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
TWIST2_chr2_238843085_238915534	238871138	C C	CCACACCC others(844): Show CCACACCCCACACACACCACACCCCACACACACCACACCCCACACACACC ACACCCCACACACACCACACCCCATACACACCACACCCCACACACACCAC ACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACACA CCACACACACACATCACATACCACACACACATCACATACCACACACAAAC CACACACCACACACACACCACACACCCCACACACACATCACATACCACAC ACAAACCACACACCCAACACACACATCACACACCACACACCCCACACACA CATCACATACCACACACAAACCACACACCCTACACACACCACACACCCCA CACACACATCACACACCACACACACCACACACACCCCACACACACCACAC ACACACATCACATACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACCACACACACACACCACACACACATCACATACC ACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACCAC ACACCCCACACACACACCACACACCCCACACACACATCACATACCACACA CAAACCACACACCCCACACACCCCACACACCACACACACACCACACACCC CACACACACATCACATACCACACACAAACCACACACCCTACACACACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	246	0.0041	851	c.35 others(870): Show c.35+22426_*35+22427insCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACCCCATACACACCACACCCCACACACACC ACACACCCCACACACACCACACAAACCACACACCCTACACACCCCACACA CACCACACACACACATCACATACCACACACACATCACATACCACACACAA ACCACACACCACACACACACCACACACCCCACACACACATCACATACCAC ACACAAACCACACACCCAACACACACATCACACACCACACACCCCACACA CACATCACATACCACACACAAACCACACACCCTACACACACCACACACCC CACACACACATCACACACCACACACACCACACACACCCCACACACACCAC ACACACACATCACATACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC ACCACACACCCCACACACACCACACACACACACCACACACACATCACATA CCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACACCACACACACACCACACAC CCCACACACACATCACATACCACACACAAACCACACACCCTACACACACC ACACACCCCACACACACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC CCCACACACCCCACACACACCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCN3_chr10_5359966_5379692	5370262	C C	CGTGTGTA others(844): Show CGTGTGTATGTGTGTGTATGTGTGTGTGTATGGGTGTGTATATGTGTGTA TGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTG TGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGTATATGCGTGTG TATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGTGTATATGTGTG TATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATCTG TGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGTATGTGTGTGTG TATCTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGTA TATGTGTGTATATGTGTGTGTACGTGTGTGTGTATGTGTGTATGTGTGTG TATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGTGTGTGTATGTG TATGTGTGTGTGTACGTGTGTGTATGTGTGTGTGTGTATATGCGTGTGTA TGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTATATGCGTGTGTA TGCGTGTGTATGGGTGTGTATATGTGTGTGTATGTGTGTGTATGTGTGTG TGTATGTGTGTATATGTGTGTGTATATGTGTGTATGTGTGTATATGTGTG TGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTG TATATGCGTGTGTATGTGTGTGTATGTGTGTGTATATGATGTGTGTGTAT ATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTGTATGCGTGTGT ATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGTGCGTGTGTGTGCGT GT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0169 a0002c0002t0002g0169	1	341	0.0029	851	c.-6- others(866): Show c.-6-3445_-6-3444insGTGTGTGTATGTGTGTGTGTATGGGTGTGT ATATGTGTGTATGTGTGTGTATGTGTGTGTATGTGTGTGTGTATGTGTGT GTATATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATGCGTGTGGGT ATATGCGTGTGTATGCGTGTGGGTATATGCGTGTGTGTGTATGCGTGTGT GTATATGTGTGTATGTGTGTGTATATGTGTGTGTATGTGTGTGTATGTGT GTGTGTATCTGTGTGTGTGTGTATGTGTGTATGTGTGTGTATATGTGTGT ATGTGTGTGTGTATCTGTGTGTGTGTGTGTATGTGTGTGTATGTGTGTGT GTATGTGTGTATATGTGTGTATATGTGTGTGTACGTGTGTGTGTATGTGT GTATGTGTGTGTATGTGTGTATGTGTGTATGTGTGTATGTGTGTGTATGT GTGTGTATGTGTATGTGTGTGTGTACGTGTGTGTATGTGTGTGTGTGTAT ATGCGTGTGTATGCGTGTGTGTATATGCGTGTGTATATATGCGTGTGTAT ATGCGTGTGTATGCGTGTGTATGGGTGTGTATATGTGTGTGTATGTGTGT GTATGTGTGTGTGTATGTGTGTATATGTGTGTGTATATGTGTGTATGTGT GTATATGTGTGTGTATATGCGTGTGTATATGCGTGTGTATGTGCGTGTGT ATGTGCGTGTGTATATGCGTGTGTATGTGTGTGTATGTGTGTGTATATGA TGTGTGTGTATATGCGTGTGTATATGCGTGTGTATATGCGTGTGTGTGTG TATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGCGTGTGTGTGTGCG TGTGTGTGCGTGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR62_chr19_36049897_36110108	36055621	A A	ACCAAGGT others(844): Show ACCAAGGTGGGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTAATTTATTT TTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAGGGT CATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAAAGG TCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTTGTG TCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCATGC TGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAATCC ATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTTGGG GGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTTAGT GCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGACAG GGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTCTAT TCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTTGGG CACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACA CC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0256 a0005c0016t0001g0256	1	417	0.0024	851	c.177 others(866): Show c.177+489_177+490insTTTTTTTTTTTTTTTTTTTTTTTTAATTTA TTTTTTTATTGATAATTCTTGGGTGTTTCTCACAGAGGGGGATTTGGCAG GGTCATGGGACAATAGTGGAGGGAAGGTCAGCAGATAAACAAGTGAACAA AGGTCTCTGGTTTTCCTAGGCAGAGGACCCTGCGGCCTTCCGCAGTGTTT GTGTCCCTGATTACTTGAGATTAGGGATTGGTGATGACTCTTAACGAGCA TGCTGCCTTCAAGCATCTGTTTAACAAAGCACATCTTGCACCGCCCTCAA TCCATTTAACCCTGAGTGGACACAGCACATGTTTCAGAGAGCACAGGGTT GGGGGTAAGGTCACAGATCAACAGGATCCCAAGGCAGAGAAATTTTTCTT AGTGCAGAACAAAATGAAAAGTCTCCCATGTCTACTTCTTTCTACACAGA CAGGGCAACCATCCGATTTCTCAGTCTTTTCCCCACCTTTCCCGCCTTTC TATTCCACAAAGCCGCCATTGTCATCCTGGCCCGTTCTCAATGAGCTGTT GGGCACACCTCCCAGACGGGGTGGTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCAGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGAGGCTGGCCGGGCGGGGGGGCTG ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTG ACACCCCAAGGTGGGATTCTT	WDR62	ENSG00000075702.19	transcript	ENST00000401500.7	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCB11_chr2_168915781_169036324	168975303	T T	TTATAAAT others(845): Show TTATAAATATATAAATATATACATATTTATATATTTATAGATAAATATAT ACATATTTATATATTTATAGATAAATATATACATAATTATATATTTATAC ATAAATGTATAAATATTTTTATATTTATACATAAATGTATAAATATTTTT ATATTTATACATAAATGTATAAATATTTTTATATTTGTACATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATGTAT AAATATTTTTATATTTATAGATAAATGTATAAATATTTTTATATTTATAG ATAAATGTATAAATATTTTTATATTTATAGATAAATGTATAAATATTTTT ATATTTATAGATAAATGTATAAATATTTTTATATTTATAGATAAATATAT AAATATATAAATATTTTTATATTTATAGATAAATATATAAATATATAAAT ATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	280	0.0036	852	c.130 others(871): Show c.1308+1273_1308+1274insTATATTTATATATTTATATATTTATC TATAAATATAAAAATATTTATATATTTATATATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATCTATAAATATAAA AATATTTATACATTTATCTATAAATATAAAAATATTTATACATTTATCTA TAAATATAAAAATATTTATACATTTATCTATAAATATAAAAATATTTATA CATTTATCTATAAATATAAAAATATTTATACATTTATGTACAAATATAAA AATATTTATACATTTATGTATAAATATAAAAATATTTATACATTTATGTA TAAATATAAAAATATTTATACATTTATGTATAAATATATAATTATGTATA TATTTATCTATAAATATATAAATATGTATATATTTATCTATAAATATATA AATATGTATATATTTATATATTTATA	ABCB11	ENSG00000073734.10	transcript	ENST00000650372.1	protein_coding	12/27			chr2	TogoVar
AFF2_chrX_148495617_149005663	148581249	C C	CATATACG others(845): Show CATATACGTATACGTATACACACATATACGTATACGTATACACACATATA CGTATACGTATACACACATATACGTATACGTATACACACATATACGTATA CGTATACACACATATACGTATACGTATACACACATATACGTATACGTATA CACACATATACACGTATACGTATACACACATATACACGTATACGTATACG TATACACACATATACACGTATACGTATACGTATACACACATATACACGTA TATACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACA CACATATATACACGTATATACGTATACGTGTACACACACACGTATATACG TATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTA TATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACA CACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTA CACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACATACACGTATACGTGTACACACACA TACGTATACGTGTACACACACATACGTATACGTGTACACACACATACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATATACGTATACGTGTACACACATATACA CGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0114 a0001c0001t0005g0114	1	112	0.0089	852	c.48- others(869): Show c.48-70736_48-70735insATACACACATATACGTATACGTATACAC ACATATACGTATACGTATACACACATATACGTATACGTATACACACATAT ACGTATACGTATACACACATATACGTATACGTATACACACATATACGTAT ACGTATACACACATATACACGTATACGTATACACACATATACACGTATAC GTATACGTATACACACATATACACGTATACGTATACGTATACACACATAT ACACGTATATACGTATACGTGTACACACATATACACGTATATACGTATAC GTGTACACACATATATACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACACACGTATATACGTATACGTGTACACACACACGTATATACGTAT ACGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATAT ACGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACAC GTATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACAC ACACACGTATATACGTATACGTGTACACACACATACACGTATACGTGTAC ACACACATACGTATACGTGTACACACACATACGTATACGTGTACACACAC ATACGTATACGTGTACACACATATACACGTATACGTGTACACACATATAC ACGTATACGTGTACACACATATACACGTATATACGTATACGTGTACACAC ATATACACGTATATACGTATACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARHGEF10_chr8_1818926_1963641	1825105	C C	CCCCCCGC others(845): Show CCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCC CACCTGTCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCTGCACCCCA CCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTG CACCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGT CCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCC CACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCC GCACCCCACCTGTCCCCCCGCACCCCACCTGTTCACCCGCACCCCACCTG TTCACCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACC CCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCACCCCACCTGTTCAC CTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCA CCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCGCACCCCACCTGTCC TCCCCACACCCCACCTGTTTACTCTGCACCCCAGCTGTCCCCCCACACCC CACCTGTTCACCCGCACTCCACCTGTCCCCCCGCACTCCACCTGTCCCCC CGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCCCCCCGCACCCCACC TGT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0264 a0001c0002t0020g0264	1	328	0.0030	852	c.-48 others(867): Show c.