Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
NXN_chr17_794310_984776	841437	A A	AGCAGGTC others(762): Show AGCAGGTCCTCCCGACCATGGAGCATCTCACACCCGCGAGCAGGTCCTCC CGACCACGGCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGC ATCTCACACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACGCCG GAGAGCAGGTCCCCCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTC CCCCCGACCACGGCGCATCTCACACCCACGGGCAGGTCCTCCCGACCACG GCGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACA CCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACGCCGGAGAGCAG GTCCCCCCTGACCACAGCGCATCTCACACGGGCGAGCAGGTCCACCCTGA CCACAGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCAT CTCACACCCGCGAGCAGGTCCTCCCGACCATGGAGCATCTCACGCCGGCG AGCAGGTCCCCCCTGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCC CCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCCCCCTGACCACGGC GCATCTCATGCCGGCGAGCAGGTCCCCCCTGACCATGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGT CCCCCCGACCACGGCGCATCTCACACCCACAGGCAGGTCCCCCCGACCAC GGCGCATCTCACACCCACAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0235 a0001c0004t0001g0235	1	242	0.0041	769	c.361 others(788): Show c.361-15360_361-15359insCTGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCCTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGC CTGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGA GATGCGCCATGGTCAGGGGGGACCTGCTCGCCGGCATGAGATGCGCCGTG GTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGAC CTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGG CGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGC CGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCTGTGGTCAGGG TGGACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTC TCCGGCGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAG ATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGT CGGGAGGACCTGCCCGTGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTG CTCGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTGCTCTCCGGCGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCGGGTGTGAGATGCTCCA TGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGAGGA CCTGCTCGCGGGTGTGAGATGCTCCATGGTCGGGAGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952834	C C	CAGACCAA others(762): Show CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACG GTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGC AGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAA GGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG GTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACT GTGGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCA CGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGGAA CCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACA GACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGG GCTGGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGT CACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCA GGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAGAGACCAAG GTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAG TCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTG TGGGGGGGCTGGGGTCAGAG	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA18906.hp1 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0063 a0001c0001t0025g0200 a0001c0001t0001g0063 a0001c0001t0025g0200	2	242	0.0083	769	c.360 others(788): Show c.360+26484_360+26485insCTCTGACCCCAGCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAG CCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGT CTCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGG GTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTG ACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAA CCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCGTGGTAC CTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTG ACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGC CCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTC TCTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGG TTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCCACAGTGTGACCGTCCG TGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCAC AGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(762): Show CACACCACACACACCATACACACATACACACCACACACATACACACTCCA CACACACCACACATATATCACACACACCACATACACACTCCACACACACC ACACATACATCACACACACCATACACCACACACACACCACACACTACACA CCACACCCACCCACGCATACCACACATATCCCCTTACATACCACACACAT CCCCTACACACACGCCACATACACACACCATACACATCCCCCACAGACAC ACATACCCCTACATACCACACACATCCCCTACACACATGCCATACACACA CCATACACATCCCCCACAGACACACATACACACCACACACATACACAAAC ACTGCACACATACACACCCCACACATACAACACACACGACACACCACACA ACCATACAGACACAAACACATACACCACACACACCACATACACAACAAAC ATGCCACACACAAATACCACACACACCACATACACACACCCCCCATTCAC CACACACCACATACACACCATTCACACTACACATACACTCCACACACACA CCACATACACACCATACACACCACACATATCTCCACACACACACCACATA CATACACATCCCATCCACACCACACACCCACACACACACACTCCAAACTC CACACACACTCCAAACACCACACAAATACACCTACACACACATCACACAC CCACACCACACACACACCACACAAACATGCCACACACATACCCCACACCA TACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03195.hp1 HG01891.hp2 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0017 a0001c0007t0003g0017	2	316	0.0063	769	c.201 others(786): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGGATGGGATGTGTATGTATGTGGT GTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTGTGTG TGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGAATGG GGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTTGTTG TGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTGTGGT GTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGTGCAGTGTTTGTGT ATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTA TGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGGGGTATGTGTGTCTGT GGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGTGTAGGGGATGTGTGT GGTATGTAAGGGGATATGTGTGGTATGCGTGGGTGGGTGTGGTGTGTAGT GTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATGTATGTGTGGTGTGTG TGGAGTGTGTATGTGGTGTGTGTGATATATGTGTGGTGTGTGTGGAGTGT GTATGTGTGTGGTGTGTATGTGTGTATGGTGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
OSGIN1_chr16_83948240_83971332	83951890	T T	TCCCTCCC others(762): Show TCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCCCCTCCCTCCT TCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCCCTCCTTCCCTCCTTC CTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCC CTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCCCTCCGTCCCTTCCTC CTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCACCCTCCTTCCCTCCC TCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCTTCCTCCCTCCCTCCC TACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCCTTCCCTCCCTCCCTG CCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCC TCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTCCTCCCTCCCTCCTTC CCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCC TCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTA CCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCC TCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTG CTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCC TCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTC CCTACCTCCTTCCTTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0165 a0001c0003t0002g0165	1	350	0.0029	769	c.-15 others(780): Show c.-1513_-1512insCCCTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCC CTCCCCCTCCCTCCTTCCCTCCCTGCCTTCCTCCCCCTTTCCCTCCCTCC CTCCTTCCCTCCTTCCTCCCTTCCTCCTTCCCTCCCTCCTCCCTTCCTCC TTCCCTCCCTCCTCCCTTCCTCCTTCCCTCCCTCCTCCTTTCCTCCTCCC CTCCGTCCCTTCCTCCTTCCCTCCCTCCCTCCTTCCCTCCCTGCCTTCCA CCCTCCTTCCCTCCCTCCTCCCTTCCTCCCTCCTTCCCTCCGTCCTCCCT TCCTCCCTCCCTCCCTACTTCCCTCCCTCCCTGCCTTCCTCCCTCCTTCC TTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTT CCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTTC CTCCCTCCCTCCTTCCCTCCCTCCCTGCCTCCCTCCTTCCCTCCCTACCT CCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCC CTCCTTCCCTCCCTACCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTT TCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTCC CTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCCCTCCCTCCTTCCCTCCCT ACCTCCTTCCTTCCCTCCCTCCTTCCCTCCCTGCTTTCCTCCCTCCTTCC CTCCCTCCTTCCCTCCCTACCTCCTTCCTTCCCTC	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		1349		chr16	TogoVar
RAB40B_chr17_82649973_82703698	82672068	A A	ACACTCAC others(762): Show ACACTCACACGCTCCCTGTACTCACTGACACACCCCACCCCTGTAACTCT AACACACACTCACATGCTCCCTGTACCCACTGACACAGCTCACCCCGTAA CTCTAACACACACACTCACACCCTGTACTCACTGACACACCCCACCCCGT CACTCTAAAACACACACACTCACACACCCTGTACCCACTGACACACCTCA CCCCTGTAACTCAAACCACACACACACCCTGTACTCACTGACACACCCCA CCCCTGTAACTCTAACACACACACTCACATGCTCCCTGTACTCACTGACA CAGCTCACCCCTGTAACTCTAACACACACACTCACACGCTCCCTGTACTC ACTGACACACCCCACCCCTGTAACTCTAACACACACTCACATGCTCCCTG TACTCACTGACACACCCCACCCCGTAACTCTAACACACACACTCACACGC TCCCTGTACTCACTGACACACCCCACCCCTGTAACTCTAACACACACTCA CATGCTCCCTGTACCCACTGACACAGCTCACCCCGTAACTCTAACACACA CACTCACACCCTGTACTCACTGACACACCCCACCCCGTCACTCTAAAACA CACACACTCACACACCCTGTACCCACTGACACACCTCACCCCTGTAACTC AAACCACACACACACCCTGTACTCACTGACACACCCCACCCCTGTAACTC TAACACACACACTCACATGCTCCCTGTACTCACTGACACAGCTCACCCCT GTAACTCTAACACACACACT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0319 a0001c0001t0002g0319	1	338	0.0030	769	c.143 others(786): Show c.143-7513_143-7512insAGTGTGTGTGTTAGAGTTACAGGGGTGA GCTGTGTCAGTGAGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACA GGGGTGGGGTGTGTCAGTGAGTACAGGGTGTGTGTGTGGTTTGAGTTACA GGGGTGAGGTGTGTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAG AGTGACGGGGTGGGGTGTGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTT AGAGTTACGGGGTGAGCTGTGTCAGTGGGTACAGGGAGCATGTGAGTGTG TGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGA GTGTGTGTGTTAGAGTTACGGGGTGGGGTGTGTCAGTGAGTACAGGGAGC ATGTGAGTGTGTGTTAGAGTTACAGGGGTGGGGTGTGTCAGTGAGTACAG GGAGCGTGTGAGTGTGTGTGTTAGAGTTACAGGGGTGAGCTGTGTCAGTG AGTACAGGGAGCATGTGAGTGTGTGTGTTAGAGTTACAGGGGTGGGGTGT GTCAGTGAGTACAGGGTGTGTGTGTGGTTTGAGTTACAGGGGTGAGGTGT GTCAGTGGGTACAGGGTGTGTGAGTGTGTGTGTTTTAGAGTGACGGGGTG GGGTGTGTCAGTGAGTACAGGGTGTGAGTGTGTGTGTTAGAGTTACGGGG TGAGCTGTGTCAGTGGGTACAGGGAGCATGTGAGTGTGTGTTAGAGTTAC AGGGGTGGGGTGTGTCAGTGAGTACAGGGAGCGTGTGAGTG	RAB40B	ENSG00000141542.11	transcript	ENST00000571995.6	protein_coding	1/5			chr17	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(762): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGAGAAAGGAAGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGAAGGGAGAAAGGAAGAGGGGAGGAGGAGGAAGAAAG GAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	350	0.0029	769	c.624 others(784): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTTCCT CCTCCTCCCCTCTTCCTTTCTCCCTTCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCTTCCTTTCTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMIM36_chr17_55444856_55516452	55501189	T T	TATATTAT others(762): Show TATATTATATATTATAATATATAATATATTATATATTATAATATATAATA TATTATATTTTATAATATATAATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATATA