_195741771_195816929	195760569	G G	GGGGGCTG others(854): Show GGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAG GCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCGCT AGGATGGAGTGGAGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAG GGGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCACTA GGATGGAGTGGAGGGGGCTTGGAAGGCGTCCAGCGCTAGGATGGAGTGGA GGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGCTGGGAAGG GGTCCAGCACTAGGATGGAGTGGAGGGGCTGGGAAGGGGTCCAGCACTAG GATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTAGGATGGAGTGGAG GGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGG CGTCCAGCACTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAG GATGGATGGAGGGGGCTGGGAAGGGGTCCAGCACTAGGATGGAGTGGAGG GGGCTGGGAAGGCTTCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGG CGTCCAGCGCTAGGATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAG GATGGATGGAGGGGGCTGGGAAGGCGTCCAGCGCTAGGATGGAGTGGAGG GGGCTGGGAAGGTGTCCAGCACTAGGATGGAGTGGAGGGGGCTGGGAAGG CATCCAGCGCTAGGATGGAGTGGAGGGGGCTGGGAAGGCGTCCAGCACTA GGATGGAGTGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0054 a0054	a0054c0049 a0054c0049	a0054c0049t0001 a0054c0049t0001	a0054c0049t0001g0026 a0054c0049t0001g0026	1	248	0.0040	861	c.148 others(880): Show c.14848+314_14848+315insTCCACTCCATCCTAGTGCTGGACGCC TTCCCAGCCCCCTCCACTCCATCCTAGCGCTGGATGCCTTCCCAGCCCCC TCCACTCCATCCTAGTGCTGGACACCTTCCCAGCCCCCTCCACTCCATCC TAGCGCTGGACGCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGC CTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCC TCCACTCCATCCTAGCGCTGGAAGCCTTCCCAGCCCCCTCCACTCCATCC TAGTGCTGGACCCCTTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACGC CTTCCCAGCCCCCTCCATCCATCCTAGTGCTGGACGCCTTCCCAGCCCCC TCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCT AGTGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTAGTGCTGGACCC CTTCCCAGCCCCTCCACTCCATCCTAGTGCTGGACCCCTTCCCAGCCCCT CCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTA GCGCTGGACGCCTTCCAAGCCCCCTCCACTCCATCCTAGTGCTGGACGCC TTCCCAGCCCCCTCCATCCATCCTAGCGCTGGACCCCTTCCCAGCCCCCT CCATCCATCCTAGCGCTGGACGCCTTCCCAGCCCCCTCCACTCCATCCTA GCGCTGGACGCCTTCCCAGCCCCTCCACTCCATCCTAGCGCTGGACGCCT TCCCAGCCCCCTCCACTCCATCCTAGCGCTGGACGCCTTCCCAGCCCCTC CACTCCATCCTAGTGCTGGACGCCTTCCCAGCCCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	16/24			chr3	TogoVar
NOTCH1_chr9_136489433_136551048	136535835	G G	GGGGGAGC others(854): Show GGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTGGA GGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGGGT GGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0310 a0001c0008t0003g0310	1	303	0.0033	861	c.140 others(878): Show c.140+8188_140+8189insTCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCC ATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCAC TCATTGCCCCGGGAGGGATCCTGAGTGCTCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NUP93_chr16_56725129_56855286	56739517	G G	GGGGGGGC others(854): Show GGGGGGGCTGACTCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACTCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACACCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGTGGCTGG CCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGGACGGGGTGGC TGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGATGGGGCGGC TGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGACAGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGC GCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGGGCTGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0336	1	290	0.0034	861	c.-14 others(878): Show c.-14-8706_-14-8705insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACACCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGAC TCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC ACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGTGGCTGGCCGGGCGGGGGGGGCTGACCCCCCCCCACCTCCCTCCCGG ACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGG ATGGGGCGGCTGGCCGGGCGGGGGGCCGACATCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCCCACCTCCCTCCCGGAC GGGGCGGCTGGCCGGGCGGGGGGCCGATCCCCCCCACCTCCCTCCCGGAC AGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCAGCC GGGCAGAGGCGCCCCTCACCTCCCAGACGGGGTGGCTGGCCGGGCGGAGG GCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGTAGGGGGGCTGAC	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NWD2_chr4_37239743_37454463	37331158	G G	GTACAATA others(854): Show GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTC TGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATA CCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAA TCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCC TACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCTACTTGAGT ATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTA CAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCAC CAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCAT CACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACT TGAGTATTTCTA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0051 a0002c0006t0006g0051	1	292	0.0034	861	c.240 others(878): Show c.240+5174_240+5175insATACAATACCACCAGAATCATCACCCTA CTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTAT TTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACA ATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCA GAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCA CCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTG AGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCT GTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATAC CACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAAT CATCACCCTACTTGAGTATTTCTATACAATACCACCAGAATCATCACCCT ACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTA TTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATAC AATACCACCAGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACC AGAATCATCACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATC ACCCTACTTGAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTT GAGTATTTCTGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTC TGTACAATACCACCAGAATCATCACCCTACTTGAGTATTTCTATACAATA CCACCAGAATCATCACCCTACTTGAGTATTTCT	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
