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
DNAH17_chr17_78418697_78582396	78438432	A A	AGGGAGGA others(747): Show AGGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGGAGG GAGGAGGAGGAGGGAGGAGGGAGGAGGAGGGGGAGGAGGAGGGAGGAGGG GGAGGAGGAGGGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGAGGAGGGGGAGGAGGAGGGAGGAGGGGGAGGAGGAG GGAGGAGGGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGG AGGAGGGAGGAGGGAGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGA GGAGGAGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAG GAGGAGGGAGAGGAGGAGGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGG AGGGAGGAGGAGGAGGGAGGAAGGAGGGAGGGAGGAAGGAGGAGGGAGGA GGAGGAGGAGGAGGAGGAGGAGAGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAG GAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAG GAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGA GGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGG GAGGA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0057 a0057	a0057c0176 a0057c0176	a0057c0176t0002 a0057c0176t0002	a0057c0176t0002g0222 a0057c0176t0002g0222	1	252	0.0040	754	c.118 others(773): Show c.11806-565_11806-564insTCCTCCCTCCTCCCTCCTCCTCCTCC TCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTC CTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCC TCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCTCTCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCTCCTTCCTCCC TCCCTCCTTCCTCCCTCCTCCTCCTCCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCTCCCTCCTCCTCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCC TCCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCC CCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCT CCCCCTCCTCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCCT CCTCCTCCCCCTCCTCCCTCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCT CCTCCTCCCCCTCCTCCCCCTCCTCCTCCCCCTCCTCCCTCCTCCTCCCC CTCCTCCTCCCTCCTCCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCC CTCCTCCCTCCTCCCTCCTCCTCCTCCC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
EEF1A2_chr20_63483014_63504083	63492159	T T	TGGATAGG others(747): Show TGGATAGGTGGATGGGTGGATGGACAGAAGGATGAATGGGTAGGGAGATG GATGGATGGATGGATGGGGAGGGATGGATGGATGGATGGATGGATGGGTG GATGGATAGAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGA TGGAGAGATGGATAGATGGATAGATGGATGGATGGATGGATGGATGGAGA GAAGGATGGATGGGTGGGGAGGTGGGTGGGTGGGTGGATGGGTGGATGGA TGGATGGGTGGGGAGGTGGGCGGGTGGATGGATGGATGGATGCAGAGGTG GGTGGATGGATGGATGGAGAGAAGGATGGATGGGTGGGGAGGTGGGTGGG TGGATGGATGGATGAGTGGGGAGGTGGGTGGGTGGGTGGATGGATGGATG GATGGATGCATGGATGGATGGATGGAGAGGTGGGTGGACGGATGGATGGA TTGGGAGGTGGGTAGATGGGTGGATGGACAGAAGGATGGATGGGTGGGGA GGTGGGTGGGTGGGTGGATGGATGGATGGGGAGGTGGATGGATGGATGGT TAGATGGGGAGGTGGGTGGATGGGTGGATGGACAGAAGGATGGATGGGTA GGGAGGTAGGTGAGTGGATGGATGGATGGGGAGATGGATGGATGGATAGA GAGAAGGATGGATGGGTGGGACAATGGATGGATGGATGGATAGAAGGATG GACGGGTGGGGAGATGGATGGATGGATGGATGGATGGATGGATGGATGGA CAGAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02976.hp2 HG02572.hp2 HG02809.hp1 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0010 a0001c0001 a0002c0010	a0001c0001t0001 a0002c0010t0001 a0001c0001t0001 a0002c0010t0001	a0001c0001t0001g0162 a0001c0001t0001g0163 a0002c0010t0001g0164 a0001c0001t0001g0162 a0001c0001t0001g0163 a0002c0010t0001g0164	3	374	0.0080	754	c.772 others(769): Show c.772+977_772+978insTTCTGTCCATCCATCCATCCATCCATCCAT CCATCCATCCATCTCCCCACCCGTCCATCCTTCTATCCATCCATCCATCC ATTGTCCCACCCATCCATCCTTCTCTCTATCCATCCATCCATCTCCCCAT CCATCCATCCACTCACCTACCTCCCTACCCATCCATCCTTCTGTCCATCC ACCCATCCACCCACCTCCCCATCTAACCATCCATCCATCCACCTCCCCAT CCATCCATCCACCCACCCACCCACCTCCCCACCCATCCATCCTTCTGTCC ATCCACCCATCTACCCACCTCCCAATCCATCCATCCGTCCACCCACCTCT CCATCCATCCATCCATGCATCCATCCATCCATCCATCCACCCACCCACCC ACCTCCCCACTCATCCATCCATCCACCCACCCACCTCCCCACCCATCCAT CCTTCTCTCCATCCATCCATCCACCCACCTCTGCATCCATCCATCCATCC ACCCGCCCACCTCCCCACCCATCCATCCATCCACCCATCCACCCACCCAC CCACCTCCCCACCCATCCATCCTTCTCTCCATCCATCCATCCATCCATCC ATCTATCCATCTATCCATCTCTCCATCCATCCACCCACCCACCCACCTCC CCACCCATCCATCCTTCTATCCATCCACCCATCCATCCATCCATCCATCC ATCCCTCCCCATCCATCCATCCATCCATCTCCCTACCCATTCATCCTTCT GTCCATCCACCCATCCACCTATCC	EEF1A2	ENSG00000101210.14	transcript	ENST00000217182.6	protein_coding	5/7			chr20	TogoVar