-48+997_-48+998insGCACCCCACCTGTCCCCCTGCACCCCACCT GTTCACCTGCACCCCACCTGTCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCG CACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGT TCACCTGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCC CACCTGTCCCCCTGCACCCCACCTGTTCACCTGCACCCCACCTGTCCCTC CGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCT GTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCAC CCCACCTGTCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTTCAC CCGCACCCCACCTGTTCACCCGCACCCCACCTGTCCCCCCGCACCCCACC TGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCTGCA CCCCACCTGTTCACCTGCACCCCACCTGTCCCTCCGCACCCCACCTGTCC CCCCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCGCACCCCA CCTGTCCCCTCGCACCCCACCTGTCCCCCCGCACCCCACCTGTCCCCTCG CACCCCACCTGTCCTCCCCACACCCCACCTGTTTACTCTGCACCCCAGCT GTCCCCCCACACCCCACCTGTTCACCCGCACTCCACCTGTCCCCCCGCAC TCCACCTGTCCCCCCGCACCCCACCTGTCCCCCCTGCACCTCACCTGTCC CCCCGCACCCCACCTGTCCCCC	ARHGEF10	ENSG00000104728.16	transcript	ENST00000349830.8	protein_coding	1/28		INFO_REALIGN_3_PRIME	chr8	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAG ATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAA AAATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGT GGCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGC TATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAA TGATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCT CACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCT GAGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTC TACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAA AAAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	27	0.0370	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTT AAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTTG GCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGG GAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTT TTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCAG GCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCCC AAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATATA TTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGTT GACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTTC CACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTTT CTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCCC AGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCTC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTA GTCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCC AGGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCT GGTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAA AAAAAAAAAATACATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0215 a0001c0001t0005g0215	1	27	0.0370	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATGTATTTTTTTTTTTTTTTTTAATATATATTCTTTTTTTTT AAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTCG GCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAGG GAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTTT TTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCA GGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATAT ATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGT TGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTT CCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTT TCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCT CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAACCGAGA TCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCAAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0226 a0001c0001t0003g0226	1	27	0.0370	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTT TAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTT GGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAG GGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTT TTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCA GGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATAT ATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGT TGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTT CCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTT TCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCACGATCTCGGTTCACTGCAAGCTCCGCCTCT CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
ASB9_chrX_15238987_15275083	15267555	T T	TAACATGG others(845): Show TAACATGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAAAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGAGAGGCGGAGCTTGCAGTGAGCCGAGA TCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACACTGTCTCAAA AATAAAAAAGAAAAAAGAAAAGAAAAAGAAACCCTGAACAGTGAATAGTG GCTGGTGCCTCTCTCCCATGTGGAAACAAAAATAAATACAATACTTAGCT ATAAAATAACGGTGCAGAAGTCAACCAAATTACCGATTCTTTCCCATAAT GATTGGTTTGCTACTTTAAAAATATATTTATCGGCTGGGCACGGTGGCTC ACACCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGCAGACTTCCCTG AGCTCAAGAGTTGGAGACCAGCCTGGGCAACATGGTGAAACCCCGTCTCT ACTAAAATACAAAAAAAAAAAAAAAAAATTAGCCAGGCGTGTGCCTGTAG TCCCACCTAGTCCCTGCCTCTCCCTCCTGAGGCAGAATTGCTTGAACCCA GGAGGCTGAGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCAGCCTG GTAACAGAGTGAGACTCCGTTTAAAAAAAAAGAATATATATTAAAAAAAA AAAAAAAATACATATATATATATATATATATATATATTTAAAATTCCTTG TAAAAAGTGGCTGGGCGTGGTGGCCCACACCTGTAATCCCAGCACTTTGG GAGGCCAAAGGAGGCCAATCACTTGAGGTCAGGAGTTCAAGACCAGCCTG GCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp1 HG02965.hp1 others(1): Show HG02258.hp1 HG02818.hp1 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 others(1): Show a0001c0001t0005g0204 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0207	4	30	0.1333	852	c.94+ others(867): Show c.94+2225_94+2226insGGCCAGGCTGGTCTTGAACTCCTGACCTCA AGTGATTGGCCTCCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGG CCACCACGCCCAGCCACTTTTTACAAGGAATTTTAAATATATATATATAT ATATATATATATGTATTTTTTTTTTTTTTTTAATATATATTCTTTTTTTT TAAACGGAGTCTCACTCTGTTACCAGGCTGGAGTGCAGTGGCACCATCTC GGCTCACTGCAACCTCAGCCTCCTGGGTTCAAGCAATTCTGCCTCAGGAG GGAGAGGCAGGGACTAGGTGGGACTACAGGCACACGCCTGGCTAATTTTT TTTTTTTTTTTTTGTATTTTAGTAGAGACGGGGTTTCACCATGTTGCCCA GGCTGGTCTCCAACTCTTGAGCTCAGGGAAGTCTGCCCGCCTCGGCCTCC CAAAGTGCTAGGATTACAGGTGTGAGCCACCGTGCCCAGCCGATAAATAT ATTTTTAAAGTAGCAAACCAATCATTATGGGAAAGAATCGGTAATTTGGT TGACTTCTGCACCGTTATTTTATAGCTAAGTATTGTATTTATTTTTGTTT CCACATGGGAGAGAGGCACCAGCCACTATTCACTGTTCAGGGTTTCTTTT TCTTTTCTTTTTTCTTTTTTATTTTTGAGACAGTGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAAGCTCCGCCTCT CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACA GGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTTTTTGTATTTTTTAGT AGAGACGGGGTTTCACCATGTT	ASB9	ENSG00000102048.16	transcript	ENST00000380488.9	protein_coding	1/6			chrX	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCGGCCC others(845): Show TGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGG CCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGAC GCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCCAGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCC CCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTG CGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCAC CCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCCGCAGCCCCGTCCGGGC CCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCT GGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCC CGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCG TCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCC GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	223	0.0045	852	c.36 others(863): Show c.3604_*3605insGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCC GCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCC CGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCCGCAGCCCCGTCC AGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC GCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC TCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGC AGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCC GGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGAC GCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCCG CAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCGTGC GTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCC CACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAG CCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
CAMK2B_chr7_44212154_44330594	44254776	T T	TACCATCA others(845): Show TACCATCATCACCAACCACCATCACCATCACCACCACCATCACCACCAAC CACCATCACCATCACCACCACCATCACCACCAACCAACATCACCATCACC ACCACCATCACCACCAACCACCATCACCATCACCACCACCATCACCACCA ACCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCATCA CCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACCAC CACCCAACATCACCATCACCACCACCATCACCACCAACCAACATCACCAT CACCACCACCATCACCACCAACCAACATCACCATCACCACCACCATCACC ACCAACCAACATCACCATCACCACCACCACCATCACCACCAACCAACATC ACCATCACCACCACCATCACCACCAACCGACATCACCACCACTACCACCA TCACCAGCATCATCACCACCATCACCACCACCACGACCATCACCACCAAC CAACATCACCATCACCACCACCATCACCACCAACCATCACCATCACCACC ACCATCACCACCAACCGACATCACCACCACTACCACCATCACCAGCATCA TCACCACCATCACCACCACCACCACCATCACCAACATCACCACCACCATT ACCATCACCACCACCACCACCACCACCACCATCATCACCATCACCATCAT TACCACCATGACCATCACCAACACCACTACCACCATCACTACCACCATCA CCATCACCAACACCACCACCATCACCACCATCACCATCACTGCCACCACC ATCATCACTATCACCATCACCACCATCACACCATTACCATTATCATCACC ACC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0056 a0001c0003t0002g0056	1	154	0.0065	852	c.276 others(867): Show c.276-170_276-169insGGTGGTGATGATAATGGTAATGGTGTGATG GTGGTGATGGTGATAGTGATGATGGTGGTGGCAGTGATGGTGATGGTGGT GATGGTGGTGGTGTTGGTGATGGTGATGGTGGTAGTGATGGTGGTAGTGG TGTTGGTGATGGTCATGGTGGTAATGATGGTGATGGTGATGATGGTGGTG GTGGTGGTGGTGGTGGTGATGGTAATGGTGGTGGTGATGTTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGG TGATGTCGGTTGGTGGTGATGGTGGTGGTGATGGTGATGGTTGGTGGTGA TGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTCGTGGTGGTGGT GATGGTGGTGATGATGCTGGTGATGGTGGTAGTGGTGGTGATGTCGGTTG GTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGG TGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTT GGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGT GGTGGTGATGGTGATGTTGGGTGGTGGTGATGGTGGTGGTGATGGTGATG TTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGATG GTGGTGGTGATGGTGATGTTGGTTGGTGGTGATGGTGGTGGTGATGGTGA TGGTGGTTGGTGGTGATGGTGGTGGTGATGGTGATGTTGGTTGGTGGTGA TGGTGGTGGTGATGGTGATGGTGGTTGGTGGTGATGGTGGTGGTGATGGT GATGGTGGTTGGTGATGATGGT	CAMK2B	ENSG00000058404.21	transcript	ENST00000395749.7	protein_coding	4/23			chr7	TogoVar
CDH4_chr20_61247261_61945617	61943484	C C	CCTCTCAC others(845): Show CCTCTCACCGACGACGAGGAGCACTGCGACCGTCGGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCCC CCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCCCTCTCACCG ACGACGAGGAGCACTGCGACCGCTAGCACCGTGGCCGCCTCGCGACGGCG CCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCCTCTCACCGACCACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCCTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACAACGAGGAGCACTGCGACCGTCTGCCCCGTGGCCGCC CCTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACTGACGATGAGGAGCATTGCGACTGTATGCACCGTGGCCGCC CCTTCTCACCGACGACGAGGAGCACTGCGACCGTCTGCACCGTGGCCGCC CCTTCTCACTGACGATGAGGAGCACTGCGACTGTATGCACCGTGGCCGCC CCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0014 a0002c0002t0004g0014	1	96	0.0104	852	c.65 others(863): Show c.6541_*6542insCTCTCACCGACGACGAGGAGCACTGCGACCGTCG GCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCT GCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTCT GCACCCCTCTCACCGACGACGAGGAGCACTGCGACCGCTAGCACCGTGGC CGCCTCGCGACGGCGCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACCACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACAACGAGGAGCACTGCGACCGTC TGCCCCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGTA TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGTA TGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCACTGCGACTGTA TGCACCGTGGCCGCCCCT	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding		2868		chr20	TogoVar