PARP10_chr8_143972158_143991460	143981916	T T	TGGTGGTG others(854): Show TGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGAC GACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGT GGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTG GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGA TGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGAC AGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGAT GGTGGTGATGGTGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGG TGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGATGATGAT GAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGATTGTTGTGATG GTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTGATGGTGATGG TGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGGTGATGGTGAT TGTTGTGATGGTGATGGTGGTGATGACAGTGAGTGGTGAGGGTCATGGTG ATGGTGATGGTGATGATGATGAGTGGGGATGATTATGGTGATGGTGGTGG TGATGGTGACTGTTGTAATGGTGATGGTGGTGATGGTGATGATGGTGGTG ACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGATGACAGTGAGTG GTGAGGGTCATGGTGATGGTGATGATGATGAGTGGGGATGGTGGTGATGG TGACTGTTGTGATGGTGATGGTGGTGATGGTGATGGTGGTGGTGACGACA GTGAGTGGTGAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	109	0.0092	861	c.255 others(880): Show c.2556+1015_2556+1016insTTCACCACTCACTGTCGTCACCACCA CCATCACCATCACCACCATCACCATCACAACAGTCACCATCACCACCATC CCCACTCATCATCATCACCATCACCATGACCCTCACCACTCACTGTCATC ACCACCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCA CCATCACCACCATCACCATTACAACAGTCACCATCACCACCACCATCACC ATAATCATCCCCACTCATCATCATCACCATCACCATCACCATGACCCTCA CCACTCACTGTCATCACCACCATCACCATCACAACAATCACCATCACCAC CACCATCACCATAATCATCCCCACTCATCATCATCACCATCACCATCACC ATGACCCTCACCACTCACTGTCATCACCACCATCACCATCACAACAATCA CCATCACCACCACCATCACCATAATCATCCCCACTCATCATCATCATCAC CATCACCATGACCCTCACCACTCACTGTCATCACCACCACCATCACCATC ACCACCATCACCATCACAACAGTCACCATCACCACCATCATCCCCACTCA TCATCATCACCATCACCATGACCCTCACCACTCACTGTCATCACCACCAT CACCATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACC TTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTC ACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCA CCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCAT CACCACCACCTTCACCACTCACTGTCGTCACCACC	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PIGR_chr1_206923522_206951466	206924611	T T	TGAGTGTG others(854): Show TGAGTGTGTGAGTGTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTC TAGTGTGTGTGTGGTTATGTGTGTGTGATTGTGTGGTGTGTGTCCATGAG TGTGTGTGTGCTCTGTAGAGTGTGTAAGTGTGTGGCGTGTGGCTATGAGT GTGTGTGTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTG TGTGCTCTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGCTC TGTCTAGTGTGTGTGTGGTGTGTGGTTATGTGTGTGTGATTGTGTGTGTG ATGTGTGTCCATGAGTGTGTGTGTGCTCCGTGGAGTGTGTGAATGTGTGG TGTGTGGCTATGAGTGTGTGTGAATGTGTGGTGTGTGGCTATGAGTGTGT GTGAATGTGTGGTGTGTGGCTATGTGTGTGTGCTATGTGTTGTGTGTGGT ATGTAGTTATGAGTGTGTGTCACTGCGTGGTGTGTGGCTATGAGTGTGTG TGTGCGCACTCTATGCTCTGTCTAGTGTGTGTGTGGTTGAGTGTGTGAGT GTGTGGTGTGTAGTTATGAGTGTGTGTGTTCTCTGTCTAGTGTGTGTGGT GTGTGGTTATGTGTGTGTGATTGTGTGTGTGGTGTGTGTCCATGAGTGTG TGTGCTCTGTAGAGTGTGTGAGTGTGTGGCGTGTGGCTATGAGTGTGTGT GTGCACTGTGGAGTGTGTGTGTGGTGTGTGGCTATGAGTGTGTGTGTGCT CTGTGGAGTGTGTGTGTGGTGTGTGGCTACGAGTGTGTGTGTGCTCTGTC TAGTGTGTGTGGTGTGTGGTTATGTGTGTGGTGTGCATCCATGAGTGTGT GTATGCTCTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0012 a0003c0003t0012	a0003c0003t0012g0024 a0003c0003t0012g0024	1	16	0.0625	861	c.57 others(872): Show c.5706_*5707insCACAGAGCATACACACACTCATGGATGCACACCA CACACATAACCACACACCACACACACTAGACAGAGCACACACACACTCGT AGCCACACACCACACACACACTCCACAGAGCACACACACACTCATAGCCA CACACCACACACACACTCCACAGTGCACACACACACTCATAGCCACACGC CACACACTCACACACTCTACAGAGCACACACACTCATGGACACACACCAC ACACACAATCACACACACATAACCACACACCACACACACTAGACAGAGAA CACACACACTCATAACTACACACCACACACTCACACACTCAACCACACAC ACACTAGACAGAGCATAGAGTGCGCACACACACACTCATAGCCACACACC ACGCAGTGACACACACTCATAACTACATACCACACACAACACATAGCACA CACACATAGCCACACACCACACATTCACACACACTCATAGCCACACACCA CACATTCACACACACTCATAGCCACACACCACACATTCACACACTCCACG GAGCACACACACACTCATGGACACACATCACACACACAATCACACACACA TAACCACACACCACACACACACTAGACAGAGCACACACACTCATAGCCAC ACACCACACACACACTCCACAGAGCACACACACACTCATAGCCACACACC ACACACACACTCCACAGTGCACACACACACTCATAGCCACACGCCACACA CTTACACACTCTACAGAGCACACACACACTCATGGACACACACCACACAA TCACACACACATAACCACACACACACTAGACAGAGAACACACACACTCAT AACTACACACCACACACTCACACACTC	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		3910		chr1	TogoVar
PKD1L3_chr16_71924538_72005402	71946837	T T	TGGGGAGA others(854): Show TGGGGAGAGAAGGGGATGGGGAGAGAAGGGGAGGGAGAGAGTGGGAGAGG GGGAGAGAAGGGGAGGGGGAGACAAGGGGGAGAGAAGGGGAGGGGGAGAG GGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGAAGGGGAGGGGGAGAGGG GGAGAGAGGGGGAGGGGGAGAGAGGGGGAGAGAAAGGGAGAGGGGGTGAG AGGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAGAAGGGGAGAG AAGGGGAGAGAAGGGGAGAGAAGGGGAGGGGGAGAGGGGGAGAGGTGGAG GAGGGGGAGAGGGGGAGAGGTGGAGGAGGGGAGGAGGGGGAGGAGGGGGA GGAGGGGAGGAGGGGGAGGAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGG GGGAGGGGGAGAGGGGGAGAGGGGGAGGAGGGGGAGGGGGAGGAGGGGGA GAGGGGGAGGAGGGGGAGAGGGGGAGGAGGGGGAGAGGGGGAAGTGGGAA GGGGCAAGAGAGAGGGCGAGAGAGAGGGCGGGTGAGAGAGGGCGAGTGAG AGAGAGAGGGCGAGTGAGAGAGAGAGGGCAGGTGAGAGAGAGGGCGAGAG AAAGAGAGGGTGGGCAAGAGAGAGAGGGCGAGGGCGAGAGAGAGAGAGGG CGAGAGAGAGAGGGCGGGCGAGAGAGAGGGCAGGCGAGAGAGAGGGCGGG TGAGAGAGAGAGAGGGTGGGCAAGAGAGAGAGAGAGGGCGGGCAAGAGAG AGAGAGAGAGGGCGGGCAAGAGAGAGAGAGAGAGGGCGAGAGGGAGAGAG AGGGAGGAGAGGGCGAGAGGGAGAGAGAGGGAGAGAAAGAGGGAGAGAAA GAGGGAGAGAAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0020 a0007c0008t0001g0020	1	24	0.0417	861	c.371 others(878): Show c.3718+654_3718+655insTTTCTCTCCCTCTTTCTCTCCCTCTTTC TCTCCCTCTCTCTCCCTCTCGCCCTCTCCTCCCTCTCTCTCCCTCTCGCC CTCTCTCTCTCTCTCTTGCCCGCCCTCTCTCTCTCTCTCTTGCCCGCCCT CTCTCTCTCTCTTGCCCACCCTCTCTCTCTCTCACCCGCCCTCTCTCTCG CCTGCCCTCTCTCTCGCCCGCCCTCTCTCTCTCGCCCTCTCTCTCTCTCG CCCTCGCCCTCTCTCTCTTGCCCACCCTCTCTTTCTCTCGCCCTCTCTCT CACCTGCCCTCTCTCTCTCACTCGCCCTCTCTCTCTCACTCGCCCTCTCT CACCCGCCCTCTCTCTCGCCCTCTCTCTTGCCCCTTCCCACTTCCCCCTC TCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCTCTCCCCCTCCTCCCCCT CCCCCTCCTCCCCCTCTCCCCCTCTCCCCCTCCCCCCCTCCTCCCCCTCT CCCCCTCCTCCCCCTCCTCCCCCTCCTCCCCTCCTCCCCCTCCTCCCCCT CCTCCCCTCCTCCACCTCTCCCCCTCTCCCCCTCCTCCACCTCTCCCCCT CTCCCCCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCTTCTCTCC CCTTCTCTCCCCTTCTCTCCCCTTCTCTCCCCCTCTCACCCCCTCTCCCT TTCTCTCCCCCTCTCTCCCCCTCCCCCTCTCTCCCCCTCTCCCCCTCCCC TTCTCTCCCCCTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCCCTCCCCTT CTCTCCCCCTTGTCTCCCCCTCCCCTTCTCTCCCCCTCTCCCACTCTCTC CCTCCCCTTCTCTCCCCATCCCCTTCTCTCCCC	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	22/29			chr16	TogoVar