TTATATTTTATAATATGTAATATATATTATATTTTATAATATATAATATA TATTATATATTATAATATATAATATATATTATATATTATAATATATAATA TATATTACATATTATAATATATAATATATATTATATATTATAATATATAA TATATATTACATATTATAATATATAATATATTATATTTTATAATATATAT AAAATATAATATATTATATTTTATAAAATATAATATATTATATTTTATAA TATATAATATATTATATTTTATAATATATAATATATTATATTTTATAATA TATAATATATTATATATTATAAAATATAATATATTATATATTATAAAATA TAATATCTTATATATTATAAAATATAATATATTATATATTATAAAATATA ATATATTTTATAATATATAATATATTATATTTTATATTATATAAGATATT ATATTTTATAATATATAATATATTATATTTTATAATATATAATATATTAT ATTTTATAATATATAATATATTATATTTTATAATATATAATATATTATAT TTTATAATATATAATATATTATATTTTATAATATATAATATATTATATTT TATATATATTATAAAATATA	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0106 a0001c0001t0007g0106	1	340	0.0029	769	c.17 others(788): Show c.174+9689_*174+9690insTATATTTTATAATATATATAAAATAT AATATATTATATATTATAAAATATAATATATTATATATTATAAAATATAA TATATTATATATTATAAAATATAATATATTATATATTATAAAATATAATA TATTATATATTATAAAATATAATATATTATATATTATAAAATATAATATC TTATATAATATAAAATATAATATATTATATATTATAAAATATATTATATT TTATAATATATAATATATTATATTTTATAATATATAAGATATTATATTTT ATAATATATAATATATTATATTTTATAATATATAATATATTATATATTAT AAAATATAATATATTATATATTATAAAATATAATATATTATATATTATAA AATATAATATATTATATTTTATAAAATATAATATATTATATTTTATATAT ATTATAAAATATAATATATTATATATTATAATATGTAATATATATTATAT ATTATAATATATAATATATATTATATATTATAATATGTAATATATATTAT ATATTATAATATATAATATATATTATATATTATAATATATAATATATATT ATATATTATAAAATATAATATATATTACATATTATAAAATATAATATATT ATATATTATAAAATATAATATATATTACATATTATAAAATATAATATATT ATATATTATAAAATATAATATATTATATATTATAAAATATAATATATTAT ATATTATAATATATAATATATTATATATTATAATATATAATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SRXN1_chr20_641615_658200	641973	G G	GGGGGGGC others(762): Show GGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGG GTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCAGGGGT GGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG GGCCCAGTGGGGGTGGAGTTGCCTGGTGGGGGGAGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGG CCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGC CTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGAGGCCCA GCGGGGGTGGAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCC TGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0021 a0001c0001t0007g0021	1	422	0.0024	769	c.67 others(780): Show c.6740_*6741insAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCAC CCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC ACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCC CGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCC GCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCACCAGGCAACTCCACCCCCACTGGGCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCTGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCCCCCAGGCAACTCC ACCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCC CCCCCCAGGCAACTCCACCCCCGCTGGGGCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4641		chr20	TogoVar
TBC1D22A_chr22_46757650_47180693	46859655	T T	TGTGCCCC others(762): Show TGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTCCGCGCAGT GCGGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCAG TGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGCA GTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGCGC AGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCGCG CAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGTCCGC GCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGTCCG CGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAGGT CCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGG TCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGAG GTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTTTTTGATAG AGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATA GAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCTTTTCCAT AGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTG ATAGAGGTCCGCGCAGTGCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	112	0.0089	769	c.638 others(788): Show c.638-18983_638-18982insACCAGAATCCTTTTTTGATAGAGGTC CGCGCAGTGCGGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGGT CCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAGG TCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAGAG GTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATAGA GGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCCATAG AGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCGATA GAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTTTGA TAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTCG ATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTTC CATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATCCTTTT CGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCTGGGACCAGAATCCTTT TTTGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCCT TTTCGATAGAGGTCCGCGCAGTGCTGTGCCCCTTCCCGGGACCAGAATCC TTTTCCATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGGACCAGAATC CTTTTTTGATAGAGGTCCGCGCAGTGCCGTGCCCCTTCCCGGG	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TECPR1_chr7_98209624_98257232	98242990	C C	CCACCCAC others(762): Show CCACCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC GCACACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACA TATACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACC CATCCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCA TCCATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATC CATCTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCC ACACATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCAC CCATCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCC ATCCATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCT TCCATCCATCCACACATATACCCACCTATCCATCTACCCATGCACCCACC CACCCACCCACTCACCCATCCACACACCCACCCACACACCCATCCATCCA CACAAACACCCACCCATCCATCCATCCACCCATCCATCCATCCATCTGCC CACACACCCACCCATCCACCCATCCATCCACACACCCACCTATCCATCCT TCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACCTATCC ATCCTTCTGCCCACACACCACCCATCCACCCATCCATCCACACACCCACC TATCCATCCTTCTGCCCACA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0220 a0002c0002t0013g0220	1	346	0.0029	769	c.657 others(784): Show c.657+476_657+477insTGTGGGCAGAAGGATGGATAGGTGGGTGTG TGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATAGGTGG GTGTGTGGATGGATGGGTGGATGGGTGGTGTGTGGGCAGAAGGATGGATA GGTGGGTGTGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGA TGGATGGATGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATG GGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGGGTGGGTGGGTGGGTGCA TGGGTAGATGGATAGGTGGGTATATGTGTGGATGGATGGAAGGTGTGTGC AGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGTGTGG GTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGATGGGT GTGTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGAATGG AAGGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTATGGA TGGGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTGGGTG GGTGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAGTGAG TGGGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTGGATG GATGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGGTGGGTG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
THEG_chr19_356747_381026	377137	C C	CCCCACCC others(762): Show CCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCCTGT GCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTGCCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTC CCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTC TCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCC TCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCC AGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGC CCCCACCCAGCCTCTCCCCCCCCGTGCCCCCACCCAGCCTCTCCCCCTCT GTGCCCCACCCAGCCTCTCCCCCCCCTGTGCCCCCACCCAGCCTCTCCCC CCCCGTGCCCCCACCCAGCCTCTCCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAG CCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCTCCCCCCGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0079 a0001c0001t0014g0079	1	370	0.0027	769	c.-11 others(780): Show c.-1168_-1167insCACGGGGGGAGAGAGGCTGGGTGGGGGCACAGAG GGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGGAGAGGCTGGGTGGGGGCACGGGGGGGGAGAGGCTGGG TGGGGGCACAGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGC TGGGTGGGGGCACGGGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAG AGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACGG GGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGG GTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGC TGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGG CTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1112		chr19	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(762): Show ACACACACCACACACCCCACACACACCACACAAACCACACACCCTACACA CCCCACACACACCACACACACACATCACATACCACACACACATCACATAC CACACACAAACCACACACCACACACACACCACACACCCCACACACACATC ACATACCACACACAAACCACACACCCAACACACACATCACACACCACACA CCCCACACACACATCACATACCACACACAAACCACACACCCTACACACAC CACACACCCCACACACACATCACACACCACACACACCACACACACCCCAC ACACACCACACACACACATCACATACCACACACCCGACACACGCCACACA CACACCACACACCCCACGCACACATCACATACCACACACAAACCACACAC CCTACACACACCACACACCCCACACACACCACACACACACACCACACACA CATCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCC ACACACACCACACACCCCACACACACACCACACACCCCACACACACATCA CATACCACACACAAACCACACACCCCACACACCCCACACACCACACACAC ACCACACACACATCACATACCACACACAAACCACACACCCTACACGCACC ACACACCCCACACACACCACACACCCGACACACGCCACACACACACCACA CACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACAC CCCACACACCCCACACACAC	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	338	0.0030	769	c.35 others(788): Show c.35+22439_*35+22440insCACACAAACCACACACCCTACACACC CCACACACACCACACACACACATCACATACCACACACACATCACATACCA CACACAAACCACACACCACACACACACCACACACCCCACACACACATCAC ATACCACACACAAACCACACACCCAACACACACATCACACACCACACACC CCACACACACATCACATACCACACACAAACCACACACCCTACACACACCA CACACCCCACACACACATCACACACCACACACACCACACACACCCCACAC ACACCACACACACACATCACATACCACACACCCGACACACGCCACACACA CACCACACACCCCACGCACACATCACATACCACACACAAACCACACACCC TACACACACCACACACCCCACACACACCACACACACACACCACACACACA TCACATACCACACACAAACCACACACCCCCACACACCCCACACACCCCAC ACACACCACACACCCCACACACACACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCACACACCCCACACACCACACACACAC CACACACACATCACATACCACACACAAACCACACACCCTACACGCACCAC ACACCCCACACACACCACACACCCGACACACGCCACACACACACCACACA CCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACCC CACACACCCCACACACACCACACACCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