COMMD9_chr11_36267292_36294424	36287120	T T	TACAATGT others(845): Show TACAATGTATATCATGTAGTATGTATACTACATACTATGTATATCATGTA GTATGTATACTACATACTATGTATATCATGTAGTATGTATACTACTATGT ATATCATGTAGTATGTATACTACTATGTATATCATGTAGTATGTATACCA CATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATG TAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATA CTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGT ATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTAT GTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGT ATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGTAT ATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATAC CACATACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCA TGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACA TACTATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTA GTATGTATACCACATACTATGTATATCATGTAGTATGTATACCACATACT ATGTATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTAT GTATACCACATACTATGTATATCATGTAGTATGTATACCACATACTATGT ATATCATGTAGTATGTATACCACATACTATGTATATCATGTAGTATGTAT ACC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	348	0.0029	852	c.51+ others(867): Show c.51+2241_51+2242insGGTATACATACTACATGATATACATAGTAT GTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTACAT GATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGG TATACATACTACATGATATACATAGTATGTGGTATACATACTACATGATA TACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATA CATACTACATGATATACATAGTATGTGGTATACATACTACATGATATACA TAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATA CTACATGATATACATAGTATGTGGTATACATACTACATGATATACATAGT ATGTGGTATACATACTACATGATATACATAGTATGTGGTATACATACTAC ATGATATACATAGTATGTGGTATACATACTACATGATATACATAGTATGT GGTATACATACTACATGATATACATAGTATGTGGTATACATACTACATGA TATACATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTA TACATACTACATGATATACATAGTATGTGGTATACATACTACATGATATA CATAGTATGTGGTATACATACTACATGATATACATAGTATGTGGTATACA TACTACATGATATACATAGTATGTGGTATACATACTACATGATATACATA GTAGTATACATACTACATGATATACATAGTAGTATACATACTACATGATA TACATAGTATGTAGTATACATACTACATGATATACATAGTATGTAGTATA CATACTACATGATATACATTGT	COMMD9	ENSG00000110442.12	transcript	ENST00000263401.10	protein_coding	1/5			chr11	TogoVar
CSMD1_chr8_2930361_4999914	4258514	G G	GGAGGGAG others(845): Show GGAGGGAGGGAGGGAGGGAGGGGAGGATGGAAGGAGGGAGGGAGGGGAGG ATGGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGAT GGAAGGAGGGAGGGAGGGGAGGACAGAGGGAGGGAGGGAGGGGAGGACGG AAGGAGGGAAGGAGGGAGGCGAGGCTAGAAGGAGGGAGGGATGGAGGGAG GGATGGAAGGATGGAGGGAGGAAAGAATGGAGGGAGGGAGGGAGGGAAGA ATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGGAG GGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAGGG AGGTAAGAATGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAGGGGA GAATGGAGGAAGGGAGGGAGGGAGGGAAGAATGGAGGGAAGAATGGAGGG AGGGAGGGAGGGAGGGAAGAATGGAGGGAGGGAGGGAAGGAAGAATGGAG GGAGGTAAGAATGGAGGGAGGGAGGGAAGAATGCAGGGAGGGAGGGAGGG AAGAATGCAGAGAGGGAGGGAAGAATGGAAGAATGGAGGGAGGGAAGAAT GGAGGGAGGGAAGAGTGGAAGAATGGAGAGAGGGAAGAGTGGAAGAATGG AGGGAGGGAAGAGTGGAAAAATGGAGGGAGCGAGTGAGGGAGGGAAGAAT GGAAGAATGGAAGAATGGAGGGAGGGAAGAATGCAAGACTGGAGGGAGGG AAGAATGCAAGACTGGAGGGAGGGAAGAATGGAAGAATGGACGGAAGGAA GAGTGGAAGAATGGAGGGAGGGAGGGAGGGAGGGAGGCAGGGAAGAGTGG AAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02615.hp2 HG02922.hp1 others(4): Show HG01123.hp1 HG02615.hp2 HG02922.hp1 HG03195.hp1 HG03209.hp2 HG03516.hp2 HG06807.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0022 a0030	a0001c0004 a0001c0068 a0002c0054 others(4): Show a0001c0004 a0001c0068 a0002c0054 a0002c0060 a0006c0008 a0022c0062 a0030c0106	a0001c0004t0063 a0001c0068t0015 a0002c0054t0079 others(4): Show a0001c0004t0063 a0001c0068t0015 a0002c0054t0079 a0002c0060t0007 a0006c0008t0082 a0022c0062t0057 a0030c0106t0014	a0001c0004t0063g0095 a0001c0068t0015g0049 a0002c0054t0079g0096 others(4): Show a0001c0004t0063g0095 a0001c0068t0015g0049 a0002c0054t0079g0096 a0002c0060t0007g0094 a0006c0008t0082g0126 a0022c0062t0057g0062 a0030c0106t0014g0042	7	8	0.8750	852	c.415 others(873): Show c.415+161438_415+161439insGTTCCACTCTTCCCTGCCTCCCTC CCTCCCTCCCTCCCTCCATTCTTCCACTCTTCCTTCCGTCCATTCTTCCA TTCTTCCCTCCCTCCAGTCTTGCATTCTTCCCTCCCTCCAGTCTTGCATT CTTCCCTCCCTCCATTCTTCCATTCTTCCATTCTTCCCTCCCTCACTCGC TCCCTCCATTTTTCCACTCTTCCCTCCCTCCATTCTTCCACTCTTCCCTC TCTCCATTCTTCCACTCTTCCCTCCCTCCATTCTTCCCTCCCTCCATTCT TCCATTCTTCCCTCCCTCTCTGCATTCTTCCCTCCCTCCCTCCCTGCATT CTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTCCC TCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCATT CTTCCCTCCCTCCCTCCCTTCCTCCATTCTCCCCTCCCTCCCTCCCTCCA TTCTTCCCTCCCTCCCTCCATTCTTACCTCCCTCCATTCTTCCTTCCCTC CCTCCCTCCATTCTTCCCTCCCTCCCTCCCTCCCTCCATTCTTCCCTCCA TTCTTCCCTCCCTCCCTCCCTTCCTCCATTCTTCCCTCCCTCCCTCCCTC CATTCTTTCCTCCCTCCATCCTTCCATCCCTCCCTCCATCCCTCCCTCCT TCTAGCCTCGCCTCCCTCCTTCCCTCCTTCCGTCCTCCCCTCCCTCCCTC CCTCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCC TCTGTCCTCCCCTCCCTCCCTCCTTCCATCCTCCCCTCCCTCCCTCCTTC CATCCTCCCCTCCCTCCCTCCCTCCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DGCR8_chr22_20075241_20116872	20075553	C C	CGAGACCA others(845): Show CGAGACCAGCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATATA AAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAATCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGGCGGAGCTTGCAGTGA GCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGACAGAACGAGACTCTG TCTCAAAAAAAAAAAAAGAAAATAATAATAATAATAATATTAAAAGGTAA ACAGAAATCTTCATAATCTCAAATACTGTAAGAAAACTTTGTCATTTCAA CAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCACTACTAATAAAGCTA ATTTTAACAAAACCTTATAAATGAATCCATCCAATCTCACGCAAGATAAT ATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGTAGTGGCGCTGTCTTG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCGGCTAATTT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCAGATTTCTTTTCTATAGAT GTTTTACAACTTAAAAAAAATATCTGGCCGGGCACCGTGGCTCATGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGGCAGGAG ATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 NA18967.hp1 NA18985.hp1 HG00438.hp2 NA18967.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0002 a0001c0001t0007g0009 a0001c0001t0007g0043 a0001c0001t0003g0002 a0001c0001t0007g0009 a0001c0001t0007g0043	3	4	0.7500	852	c.-51 others(863): Show c.-5108_-5107insGAGACCAGCCTGGCTAACACGGTGAAACCCTGTC TCTACTAAAAATATAAAAAATTAGCCAAGCGTGGTGGTGGGCGCCTATAA TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATTGCATGAACCCGGGAGG CGGAGCTTGCAGTGAGCCAAGACTGTGCCATTGCACTCCAGCCTGGGCGA CAGAACGAGACTCTGTCTCAAAAAAAAAAAAAGAAAATAATAATAATAAT AATATTAAAAGGTAAACAGAAATCTTCATAATCTCAAATACTGTAAGAAA ACTTTGTCATTTCAACAGAGAAGATCAAGTTAAAGTTCTGCATCATAGCA CTACTAATAAAGCTAATTTTAACAAAACCTTATAAATGAATCCATCCAAT CTCACGCAAGATAATATTTCTTTTCCAAGATTTCTTTTCTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTTTCGCCCAGGCTGGAGTGT AGTGGCGCTGTCTTGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACC ACGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGT GTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAT TTCTTTTCTATAGATGTTTTACAACTTAAAAAAAATATCTGGCCGGGCAC CGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGA TCATGAGGGCAGGAGATT	DGCR8	ENSG00000128191.17	transcript	ENST00000351989.8	protein_coding		4687		chr22	TogoVar
DGKB_chr7_14140049_14907751	14471369	A A	ACATACAT others(845): Show ACATACATATATGTGTGTATATATGTGTATACATACATATATGTGTGTAT ATATGTGTATACATACATATATGTGTGTATATATGTGTATATATACATAT ATGTGTGTATATATACATATATGTGTGTATATGTGTGTATACATACATAT ATGTGTGTATATGCGTGTATATATGTGTATACACACATATGCGCGTGTAT ATATGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACACATAT GCGCGTGTATATGTGTGTATACACACATATGCGCGTGTATATGTGTGTAT ACACACATATGCGCGTGTATATGTGTGTATACACACATATGCGCGTGTAT ATGTGTGTATACACACATATGCGCGTGTATATGTGTGTATACACATATGC GCGTGTATATGTGTGTATACACATATGCGTGTGTATATGTGTGTATATAC ATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATATGTGTGT ATATACATATGCGTGTGTATATGTGTGTATATACATATGCGTGTGTATAT GTGTGTATATACATATATATGAGTGTATATGTGTGTATATACATATATAT GAGTGTATATATGTGTATATATACATATATATGCGTGTATATATACGTAT ATATGCATGTATATATGTGTATACATACATATATGCATGTATATATGTGT ATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0140 a0002c0005t0006g0140	1	78	0.0128	852	c.183 others(871): Show c.1835+6791_1835+6792insAATACACATATATACATGCATATATG TATGTATACACATATATACATGCATATATACGTATATATACACGCATATA TATGTATATATACACATATATACACTCATATATATGTATATACACACATA TACACTCATATATATGTATATACACACATATACACACGCATATGTATATA CACACATATACACACGCATATGTATATACACACATATACACACGCATATG TATATACACACATATACACACGCATATGTATATACACACATATACACACG CATATGTGTATACACACATATACACGCGCATATGTGTATACACACATATA CACGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATA CACACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATA TGTGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATA CACGCGCATATGTGTGTATACACACATATACACGCGCATATGTGTGTATA CACACATATACACGCGCATATGTGTGTATACACACATATACACGCGCATA TGTGTGTATACACACATATACACGCGCATATGTGTGTATACACACATATA CACGCGCATATGTGTGTATACACATATATACACGCGCATATGTGTGTATA CACATATATACACGCATATACACACATATATGTATGTATACACACATATA CACACATATATGTATATATACACACATATATGTATATATACACATATATA CACACATATATGTATGTATACACATATATACACACATATATGTATGTATA CACATATATACACACATATATGTATG	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	21/25			chr7	TogoVar