PLA2G4C_chr19_48042846_48115817	48043533	C C	CCACCACC others(854): Show CCACCACCATCATCATCACCATCATCAACACCATCATCATCACCATCATC ACCACCACCACCACCATAACCACCACCACCACCATCACCACCATCACCAC CATCACCACCACCACCTTCATCATCACCACCATCACCATCACCACCATCA CCACCACCACCACTACCACCACCATCATCACCAGCACCACCATCACCATC ACCACCATCACCACCACCACCACCACCATCACCACCACCACCACCACCAT CACCACCACCACCATCACCATCACCACCACCATCACCACCACCATCAACA CCATTACCACCACCACCACTACCACCACCATCAATACCACCATCACCACC ACCATCATCATCACCATCACCACCATCATCACCACCACCATCACCACCAT CACCATCACCATCACCACCACCATCACCATCACCATCACCACCACCACCA TCACCACCAGCACCACCAGCACCACCACCATCAACATCATCATCATCACC ACCATCACCACCATCATCACCACCACCGTCATCACCACCAGCACCACCAT CACCACCACCATCACCACCATCTCACCATCATCACCATCACCACCATCAT CACCACCACCATCACCACCACCATCACCATCACCATCACCACCATCTCAC CATCACCATCACCACCACCATCACCATCACCATCACCACCATCATCATCA CCACCATCACCACCACCACCACCACCATCATCACCATCACCACCAGCACC ACCACCAACATCATCATCATCACCACCACCACCACCATCACCACCACCAC CACCATCAACACCACCATCACCACCACCATCATCATCACCACCACCACCA TCACCACCATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0272 a0005c0006t0009g0272	1	140	0.0071	861	c.48 others(872): Show c.4809_*4810insAGATGGTGGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGGTGATGGTGGTGTTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGATGATGATGTTGGTGGTGGTGCTGGTGGTGATGGTGATG ATGGTGGTGGTGGTGGTGGTGATGGTGGTGATGATGATGGTGGTGATGGT GATGGTGATGGTGGTGGTGATGGTGATGGTGAGATGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGGTGGTGATGATGGTGGTGATGGTGATGA TGGTGAGATGGTGGTGATGGTGGTGGTGATGGTGGTGCTGGTGGTGATGA CGGTGGTGGTGATGATGGTGGTGATGGTGGTGATGATGATGATGTTGATG GTGGTGGTGCTGGTGGTGCTGGTGGTGATGGTGGTGGTGGTGATGGTGAT GGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGATGGTGGTGGTGA TGATGGTGGTGATGGTGATGATGATGGTGGTGGTGATGGTGGTATTGATG GTGGTGGTAGTGGTGGTGGTGGTAATGGTGTTGATGGTGGTGGTGATGGT GGTGGTGATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGTGGTGCTGGTG ATGATGGTGGTGGTAGTGGTGGTGGTGGTGATGGTGGTGATGGTGATGGT GGTGATGATGAAGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGG TGGTGGTGGTTATGGTGGTGGTGGTGGTGATGATGGTGATGATGATGGTG TTGATGATGGTGATGATGATGGTGGTG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding		4312		chr19	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(854): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01243.hp1 others(19): Show HG00140.hp1 HG00609.hp1 HG01243.hp1 HG02055.hp2 HG02056.hp1 HG02145.hp2 HG02622.hp2 HG02683.hp2 HG02698.hp2 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp1 HG03209.hp2 HG03579.hp1 HG04184.hp1 NA18906.hp2 NA18967.hp1 NA18974.hp2 NA18975.hp2 NA19000.hp2 NA19054.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0028 a0001c0001t0043 a0001c0002t0002 a0001c0002t0008 a0001c0002t0051 a0002c0004t0015	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0142 others(17): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0002g0142 a0001c0001t0004g0002 a0001c0001t0004g0005 a0001c0001t0004g0015 a0001c0001t0004g0144 a0001c0001t0005g0133 a0001c0001t0008g0140 a0001c0001t0009g0138 a0001c0001t0010g0034 a0001c0001t0016g0130 a0001c0001t0028g0129 a0001c0001t0043g0131 a0001c0002t0002g0030 a0001c0002t0002g0035 a0001c0002t0002g0123 a0001c0002t0008g0136 a0001c0002t0051g0325 a0002c0004t0015g0141	22	220	0.1000	861	c.-26 others(880): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTGTAAAGG ACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTT AAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGA GTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCA CAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTT ATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAAC TCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATT ACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTT TTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTT TCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGA TTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAA AGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCA CATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGAT CCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCC ATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(854): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTAAAAAAAAAAAAAAAAAAAAAAAAGAATGG ACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGTG GCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCCT GACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCTG GGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAG GAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGCA CCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAAA AAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCAA TAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	199	0.0050	861	c.-26 others(880): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTTGTAAAG GACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATT TAAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGG AGTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTC ACAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTT TATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAA CTCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGAT TACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTT TTTTTTTTTTTTTTTTAAATTTATTTTTTTATTGATAATTCTTGGGTGTT TCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGA TTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAA AGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCA CATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGAT CCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCC ATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RGS17_chr6_152999459_153136282	153108701	T T	TAGAAAAT others(854): Show TAGAAAATTCCCCTACATTCCGAAAGAAGTAGACATGGGAGACTTTTCAT TTTGTTCTGCACTAAGAAAAATTCCTCTGCCTTGGGATCCTGTTGATCTG TGACCTTACCCCCAACCCTGTGCTCTCTGAAACATGTGCTGTGTCCACTC AGGGTTAAATGGATTAAGGGCGGTGCAAGATGTGCTTTGTTAAACAGATG CTTGAAGGCAGCATGCTCGTTAAGAGTCATCACCAATCCCTAATCTCAAG TAATCAGGGACACAAACACTGCGGAAGGCCGCGGGGTCCTCTGCCTAGGA AAACCAGAGACCTTTGTTCACTTGTTTATCTGCTGACCTTCCCTCCACTA TTGTCCCATGACCCTGCCAAATCCCCCTCTGTGAGAAACACCCAAGAATT ATCAATAAAAAAATAAATTTTAAAAAAAAAAAAAAAAAAAAAAAAGAATG GACTTTCCCAGGCCAGCTGTGGTGGCTCACGACTGTAATCCCAGCACTGT GGCAGGCCAAGGTGGGCAGATCACCTGAGATCAGGAGTTCAAGACCAGCC TGACCAACACGGAGAAACCCCGTCTCTACTAAAAATAAAAAAAATTAGCT GGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTTGTGAGCTGAGATTGC ACCATTGCACTCCAGCCTGGGCAACAAGAGGGAAACTCCATCAAAAAAAA AAAAAAAAAAAGGACTTTCTCAAAGAAAATGTATTTAAATGTCTGCACCA ATAATTCCAGCATGTGTATGAATAAATATGATATGTCCTTTACAAAAAAA AAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG06807.hp2 HG02055.