ULK1_chr12_131889622_131928150	131917084	G G	GGAGGCTG others(762): Show GGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGG GGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTTGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGCTCGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGCTC GGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGT GGGATGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGG GGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGG CTGTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGA TGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTG GAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGT GGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGG GTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGAC GGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCG GAGGCTGTGGGATGGGGCTC	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0004 a0002c0011t0004	a0002c0011t0004g0020 a0002c0011t0004g0020	1	344	0.0029	769	c.218 others(784): Show c.2182+34_2182+35insCGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGT GGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGG GTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGG CTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGGTTGGAGGCTGTGGGAT GGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCG AGGCTGTGGGATGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTG GGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGG CTCGAGGCTGTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATG GGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGG AGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGG GATGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGG TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCT GTGGGACGGGGGTTGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATG GGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGA	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(762): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCC TTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTCCTCCTTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	246	0.0041	769	c.-10 others(786): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCT TCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCC CTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTT TCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTT CCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCC CTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAAGG others(762): Show GGGAAAGGAAGGGAGGGGAGGGAGGGAGGGAGAAAAGGGAAGTGAGAGGA AGGAGGGAGGAGGAAAGGGAAGGGAGAGGAGGGAGGGAGTGAGGGAAGGG AAGGGAGGGGAGGGAGGTAGGCAGGGAAGGGAGGGGAGGGAGGGAGGGGA GGGAGGGGAGGGAGGGAAGGGGAGGGAGTGGAGGGAAGGGGAGGGAGGGG AGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGG GAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGA GAGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGAG GGAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGA GGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGG GGAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGG GAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAG GGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGT GAGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGAG GGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGG GAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATG GAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0208 a0001c0001t0003g0208	1	290	0.0035	769	c.205 others(788): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCTT CCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTCC CTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCC TCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCC CTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCAC TTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCT TCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCCT CCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTCCCTC CCTCCCCTCACTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCC CTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTC CCTCCCCTTCCCTCCACTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCT CCCTCCCTCCCCTCCCTTCCCTGCCTACCTCCCTCCCCTCCCTTCCCTTC CCTCACTCCCTCCCTCCTCTCCCTTCCCTTTCCTCCTCCCTCCTTCCTCT CACTTCCCTTTTCTCCCTCCCTCCCTCCCCTCCCTTCCTTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(762): Show GTATATATACATGTATATATATACAAGTATATATACATGTATATATATAC AAGTATATATATATACTTGTATATATATATACAAGTATATATATATACTT GTATACATATATACTATATATATACGTATATACACGTATATACGTATATA TATGTATATATACGTATATACATGTATATATACGTATATACATGTATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATACGTATATATACACATATATACATGTATATATATACGTATA TATACACATATATACATGTATATATATACGTATATATACACATATATACA TGTATATATATACGTATATATACACATATATACATGTATATATATACGTA TATATACACATATATACATGCGTATATATATACGTATGTATATATGTATA TATACGTATATACATGTATATATATATACGTATATATACATATATACGTA TATATATATACGTATATATACATATATATACATGTATATATATGTGTGTA TATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03492.hp1 HG03491.hp1 HG03492.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0049 a0002c0002t0003g0049	2	383	0.0052	769	c.-42 others(780): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA CATGTATATATATACAAGTATATATATATACTTGTATATATATATACAAG TATATATATATACTTGTATACATATATACTATATATATACGTATATACAC GTATATACGTATATATATGTATATATACGTATATACATGTATATATACGT ATATACATGTATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATACGTATATATACACATATATACATGT ATATATATACGTATATATACACATATATACATGTATATATATACGTATAT ATACACATATATACATGTATATATATACGTATATATACACATATATACAT GTATATATATACGTATATATACACATATATACATGCGTATATATATACGT ATGTATATATGTATATATACGTATATACATGTATATATATATACGTATAT ATACATATATACGTATATATATATACGTATATATACATATATATACATGT ATATATATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(762): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATATAT ATATACAAGTATATATATATACTTGTATACATATATACTATATATATACG TATATACACGTATATACGTATATATATGTATATATACGTATATACATGTA TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACATGTATATATATACGTATATATA CACATATATACATGTATATATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATACATGTATATA TACACATATATACATGCGTATATATATACGTATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATACGTATATATACACATA TATACATGTATATATATACGTATATATACACATATATACATGTATATATA TACGTATATATACACATATATACATGTATATATACGTATATATACACATA TATACATGTATATATACATGTATATATACACATATATACATGCGTATATA TATACGTATGTATATATGTATATATACGTATATACATGTATATATATACG TATATATACATATATACGTATATATATATACGTATATATACATATATACG TATATATATACGTATATATACATATATATACATGTATATATATGTGTGTA TATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01123.hp1 NA18955.hp1 HG00323.hp1 HG01123.hp1 NA18955.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0022 a0002c0002t0003g0256 a0002c0002t0003g0022 a0002c0002t0003g0256	3	383	0.0078	769	c.-42 others(780): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATATATATATACAAGTATATATATATACTTGTATACATATA TACTATATATATACGTATATACACGTATATACGTATATATATGTATATAT ACGTATATACATGTATATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACATGTATAT ATATACGTATATATACACATATATACATGTATATATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATACATGTATATATACACATATATACATGCGTATATATATACGTATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAC GTATATATACACATATATACATGTATATATATACGTATATATACACATAT ATACATGTATATATATACGTATATATACACATATATACATGTATATATAC GTATATATACACATATATACATGTATATATACATGTATATATACACATAT ATACATGCGTATATATATACGTATGTATATATGTATATATACGTATATAC ATGTATATATATACGTATATATACATATATACGTATATATATATACGTAT ATATACATATATACGTATATATATACGTATATATACATATATATACATGT ATATATATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ZNF85_chr19_20918251_20955697	20919169	G G	GTATATAT others(762): Show GTATATATACATGTATATATATACAAGTATATATATATACTTGTATATAT ATATACAAGTATATATATATACTTGTATACATATATACTATATATATACG TATATACACGTATATACGTATATATATGTATATATACGTATATACATGTA TATATACGTATATACATGTATATACGTATATATACACATATATACATGTA TATATACGTATATATACACATATATACATGTATATATATACGTATATATA CACATATATACATGTATATATATACGTATATATACACATATATACATGTA TATATATACGTATATATACACATATATACATGTATATATACATGTATATA TACACATATATACATGCGTATATATATACGTATATATACATGTATATATA TACGTATATATACACATATATACGTATATATACGTATATATACACATATA TACATGTATATATATACGTATATATACACATATATACATGTATATATATA CGTATATATACACATATATACATGTATATATACGTATATATACACATATA TACATGTATATATACATGTATATATACACATATATACATGCGTATATATA TACGTATGTATATATGTATATATACGTATATACATGTATATATATACGTA TATATACATATATACGTATATATATATACGTATATATACATATATACGTA TATATATATACGTATATATACATATATATACATGTATATATATGTGTGTA TATATATACGTATATATACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0257 a0002c0002t0003g0257	1	383	0.0026	769	c.-42 others(780): Show c.-4232_-4231insTATATATACATGTATATATATACAAGTATATATA TATACTTGTATATATATATACAAGTATATATATATACTTGTATACATATA TACTATATATATACGTATATACACGTATATACGTATATATATGTATATAT ACGTATATACATGTATATATACGTATATACATGTATATACGTATATATAC ACATATATACATGTATATATACGTATATATACACATATATACATGTATAT ATATACGTATATATACACATATATACATGTATATATATACGTATATATAC ACATATATACATGTATATATATACGTATATATACACATATATACATGTAT ATATACATGTATATATACACATATATACATGCGTATATATATACGTATAT ATACATGTATATATATACGTATATATACACATATATACGTATATATACGT ATATATACACATATATACATGTATATATATACGTATATATACACATATAT ACATGTATATATATACGTATATATACACATATATACATGTATATATACGT ATATATACACATATATACATGTATATATACATGTATATATACACATATAT ACATGCGTATATATATACGTATGTATATATGTATATATACGTATATACAT GTATATATATACGTATATATACATATATACGTATATATATATACGTATAT ATACATATATACGTATATATATATACGTATATATACATATATATACATGT ATATATATGTGTGTATATATATACGTATATATACA	ZNF85	ENSG00000105750.15	transcript	ENST00000328178.13	protein_coding		4081		chr19	TogoVar
ABCC4_chr13_95014835_95306451	95025395	A A	ACACACAC others(763): Show ACACACACACATACCCCCACCACACACCCACACACCCCCTCACACACACA CCCACACCCACCACACACCCCCACCACACACCCACATACACCCACACCCC CACCACACACCCATACACACACCCCCACATACTAATACACACACACTCCC ACACCCTCCCACCCCCCCACACCCCCACCACACCAATACACACCCACACA CCCCCTCACACACACACCCACACACCCATACACACACCCACCACACACCC ATACATACACACCCCCACACCCCCTCACACCCTTCCCCCACTCACCCATA CACAACCCCCACCACACCCCCACACCCATACACACACACCCCCACCACAC CCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCACACACCCA TACACACCCCCCCACCACACCCCCACACCCATACACACACACCCCCACCA CACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCTCACCC ATACACAACCCCCACCACACCCCCACACCCATACACACACACACCCCCAC CACACCCATACACACACCCCTGCACCCCCTCACACACCCTCCCCCCACTC ACCCATACACAACCCCCACCACACCCCCACCACACCCATACACACACACC CGTACCCCCTCACACCCTCCCCCCACACACCTATCCCCACCACACACCCA TACACACACACCCACACACACACCACACCCATACACACACATACCCCCAC ACCCCCACACACACCCTCCCT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0023 a0001c0009t0023	a0001c0009t0023g0034 a0001c0009t0023g0034	1	248	0.0040	770	c.387 others(789): Show c.3871-3714_3871-3713insAGGGAGGGTGTGTGTGGGGGTGTGGG GGTATGTGTGTGTATGGGTGTGGTGTGTGTGTGGGTGTGTGTGTATGGGT GTGTGGTGGGGATAGGTGTGTGGGGGGAGGGTGTGAGGGGGTACGGGTGT GTGTGTATGGGTGTGGTGGGGGTGTGGTGGGGGTTGTGTATGGGTGAGTG GGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTGGG GGTGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGGGTG AGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTGGTG GGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGGGTGTGTATGGGT GTGTGGGGGGAGGGTGTGTGAGGGGGTGCAGGGGTGTGTGTATGGGTGTG GTGGGGGTGTGTGTGTATGGGTGTGGGGGTGTGGTGGGGGTTGTGTATGG GTGAGTGGGGGAAGGGTGTGAGGGGGTGTGGGGGTGTGTATGTATGGGTG TGTGGTGGGTGTGTGTATGGGTGTGTGGGTGTGTGTGTGAGGGGGTGTGT GGGTGTGTATTGGTGTGGTGGGGGTGTGGGGGGGTGGGAGGGTGTGGGAG TGTGTGTGTATTAGTATGTGGGGGTGTGTGTATGGGTGTGTGGTGGGGGT