DPEP1_chr16_89608642_89643433	89635050	C C	CCCTTTCC others(845): Show CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCC CTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCCTTCCTTC CCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCC TTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCCTTC CTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02135.hp1 HG02083.hp2 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0028 a0002c0002t0001g0029	2	232	0.0086	852	c.105 others(867): Show c.105-858_105-857insCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCC CTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCTCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCCTTCC TTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTC TCCTTTCCCTTCCTTCTCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTC CTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCCTTCCTT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89635168	T T	TCCCCTTC others(845): Show TCCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CCCTTTCCCTTCCTTCCCTTTCCCTTCTTCCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCTTCCTTCCCTTTCCCTCCTTCTCCTTTCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCCTTTCCCTTCCTTCCCTTTCCCTT CCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCTTTCCCCTCCTTCTTCT TTC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	215	0.0047	852	c.105 others(867): Show c.105-737_105-736insCTTCCTTCCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCTTCCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCTTCCTTCCCTTTCCCTCCT TCTCCTTTCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTT CCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCTTTCCCT TCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTT CTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCC TTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTT TCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCC CTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTC CTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCT CCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCCTCCTTCTCCT TTCCCCTCCTTCTTCTTTCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGT others(845): Show GGTGTGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGATG GAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGGG TGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGAGG CTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGG GGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGCTG GTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGGGG AGGCTGGTGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCTGGC GGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGC GGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGGGTG GAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGG GTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAG GCTGGTGGCAGCGGTGTGGGCGGAGGCTGGGGTAGGGGAGGCTGGCGGCA GCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAAGGCTGGTGGACAGCGG TGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAGCGGTGTGGGTGG AGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGG TGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGTGAGGAGG CTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGTGGCA GCA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	96	0.0104	852	c.119 others(871): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGTCCACCAGCCTTCCCCT CACCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCA GCCTCCGCCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCC ACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTG CCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCACTGCCACCAGCC TCCCCTCACCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCTCACC CCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCT CCACCCACACCGCTGCTGCACCAGCCTCCCCCACCCCAGCCTCCCCTCAC CCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTC CATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTCCACCCACACT GCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCTCACCCCAGCCTCCACC CACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCATCCACAGTGCT GCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCTGCCACCAGCC TCCTCTTACCCCAGCCTCCACCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FHIT_chr3_59742277_61256452	60861215	T T	TATATGAT others(845): Show TATATGATATATATGATATATATGATATATATGATATATATGATATATAT GATATATATCATATATATGATATATATGATATATATCATATATATGATAT CATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATCATATCATATATGATATATATGATATATAT GATATATCATATCATATCATATATGATATATATGATATATATGATATATC ATATCATATCATATATGATATATATGATATATATGATATATCATATCATA TCATATATGATATATATGATATATATGATATATCATATCTATCATATATG ATATATATGATATATATGATATATCATATCATATCATATATGATATATAT GATATGATATGATATATCATATCATATCATATATGATATATATGATATGA TATGATATATCATATCATATCATATATGATATATATGATATGATATGATA TATCATATCATATCATATATGATATATATGATATGATATGATATATCATA TCATATCATATATGATATATATGATATGATATGATATATCATATCATATC ATATATGATATATATGATATATATGATATATCATATCATATCATATATGA TATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATCATATCATATATGATATATATGATATATAT GATATATCATATCATATAATATATGATATATATGATATATATGATATATC ATATCATATATGATATATATGATATATATGATATATCATATCATATATGA TAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	35	0.0286	852	c.-11 others(873): Show c.-110-39205_-110-39204insGTATCATATATGATATGATATATC ATATATATCATATATATCATATATGATATGATATATCATATATATCATAT ATATCATATATTATATGATATGATATATCATATATATCATATATATCATA TATGATATGATATGATATATCATATATATCATATATATCATATATGATAT GATATGATATATCATATATATCATATATATCATATATGATATGATATGAT ATATCATATATATCATATATATCATATATGATATGATATGATATATCATA TCATATCATATATATCATATATGATATGATATGATATATCATATCATATC ATATATATCATATATGATATGATATGATATATCATATCATATCATATATA TCATATATGATATGATATGATATATCATATCATATCATATATATCATATA TGATATGATATGATATATCATATCATATCATATATATCATATATGATATG ATATGATATATCATATATATCATATATATCATATATGATAGATATGATAT ATCATATATATCATATATATCATATATGATATGATATGATATATCATATA TATCATATATATCATATATGATATGATATGATATATCATATATATCATAT ATATCATATATGATATGATATGATATATCATATATATCATATATATCATA TATGATATGATATGATATATCATATATATCATATATATCATATATGATAT GATATGATATATCATATATATCATATATGATATCATATATATGATATATA TCATATATATCATATATATGATATATATCATATATATCATATATATCATA TATATCATATATATCATATATATCATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FOXP1_chr3_70949708_71588728	71435881	A A	AAGGGACG others(845): Show AAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGA GGGAGGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGG AGGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGAC GGAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGGAGGGACGGAGGGAGGG AGGGAGGAAAAAAGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGG GACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGA GGGAAGAAGGGACGGAGGGAGGGAGGGAGGAAAAAAGGAGGGAGGGAGGG AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGGAGGGACGGAG GGAGGGAGGGAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGA AGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAG GGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGAGGG AGGAAAAAAGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGGAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAGGAAGGGACGGAGGGAGGGAAGAAGGGACGGAGGGAGGGA GGAAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGAGGAAGGGACG GAGGGAGGGAAGGAGGGACGGAGGGAGGGAGGAAGGGACGGAGGGAGGGA AGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0043 a0001c0001t0045g0043	1	86	0.0116	852	c.-16 others(873): Show c.-168+57544_-168+57545insCCTTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTCCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCTT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCT CCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCC GTCCCTCCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTT CTTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTC CCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCGTCCCTCCCTCCCTCCC TCCGTCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTTC CTCCCTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCT CCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCC CTCCCTCCCTCCCTCCTTTTTTCCTCCCTCCCTCCCTCCGTCCCTCCTTC CCTCCCTCCGTCCCTTCCTCCCTCCCTCCGTCCCTTCCTCCCTCCCTCCG TCCCTTCCTCCCTCCCTCCGTCCCTCCCTCCCTCCCTCCTTTTTTCCTCC CTCCCTCCCTCCGTCCCTTCTTCCCTCCCTCCGTCCCTTCCTCCCTCCCT CCGTCCCTTCCTCCCTCCCTCCGTCCCT	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GALNT9_chr12_132191372_132334589	132241342	G G	GCCACACC others(845): Show GCCACACCCCCTTCCGGGGCCCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGACCCTCCCTATACCAATTACACACACAACACACACCC TTCCAGGGGCCCTCCCTATACCCATTACACACATGCCACACCCCCTTCCC AGGGCCCTCCCTATCCCCATTACACACACAACACACCCCCTTCCAGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACACCACACACCCTTCCAGGGGCCCTCCCTATA CCCATTACACACACGCCACACACCCTTCCCTTGGCCGTCCCTATACCCAT TACACACACGCCACACCACCTTCCCGGGGCCCTCCCTATACCCATTACAC ACACGCCACACACCCTTACAGGGGCCCTCCCTATACCCATTACACACACG CCACACCCCCTTCCTGGGGACCTCCCTATACCCATTACACACACGCCACA CACCCTTCCCGGGGCCCTCCCTATACCCATTACACACACGCCACACCCCC TTCCCAGGGACCTCCCTATCCCCATTACACACACGCCACACCCCCTTCCC GGGGCCCTCCCTATACCCATTACACACACGCCACACACCCTTCCCGGGGC CCTCCCTATACCCATTACACACACGCCACACCCCCTTCCCGGGGCCCTCC CTATACCCATTACACACACAACACACACTTCCCGGGGCCCTCCCTATACC CATTACACACACGCCACACACCCTTCCCGGGGCCCTCCCTATACCCATTA CACACACAACACACACCCTTCCCGGGGCCCTCCCTATACCCATTACACAC ACA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	178	0.0056	852	c.107 others(871): Show c.1077+6567_1077+6568insTGTGTGTGTAATGGGTATAGGGAGGG CCCCGGGAAGGGTGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCG GGAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAG TGTGTGTTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGT GTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGTGGCGTGTGTG TAATGGGGATAGGGAGGTCCCTGGGAAGGGGGTGTGGCGTGTGTGTAATG GGTATAGGGAGGGCCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGTCCCCAGGAAGGGGGTGTGGCGTGTGTGTAATGGGTATAGGGA GGGCCCCTGTAAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCC CCGGGAAGGTGGTGTGGCGTGTGTGTAATGGGTATAGGGACGGCCAAGGG AAGGGTGTGTGGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGG TGTGTGGTGTGTGTGTAATGGGTATAGGGAGGGCCCCGGGAAGGGGGTGT GGCGTGTGTGTAATGGGTATAGGGAGGGCCCCTGGAAGGGGGTGTGTTGT GTGTGTAATGGGGATAGGGAGGGCCCTGGGAAGGGGGTGTGGCATGTGTG TAATGGGTATAGGGAGGGCCCCTGGAAGGGTGTGTGTTGTGTGTGTAATT GGTATAGGGAGGGTCCCGGGAAGGGTGTGTGGCGTGTGTGTAATGGGTAT AGGGAGGGCCCCGGAAGGGGGTGTGG	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
HIVEP3_chr1_41501365_41923922	41544953	T T	TCTACCAC others(845): Show TCTACCACCTCTACCACCACGACCACCACTACCACCTCTACCACCACCAT CACCACCACCACCACCACCATCACCACCTCTACCACCACCACCACCACCA CCACTACCACCTCTACCACCACCACCACCACCACCACTACCACCTCTACC ACCTCTACCACCACCACCACCATCACCTCTACCACCACCATCACCACCAC CATCACCACCACCTCTACCACCACCATCACCACCACCACCACCACCACCT CTACCACCACCATCACCTCTACCACCACCATCACCACCACCACCACCATC ACCACCTCTACCACCACTGCTACCATCACCACCACCACCACTACCACCTG TACCACCACTGCTACCATCACCACCACTACCACCACCATCACCACCACTA CCACTACCTCTACCTCCACTGCTACCATCACCACCACCACCACCACCTCT ACCACCACCATCACCACCACCACCACCACTACCACCTCTACCACCACCAT CACCACCACCACTACCACCACCACCACCACCACCACCACCACCACTACCA CCTCTACCACCTCTACCACCACTACCACCTCTACCACCTCTACCACCACC ATCATCACCACCACCACTACCACCTCTACCACCTCTACCACCACGACCAC CACTACCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCT CTACCACCACCATCACCACCACCACTATCACCACCTCTACCACCACCATC ACCACCACCACCACCACCACCTCTACCACCACCATCACCACCACCACCAC CATCACCTCTACCACCACCATCACCACCACCACCACCACCTCTACCACCA TCG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0120 a0001c0001t0018g0120	1	19	0.0526	852	c.520 others(873): Show c.5208-20044_5208-20043insCGATGGTGGTAGAGGTGGTGGTGG TGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTAGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGT GATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTAGAGGTGGTAGTGGTGGTCGTGGTGGTAGAGGTG GTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGGTAGAGGTGGTAGA GGTGGTAGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGG TGGTGGTGGTGGTGGTAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGT GATGGTAGCAGTGGAGGTAGAGGTAGTGGTAGTGGTGGTGATGGTGGTGG TAGTGGTGGTGATGGTAGCAGTGGTGGTACAGGTGGTAGTGGTGGTGGTG GTGATGGTAGCAGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGATGGTGGTGGTAGAGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGGTAGAGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGT GGTGGTGGTGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTAG AGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTCGTGGTGGTAGAGGTGGTAG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399214	C C	CCACCACC others(845): Show CCACCACCACCACCACCGCCGCTGCCGCTACCACCATCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA CCACCACCATCACCACCACCACCACCATCACCACCATCACCACCATCACC ATCACCACCACCACCACCACCACCATCACCACCATCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCACCATCACCACCACCATCACCA TCACCACCACCATCACCACCACCATCATCACCGCCACCACCACCACCACC ACCATCATCACCGCCGCCACCACCACCACCATCATCACCACCATCACCAT CACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCA CCACCACCATCATCACCGCCACCACCACCACCACCACCATCATCACCGCC GCCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCAC CACCACCATCATCACCGCCACCACCACCACCACCACCATCATCACCGCCG CCACCACCACCACCATCATCACCACCATCACCATCACCACCACCACCACC ATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCATCACCACCATCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCACCAC CAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	301	0.0033	852	c.