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0127 a0001c0002t0004g0128 a0001c0002t0004g0127 a0001c0002t0004g0128	2	200	0.0100	861	c.-26 others(880): Show c.-26+22422_-26+22423insTTTTTTTTTTTTTTTTTTTGTAAAGG ACATATCATATTTATTCATACACATGCTGGAATTATTGGTGCAGACATTT AAATACATTTTCTTTGAGAAAGTCCTTTTTTTTTTTTTTTTTTTGATGGA GTTTCCCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGCTCA CAACAACCTCTGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGATTACAGGCATGCACCACCACGCCCAGCTAATTTTTTTT ATTTTTAGTAGAGACGGGGTTTCTCCGTGTTGGTCAGGCTGGTCTTGAAC TCCTGATCTCAGGTGATCTGCCCACCTTGGCCTGCCACAGTGCTGGGATT ACAGTCGTGAGCCACCACAGCTGGCCTGGGAAAGTCCATTCTTTTTTTTT TTTTTTTTTTTTTTTAAAATTTATTTTTTTATTGATAATTCTTGGGTGTT TCTCACAGAGGGGGATTTGGCAGGGTCATGGGACAATAGTGGAGGGAAGG TCAGCAGATAAACAAGTGAACAAAGGTCTCTGGTTTTCCTAGGCAGAGGA CCCCGCGGCCTTCCGCAGTGTTTGTGTCCCTGATTACTTGAGATTAGGGA TTGGTGATGACTCTTAACGAGCATGCTGCCTTCAAGCATCTGTTTAACAA AGCACATCTTGCACCGCCCTTAATCCATTTAACCCTGAGTGGACACAGCA CATGTTTCAGAGAGCACAGGGTTGGGGGTAAGGTCACAGATCAACAGGAT CCCAAGGCAGAGGAATTTTTCTTAGTGCAGAACAAAATGAAAAGTCTCCC ATGTCTACTTCTTTCGGAATGTAGGGGAATTTTCT	RGS17	ENSG00000091844.8	transcript	ENST00000206262.2	protein_coding	1/4			chr6	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(854): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	27	0.0370	861	c.-75 others(880): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAACTAAATATATAAATATATATTTATCTATAAAC TAAATATATAAATATATATTTATCTATAAACTAAATATATAAATATATAT TTATCTATAAATTAAATATATAAATATATATTTATCTATAAATTAAATAT ATAAATATATATTTATCTATAAATTAAATATATAAATATATATTTATCTA TAAATTAAATATATAAATATATATTTATCTATAAACTAAATATATAAATA TATATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATA AATATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATA TGTAAATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATA TGTAAATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATA TATAAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTA AATATATAAATATATATTTATAAACTAAATATATAAATATATATTTATAA ACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTT ATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATAT GTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAAT ATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATAT AAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RUFY4_chr2_218064253_218095584	218082955	C C	CTGTGTGT others(854): Show CTGTGTGTTGTGTATATGTTGTGTTGCGTTTTGTGTTGTATTGCATGTGT GTTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGTGCATGTTATGCATG TGCATTGTGTTGTATGATTGTGATTGTGTGTGGTGTGTACGATGTGTTGT TATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTGTCTCTGTGTATGTT GTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTGCACATATGTTGTGT TTTTGTGCTGTGTTATGTGTATGGGTTACATGTGTGTTGTGTATATATTG AGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATGTGTTGCGTTGTCTA TATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTGCGTTATAATATGTA GGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGTTATAATACGTAGGG GTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATGTTGTATGTGTTGTG TATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTTATGTGTTGTATTGTG TGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTTGTGTGTATGTGTTG TGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACATTTGTGTTGTGTTG TGTATATGTTGAGTTGTGTATGTGTTATATTGTGTGTGGTGTATGTGTTG TGTTGTGTGTATGTGTTGTGTGTAGTATTGTGTGTGTTACAATGTGTGGG GAGTTGTGTGTGTTGTGTGTATTGTATATATATGTTCTGTTGGGTGTTAT GTCTGTTGTGTTATATTGTATTATGTGTATGCATTTTGTGTGTGGTGTGG TGTGTGTTGTAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	173	0.0058	861	c.135 others(878): Show c.1356-148_1356-147insTGTGTATATGTTGTGTTGCGTTTTGTGT TGTATTGCATGTGTGTTGTGTTGTGTATGTGTTGTGTGTGTATTGTGAGT GCATGTTATGCATGTGCATTGTGTTGTATGATTGTGATTGTGTGTGGTGT GTACGATGTGTTGTTATGTGTGCGTTATGAATGTAGGTAGTGTTGCGCTG TCTCTGTGTATGTTGTGTTGTATGTGTTGTACTGTGTGTTTTGTGTTGTG CACATATGTTGTGTTTTTGTGCTGTGTTATGTGTATGGGTTACATGTGTG TTGTGTATATATTGAGTTGTGTGTATGTGTTATGCTGTGTGTTGTGTATG TGTTGCGTTGTCTATATGTGTTGTGTGTGTGCCGTGTGTTGTATTGTGTG CGTTATAATATGTAGGGGGTGTTGTGTGCTGTGTGTTCTATTGTGTGTGT TATAATACGTAGGGGTTTTTGTGTTGTGTGTATTGTCTTGTGTGTATATG TTGTATGTGTTGTGTATATGTGTTCTGCTGGGTGTTGTATCTGTTGTTTA TGTGTTGTATTGTGTGAGTGCATTGTGTGTGTTGTATTGTGTTTTGTGTT GTGTGTATGTGTTGTGTTTTGTGTGAATGTTGTTATGTGTATGGGTTACA TTTGTGTTGTGTTGTGTATATGTTGAGTTGTGTATGTGTTATATTGTGTG TGGTGTATGTGTTGTGTTGTGTGTATGTGTTGTGTGTAGTATTGTGTGTG TTACAATGTGTGGGGAGTTGTGTGTGTTGTGTGTATTGTATATATATGTT CTGTTGGGTGTTATGTCTGTTGTGTTATATTGTATTATGTGTATGCATTT TGTGTGTGGTGTGGTGTGTGTTGTAGTGTGTGT	RUFY4	ENSG00000188282.13	transcript	ENST00000697321.1	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SENP7_chr3_101319205_101518212	101440014	G G	GCCCCTAC others(854): Show GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGG AGGGAGGTGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCT GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGG GTCGGCCCCCCTGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCAGCCA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA19057.hp2 NA19074.hp1 NA18942.hp2 NA19057.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0236 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0236	3	209	0.0144	861	c.284 others(880): Show c.284+18940_284+18941insTGGCTGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCAGGCAGGGGGGCCGACCCCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTG GGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGGCCGACCCCCCCCACCTCCCTCCCAGACGGGGCGG CTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(854): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCATCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCACTACCACCAGCACCATCACCACCATCAT CACCTGTATCTCCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCAGCTCTTCCTCCACCACCACTACCAGCAGCACCATTACC ACCATCACTACCCCTACCTCTGCCACCATCATCACCATCATCACCACCAC CACCTCCACCACCCCCATCACCACCACCACCACCACCATCAGTACCACCA TCCCCACCACAGCCATCACCACTTCTACCTGCACCACCACCACCATCACC ACCTCCACCACAGTCAACACCACTGTTATTAATACCACCACCACCATCAC CACTACCACCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(28): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00438.hp2 HG01081.hp1 HG01081.hp2 HG01256.hp1 HG01496.hp2 HG02074.hp1 HG02683.hp1 HG03239.hp1 HG03710.hp1 HG04199.hp1 NA18942.hp2 NA18948.hp1 NA18954.hp2 NA18960.hp2 NA18972.hp2 NA18975.hp1 NA18979.