GTGGGTGTATGTGGGTGTGTGGTGGGGGTGTGTGGTGGGTGTGGGTGTGT GTGTGAGGGGGTGTGTGGGTGTGTGGTGGGGGTATGTGTGTGTG	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	30/30			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(763): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCC TTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTT CCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTTC CTTCCTTTCTTCCCCGTCCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCT CCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTT CCTTCTTTTCCTTCCTTCACTCCCTCCCTCCCTCCCTCCCTCCCTCCCTC CCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTT CCTTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCC CCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCT TCCTTCACTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCC TTCCCCTCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCT CCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCTTCCCTTCCTTCTTTTCCT TCCTTCACTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCC TTCCCCTCCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0143 a0002c0002t0003g0143	1	262	0.0038	770	c.106 others(789): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAA AAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAA AAGAAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGG GGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAG AAGGAAGGGAAGGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGG AAGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA AGGAAAAGAAGGAAGGGAAGGGGAGGGGACGGGGAAGAAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGAGGGGAAGGG GAAGAAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAAGGAAG GAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AGXT_chr2_240863824_240885500	240872327	G G	GAGGAGGG others(763): Show GAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCG TGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGTGAGAGTTCGTGAA CATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGG TGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAG GAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGG AGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACAT GCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAG TTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGTAGGCGGAG GAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTGTGAGAGTTCGTGA ACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGAGG GTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGTTCGTGAACATGCA GGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTC GTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAG GATGAGAGTTCGTGAACATGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(96): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01943.hp1 HG01981.hp1 HG02004.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02683.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03834.hp2 HG06807.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp2 NA18963.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp2 NA18982.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19068.hp2 NA19070.hp1 NA19081.hp1 NA19083.hp2 NA19086.hp2 NA19091.hp1 NA19240.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0013 a0014 others(3): Show a0001 a0013 a0014 a0017 a0018 a0019	a0001c0001 a0001c0025 a0013c0020 others(4): Show a0001c0001 a0001c0025 a0013c0020 a0014c0017 a0017c0021 a0018c0018 a0019c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024 a0001c0001t0029 a0001c0025t0028 a0013c0020t0002 a0014c0017t0002 a0017c0021t0008 a0018c0018t0020 a0019c0026t0002	a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0002g0002 others(35): Show a0001c0001t0001g0036 a0001c0001t0001g0061 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0003g0058 a0001c0001t0003g0065 a0001c0001t0004g0064 a0001c0001t0008g0019 a0001c0001t0008g0053 a0001c0001t0008g0125 a0001c0001t0008g0127 a0001c0001t0014g0037 a0001c0001t0018g0074 a0001c0001t0019g0002 a0001c0001t0021g0055 a0001c0001t0024g0021 a0001c0001t0029g0124 a0001c0025t0028g0112 a0013c0020t0002g0021 a0014c0017t0002g0072 a0017c0021t0008g0126 a0018c0018t0020g0007 a0019c0026t0002g0073	99	444	0.2230	770	c.525 others(785): Show c.525-646_525-645insGTGAGAGTTCGTGAACATGCAGGAGGAGGA GGGTGAGAGTTCGTGAACATGCAGGTGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGGAGGAGGAGGAGGGT GAGAGTTCGTGAACATGCAGGCGGAGGAGGGTGAGAGTTCGTGAACATGC AGGTGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTT CGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGGA GGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAAC ATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAG AGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGTGG AGGAGGGTGAGAGTTCGTGAACATGCAGGAGGAGGGTGAGAGTTCGTGAA CATGTAGGCGGAGGAGGGTGAGAGTTCGTGAACATGGAGGCGGAGGAGTG TGAGAGTTCGTGAACATGGAGGCGGAGGAGGGTGAGAGTTCGTGAACATG CAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGCAGGAGGGTGAGAGT TCGTGAACATGCAGGAGGAGGAGGGTGAGAGTTCGTGAACATGCAGGAGG AGGGTGAGAGTTCGTGAACATGGAGGAGGAGGGTGAGAGTTCGTGAACAT GGAGGCGGAGGAGGATGAGAGTTCGTGAACATGCAGGAGG	AGXT	ENSG00000172482.5	transcript	ENST00000307503.4	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
AZU1_chr19_822837_837018	835481	T T	TGCAGCCT others(763): Show TGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCC ACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGC CCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC AGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCC GTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACC CCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCC GTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCAGGCCCCGACGCG TGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCACCCCG CAGCCCCGTCCAGGCCCCGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	770	c.36 others(781): Show c.3604_*3605insGCAGCCTCCACCCCGCAGCCCCGTCCAGGCCCCG ACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAG CCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCA GAGCCAGCCCCGTCCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCTCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCC CCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCGGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCG GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACG CGTGCGGCCCCCACCCCGCAGCCCCGTCCGGGCCCCGACGCGTGCGGCCT CCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGT CCAGGCCCCGACGCGTGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCAGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGAC	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3464		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	82971659	A A	ACAGGGGC others(763): Show ACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCCAG AAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAGGACCCGG TACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAG GGGCCAGAAGGACCTGGTACTGACCACACCACACTCATAGGGGCCAGAAG GACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCCGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCAC ACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACTCATAGGGG CCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAGGACC CGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACC ACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCA CAGGGGCTAGAAGGACCTGGTGCCGACCACACCACACCATGGGCCAGAAG GACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCC GACACACCACACCAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCA GGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACGGGCCAGAAGGA CCTGGAGCCGACACACCACAC	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0045 a0001c0004t0001g0045	1	266	0.0038	770	c.460 others(787): Show c.460-5914_460-5913insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCCGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTGGTGTGGTGTGTCGGCACCA GGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTG GTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT ACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTT CTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTAT GAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGT GGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCG GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGG CCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGT GTGGTGTGGTCAGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCGGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCGGGTC CTTCTGGCCCCTATGAGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCC CTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971701	G G	GGGGCCAG others(763): Show GGGGCCAGAAGGACCCGGTACTGACCACACCACACCACAGGGGCCAGAAG GACCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACT GACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCAC ACCACAGGGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGC CAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCT GGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCA CACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCAC AGGGGCTAGAAGGACCTGGTGCCGACACACCACACCACAGGGGCCAGAAG GACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGAGCCGA CACACCACACCAGGGGCCAGAAGGACCTGGTGCCCACCACACCACACCAC AGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCTAGAA GGACCTGGTGCCGACCACACCACACCATGGGCCAGAAGGACCTGGTGCCG ACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTACTGACCACACCACACCACAGGGGCC AGAAGGACCTGGTGCCGGCCACACCACACCACAGGGGCTAGAAGGACCTG GTGCCGACCACACCACACCAC	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0175 a0002c0005t0003g0175	1	266	0.0038	770	c.460 others(787): Show c.460-5956_460-5955insGTGGTGTGGTGTGGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGCCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTAGC CCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGGCCCCTGTGGTGT GGTGTGGTGGGCACCAGGTCCTTCTGGCCCCTGGTGTGGTGTGTCGGCTC CAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGT GGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGG CACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCT TCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTG TGGTGTGGTGTGGTCGGCACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGT GGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCA GGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCTGG CCCCTGTGGTGTGGTGTGGTCAGTACCGGGTCCTTCTGGCCC	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971719	T T	TACTGACC others(763): Show TACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACA CCACACCACAGGGGCCACAAGGACCTGGTGCCGACCACACCACACCACAG GGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCG ACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTG GTGCCGACACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACA CCACACCATGGGCCAGAAGGACCTGGAGCCGACACACCACACCAGGGGCC AGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAAGGACCTG GTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCAC ACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGG CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACAC CACGGGCCAGAAGGACCTGGA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0188 a0001c0003t0020g0188	1	266	0.0038	770	c.460 others(787): Show c.460-5974_460-5973insTCCAGGTCCTTCTGGCCCGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGCCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT GGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGG TGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCG GCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTGGGCACCAGGTCCTTCTGGCCCCT GGTGTGGTGTGTCGGCTCCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTC GGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTG GCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTGTGGCCCCTGTGGT GTGGTGTGGTCGGCACCAGGTCCTTGTGGCCCCTGTGGTGTGGTGTGGTC AGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	82971719	T T	TACTGACC others(763): Show TACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTACTGACCACA CCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAG GGGCCACAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGG ACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCG ACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACA CCACAGGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCC AGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCTAGAAGGACCTG GTGCCGACACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGACCACA CCACACCATGGGCCAGAAGGACCTGGAGCCGACACACCACACCAGGGGCC AGAAGGACCTGGTGCCCACCACACCACACCACAGGGGCCAGAAGGACCTG GTACTGACCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCAC ACCACACCATGGGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGG GGCCAGAAGGACCTGGTGCCGACCACACCACACCACAGGGGCCAGAAGGA CCTGGTACTGACCACACCACACCACAGGGGCCAGAAGGACCTGGTGCCGG CCACACCACACCACAGGGGCTAGAAGGACCTGGTGCCGACCACACCACAC CACGGGCCAGAAGGACCTGGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0025 a0003c0025	a0003c0025t0011 a0003c0025t0011	a0003c0025t0011g0054 a0003c0025t0011g0054	1	266	0.0038	770	c.460 others(787): Show c.460-5974_460-5973insTCCAGGTCCTTCTGGCCCGTGGTGTGGT GTGGTCGGCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGCCGGCAC CAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCCTTCT GGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGG TGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTCG GCACCAGGTCCTTCTAGCCCCTGTGGTGTGGTGTGGTCAGTACCAGGTCC TTCTGGCCCCTGTGGTGTGGTGTGGTGGGCACCAGGTCCTTCTGGCCCCT GGTGTGGTGTGTCGGCTCCAGGTCCTTCTGGCCCATGGTGTGGTGTGGTC GGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGTCGGCACCAGGTCC TTCTAGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCT GTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTG TGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACC AGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTG GCCCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTGTGGCCCCTGTGGT GTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTC AGTACCAGGTCCTTCTGGCCCCTGTGGTGTGGTGTGGTCAGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BOK_chr2_241553745_241579131	241570689	G G	GTGGGGGT others(763): Show GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAAT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGCCTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTATGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAATGGCGGATGGGTGAGC CTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGT ACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGG AGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGT GAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAG AGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCTGTGGGGG TGGGAGAGCTGGGGTGCGAGGGTGCAGACGTACGGGAGGAATGGCGGATG GGTGAGCGTCTGAGCGCCTGT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	434	0.0023	770	c.513 others(785): Show c.513+401_513+402insTGGGGGTGGGAGAGCTGGGGTGCGAGGGTG CAGAGGTACGGGAGGGAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGG GGGTGGGAGAGCTGGGGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCG GATGGGTGAGTGTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAG GGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCTGAGCGCCT GTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGT GGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTG CGAGGGTGCAGAGGTATGGGAGGGAGTGGCGGATGGGTGAGCCTCTGAGC GCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGGGAGG GAATGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAGCTGG GGTGCGAGGGTACAGACGTACGGGAGGGAGTGGCGGATGGGTGAGTGTCT GAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGAGGTACGG GAGGGAGTGGCGGATGGGTGAGCCTCTGAGCGCCTGTGGGGGTGGGAGAG CTGGGGTGCGAGGGTGCAGAGGTACGGGAGGGAGTGGCGGATGGGTGAGT GTCTGAGCGCCTGTGGGGGTGGGAGAGCTGGGGTGCGAGGGTGCAGACGT ACGGGAGGAATGGCGGATGGGTGAGCGTCTGAGCGCCTGT	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	4/4			chr2	TogoVar
CCDC88C_chr14_91266323_91422820	91293482	T T	TCACCTTC others(763): Show TCACCTTCCCATCCTCACCCGCCACAGCTCACTTTCCCATCCTCACGTGC CACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTC ACCCGCCAGAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCC ATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCAC CTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACA GCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCC GCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCC TCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTC CCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTC ACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCCGCCA CAGCTCACCTTCCCATCCTCACCTGCCACAGCTGACCTTCCTGTCCCCTC ACCTGCCACGGCCCACCTTCCTGTCCCCTCACCTGCCACGGCCTACCTTC CTGCCCCCTCGCCTGCCACGGCCCACCTTCCTGCCCCCTCGCCTGCCACG GCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTTCCTGCCCCCTC GCCTGCCACAGCTCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCT GTCCCCTCACCTGCCACGGCC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	284	0.0035	770	c.411 others(787): Show c.4112+690_4112+691insGGCCGTGGCAGGTGAGGGGACAGGAAGG TGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCAGGCGAGGGGG CAGGAAGGTGGGCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCCGTGGCA GGCGAGGGGGCAGGAAGGTGGGCCGTGGCAGGCGAGGGGGCAGGAAGGTA GGCCGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAGGTGAGGGGA CAGGAAGGTCAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGTGGCGGG TGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTGT GGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG AGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGG AAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAG GATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCG GGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCT GTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGG TGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTCTGGCGGGTGAGGATG GGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTG AGGATGGGAAAGTGAGCTGTGGCGGGTGAGGATGGGAAGGTG	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(763): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCATATCCGCACAGCGGCCACATTTACCATGGATGGCGTATC CGCACAGCGGCCACATTCACCATGGATGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGG CCACATTCACCATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCATATC CGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACA TTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAG CCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGG GGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	238	0.0042	770	c.635 others(787): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATATGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGTGCGGATACGC CATCCATGGTAAATGTGGCCGCTGTGCGGATATGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
CSGALNACT1_chr8_19399161_19762277	19461746	C C	CCACATTC others(763): Show CCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATC CGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGGCCACA TTCACCATGGGGGGCGTATCCGCACAGCGGCCACATTCACCATGGATGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCGG CCACATTCACCATGGATGGCGTATCCGCACAGCGGCCACATTCACCATGG GGGGCGTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCAC AGCGGCCACATTCACCGTGGGGGGCGTATCCGCACAGCGGCCACATTCAC CGTGGGGGGCGTATCCGCACAGCGGCCACATTCACCGTGGGGGGCGTATC CGCACAGCGGCCACATTTACCATGGATGGCGTATCCGCACAGCAGCCACA TTCACCATGGGGGGCGTATCCGCACAGCACACACATTCACCATGGAGGGC GTATCCGCACAGCGGCCACATTCACCATGGGGGGCGTATCCGCACAGCAG CCACATTCACCATGGATGGCGTATCTGCACAGCAGCCACATTCACCATGG GGGGCGTATCCACACAGCACA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0102	1	238	0.0042	770	c.635 others(787): Show c.635-3105_635-3104insTGTGCTGTGTGGATACGCCCCCCATGGT GAATGTGGCTGCTGTGCAGATACGCCATCCATGGTGAATGTGGCTGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCTCC ATGGTGAATGTGTGTGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCT GCTGTGCGGATACGCCATCCATGGTAAATGTGGCCGCTGTGCGGATACGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCATCCATGGTGAATGTGGCCGCTGT GCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGCCATCC ATGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTGGCC GCTGTGCGGATACGCCCCCCATGGTGAATGTGGCCGCTGTGCGGATACGC CCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCACGGTGAATG TGGCCGCTGTGCGGATACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGA TACGCCCCCCACGGTGAATGTGGCCGCTGTGCGGATACGCCCCCCATGGT GAATGTGGCCGCTGTGCGGATACGCCCCCCATGGTGAATGTG	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	3/8			chr8	TogoVar