-25 others(869): Show c.-25+2310_-25+2311insGCCGCTGCCGCTACCACCATCACCACCA CCACCACCACCATCACCACCACCACCACCACCACCATCACCACCATCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCACCATCACCACCACCACCACCATCACCACCATCACCACCA TCACCATCACCACCACCACCACCACCACCATCACCACCATCACCATCACC ACCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCAT CACCATCACCACCACCATCACCACCACCATCATCACCGCCACCACCACCA CCACCACCATCATCACCGCCGCCACCACCACCACCATCATCACCACCATC ACCATCACCACCACCACCACCATCACCACCACCATCACCATCACCACCAC CATCACCACCACCATCATCACCGCCACCACCACCACCACCACCATCATCA CCGCCGCCACCACCACCACCATCACCACCACCATCACCATCACCACCACC ATCACCACCACCATCATCACCGCCACCACCACCACCACCACCATCATCAC CGCCGCCACCACCACCACCATCATCACCACCATCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCATCACCACCATCACCATCACCACCACCACCACCACCA CCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCATC ACCACCATCACCACCACCACCACC	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HPCAL1_chr2_10297904_10432604	10399451	C C	CCATCACC others(845): Show CCATCACCATCATCACCACCATCACCACCGCCACCACCACCACCATCACC ACCACCACCACCACCACCATCACCACCGCCACCACCACCACCATCACCAC CACCACCACCACCATCACCACCACCACCACCACCATCACCATCACCACCA TCACCACCACCATCACCACCACCACCATCACCACCGCCACCACCACCACC ATCACCACCACCACCACCACCATCACCACCACCACCACCACCATCACCAT CACCACCACCACCACCACCATCACCACCACCACCACCACCACCATCATCA CCACCACCACCACCATCACCATCACCACCACCACCACCACCATCACCACC ACCACCACCATCACCACCACCATCATCACCACCATCACCACCACCATCAT CACCACCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACCACCATCACCACCACCATCATCAC CACCATCACCACCACCACCATCACCACCATCACCACCGCCACCACCACCA CCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCACCACC ATCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCACCA CCATCACCACCGCCACCACCACCACCATCACCACCACCACCACCATCACC ACCACCATCATCACCACCACCACCACCATCGCCGCCACCACCACCACCAC CAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	291	0.0034	852	c.-25 others(869): Show c.-25+2533_-25+2534insTCACCATCATCACCACCATCACCACCGC CACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCGCCA CCACCACCACCATCACCACCACCACCACCACCATCACCACCACCACCACC ACCATCACCATCACCACCATCACCACCACCATCACCACCACCACCATCAC CACCGCCACCACCACCACCATCACCACCACCACCACCACCATCACCACCA CCACCACCACCATCACCATCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCATCATCACCACCACCACCACCATCACCATCACCACCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCATCATCACCA CCATCACCACCACCATCATCACCACCATCACCACCGCCACCACCACCACC ATCACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCACCATCATCACCACCATCACCACCACCACCATCACCACCATC ACCACCGCCACCACCACCACCATCACCACCGCCACCACCACCACCATCAC CACCACCACCACCACCACCATCACCACCACCACCACCATCACCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCATCACCACCGCCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCATCATCACCACCACCACCACCATCG CCGCCACCACCACCACCACCATCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
HRAS_chr11_527242_540576	530718	G G	GAGAAGGG others(845): Show GAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCC CCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGACAGAAGGGGG AGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTG GAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGT CCCCTGGACAGAAGGGCCAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTG TGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGACAGAAGGG GGAGTGTGGCGTCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGC GTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAG TGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGAAG GGGGAGTGTGGCGTCCCCTGGAGAGAAGGGCCAGTGTGGCGTCCCCTGGA CAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCC CCTGGACAGAAGGGGGAGTGTGGCGTCCCCTGGACAGAAGGGGGAGTGTG GCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTGGAGAGAAGGGGG AGTGTGGCGTCCCCTGGAGAGAAGGGGGAGTGTGGCGTCCCCTGGAGAGA AGGGGGTGTGTGGCGTCCCCTGGAGAGAAGGGCGAGTGTGGCGTCCCCTG GAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG02109.hp1 HG02451.hp1 others(7): Show HG01074.hp2 HG02109.hp1 HG02451.hp1 HG02572.hp2 HG02809.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0023 a0001c0002t0001g0003 a0001c0002t0001g0023	10	388	0.0258	852	c.18 others(863): Show c.1809_*1810insGTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACACCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT CTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCAC ACTCCCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGA CGCCACACTCGCCCTTCTGTCCAGGGGACGCCACACTGGCCCTTCTCTCC AGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTT CTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACACTC CCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCC ACACTCGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTGGCCC TTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCACAC TGGCCCTTCTGTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACG CCACACTCCCCCTTCTCTCCAGGGGACGCCACACTCGCCCTTCTCTCCAG GGGACGCCACACTCGCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCT GTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGACGCCACACTCGC CCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTCTCCAGGGGACGCCAC ACTCCCCCTTCTCTCCAGGGGACGCCACACTCCCCCTTCTGTCCAGGGGA CGCCACACTCCCCCTTCT	HRAS	ENSG00000174775.18	transcript	ENST00000311189.8	protein_coding		1523		chr11	TogoVar
ICA1_chr7_8108184_8267167	8152669	C C	CATTATCT others(845): Show CATTATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTCCT CCACCATCACCACCACCACCACAACCACCATCTCCTTCATCACCACTACC CCCACCACTATCACCATCACCATCACCTCCACCACCACCACCATCTCCTT CAACACCACTACCCCCACCACTACCACCATCACCTCTTCCACCACTACCA CCATCTCCTCCACCACCACTACCACCACCACCACCATCTCCTTCACCACC ACTACCCCCAGCACTACCACCATCACCTCTTCCACCACTACCACCATCTC CTCCACCACCACTACCACCACCACCACCATTATCTCCTTCATCACCACTA CCCCCACCACTACCACCATCACCTCCTCCACCATCACCACCACCACCACA ACCACCATCTCCTTCATCACCACTACCCCCACCACTACCACCATCACCTC TTCCACCACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCA TCTCCTTCACCACCACTACCCCCAGCACTACCACCATCACCTCTTCCACC ACTACCACCATCTCCTCCACCACCACTACCACCACCACCACCATTATCTC CTTCATCACCACTACCCCCACCACTACCACCATCACCTCCTCCACCATCA CCACCACCACCACAACCACCATCTCCTTCATCACCACTACCCCCACCACT ACCACCATCACCTCTTCCACCACTACCACCATCTCCTCCACCACCACTAC CACCACCACCACCATCTCCTTCACCACCACTACCCCCAGCACTACCACCA TCACCTCCTCCACCACTACCACCATCTCCTCCACCACCACCACCACCACC ACA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	198	0.0051	852	c.804 others(869): Show c.804+4446_804+4447insTGTGGTGGTGGTGGTGGTGGTGGAGGAG ATGGTGGTAGTGGTGGAGGAGGTGATGGTGGTAGTGCTGGGGGTAGTGGT GGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGG TAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAG GAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGT AGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGTGGTGGTGGTGGTAG TGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTG CTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTGGTGGTAGTGGTGGT GGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGTGGTAGTGGTGGGGG TAGTGGTGATGAAGGAGATGGTGGTTGTGGTGGTGGTGGTGATGGTGGAG GAGGTGATGGTGGTAGTGGTGGGGGTAGTGGTGATGAAGGAGATAATGGT GGTGGTGGTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGG TGATGGTGGTAGTGCTGGGGGTAGTGGTGGTGAAGGAGATGGTGGTGGTG GTGGTAGTGGTGGTGGAGGAGATGGTGGTAGTGGTGGAAGAGGTGATGGT GGTAGTGGTGGGGGTAGTGGTGTTGAAGGAGATGGTGGTGGTGGTGGAGG TGATGGTGATGGTGATAGTGGTGGGGGTAGTGGTGATGAAGGAGATGGTG GTTGTGGTGGTGGTGGTGATGGTGGAGGAGGTGATGGTGGTAGTGGTGGG GGTAGTGGTGATGAAGGAGATAAT	ICA1	ENSG00000003147.19	transcript	ENST00000402384.8	protein_coding	8/13			chr7	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(845): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGA TGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGAT GGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATG GATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGT TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTT GGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGA TGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0017 a0001c0001t0019g0017	1	89	0.0112	852	c.666 others(869): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCC ATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAA CCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATC CATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFFO2_chr1_18899280_18961676	18925857	T T	TTGGATGG others(845): Show TTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGG ATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATGGATGGATG GATGGATGGTTGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGGTGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTT GGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGG ATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGT TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGAT GGA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0027 a0001c0001t0008g0027	1	89	0.0112	852	c.666 others(869): Show c.666-4737_666-4736insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCAACCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCAACCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATC CACCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCAT CCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCAACCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCAACCATCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCAACCAATCCATCCATCCA TCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATC CATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