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19056.hp1 NA19060.hp2 NA19065.hp1 NA19081.hp2 NA19085.hp2 NA20905.hp2	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0019 a0036 a0042	a0001c0003 a0002c0001 a0004c0005 others(4): Show a0001c0003 a0002c0001 a0004c0005 a0004c0012 a0019c0046 a0036c0025 a0042c0031	a0001c0003t0001 a0002c0001t0001 a0004c0005t0001 others(4): Show a0001c0003t0001 a0002c0001t0001 a0004c0005t0001 a0004c0012t0001 a0019c0046t0001 a0036c0025t0001 a0042c0031t0001	a0001c0003t0001g0003 a0001c0003t0001g0024 a0001c0003t0001g0026 others(28): Show a0001c0003t0001g0003 a0001c0003t0001g0024 a0001c0003t0001g0026 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0030 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0034 a0001c0003t0001g0036 a0001c0003t0001g0038 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0076 a0001c0003t0001g0077 a0001c0003t0001g0080 a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0177 a0001c0003t0001g0242 a0002c0001t0001g0250 a0004c0005t0001g0213 a0004c0005t0001g0218 a0004c0012t0001g0234 a0019c0046t0001g0249 a0036c0025t0001g0033 a0042c0031t0001g0083	31	124	0.2500	861	c.266 others(878): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTATCTCCA CTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCACCACTACCACCAGCACCATCACCACCTC TACCTCCATCACCGTCACCACCTCTACCTCCATCACCATCACCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCACCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCACTACCACCAGCACCATCA CCACCATCATCACCTGTATCTCCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCAGCTCTTCCTCCACCACCACTACCAGCAG CACCATTACCACCATCACTACCCCTACCTCTGCCACCATCATCACCATCA TCACCACCACCACCTCCACCACCCCCATCACCACCACCACCACCACCATC AGTACCACCATCCCCACCACAGCCATCACCACTTCTACCTGCACCACCAC CACCATCACCACCTCCACCACAGTCAACACCACTGTTATTAATACCACCA CCACCATCACCACTACCACCATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEF2_chr5_35612863_35819611	35708695	C C	CCATCACC others(854): Show CCATCACCACCATCATCACCTCTATCTCCACTACCACTACCAACACCACC ATCACTACCACCATCCCCACCATCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCACCACTACCACCAGCACCATCACCACCTCTACCTCCATC ACCGTCACCACCTCTACCTCCATCACCATCACCACCATCATCACCTCTAT CTCCACTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAG CCATCACCACCTCCGCCACCATCACCACCACTACCACCAGCACCATCACC ACCTCTACCTCCATCATCATCACCACCTCTATCTCCATCACCATCACAAC CTCTACCTCCACCAGCATCACCACCATCATCACCTCTATCTCCACTACCA CCATCACTACCACCATCCCCACCATAGCCATCACCACCTCCACTACCATC ACCACCTCTACCTCCACCACCACTACCACCAGCACCATCACCACCATCAT CACCTGTATCTCCACTACCACCATCCCCACCACAGCCATCACCACCTCCA CCACCATCACCAGCTCTTCCTCCACCACCACTACCAGCAGCACCATTACC ACCATCACTACCCCTACCTCTGCCACCATCATCACCATCATCACCACCAC CACCTCCACCACCCCCATCACCACCACCACCACCACCATCAGTACCACCA TCCCCACCACAGCCATCACCACTTCTACCTGCACCACCACCACCATCACC ACCTCCACCACAGTCAACACCACTGTTATTAATACCACCACCACCATCAC CACTACCACCAT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	94	0.0106	861	c.266 others(878): Show c.2666-242_2666-241insTCATCACCTCTATCTCCACTACCACTAC CAACACCACCATCACTACCACCATCCCCACCATCATCACCTCTATCTCCA CTACCACTACCAACACCACCATCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCACCACTACCACCAGCACCATCACCACCTC TACCTCCATCACCGTCACCACCTCTACCTCCATCACCATCACCACCATCA TCACCTCTATCTCCACTACCACTACCAACACCACCATCACTACCACCATC CCCACCACAGCCATCACCACCTCCGCCACCATCACCACCACTACCACCAG CACCATCACCACCTCTACCTCCATCATCATCACCACCTCTATCTCCATCA CCATCACAACCTCTACCTCCACCAGCATCACCACCATCATCACCTCTATC TCCACTACCACCATCACTACCACCATCCCCACCATAGCCATCACCACCTC CACTACCATCACCACCTCTACCTCCACCACCACTACCACCAGCACCATCA CCACCATCATCACCTGTATCTCCACTACCACCATCCCCACCACAGCCATC ACCACCTCCACCACCATCACCAGCTCTTCCTCCACCACCACTACCAGCAG CACCATTACCACCATCACTACCCCTACCTCTGCCACCATCATCACCATCA TCACCACCACCACCTCCACCACCCCCATCACCACCACCACCACCACCATC AGTACCACCATCCCCACCACAGCCATCACCACTTCTACCTGCACCACCAC CACCATCACCACCTCCACCACAGTCAACACCACTGTTATTAATACCACCA CCACCATCACCACTACCACCATCATCACCACCA	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	18/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(854): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGG AGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAG GAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGGA GGAAAGGAGGGAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGA GGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAA AGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAG GAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGG GGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02735.hp2 HG02647.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0121 a0001c0001t0025g0212 a0001c0001t0001g0121 a0001c0001t0025g0212	2	4	0.5000	861	c.597 others(878): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTT CCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCC TCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTC CTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTC CCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCC TCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCT TTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCT CCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(854): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAG GGAGGGAGGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGAAAAGGAGGG AGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAG GGAGGAAAGGAAGGAGGGAGGAAAGGAAAGAGGGAGGGAGGGAGGAAAGG AAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAGGAGG GAGGGAGGGAGAAAAGGAGGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAG GAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA AGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAG GAGGGAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGA GGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGA GGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20752.hp2 HG00099.