DIP2C_chr10_269201_694668	516522	G G	GAGGGGGG others(763): Show GAGGGGGGGAAGGGGCGAAGGGGAAGGGGGTAAGGTGGACAGTGGGACAG GGGAAGGGGGTAAGGGGGGGACAGGGGGTAGGGTGGGAGGGGGGGACGGG GTAGGGTGGGAGGGGGGGACGGGGTAGGGTGGGGGGGGACAGGGGGTAGG GTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGGTGGG GGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGG ACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGG GGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACAGGGGGTAGG GTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGGTGGG GGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGG ACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGG GGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGG GTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGGTGGG GGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGG GACAGGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACG GGGTAGGGTGGGGGGGGACAGGGGGTAGGGTGGGGGGGGACAGGGGGTAG GGTGGGGGGGGACAGGGGGTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0059 a0001c0002t0003g0059	1	88	0.0114	770	c.86- others(787): Show c.86-29993_86-29992insTACCCCCTGTCCCCCCCCACCCTACCCC CTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCGTGTCC CCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCC CACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCCACCC TACCCCCTGTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCC CGTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTC CCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCC CACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCCACCC TACCCCCTGTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCC CCTGTCCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTC CCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCC CACCCTACCCCCTGTCCCCCCCCACCCTACCCCCTGTCCCCCCCCCACCC TACCCCCTGTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCC CCTGTCCCCCCCCACCCTACCCCGTCCCCCCCTCCCACCCTACCCCGTCC CCCCCTCCCACCCTACCCCCTGTCCCCCCCTTACCCCCTTCCCCTGTCCC ACTGTCCACCTTACCCCCTTCCCCTTCGCCCCTTCCCCCCCT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	1024472	G G	GAGGCAGA others(763): Show GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGT GGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTG GGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCT CCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCC ACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGC CACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCA GCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACA CCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGC AGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCC GAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCC GTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACA GTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGT GGACAGTCCCGTGCCGAGGCAGACACTCCAGCCGCCACCCACCCTCCCTG GGGGTGGACAGTCCCGTGCCA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	770	c.73+ others(789): Show c.73+116507_73+116508insGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCC GCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCC CAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGA CACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAG GCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTG CCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTC CCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGGGTGGA CAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCCTGGGG GTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACCCTCCC TGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCACCCACC CTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCCGCCAC CCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACCCCAGCC GCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCGAGGCAGACACTC CAGCCGCCACCCACCCTCCCTGGGGGTGGACAGTCCCGTGCCAA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXOC3L4_chr14_103089725_103115559	103109326	T T	TCCCTCCC others(763): Show TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTTCCTC TCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCC CATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC TCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCC ACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCC CTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCT CCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCC CTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGC CCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCA CCCTGCCCCCATGTCTCCCTC	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0003 a0012c0015t0003	a0012c0015t0003g0163 a0012c0015t0003g0163	1	404	0.0025	770	c.197 others(787): Show c.1977-703_1977-702insCTCCCTCCCTCTCCACCCTGCCCCCATG TCTCCCTCCTCCCTTCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCC TCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCC TGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTC CCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCC TCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCC CCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCT CCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCT CCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCA TGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCCT CCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCAC CCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGT CTCCCTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCCTCCCTCCCTCTCCACCCT GCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCC CTCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCC	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FAM81A_chr15_59433186_59528555	59433245	C C	CAGGCGTT others(763): Show CAGGCGTTCAGGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTA AAAATTACAAAAATTAGCCAGGTGTGGTGGCACGCGCCTATAATCCCAGC TACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAACCTGGGAGGTGGAGAT TACAGTGAGCCAAGATTGCACCATTGCACTCCAGCCTGAGCAACAAGAGC AAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGAAATTGATGCAAAA CATCCATGATTAATAAAAAATGAAAATTTTCAATAAGGACAGGGTCAGTA TTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTTGCTATGGCACTGTAT ACCACAACCTCGTGTGATGGGTATTGTCATTTCTTTTTTGTTGTTGAACA GAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGAACAACTGTCTGATAA TGTATTACTTGACAAAGAAGCCAAAACAAGAGTGTCAGCTTATGTGAGGT TTCATTGTCTAAACTGTGGTGTCATGACTGGCTAATGTAAGGTAGGCCAT GAATGTTTGCTGAACTAGATTGAACCGAGCCAAAGTGGTATCAAACTTCA GAACAGCCTGAAGACTATATATGTGTGTATTTTATATATATATATATATA TATATGTCTATTTCCTGAGAATTGTTGGAAAGAAGAATTGTTTCAAAATC AATGTGAAATAGAATTTTCCATTACTTTTCTTGCCTCTGAACTGGGTTTT GGATAAATCAGTTTTATTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG06807.hp2 HG02647.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0141 a0001c0002t0004g0015 a0001c0002t0003g0141 a0001c0002t0004g0015	2	374	0.0054	770	c.-51 others(781): Show c.-5115_-5114insAGGCGTTCAGGACCAGCCTGACCAACATGGTGAA ACCCTGACTCTACTAAAAATTACAAAAATTAGCCAGGTGTGGTGGCACGC GCCTATAATCCCAGCTACTCGGGAGGCTGAGGAAGGAGAATTTCTTGAAC CTGGGAGGTGGAGATTACAGTGAGCCAAGATTGCACCATTGCACTCCAGC CTGAGCAACAAGAGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAA GAAATTGATGCAAAACATCCATGATTAATAAAAAATGAAAATTTTCAATA AGGACAGGGTCAGTATTCCTAATTTTCTTTGCCTGGCTTCAATATGTCTT GCTATGGCACTGTATACCACAACCTCGTGTGATGGGTATTGTCATTTCTT TTTTGTTGTTGAACAGAAGTTCAAGTTGTCTTTTAATTCAACCTATGAGA ACAACTGTCTGATAATGTATTACTTGACAAAGAAGCCAAAACAAGAGTGT CAGCTTATGTGAGGTTTCATTGTCTAAACTGTGGTGTCATGACTGGCTAA TGTAAGGTAGGCCATGAATGTTTGCTGAACTAGATTGAACCGAGCCAAAG TGGTATCAAACTTCAGAACAGCCTGAAGACTATATATGTGTGTATTTTAT ATATATATATATATATATATGTCTATTTCCTGAGAATTGTTGGAAAGAAG AATTGTTTCAAAATCAATGTGAAATAGAATTTTCCATTACTTTTCTTGCC TCTGAACTGGGTTTTGGATAAATCAGTTTTATTATA	FAM81A	ENSG00000157470.12	transcript	ENST00000288228.10	protein_coding		4940		chr15	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(763): Show GGTGTGGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGG GTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGG GGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGG CAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGT GGAGGCTGGGTGAGGAGGCTGGTGGCAGCGGTGTGCATGGAGGCTGGGGT GAGGGGAGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0031 a0001c0001t0006g0031	1	418	0.0024	770	c.119 others(789): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATGCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCA CCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCT CCACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACA CCACTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCAC CAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCT CCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCAC CCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTC CTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCC AGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCC TCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAG CCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCA CACCGCTGCCACCAGCCTCCTCTTACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(763): Show GGTGTGGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGTGAGGGGAGGCTGGTGGCAGTGGTGTGG GTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCT GGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGCTGGGGTGGGG GGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGG CAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGG TGTGGATGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGT GGAGGCTGGGTGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGT GAGGGGAGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01981.hp2 HG01993.hp1 others(3): Show HG01952.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02148.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0004t0010	a0001c0001t0001g0160 a0001c0001t0002g0327 a0001c0001t0006g0032 others(3): Show a0001c0001t0001g0160 a0001c0001t0002g0327 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0009g0335 a0001c0004t0010g0048	6	418	0.0144	770	c.119 others(789): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCCA CCCCAGCCTCCACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCT CCACCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACA CCACTGCCACCAGCCTCCCCTCACCCAGCCTCCACCCACACCGCTGCCAC CAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCT CCCCCACCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCAC CCCAGCCTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTC CTCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCC AGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCC TCACCCCAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAG CCTCCATCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCA CACCGCTGCCACCAGCCTCCTCTTACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FLT3_chr13_27998274_28105576	27998945	T T	TTATATGC others(763): Show TTATATGCATATACATATATATTTATATGCATATAAATATATATTTATAT ACATATAAATATATATGTATATACATATAAATATATGTATATACATATAA ATATATATGTATATACATATAAATATATATGTATATACATATATATATGT ATATACATATATATATATGTATATACATATATATGTATATACATATATAT ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATACATATAAATATATATGTATATACATATAAATATATATGTATGTATAT TATATACATATAAATATATATGTATGTATATTATATACATATAAATATAT ATATTTATATACATATAAATATATATATTTATATACATATAAATATATAT ATTTATATACATATAAATATATATATTTATATACATATAAATATATATAT TTATATACATATAAATATATATATTTATATACATATAAATATATATTTAT ATACATATAAATATATATTTATATACATATAAATATATATTTATATACAT ATAAATATATATTTACATACATATAAATATATATTTACATACATATAAAT ATATACATTTATATACATATAAATATATACATATATACATATAAATATAT ATTTATATACATATAAATATATATATTTATATATATTTATATATATATAA ATATATATATATTTATATATATATAAATATATATATATTTATATATATAT AAATATATATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03516.hp1 HG03579.hp2 HG03471.hp2 HG03516.