JAKMIP3_chr10_132060946_132189858	132173149	T T	TCTCTCTC others(845): Show TCTCTCTCTCCCCCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCT CCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCCTCCCCCTCTGTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTCTCCCCTCCCCCCTC TCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCATCCCCTCCCCCCTCTCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCATCCGCCTCCCCCCTCTC CCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCC TCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCTCCCCATCCCCCTCCC CCCTCCCCCTCCCCCTCTCTCCCCCCTCCCCTCCCCCCTCCCCCTCCCGT CCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCC CTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCC TTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCT CCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTT CCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCT TCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCT TCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCCT TCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0042 a0002c0004t0004g0042	1	144	0.0069	852	c.11 others(873): Show c.1103+4125_*1103+4126insCCCCTCCCCCCTCCTTCCCTCTCT CTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCCTCCTTCC CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCCC TCCCCCTCTGTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCC TCTCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCAT CCCCTCCCCCCTCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCCAT CCGCCTCCCCCCTCTCCCCCTCCCCCATCCCCCTCCCCTCCCCCCTCTCC CCCTCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCTC TCCCCATCCCCCTCCCCCCTCCCCCTCCCCCTCTCTCCCCCCTCCCCTCC CCCCTCCCCCTCCCGTCCCCCTCTCCCCCTCCCCCCTCTCTCTCCCCCTC CCCCCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCTCCCCCTCCTTC CCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCCCCTCCTTC CCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCT CTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCTTCCCTCTC TCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCCCCCTCCTTCCCCCTGTC TCTCTCTCCCCCTCCTTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTC TCTCTCTCCCCCTCCTTCCCTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JUND_chr19_18274694_18286622	18284526	T T	TAATAATA others(845): Show TAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCGTGCGCG ATGGCTCACTCCTATAATCCCAGCACTTTGGGAGTCCAAAGCGGGTGGAT CATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAACCCTGT CTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGCCTGTAG TCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCCGGGAGG CGGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCTGGGCAA AAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATAC AAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAG CCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCC TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	406	0.0025	852	c.-30 others(863): Show c.-3043_-3042insGTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCACGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTATTATT GAGACGGATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCT TGGCTCACTGTAGCCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCA GCCTCCCAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAAT TTTTGAATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTC TTGATCTCCTGACCTCATGATCCACCCGCTTTGGACTCCCAAAGTGCTGG GATTATAGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATT ATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2905		chr19	TogoVar
JUND_chr19_18274694_18286622	18284529	T T	TAATAATA others(845): Show TAATAATAATAATAATAATAATAATAATAATAATAATAAAGACCTGGCCG TGCGCGATGGCTCACTCCTATAATCCCAGCACTTTGGGAATCCAAAGCGG GTGGATCATGAGGTCAGGAGATCAAGACCATCCTGGCCAACATGGTGAAA CCCTGTCTCTACTAAAAATTCAAAAATTAGCTGGGCGTGGTGGCGAATGC CTGTAGTCCCTGCTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAGCCC GGGAGGCAGAGGCTACAGTGAGCCAAGATTACGCCACTGCACTGCAGCCT GGGCAAAAGAGTAAGAATCCGTCTCAATAATAATAATAATAATAATAATG ATAGGCCGGGCGCGGTGGCTCTCGCCTGTAATCCCAGCCCTTTGGGAGGC TGAGGCGGGCGGATCACCTGAGGTCGAGCGTTCGAGACCAGCTTGGCCAG CATGGTGAAACCCCGTCTCCACTACAAATACAAAAATTAGCCAGGTGTGG TGGTGCATGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCAGAAGAATC GCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCGCCAGAGG TTGCGGTGAGCCAAGATCGCGCCATTGCACTCCAGCCTGGGCAACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAACCCGTCTCTACTAAAAATAC AAAATGAGCCAGGCATGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATCGGTTGAACCCAGGAATTGGAGGTTGCGGTGAG CCGAGATTGCACCATTGCACTCCAGCCTGGGCAACGAGCGAAACTCTGCC TAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18991.hp2 NA18953.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	2	397	0.0050	852	c.-30 others(863): Show c.-3046_-3045insTTAGGCAGAGTTTCGCTCGTTGCCCAGGCTGGAG TGCAATGGTGCAATCTCGGCTCACCGCAACCTCCAATTCCTGGGTTCAAC CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCATGCGCC ACCATGCCTGGCTCATTTTGTATTTTTAGTAGAGACGGGTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTTGGCTCACCGCAACCTCTGGCGCGATCTTGGCTCACTGCAACCT CTGCCTCCCGGGTTCAAGCGATTCTTCTGCCTCAGCTTCCTGAGTAGCTG GGATTACAGGCATGCACCACCACACCTGGCTAATTTTTGTATTTGTAGTG GAGACGGGGTTTCACCATGCTGGCCAAGCTGGTCTCGAACGCTCGACCTC AGGTGATCCGCCCGCCTCAGCCTCCCAAAGGGCTGGGATTACAGGCGAGA GCCACCGCGCCCGGCCTATCATTATTATTATTATTATTATTATTGAGACG GATTCTTACTCTTTTGCCCAGGCTGCAGTGCAGTGGCGTAATCTTGGCTC ACTGTAGCCTCTGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCC CAAGTAGCAGGGACTACAGGCATTCGCCACCACGCCCAGCTAATTTTTGA ATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGATGGTCTTGATC TCCTGACCTCATGATCCACCCGCTTTGGATTCCCAAAGTGCTGGGATTAT AGGAGTGAGCCATCGCGCACGGCCAGGTCTTTATTATTATTATTATTATT ATTATTATTATTATTATT	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2908		chr19	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(845): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18990.hp2 NA18983.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0304 a0001c0001t0001g0300 a0001c0001t0001g0304	2	6	0.3333	852	c.-41 others(867): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(845): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCACCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	5	0.2000	852	c.-41 others(867): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCACCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(845): Show CGCCCCCACAGCCGCCCCCCCCACAGCTGCCCCCCCCACAGCCGCCCCCC TCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCACA GCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCCC ACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCCG CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCC CACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTC CCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAGC CGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCACA GCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCAC CCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGCC GCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCACA GCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp2 HG01258.hp2 others(6): Show HG00099.hp2 HG00673.hp2 HG01258.hp2 NA18940.hp1 NA18952.hp1 NA18959.hp1 NA18971.hp2 NA18994.hp1 NA19010.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0212 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0057 a0001c0001t0001g0212 a0001c0001t0001g0284 a0001c0001t0001g0303 a0003c0006t0001g0005 a0003c0006t0001g0041 a0003c0006t0001g0070 a0003c0006t0001g0181	9	13	0.6923	852	c.-41 others(867): Show c.-41+629_-41+630insCCCACAGCTGCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCACCCCCC CACAGCCGCCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCACCCCCCACAGCCACCCCCCACAGCC GCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCC CCACAGCCACCCCCACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCT CCCCACAGCCGCCCCCACAGCCGCCCCCCCACAGCCGCCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCACAG CCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCCCAC AGCCGCCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCA CCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCCCACAGC CGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCCCCCCAC AGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
KRT82_chr12_52388931_52411335	52409027	C C	CCTCTCCC others(845): Show CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT CCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTC CTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTC CCTCTCCCTCTCCTTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCC TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCC CTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCACTCTC CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	4	0.2500	852	c.-27 others(863): Show c.-2751_-2750insAGGGAGAGTGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAG GGAGAAGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGG AGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGG GAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAG GAGGGAGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGA GAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGA GGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGA GAGGAGGGAGAGGGAGAG	KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding		2693		chr12	TogoVar
LARS1_chr5_146108034_146187650	146174593	T T	TATATATC others(845): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATATCCATATATATATATATCCATATATATATATA TCCATATATATATATCCATATATATATATCCATATATATATATATCCATA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATATCCATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATATCCATATATATATCCATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATATCCATATA TATATATCCATATATATATATCCATATATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATCCATATA TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATCCATATATATATATATCCATATATATATCCATATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TCCATATATATATATATCCATATATATATATCCATATATATATATATCCA TATATATATATCCATATATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATATCCATATATATATATA TCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	207	0.0048	852	c.126 others(869): Show c.126-1820_126-1819insGGATATATATATATATGGATATATATAT ATATGGATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATATGGATATAT ATATATGGATATATATATATATGGATATATATATGGATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATGGATATAT ATATATATGGATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATATATATATGGATATATATATATGGATAT ATATATATATGGATATATATATGGATATATATATATGGATATATATATAT ATGGATATATATATATGGATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATGGATATATATATATATGGATATATATATATGGATATATATATATGGAT ATATATATATATGGATATATATATATGGATATATATATATGGATATATAT ATATGGATATATATATATATGGATATATATATGGATATATATATATATAT GGATATATATATATGGATATATATATATATGGATATATATATATATGGAT ATATATATATATGGATATATATATATATGGATATATATATATATGGATAT ATATATATGGATATATATATATGGATATATATATATATGGATATATATAT ATATGGATATATATATATATGGATATATATATATATGGATATATATATAT GGATATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LHFPL3_chr7_104323603_104913561	104824253	A A	ATATTATA others(845): Show ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATAATATATATATTAT ATATTATATATTATATATATAATATATATATTATATATTATATATTATAT ATATAATATATATATTATATATTATATATTATATATATAATATATATATT ATATATTATATATTATATATATTATATATATATTATATATTATATAATAT ATATATTATATATTATATATATTATATTATATATTATATATATAATATAT