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0068 a0001c0001t0002g0054 a0001c0001t0002g0068	2	4	0.5000	861	c.597 others(878): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC TCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTC CTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCT TTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTC CCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCC TCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCTTC CTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCC TCCCTCCCTCCCTCCCTCCTTTTCTCCCTCCCTCCCTCCTTTCCTCCCTC CCTCCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCTTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTC CTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCCTCCTTTTCTCCCT CCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCCTCCTTTCCTCCCTCC TCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTC CTTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCT TTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCTCCCTCCTTT CCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
THBS2_chr6_169210785_169258846	169242825	T T	TTCCCACC others(854): Show TTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCAC TCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTT CCCATCTTCCCATCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTC CCACTGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCC CACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCTTCCCACCTTCCC ACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTCCCA CCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCCCAC CTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCCACC TTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCT TCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCT CCCACCTTCCCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCC CACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACCACTCCTACCTTCC TACCTTCCCACCGCTCCCACATTCTCACCTTCCCACCTTTCCACCTTCCC ACCACTCCTACCTTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCAC CGCTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCATCACTCCCA CCTTCCCACCGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0046 a0003c0046	a0003c0046t0021 a0003c0046t0021	a0003c0046t0021g0315 a0003c0046t0021g0315	1	358	0.0028	861	c.695 others(876): Show c.695-868_695-867insGCGGTGGGAAGGTGGGAGTGATGGGAAGGT GGGAGCGGTGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGT GGGAGCGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTG GGAATGTGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGGAAAGGTGG GAAGGTGAGAATGTGGGAGCGGTGGGAAGGTAGGAAGGTAGGAGTGGTGG GAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGA AGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAGC GGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGG TGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGG TGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTG GGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATG GGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGG GAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAAGATGGG AAGATGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAAGATGGGAAGATGGGAAGGTGGGAAGGTGGGAG CGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA TGTGGGAAGGTGGGAATGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(854): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0356 a0003c0003t0001g0356	1	188	0.0053	861	c.227 others(880): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115702	G G	GGCGAAGG others(854): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0244 a0001c0005t0003g0244	1	416	0.0024	861	c.227 others(880): Show c.2277+1566_2277+1567insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115747	G G	GAAGGGAG others(854): Show GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGA GTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGA AGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCA	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0187 a0001c0005t0005g0187	1	442	0.0023	861	c.227 others(880): Show c.2277+1521_2277+1522insTGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(854): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0235 a0004c0006t0003g0235	1	408	0.0025	861	c.227 others(880): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(854): Show TATAATAATATAATATATATTATTATATGTTATTATATATAATAATATAA TATATATTATTATATGTTATTATATATAATAATATAATATATATTATTAT ATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATATA TAATAATATATATTATTATATGTTATTATATATAATAATATATATTATTA TATGTTATTATATATAATAATATAATATATATTATTATATGTTATTATAT ATAATAACATATTATATATTATGTTATTATATATAATAACATAATATATA TTATATGTTATTATATATAATAACATAATATATATTATATGTTATTATAT ATAATAACATAATATATATTATTATATGTTATTATATATAATAACATAAT ATATATTATTATATGTTATTATATATAATAACATAATATATATTATTATA TGTTATTATATATAATAACATAATATATATTATTATATGTTATTATATAT AATAACATAATATATATTATTATATGTTATTATATATAATAATATAATAT ATATTATTATATGTTATTATATATAATAATATATATTATATTATTATATG TTATTATATATAATAATATAATATATATTATTATATGTTATTATATATAA TATATATTATATTATATATAATAATATAATATATATTATATTATTATATA TAATAATATAATATATATTATTATATATTATATATTATTATATATAATAT ATATATAATTATATTATTATATATTATTATATATAATATATATAATTATA TATATATTATATATATTATATATAATAATAATATATATAATTATATATAT TATATATAATAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0221 a0002c0003t0002g0221	1	99	0.0101	861	c.392 others(878): Show c.392+6154_392+6155insTTATTATATATAATATATATAATTATAT ATATTATTATTATATATAATATATATAATATATATATAATTATATATATT ATATATAATAATATATAATAATATAATTATATATATATTATATATAATAA TATATAATATATAATAATATATATTATATTATTATATATAATAATATAAT ATATATTATATTATTATATATAATATAATATATATTATATATAATAACAT ATAATAATATATATTATATTATTATATATAATAACATATAATAATATAAT ATATATTATTATATATAATAACATATAATAATATATATTATATTATTATA TATAATAACATATAATAATATATATTATGTTATTATATATAATAACATAT AATAATATATATTATGTTATTATATATAATAACATATAATAATATATATT ATGTTATTATATATAATAACATATAATAATATATATTATGTTATTATATA TAATAACATATAATAATATATATTATGTTATTATATATAATAACATATAA TATATATTATGTTATTATATATAATAACATATAATATATATTATGTTATT ATATATAATAACATAATATATAATATGTTATTATATATAATAACATATAA TAATATATATTATATTATTATATATAATAACATATAATAATATATATTAT TATATATAATAACATATAATAATATATATTATTATATATAATAACATATA ATAATATATATTATATTATTATATATAATAACATATAATAATATATATTA TATTATTATATATAATAACATATAATAATATATATTATATTATTATATAT AATAACATATAATAATATATATTATATTATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UMAD1_chr7_7635752_7884223	