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0001 a0002c0002t0002 a0003c0003t0001	a0002c0002t0002g0161 a0002c0002t0002g0162 a0003c0003t0001g0242 a0002c0002t0002g0161 a0002c0002t0002g0162 a0003c0003t0001g0242	3	292	0.0103	770	c.51 others(781): Show c.5106_*5107insTATATAAATATATATATATTTATATATATATAAA TATATATATATTTATATATATATAAATATATATATATTTATATATATATA AATATATATAAATATATATATTTATATGTATATAAATATATATTTATATG TATATATGTATATATTTATATGTATATAAATGTATATATTTATATGTATG TAAATATATATTTATATGTATGTAAATATATATTTATATGTATATAAATA TATATTTATATGTATATAAATATATATTTATATGTATATAAATATATATT TATATGTATATAAATATATATATTTATATGTATATAAATATATATATTTA TATGTATATAAATATATATATTTATATGTATATAAATATATATATTTATA TGTATATAAATATATATATTTATATGTATATAAATATATATATTTATATG TATATAATATACATACATATATATTTATATGTATATAATATACATACATA TATATTTATATGTATATACATATATATTTATATGTATATACATATATATT TATATGTATATACATATATATTTATATGTATATACATATATATATGTATA TACATATATATGTATATACATATATATATATGTATATACATATATATATG TATATACATATATATTTATATGTATATACATATATATTTATATGTATATA CATATATTTATATGTATATACATATATATTTATATGTATATAAATATATA TTTATATGCATATAAATATATATGTATATGCATATA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4328		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(763): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCTCTCCCTCCCTCCCCT TCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTCTC TCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTTCC CTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCCCT CTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCTCC CCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTCTC TCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCT CTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCT CCATCCTCCCCTCTCTTCCTCCGTCTCCCCCTCTCCCCCCCTCTCCTTCT CTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCCC CCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCCT TCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCCCCTTTCCCTCC CTCTCCCTCTCTCTCCCTCCCTCTCCCTCTCCCCCTCCCCCCTCTCCCTC TCCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTC TGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	230	0.0044	770	c.126 others(787): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGAGAGGGAGAGGGAGGGAGAGAGAGGGAGAGGGAGGGA AAGGGGGGGGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGG GGAGAGAGGGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAG AGGGCAGGGGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGA GAGGGGGGGAGAGGGGGAGACGGAGGAAGAGAGGGGAGGATGGAGAGAGG GGAGAGAGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGC GGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGG AGCGGGAAGGAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGA GGGAGCGGGAAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGA GGGAGGGAGGGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAG AGGGGAGGGAGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGG TAGGGAGGGAGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAG GGAGGGAGAGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGG AGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GALNT17_chr7_71127144_71718599	71680477	T T	TCCCTGTC others(763): Show TCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC TCTCTCTCTTCCTCCCTCCCTGTCTTCCTCCCTCCTTCCTCTCTCCCTTC CTCCCTCCCTCTCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCC CTCCCGCTCTCTCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCTCTCT CCCTTCCTCCCTCCCTCTCTCCCTTCCTCCTCCCTCTCTCCCTTCCTCCC TCCCTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTT CCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCC GCTCTCTCTTCCTCCCTCCCG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	76	0.0132	770	c.150 others(789): Show c.1500+3172_1500+3173insCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCTC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCCCTGTCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCTCTCTCTCTTCCTCCCTCCCTGTCTTCC TCCCTCCTTCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCGCT CTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCCTCCCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCGCT CTCTCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCT CCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTTCCTCCCTCCCTCTCTCCC TTCCTCCCTCCCTCTCTCCCTTCCTCCCTCCCTCTCTCCCTTCCTCCCTC CCTCTCTCCCTTCCTCCCTCCCGCTCTCTCTTCCTCCCTCCCGC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPIHBP1_chr8_143208218_143222170	143218186	C C	CCCCAACA others(763): Show CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC AACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCCCACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAAC ACCATCCCCCACACCACCCCCAACACCACCCAACACCACCCCACACCACC CCCACACCACCCAACACCGCCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCATCCCCAACACCACCCCCAACAC CATCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCAC CCCCAACACCACCCCCAACACCACCCCCACACCACCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0003 a0003c0005t0002g0003	1	106	0.0094	770	c.26 others(781): Show c.2668_*2669insCCCAACACCACCCCCAACACCACCCCAACACCAC CCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCACCACCCCCAACACCACCCCAACACCACC CCAACACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCAACA CCACCCCACACCACCCCCACACCACCCAACACCGCCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCATCCCCAA CACCACCCCCAACACCATCCCCAACACCACCCCCAACACCACCCCAACAC CACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCACACCAC CCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAA CACCACCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACA CCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCCAACACCA CCCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCC CCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCA ACACCACCCCCAACACCACCCCAACACCACCCCCAA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1017		chr8	TogoVar
HIC1_chr17_2050103_2068241	2052377	T T	TGCCTGGG others(763): Show TGCCTGGGGCGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCC TCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCT GGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGA GGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAG AAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGC TGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGG GGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAG GGCTTGAGGAGGGGGTTAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	414	0.0024	770	c.-28 others(781): Show c.-2882_-2881insGCCTGGGGCGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGC AGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGG TTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCA ATGAGGGCTTGAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGA GACCCTCCCTTACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGGGCCT GGGCTGGGGCAGGGCTGTGAGACCCTCCCTTACAGAAGCAATGAGGGCTT GAGGAGGGGGTTAGGGGCCTGGGCTGGGGCAGGGCTGTGAGACCCTCCCT TACAGAAGCAATGAGGGCTTGAGGAGGGGGTTAGGG	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding		2725		chr17	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(763): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGGACTG TGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGT GTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACG TGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGT GTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGT GTGGACTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGT GCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTGTGTG GACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCCT GTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATT GTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	322	0.0031	770	c.50- others(785): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACT CTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGT GTGTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTG GACCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACG TGTGTGTGTGCTTGTGTGTGGACTGTGTGTGTGGACTGTAGTGTGTGTGC GTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGG ATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGT GTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTG TGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44404778	T T	TGTTTGTT others(763): Show TGTTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGT ATGTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAA GTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTG CTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTG TGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGC GTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGT GGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGTGTGGAC TGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCAT GTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTGTGCACGTG TGGGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGT GTGCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGT GGACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGT GCATGACTGTGTGGTGTGTGTGTGCATGTGTGGATTGTGTGGTGTGTGTG GACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGTGTGTGGTGTGTGTGCCT GTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATT GTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0021 a0001c0001t0046g0021	1	322	0.0031	770	c.50- others(785): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGA CTCTGTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTG GTGTGTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGA CCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTG TGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGC GTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGG ATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGTGTGTGTGTGCTTGT GTGTGGTGTGTGTGCCTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTG TGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCACGT	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
HNF4A_chr20_44350699_44437845	44404780	T T	TTTGTTGA others(763): Show TTTGTTGATGTGTGTGTATGTGTGCGTGTGTGTGAATTGTGTGTGTGTAT GTGTGGACTGTGCGTGTGTTCATGTTCGGACTGTGTGTGTGTATGTAAGT GTGTGTGCGTGTGTGTGACTGTGTGTCTTTGTGTGCCTGTGTGGACTGCT GTGTGTGCGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGTG TGGTGTGGGTGTGTGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGT GTGTGTGTGACCGTGTGGAGTGTGTCTGTGTGCATGTGTGGGCTGTGTGG TGCGTGTGTGCTTATGTTTGGCGTGTGTGTGTGTGTGTGTGGACTGTGTG GTCTGTGTGTGTGTGCGTGTGTGTGGACTCTGTGGTGTGTGCATGTGTGC ATGTATGTGCGTGTGTGTGACTGTGTGGTGTGTGTCTGTGTGCACGTGTG GGCTTATATTTGGTGTGTGTGCATGTGTGGACCGTGTGGTGTGTGTGTGT GCGTGTGTGGACTGTAGTGTGTGTGCACGTGTGTGTGTGCTTGTGTGTGG ACTGTGTGTGTGTGGACTGTAGTGTGTGTGCGTGACTGTGGTGTGTGTGC ATGACTGTGTGGTGTGTGTGTGCATGTGTGTGGATTGTGTGGTGTGTGTG GACTGTGGGTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGTGTGTGTGCGT GTGTGTGGACTGTGTGGTGCGTGTGTGTGCTTGTGTGTGGACTGTGGATT GTGTGGTGTGTGTGTGCGCAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	322	0.0031	770	c.50- others(785): Show c.50-1278_50-1277insTTGTTGATGTGTGTGTATGTGTGCGTGTGT GTGAATTGTGTGTGTGTATGTGTGGACTGTGCGTGTGTTCATGTTCGGAC TGTGTGTGTGTATGTAAGTGTGTGTGCGTGTGTGTGACTGTGTGTCTTTG TGTGCCTGTGTGGACTGCTGTGTGTGCGTGGACTGTGTGGTGTGGGTGTG TGCGTGTGTGTGGACTGTGTGGTGTGGGTGTGTGCGTGTGTGTGGACTGT GTGGTGTGGGTGTGTGCGTGTGTGTGTGACCGTGTGGAGTGTGTCTGTGT GCATGTGTGGGCTGTGTGGTGCGTGTGTGCTTATGTTTGGCGTGTGTGTG TGTGTGTGTGGACTGTGTGGTCTGTGTGTGTGTGCGTGTGTGTGGACTCT GTGGTGTGTGCATGTGTGCATGTATGTGCGTGTGTGTGACTGTGTGGTGT GTGTCTGTGTGCACGTGTGGGCTTATATTTGGTGTGTGTGCATGTGTGGA CCGTGTGGTGTGTGTGTGTGCGTGTGTGGACTGTAGTGTGTGTGCACGTG TGTGTGTGCTTGTGTGTGGACTGTGTGTGTGTGGACTGTAGTGTGTGTGC GTGACTGTGGTGTGTGTGCATGACTGTGTGGTGTGTGTGTGCATGTGTGT GGATTGTGTGGTGTGTGTGGACTGTGGGTGTGTGGTGCGTGTGTGTGCTT GTGTGTGGTGTGTGTGCGTGTGTGTGGACTGTGTGGTGCGTGTGTGTGCT TGTGTGTGGACTGTGGATTGTGTGGTGTGTGTGTGCGCAC	HNF4A	ENSG00000101076.20	transcript	ENST00000316673.9	protein_coding	1/9			chr20	TogoVar