TATATTATATATATTATATAATATATTATATATTATATATATATTATATA ATATATTATATATAATTATATATATTTTATATATTATATATTATATATTA TATATTATATATTATATTATATATAATTATATATATTTTATATATTATAT ATTATATATTATATATTATATATTATATATATTATATATTATATATTATA TATTATATATATTATATATTAATATATTATATATACAATTATATATATTA TATATATTATATATTATATATATTATATTATATAATATATTATATATATA ATATATATTATATATTATATATTATATAATATATTATATATATAATATAT ATTATATATTATATATTATATAATATATTATATATATAATATATATTATA TATTATATATTATATAATATATTATATATATAATATATATTATATATTAT ATATTATATAATATATTATATATATAATATATATTATATAATATATATTA TATATATATTATATATATAATATATATTATTATATAATATATATTATATA AAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	67	0.0149	852	c.683 others(871): Show c.683-81934_683-81933insTATTATATATTATATATTATATATAT AATATATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATAATATATATATTATATATTATATATTATATATATAATATAT ATATTATATATTATATATTATATATATAATATATATATTATATATTATAT ATTATATATATAATATATATATTATATATTATATATTATATATATTATAT ATATATTATATATTATATAATATATATATTATATATTATATATATTATAT TATATATTATATATATAATATATTATATTATATATATTATATAATATATT ATATATTATATATATATTATATAATATATTATATATAATTATATATATTT TATATATTATATATTATATATTATATATTATATATTATATTATATATAAT TATATATATTTTATATATTATATATTATATATTATATATTATATATTATA TATATTATATATTATATATTATATATTATATATATTATATATTAATATAT TATATATACAATTATATATATTATATATATTATATATTATATATATTATA TTATATAATATATTATATATATAATATATATTATATATTATATATTATAT AATATATTATATATATAATATATATTATATATTATATATTATATAATATA TTATATATATAATATATATTATATATTATATATTATATAATATATTATAT ATATAATATATATTATATATTATATATTATATAATATATTATATATATAA TATATATTATATAATATATATTATATATATATTATATATATAATATATAT TATTATATAATATATATTATATAAAT	LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2			chr7	TogoVar
LINGO2_chr9_27932617_29218601	28189533	G G	GAGGAAGG others(845): Show GAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAA GGGAGGAAGGAAGGGATGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGG AAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAA GGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAA GGGAGGGAGGAAGGAAGGGAGGGAGGAAGGGAGGGAGGAAGGGAGGGAGG AAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGGA GGAAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGGA GGGAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGA GGAAGAAAGGAAGGGAGGGAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGG GAGGGAGGGAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGGAAGGAAGGAA GGAAGGGAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGGAGG GAGGAAGGAAGGAAGGGAGGAAGGAAGGGAGGCAGGGAGGAAGGAAGGGA GGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAACGGAGGGAGGGAGG AAGGAAGGAAGGGAGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAA GGA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0056 a0001c0001t0009g0056	1	36	0.0278	852	c.-36 others(873): Show c.-36+105674_-36+105675insTCCTTCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTCCGTTCCTTC CTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTGCCT CCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTTCCT TCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTC CTTCCTCCCTCCCTCCCTTCCTTTCTTCCTCCCTCCCTTCCTTCCTTCCT TCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCC CTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCT TCCTTCCTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCC CTTCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCT CCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTTCCTTCCTCCCT CCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCC CTCCCTCCCTTCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCT TCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTCCCTCCCTCCCTCCCTTC CTTCCTCCCTCCATCCCTTCCTTCCTCCCTTCCTTCCTTCCTCCCTCCCT TCCTTCCTTCCTCCCTCCCTTCCTTCCT	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	6/6			chr9	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(845): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATG TATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	348	0.0029	852	c.-29 others(863): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA CTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256766	T T	TATAGTCA others(845): Show TATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAA ACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTA TATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATA GTTATATGTATATAAAACTATAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATA AAACTATATACAGTCATATATGTATATAAAACTATACAGTCATATATGTA TATAAAACTATATATAGTCATATATGTATATAAAACTATATATAGTCATA TATGTATATAAAACTATATATAGTCATATATGTATATAAAACTATAGTCA TATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATATAGT TATATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTA TATATGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATAGTTATGTATGTAAAACTATAGTTATATATGTA TGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACAGTTATG TATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACA GTTATGTATGTATGTAAAACTATACACAGTTATGTATGTATGTAAAACTA TAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0001 a0003c0003t0001g0001	1	348	0.0029	852	c.-29 others(863): Show c.-2991_-2990insATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATAT ATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAA CTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATGTAT ATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATATGTAT ATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATAT ATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAG TCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTAT ACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATAAAA CTATATATAGTCATATATGTATATAAAACTATATATAGTCATATATGTAT ATAAAACTATAGTCATATATGTATATAAAACTATATAGTCATATATGTAT ATAAAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTAT ATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATATGTATGT AAAACTATAGTTATATATGTATGTAAAACTATAGTTATGTATGTAAAACT ATAGTTATATATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAA CTATATACAGTTATGTATGTATGTAAAACTATACACAGTTATGTATGTAT GTAAAACTATACACAGTTATGTATGTATGTAAAACTATACACAGTTATGT ATGTATGTAAAACTATAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2920		chr1	TogoVar
MAP3K15_chrX_19355059_19520508	19478126	G G	GGGGGAGA others(845): Show GGGGGAGAGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGGGAGAGGGGGG AGAGGGGGAGGGGGGAGGGGAGAGGGGGAGAGGGGGAGAGGGGGGAGAGA GGTGGGGGGGAGAGGGGGGAGAGAGGTGGGGGGAGAGGGGGGAGAGAGGT GGGGGAGAGGGGGGGAGAGAGGTGGGGGAGAGGGGGGAGAGAGGGGGGAG GGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGAGAGAGGGGGGAGGGGGGA GAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGG GGGAGAGAGGGGGGGAGGGGGGAGAGAGGGGGGGAGGGGGGAGAGAGGGG GGGAGGGGGGAGAGAGGGGGGAGGGGGGGGAGAGAGGGGGGAGGGAGGAG AGGGGGGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGGGAGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGG GGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGG AGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGG GGGGAGGGGGGGGGGGAGGGGGGAGAGGGGGGAGAGGGGGGAGAGGGGGG AGAGGGGGGGAGAGGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGGGAGAG GGGGAGGGGGGAGAGGGGGAGGGGGAGAGGGGGGGAGAGAGGGGGAGAGA GGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGAGAGGGGGGAG AGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0002 a0008c0018t0002	a0008c0018t0002g0026 a0008c0018t0002g0026	1	158	0.0063	852	c.525 others(869): Show c.525+8355_525+8356insTCTCTCCCCCCTCTCCCCCTCCCCCCTC TCTCCCCCTCCCCCCTCTCTCCCCCTCTCTCCCCCTCTCTCCCCCCCTCT CCCCCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCCTCCCCCTCTCCCCC CTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCC CCCCTCCCCCCCTCTCCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCCT CTCCCCCCTCCCCCCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCC TCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTC CCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCCCCC CTCTCCTCCCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCTCTCCCCC CCCTCCCCCCTCTCTCCCCCCTCCCCCCCTCTCTCCCCCCTCCCCCCCTC TCTCCCCCCTCCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCC CCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCTC TCTCCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCTCTCCCCCCTCTCCC CCACCTCTCTCCCCCCCTCTCCCCCACCTCTCTCCCCCCTCTCCCCCCAC CTCTCTCCCCCCTCTCCCCCCCACCTCTCTCCCCCCTCTCCCCCTCTCCC CCTCTCCCCTCCCCCCTCCCCCTCTCCCCCCTCTCCCCCCCTCTCCCCCC TCTCCCCCCTCTCCCCCTCTCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(845): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGG AAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGG TGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGA AAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGA AGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGAGGGGGAGGGAGGGGGGAGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGAGGGGGAGGGGAGGGGAG GGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGGA GGGAGGGAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGGGAGGGGAGGAGTGGGAGGGGGAGGGGGAGGGAGGGG AGGGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGG GAGGGGGAGGGGAGGGAAGAGAGGGAGGGGGAGAGGGAGGGAAGGGGGGA GAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGA GTGGAGGGGGAGGGGGAGGGAGGAGGGATGGAGTGGAGGGGGAGGGGGAG GGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAAGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGAGGG TGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0037 a0001c0001t0012g0037	1	8	0.1250	852	c.250 others(867): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCATCCCT CCTCCCTCCCCCTCCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTC CCTCCCTTCCCTCCCCCTCCCTCTCCCCCCTTCCCTCCCTCTCCCCCTCC CTCTCTTCCCTCCCCTCCCCCTCCCTCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCCTCCCCCTCCCACT CCTCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCTCCCTCCCTCCCCCCTCCCCTCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTCCCC CCTCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCTTCCCC CCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCC TTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCT TTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCCGCCCCTT TTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCCTGCCCCTCCCCTTCT CCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(845): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCCTCCGCCCGCCTTACCCACTACTGGGTCCC TCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCCTCCCTTACCCAC TACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTG GGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTAC CCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCC CTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGT CCCTCCGCCCGCCTTACCCACTACTGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTC CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTAC TGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACT	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	202	0.0050	852	c.148 