7679098	C C	CATATATT others(854): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATAT TTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATAT ATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAA ATATATATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATATTTACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAA ATACATATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTT ATAAATACATATTTATATATTTAGTTTATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAAT ATATATTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGT TTATAGATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0135 a0001c0001t0046g0135	1	24	0.0417	861	c.82+ others(876): Show c.82+5669_82+5670insAACATATATTTATATATTTAGTTTATAAAC ATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTAT AAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGT TTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATT TAGTTTATAAACATATATTTATATATTTAGTTTATAAATATATATTTATA TATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATATATT TATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATA TATTTATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATATT TACATATTTAGTTTATAAATACATATTTACATATTTAGTTTATAAATACA TATTTACATATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAA TACATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTA TAGATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTAT ATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAA ATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTTA GTTTATAGATAAATATATATTTATATATTTAGTTTATAGATAAATATATA TTTATATATTTAGTTTATAGATAAATATATATTTATATATTTAGTTTATA GATAAATATATATTTATATATTTAGTTTATA	UMAD1	ENSG00000219545.12	transcript	ENST00000682710.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ZDHHC11B_chr5_705355_789729	783822	C C	CAGCAGCC others(854): Show CAGCAGCCCCCAAATACCCATCAAAACAGCCCCCAACCCTCATCAAAACA GCAGCCCTCAACCCCCATCAAAACAGCAGCCCTCAACCCCCATCAAAACA GCAGCCCCCTAAACCCCCATCAAAACAGCAGCCCCCCAAACCCCCATCAA GACAACAGCCCCCCCAACCCGTATCAAAACAGCAGCCCCCAACCCCTCAT CAAAACAGCAGCCCCCAGACCCCATCAAAACAGCAGCCCTCAACCCCCAT CAAAACAGCAGCCCTCAACCCCCATCAAAACAGCAGCCCCCTAAACCCCC ATCAAAACAGCAGCCCCCCAAACCCCCATCAAGACAACAGCCCCCCCAAC CCGTATCAAAACAGCAGCCCCCAACCCCTCATCAAAACAGCAGCCCCCAG ACCCCATCAAAACAGCAGCCCCCCAACCCCTATCAAAACAGCAGCCTCCC AACCCCTATCAAAACAGCAGCCCCCAACCCCCTATCAAAACAGCAGCCCC CCTAAGCCCCCATCAAGACAGCAGCCTCCCAACCCCACATCAAAACAGCA GCCCCCCAGACCCCATCAAAACAGCAGCCCCCAACCACCTATCAAAACAG CAGCCCCCCAACCCCTATCAAAACAGCAGCCCCCCAACCCCCTATCAAAA CAGTAGCCTCCCAACCACCTATCAAAACAGCAGCCTCCCAACCCCCTATC AAAACAGCAGCCCCCAAACCCCTATCAAAACTGCAGCTCCCAACCCCCTA TCAAAACAGCAGTCCCCCAACCCTATCAAAACAGCAGCCCTCCAACCCCC TATCAAAACAGCAGCCCCCCAAACCCCTATCAAAACAGCAGCCCCCAACC CCGTATCAAAAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01123.hp1 HG01975.hp2 others(4): Show HG00544.hp1 HG01123.hp1 HG01975.hp2 HG03239.hp1 NA18944.hp2 NA18955.hp2 NA19003.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0015 others(2): Show a0001c0001 a0001c0002 a0001c0015 a0003c0007 a0007c0019	a0001c0001t0012 a0001c0002t0036 a0001c0015t0002 others(2): Show a0001c0001t0012 a0001c0002t0036 a0001c0015t0002 a0003c0007t0037 a0007c0019t0027	a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0002t0036g0012 others(4): Show a0001c0001t0012g0028 a0001c0001t0012g0029 a0001c0002t0036g0012 a0001c0015t0002g0034 a0003c0007t0037g0035 a0007c0019t0027g0030 a0007c0019t0027g0031	7	236	0.0297	861	c.-23 others(878): Show c.-230+845_-230+846insATTTTGATACGGGGTTGGGGGCTGCTGT TTTGATAGGGGTTTGGGGGGCTGCTGTTTTGATAGGGGGTTGGAGGGCTG CTGTTTTGATAGGGTTGGGGGACTGCTGTTTTGATAGGGGGTTGGGAGCT GCAGTTTTGATAGGGGTTTGGGGGCTGCTGTTTTGATAGGGGGTTGGGAG GCTGCTGTTTTGATAGGTGGTTGGGAGGCTACTGTTTTGATAGGGGGTTG GGGGGCTGCTGTTTTGATAGGGGTTGGGGGGCTGCTGTTTTGATAGGTGG TTGGGGGCTGCTGTTTTGATGGGGTCTGGGGGGCTGCTGTTTTGATGTGG GGTTGGGAGGCTGCTGTCTTGATGGGGGCTTAGGGGGGCTGCTGTTTTGA TAGGGGGTTGGGGGCTGCTGTTTTGATAGGGGTTGGGAGGCTGCTGTTTT GATAGGGGTTGGGGGGCTGCTGTTTTGATGGGGTCTGGGGGCTGCTGTTT TGATGAGGGGTTGGGGGCTGCTGTTTTGATACGGGTTGGGGGGGCTGTTG TCTTGATGGGGGTTTGGGGGGCTGCTGTTTTGATGGGGGTTTAGGGGGCT GCTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGGGGGTTGAGGGCT GCTGTTTTGATGGGGTCTGGGGGCTGCTGTTTTGATGAGGGGTTGGGGGC TGCTGTTTTGATACGGGTTGGGGGGGCTGTTGTCTTGATGGGGGTTTGGG GGGCTGCTGTTTTGATGGGGGTTTAGGGGGCTGCTGTTTTGATGGGGGTT GAGGGCTGCTGTTTTGATGGGGGTTGAGGGCTGCTGTTTTGATGAGGGTT GGGGGCTGTTTTGATGGGTATTTGGGGGCTGCT	ZDHHC11B	ENSG00000206077.14	transcript	ENST00000508859.8	protein_coding	1/13			chr5	TogoVar
ZNF516_chr18_76352682_76500242	76401782	A A	ACCACACC others(854): Show ACCACACCCCCGCGCCGCACCTCTCCACCACCAACCACACCCCCGCGCCG CACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAA CCACACCCCCGCGCCGCACCCCTCCACCACCCACACCCCCGCGCCGCACC CCTCCACCACCAACCACAGCCCCGCGCCGCACCCCTCCACCACCAACCAC ACCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCTCTC CACCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCC CCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCC ACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGC GCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCA ACCACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCG CACCCCTCCACCACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCA CAGCCCCGCGCTCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCT CCACCACCAACCACAGCCCCGCGCTCCATCTCTCCACCAACCACACCCCC GCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCACCCCTCCAC CACCCACACCCCCGCGCCGCACCCCTCCACCACCAACCACAGCCCCGCGC TCCATCTCTCCACCAACCACACCCCCGCGCCGCACCCCTCCACCACCAAC CACACCCCCGCGCCGCACCCCTCCACCACCAACCACACCCCCGCGCCGCA CCCCTCCACCAC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0012 a0012	a0012c0047 a0012c0047	a0012c0047t0026 a0012c0047t0026	a0012c0047t0026g0346 a0012c0047t0026g0346	1	341	0.0029	861	c.181 others(882): Show c.1811-21480_1811-21479insGTGGTGGAGGGGTGCGGCGCGGGG GTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGA GGGGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGCTGT GGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGC GGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTT GGTGGAGAGATGGAGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCG CGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGCTGTGGTTGGTGGTG GAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGG GGTGCGGCGCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGCTGTGG TTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGGTGGTGGAGGGGTGCGG CGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGG TGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGAGGTGCGGC GCGGGGGTGTGGTTGGTGGAGAGATGGAGCGCGGGGGTGTGGTTGGTGGT GGAGGGGTGCGGCGCGGGGCTGTGGTTGGTGGTGGAGGGGTGCGGCGCGG GGGTGTGGGTGGTGGAGGGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAG GGGTGCGGCGCGGGGGTGTGGTTGGTGGTGGAGGGGTGCGGCGCGGGGGT GTGGTTGGTGGTGGAGAGGTGCGGCGCGGGGGTGTGG	ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6			chr18	TogoVar