IFFO2_chr1_18899280_18961676	18925853	T T	TGGATGGA others(763): Show TGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGATG GATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGATGGATGGATTGGTTGGATGGATGGATGGATGGATGGA TGGATGGATGGATGGATTGGTTGGTTGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATTGGTTGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGCTGGATGGATGGATGGATGGATTGG TTGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGTTGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGA TGGATGGAGGGATGGATTGGTTGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGTTGGATGGATGGATGGATGGATTGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGTTGGTTGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGA TGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATG GATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGATGGATGGA TGGATGGATTGGTTGGATGGA	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0324 a0001c0001t0003g0324	1	376	0.0027	770	c.666 others(787): Show c.666-4733_666-4732insTCCATCCAACCAATCCATCCATCCATCC ATCCATCCATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACC AATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAACCA ACCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCATCCATC CATCCATCCATCCATCCATCCAACCAATCCATCCCTCCATCCATCCATCC ATCCATCCAACCATCCATCCATCCATCCATCCATCCATCCATCCATCCAT CCAACCAATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCAAC CATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAACCAATCC ATCCATCCATCCATCCAGCCATCCATCCATCCATCCATCCATCCATCCAT CCATCCAACCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCATCCAACCAACCAATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCATCCATCCATCCATCCATCC	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33321386	C C	CATATATG others(763): Show CATATATGTATATATGGAACATATATACATATATGTATATATGGAACATA TATACATATATGTATATATGGAACATATATACATATATGTATATATGGAA CATATATACATATATGTATATATGGAACATATATACATATATGTATATAT GGAACATATATACATATATGGAACCAATACATACATGGAACATATATATG TGGAACCAATACATACACGGAACATATATATGTGGAACCAATACATACAC GGAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGA ACCAATACATATACGGAACATATATATGTGGAACCAATACATATACGGAA CATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCA ATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACATA TATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATAC ATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATATA TGTGGAACCAATACATATACGGAACATATATATCTGGAACCAATACATAT ACGGAACATATATATCTGGAACCAATACATATACGGAACATATATATGTG GAACCAATACATATACGGAACATATATATGTGGAACCAATACATATATGC AACATATATATGTGGAACCAATACATATATGCAACATATATATGTGGAAC CAATACATATATGCAACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0220 a0002c0002t0002g0220	1	323	0.0031	770	c.-36 others(781): Show c.-3670_-3669insATATATGTATATATGGAACATATATACATATATG TATATATGGAACATATATACATATATGTATATATGGAACATATATACATA TATGTATATATGGAACATATATACATATATGTATATATGGAACATATATA CATATATGTATATATGGAACATATATACATATATGGAACCAATACATACA TGGAACATATATATGTGGAACCAATACATACACGGAACATATATATGTGG AACCAATACATACACGGAACATATATATGTGGAACCAATACATATACGGA ACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACC AATACATATACGGAACATATATATGTGGAACCAATACATATACGGAACAT ATATATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATA CATATACGGAACATATATATGTGGAACCAATACATATACGGAACATATAT ATGTGGAACCAATACATATACGGAACATATATATGTGGAACCAATACATA TACGGAACATATATATGTGGAACCAATACATATACGGAACATATATATCT GGAACCAATACATATACGGAACATATATATCTGGAACCAATACATATACG GAACATATATATGTGGAACCAATACATATACGGAACATATATATGTGGAA CCAATACATATATGCAACATATATATGTGGAACCAATACATATATGCAAC ATATATATGTGGAACCAATACATATATGCAACATAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3583		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322912	T T	TATATATA others(763): Show TATATATATGGAATATATACGGAATATATATATAATATATATGGAATATA TATATACGGAATATATATAATATATATACGGAATATATATATACGGAATA TATATAATATATATACGGAATATATATATAATATATATATAATATATATA CGGAATATATATATAATATATAAATGGAATATATATACGGAATATATATA TAATATATAAATGGAATATATATATACGGAATATATATATAATATATAAA TGGAATATATATATACGGAATATATATATAATATATATATGGAATATATA TATACGGAATATATATATAATATATATATGGAATATATATATACGGAATA TATATATAATATATATATGGAATATATATATACGGAATATATATATTATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATACGGAA TATATATATATGGATATATATACGGAATATATATATATGGAATATATATA TATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGG AATATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGT GTATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATA TGGAATGTGTATATATGGAATATATATATGGAATATATATATGGAATATA TATATGGAATATATATATGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	323	0.0031	770	c.-21 others(781): Show c.-2144_-2143insATATATATGGAATATATACGGAATATATATATAA TATATATGGAATATATATATACGGAATATATATAATATATATACGGAATA TATATATACGGAATATATATAATATATATACGGAATATATATATAATATA TATATAATATATATACGGAATATATATATAATATATAAATGGAATATATA TACGGAATATATATATAATATATAAATGGAATATATATATACGGAATATA TATATAATATATAAATGGAATATATATATACGGAATATATATATAATATA TATATGGAATATATATATACGGAATATATATATAATATATATATGGAATA TATATATACGGAATATATATATAATATATATATGGAATATATATATACGG AATATATATATTATATATATGGAATATATATATACGGAATATATATATAA TATATATATGGAATATATATATACGGAATATATATATAATATATATATGG AATATATATACGGAATATATATATATGGATATATATACGGAATATATATA TATGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGG AATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATAT ATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATA TATGGAATATATATATGGAATGTGTATATATGGAATATATATATGGAATA TATATATGGAATATATATATGGAATATATATATGGA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2057		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(763): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAG GGAGGAGGGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAG AGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCA GGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGG AGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGATGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAG GAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGACGGGC AGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGG GGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0014 a0001c0004t0002g0014	1	204	0.0049	770	c.978 others(787): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGGCAGGGA GGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGA CAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGA GGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGA GGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGG AGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGG AGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGG GGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGG ACGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(763): Show ATATATTTATATATATATTATTTATATATATATTTATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATTTATATATATT TATATATATATTTATATATATATTTATATATATTTATATATATATTTATA TATATATATTTTTATATATATTTATATATATTTTTATATATAGTTATATA TATTTATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTA TAGTTATATATAGTTATGTATAGTTATATATATAGTTATATATAGTTATA TATATAGTTATATATATATATTTTTATATATATAGTTATATATATATTTT TATATATATAGTTATATATATATATTTTTATATATATAGTTATATATATA TTTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATAT ATATATTTATATATATAGTTATATATTTATATATATTTATATATATTTAT ATATATATTTATATATTTATTTATATATATTTATATATGTATTTATATAT ATTTATATATATTTATATGTATTTATATATATTTATATATATTTATATAT ATATAAATATATTTATATATATAAATATAAATATTTATATATATTTATAT ATATTTATATATATATTTATGTATATTTATATATATTTATATATATATTT ATGTATATTTATATATGTATT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	260	0.0039	770	c.125 others(787): Show c.125+9673_125+9674insATTTATATATATATTATTTATATATATA TTTATATATATTTATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATTTATATATATATTTATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATATTTTTATATATATTTATATATATT TTTATATATAGTTATATATATTTATATATAGTTATATATATTTATGTATA GTTATATATATTTATGTATAGTTATATATAGTTATGTATAGTTATATATA TAGTTATATATAGTTATATATATAGTTATATATATATATTTTTATATATA TAGTTATATATATATTTTTATATATATAGTTATATATATATATTTTTATA TATATAGTTATATATATATTTTTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATTTATATATATAGTTATATATTTATAT ATATTTATATATATTTATATATATATTTATATATTTATTTATATATATTT ATATATGTATTTATATATATTTATATATATTTATATGTATTTATATATAT TTATATATATTTATATATATATAAATATATTTATATATATAAATATAAAT ATTTATATATATTTATATATATTTATATATATATTTATGTATATTTATAT ATATTTATATATATATTTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF1_chr16_848634_975984	859796	A A	ATGTCACG others(763): Show ATGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCAC GGGACGGGTGTGCAGTGGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA TGGGTGTGACTGGTGTCTCGGGACGGTTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCTCGGGACGGGTGTGCAGTGTTGTCACGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGATGTCACGGGACGGGTGTGCAGTGG TGTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGATGT CACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTCGTGTCACG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGAGTGCTGTCTCGGGACGG GTGTGCAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCACGGGATGGGT GTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATGGTTGTGC AGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGCATGGGTGTGCAGT GGTGTCTCGGCATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTG TCTCGGGATGGGTGTGAGTGG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0290 a0001c0006t0001g0290	1	294	0.0034	770	c.153 others(789): Show c.1530-5091_1530-5090insCCACTCACACCCATCCCGAGACACCA CTCACACCCATCCCGAGACACCACTCACACCCATGCCGAGACACCACTGC ACACCCATGCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACA ACCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCA TCCCGTGACACCACTGCACACCCATCCCGTGACACCACTGCACACCCGTC CCGAGACAGCACTCACACCCGTCCCGAGACACCACGCACACCCGTCCCGA GACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGA CACGACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACATC ACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACT GCACACCCGTCCCGTGACATCACTCACACCCGTCCCGAGACACCACTCAC ACCCGTCCCGTGACAACACTGCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTC CCGAGACACCACTGCACAACCGTCCCGAGACACCAGTCACACCCATCCCG AGACACCACTGCACACCCGTCCCGAGACCACTGCACACCCGTCCCGTGAC ACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGACACCA CTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGTGACA	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar

Search by Variant

Search

Search Results