others(871): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGT AGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGG CGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGCGGGCGGAGGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGT AAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCA GTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGG AGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGT GGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGGCGGAGGG ACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCG GGCGGAGGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667532	C C	CTACTGGG others(845): Show CTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTC CTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCGCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCG CCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGG TCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCC ACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCC TCCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTC CCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACT ACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCT TACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCC GCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACT GGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTA CCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGC CCGCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGG TCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCC ACT	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	202	0.0050	852	c.148 others(871): Show c.1480-2783_1480-2782insAGTGGGTAAGGCGGGCGGAGGGACCC AGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGC GGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTA AGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGA GGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAG GCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAG TGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGA CCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGG CGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGG TAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACC CAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCG GAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAA GGAGGGCGGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGC GGGCGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTAGTG GGTAAGGAGGGCGGAGGGACCCAGTA	NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27			chr7	TogoVar
NOTCH1_chr9_136489433_136551048	136528393	G G	GGGGGGTG others(845): Show GGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCAGGGACGGTGCGGGGG GGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTGAGGGGGGG ATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGC AGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGAC AGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGG ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGG ACCGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTG GGGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGA TGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCA AGGACAGTGGGGCGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAG TGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGGGACGGTG AGGGGGGGATGGGCAGGGACGGTGAGGGGGATGGGCAGGGACAGTGGGGG GTGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCA GGGACAGTGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGGGGGGTGGGCAGGGACAGTGGGGGGCGATGGGCAGGGACAGTGGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGGATG GGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGTGGGCAGGGACA GTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	139	0.0072	852	c.141 others(869): Show c.141-4415_141-4414insTACTGTCCCTGCCCACCCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAT CCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCATCGCCC CCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTGT CCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCC TCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTC ACCGTCCCTGCCCATCCCCCCCGCACTGTCCCTGCCCATCCCCCCCACTG TCCCTGCCCATCGCCCCACTGTCCTTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCTTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCCCAC TGTCCCTGCCCATCCCCCCCACGGTCCCTGCCCATCCCCCACTGTCCCTG CCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACCCC CCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTC CCTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCC CATCCCCCTCACTGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCATC CCCCCCTCACCGTCCCTGCCCATCCCCCCCGCACCGTCCCTGCCCATCCC CCCCCACTGTCCCTGCCCACCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PLEKHG4B_chr5_87168_194966	165461	C C	CTAATGCT others(845): Show CTAATGCTGTGACGGGGCGGGGCTCACACTAATGCTGTGACAGGGGTCGG AGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCACA GTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTGTGACAGGGGGCGGGGCTCACAGTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACT AATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGAGCT CACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGG GCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGGGCTCACACTAA CGCTCTGATGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACACACTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCA CAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0069 a0001c0007t0069	a0001c0007t0069g0150 a0001c0007t0069g0150	1	189	0.0053	852	c.347 others(871): Show c.3476+1920_3476+1921insGTGACGGGGCGGGGCTCACACTAATG CTGTGACAGGGGTCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGG AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACA GGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGAGCTCACACTAATGCTGTGACAGGGGGCGGGGCTCA CAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGG GGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCT CTGACGGGGCGGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAG CTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGG GCGGGGCTCACACTAACGCTCTGATGGGGCGGAGCTCACACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGT AATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCT CACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGC GGAGCTCACACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGT GACGGGGCGGGGCTCACAGTAATGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PNPLA7_chr9_137454952_137555402	137502703	C C	CGGGGGGG others(845): Show CGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGG GGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCGGGGG GACGGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGGAC GCGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGCG GGGGGACGGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGGGGGG GGACGCGGGGGGACGGGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGG CGCGGGGGGCACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGC GGGGGACGCGGGGGGCGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGG GACGCGGGGGGACGCGGGGGGACGCGGGGGGACGCGGGGGACGGGGGGGA CGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGACGCGG GGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGAC GGGGGGGACGGGGGGGACGCGGGGGACGCGGGGGACGGGGGGGGCGGGGG GGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACG CGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGG GACGGGGGGGACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGGAC GGGGGGGACGGGGGGGACGCGGGGGGGACGGGGGGGACGGGGGGGACGCG GGGGACGCGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGA CGG	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0144 a0001c0002t0001g0144	1	81	0.0123	852	c.147 others(869): Show c.1474-977_1474-976insCCGTCCCCCGCGTCCCCCCCGTCCCCCG CGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCC CCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCCCG TCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCCCCCCGTCCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGCCCCCCCCGTCCCCCGCGT CCCCCGCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCC CCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCC GCGTCCCCCCGCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTCCCCCCC GTCCCCCCCGCCCCCCGCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCC CCCCGTCCCCCCCGTGCCCCCCGCGCCCCCCGCGTCCCCCGCGTCCCCCC CGTCCCCCCCCGTCCCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCCCCCG TCCCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCCCGTC CCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCCCGTCCCCCGCGTCCCC CCCGTCCCCCCCGTCCCCCCCCGTCCCCCCGCGTCCCCCCGCGTCCCCCC CGTCCCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCCGTCCCCCCCGTC CCCCCCGTCCCCCGCGTCCCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PPP6R2_chr22_50338327_50450090	50397738	A A	AGCATGAC others(845): Show AGCATGACTTGGGATGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGG GGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGT GACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCT GAGCTTTTCTCTGAGGAGCATGACTTGGGATGCTGGGGGGCAGGGGGCCT GTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTGACTT GGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCT TTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCGGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGA GGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGT CATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCGGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCT GAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 NA18959.hp2 NA19000.hp1 HG00408.hp1 NA18959.hp2 NA19000.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0006 a0002c0004t0004 a0001c0001t0006 a0002c0004t0004	a0001c0001t0006g0204 a0002c0004t0004g0212 a0002c0004t0004g0217 a0001c0001t0006g0204 a0002c0004t0004g0212 a0002c0004t0004g0217	3	212	0.0142	852	c.227 others(869): Show c.227+3604_227+3605insCATGACTTGGGATGCTGGGGGGCAGGGG GCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTTTTCTCTGAGGAGTGTG ACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGA TGCTGGGGGGCAGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGTTT TTCTCTGAGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACC AGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGG GCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAG GAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCTTGTC ATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGG CCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAG CTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCA CCAGCCTTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGG GGGCAGGGGGCCTGTCCTCACCAGCCTTGTCATCTCTGAGCTTTTCTCTG AGGAGTGTGACTTGGGATGGGGGCGGGGGGGCCTGTCCTCACCAGCCCTG TCATCTCTGAGTTTTTCTCTGAGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar

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