ABR_chr17_998519_1184981	1173193	T T	TCCACCCA others(855): Show TCCACCCAACACATCACCTCAGTCCACCCCCCCCATCACCTCAGCCCACC CAACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCCC ATCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCA CCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCAACACATCACCTC AGTCCACCCAACACATCACCTCAGTCCACCCCCCCATCACCTCAGCCCAC CCAACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCACCCCC CACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCAACACA TCACCTCAGCCCACCCAACACATCACCTCAGTCCACCCAACACATCACCT CAGTCCACCCCCCCCATCACCTCAGCCCACCCAACACATCACCTCAGTCC ACCCCCCACACATCACCTCAGTCCACCCCCCACACATCACCTCAGTCCAC CCAACACATCACCTCAGTCAACGCAACACATCACCTCAGTCCACTCAACA CATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCCAACACATCAC CTCAGCCCACCCAACACATCACCTCAGTCCACCCCCCACACATCACCTCA GTCCACCCCCCACACATCACCTCAGTCCACCCCCCACACGTCACCTCAGT CCACCCCCCCGACATCACCTCAGCCCACCCCCCCCACACATCACCTCAGC CCACCCAACACATCACCTCAGCCCACCCAACACATCACCTCAGCCCACCC AACACATCACCTCAGTCCACCCAACACATCACCTCAGTCCACCCCCCGCC CCATCACCTCAGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02717.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0123 a0001c0001t0006g0117 a0001c0001t0001g0123 a0001c0001t0006g0117	2	309	0.0065	862	c.61+ others(877): Show c.61+6473_61+6474insGCTGAGGTGATGGGGCGGGGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGAT GTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTGG GGGGGGTGGGCTGAGGTGATGTCGGGGGGGTGGACTGAGGTGACGTGTGG GGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGG GGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGG CTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGAGTGGACTGAGG TGATGTGTTGCGTTGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGT GTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGT TGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAGGTGATGTGTTGGGTG GACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGTGTTGGGTGGACTGA GGTGATGTGTTGGGTGGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTG ATGTGTGGGGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGG GGGGGTGGACTGAGGTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGT GGACTGAGGTGATGTGTGGGGGGTGGACTGAGGTGATGTGTGGGGGGTGG ACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATGGGGGGGGTGGACTGAG GTGATGTGTTGGGTGGACTGAGGTGATGTGTTGGGTGGGCTGAGGTGATG GGGGGGGTGGACTGAGGTGATGTGTTGGGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(855): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTCTATATATTTTATATATAGTATGTACTATATATTTTATATA TAGTATGTACTATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATATAC TATATATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGT ATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATA TATATTTTATGTATAGTATATATACTGCATGTACTATATATATTTTATGT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATATACTATATATATT TTATGTATAGTATATATACTGTATATACTATATATATTTTATGTATAGTA TATATACTGTATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0095 a0001c0001t0020g0095	1	30	0.0333	862	c.505 others(881): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTATATACAGTATATATACTATACATAAAATATATATAGTA TATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATACATAAAATATAT ATAGTACATGCAGTATATATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAA TATATATAGTACATACTATACATAAAATATATATATAGTATATACAATGT ACATACTATATATAAAATATATATAGTACATACTATATATAAAATATATA TAGTACATACTATATATAAAATATATAGTACATACTATATATAAAATATA TAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATA TATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72456228	G G	GTACTCTA others(855): Show GTACTCTATATATTTTATATATAGTATGTACTCTATATATTTTATATATA GTATGTACTCTATATATTTTATATATAGTATGTACTATATATTTTATATA TAGTATGTACTATATATTTTATATATAGTATGTACTATATATATTTTATA TATAGTATGTACTATATATATTTTATATATAGTATGTACATTGTATATAC TATATATATATTTTATGTATAGTATGTACTATATATATTTTATGTATAGT ATGTACATTGTATATACTATATATATATTTTATGTATAGTATGTACTATA TATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTATAT ATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATATA CTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTACTA TATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTTAT GTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATATA TACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGTAC TATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATTTT ATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTATA TATACTGTATGTACTATATATATTTTATGTATAGTATATATACTGTATGT ACTATATATATTTTATGTATAGTATATATACTGTATGTACTATATATATT TTATGTATAGTATATATACTGTATGTACTATATATATTTTATGTATAGTA TATATACTGTATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0082 a0002c0002t0001g0082	1	30	0.0333	862	c.505 others(881): Show c.505-41258_505-41257insTATACAGTATATATACTATACATAAA ATATATATAGTACATACAGTATATATACTATACATAAAATATATATAGTA CATACAGTATATATACTATACATAAAATATATATAGTACATACAGTATAT ATACTATACATAAAATATATATAGTACATACAGTATATATACTATACATA AAATATATATAGTACATACAGTATATATACTATACATAAAATATATATAG TACATACAGTATATATACTATACATAAAATATATATAGTACATACAGTAT ATATACTATACATAAAATATATATAGTACATACAGTATATATACTATACA TAAAATATATATAGTACATACAGTATATATACTATACATAAAATATATAT AGTACATACAGTATATATACTATACATAAAATATATATAGTACATACAGT ATATATACTATACATAAAATATATATAGTACATACAGTATATATACTATA CATAAAATATATATAGTACATACAGTATATATACTATATATAAAATATAT ATAGTACATACAGTATATATACTATACATAAAATATATATAGTACATACT ATACATAAAATATATATATAGTATATACAATGTACATACTATACATAAAA TATATATAGTACATACTATACATAAAATATATATATAGTATATACAATGT ACATACTATATATAAAATATATATAGTACATACTATATATAAAATATATA TAGTACATACTATATATAAAATATATAGTACATACTATATATAAAATATA TAGTACATACTATATATAAAATATATAGAGTACATACTATATATAAAATA TATAGAGTACATACTATATATAAAATATATAGAGTA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar

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