EXD3_chr9_137301896_137428162	137328653	T T	TACACGGG others(747): Show TACACGGGGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGGC TACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGC TACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACACGGGGC TACACGGGGCTACACGGGGCTACACGGGAACTACACGGGAGCTACACGGG ACTACACGGGGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGG AGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACG GGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGAGCTACACGGGGCTACACGGGACTAC ACGGGACTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTA CACGGGGCTACACGGGGCTACACGGGAGCTACACGGGGCTACACGGGACT ACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAGCTACACGGGAG CTACACGGGGCTACACGGGAGCTACACGGGAGCTACACGGGGCTACACGG GAGCTACACGGGACTACACAGGGTCACACGGGACTACACGGGACTACAGG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGACTACACG GGGTC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG04204.hp1 NA18999.hp2 HG00423.hp2 HG04204.hp1 NA18999.hp2	a0001 a0003 a0032 a0001 a0003 a0032	a0001c0001 a0003c0003 a0032c0025 a0001c0001 a0003c0003 a0032c0025	a0001c0001t0001 a0003c0003t0001 a0032c0025t0001 a0001c0001t0001 a0003c0003t0001 a0032c0025t0001	a0001c0001t0001g0010 a0003c0003t0001g0073 a0032c0025t0001g0033 a0001c0001t0001g0010 a0003c0003t0001g0073 a0032c0025t0001g0033	3	82	0.0366	754	c.199 others(773): Show c.1999-4511_1999-4510insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCCTGTAGTCCCGTGTAGTCCC GTGTGACCCTGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCTC CCGTGTAGCTCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCTCCCGTGTA GCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTA GCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTG TAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCCCCGTG TAGCTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCC GTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCC CCGTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGT TCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAG TCCCGTGTGACCCTGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAG TCCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTGA CCCTGTGTAGTCCCGTGTAGCCCCGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137329795	G G	GGCTACAC others(747): Show GGCTACACGGGACTACACGGGGTGACACGGGACTACACGGGGCTACACGG GGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGACTACACGG GGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGTCTACACG GGACTACACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACAC GGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACA CGGGAGCTACACGGGACTACACGGGGCTACACGGGGCTACACGGGGCTAC ACGGGAGCTACACGGGGCTACACGGGGCTACACGGGACTACACGGGGCTA CACGGGGCTACACGGGAGCTACACGGGACTACACGGGGCTACACGGGGCT ACACGGGAGCTACACGGGGCTACACGGGGCTACACGGGGCTACACGGGAC TACACGGGAGCTACACGGGACTACACGGGGCTACACGGGACTACACGGGG CTACACGGGGCTACACGGGGCTACACGGGACTACACGGGAGCTACACGGG ACTACACGGGACTACACGGGACTACACAGGGTCACACGGGACTACACGGG ACTACACGGGACTACACAGGAACTACACAGGGTCACACAGGACTACACCG GAGCTACACGGGACTACACAGGACTACACAGGACTATGCAGGACCACACA GGAGCTATACAGGAGCTACACGGGACTACACAGGACTACACGGGACTACA CCGGA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0028 a0002c0002t0001g0028	1	82	0.0122	754	c.199 others(773): Show c.1999-5653_1999-5652insTCCGGTGTAGTCCCGTGTAGTCCTGT GTAGTCCCGTGTAGCTCCTGTATAGCTCCTGTGTGGTCCTGCATAGTCCT GTGTAGTCCTGTGTAGTCCCGTGTAGCTCCGGTGTAGTCCTGTGTGACCC TGTGTAGTTCCTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTGACC CTGTGTAGTCCCGTGTAGTCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGT CCCGTGTAGCCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGTAGC CCCGTGTAGTCCCGTGTAGCTCCCGTGTAGTCCCGTGTAGCCCCGTGTAG CCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTA GTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCGTGT AGCCCCGTGTAGCCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTG TAGCCCCGTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGT GTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCCCG TGTAGCTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGACCCGTGTAGCCCC GTGTAGTCCCGTGTAGCTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGCCC CGTGTAGCCCCGTGTAGTCCCGTGTAGCCCCGTGTAGCCCCGTGTAGTCC CGTGTCACCCCGTGTAGTCCCGTGTAGC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355621	G G	GGAGGAAG others(747): Show GGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAA GGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGAT GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAG GAGAAGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGGAGGATGG AGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGA AGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGA AGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGG AAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGAAAGGGAGGAAGGAGG AAGGAGAAAGGGAGGAAGGAGGAAGAGAGGAAGGAGGAAGGAGGAAGGAG GAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	82	0.0122	754	c.757 others(769): Show c.757+646_757+647insTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCT TCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCT CTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTTTCTCCTTTCT CCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCA TCCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCT TCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCC TTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTCC TCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTTC TCCTTCCTCCCTTTCTCCTTCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAT others(747): Show TCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCAC CCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC CTTTCCTCCCTCCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTT TCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC CCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCC CCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTT TCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCT CCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCACCC CCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCT CCCTC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0012 a0007c0007t0012	a0007c0007t0012g0025 a0007c0007t0012g0025	1	314	0.0032	754	c.119 others(771): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGGTGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGAGG ATGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGAGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGG GATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGA AAGGGGGTGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGGT GGGGGAGGGAGGAAAGGGGATGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
EXPH5_chr11_108500435_108598768	108586505	T T	TCCCCCAT others(747): Show TCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCAT CCCCTTTCCTCCCTCCCCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTC CTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCC CCCACCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCC CTTTCCTCCCTCCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTT TCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTC CCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCC CCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCATCCCCTTTCCTC CCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCC ATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTT TCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCT CCCCCATCCCCTTTCCTCCCTCCCCATCCTCTTTCCTCCCTCCCCCACCC CCTTTCCTCCCTCCCCCATCCCCTTTCCTCCCTCCCCCACCCCCTTTCCT CCCTC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03209.hp2 HG01175.hp2 HG03209.hp2	a0021 a0025 a0021 a0025	a0021c0018 a0025c0032 a0021c0018 a0025c0032	a0021c0018t0019 a0025c0032t0001 a0021c0018t0019 a0025c0032t0001	a0021c0018t0019g0023 a0025c0032t0001g0024 a0021c0018t0019g0023 a0025c0032t0001g0024	2	314	0.0064	754	c.119 others(771): Show c.119+6912_119+6913insGAGGGAGGAAAGGGGGTGGGGGAGGGAG GAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGAGG ATGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAG GGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGG ATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGA GGGAGGAAAGAGGATGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAA GGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGG GGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGA GGAAAGAGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGG GATGGGGGAGGGAGGAAAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGG AGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGA AAGGGGGTGGGGGAGGGAGGAAAGGGGATGGGGGAGGGAGGAAAGGGGGT GGGGGAGGGAGGAAAGGGGATGGGGG	EXPH5	ENSG00000110723.12	transcript	ENST00000265843.9	protein_coding	1/5			chr11	TogoVar
GAL3ST2_chr2_241771822_241809287	241806154	A A	ACCCTCCC others(747): Show ACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCTCAGCCCAGGGA CCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTC CCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGAC CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCC ACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	314	0.0032	754	c.19 others(765): Show c.1988_*1989insCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTCCCTCCCCC CTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCC TCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGACCTCTGCAGGCCACCCT	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		1868		chr2	TogoVar
GFPT2_chr5_180295698_180358336	180299952	T T	TGTGATAC others(747): Show TGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTA GCTCCCAGGTTTCCAGCCCGTGATACAGGTGAGGGCATAGGACAGGATGG TGGATAACTGGAAATGTAGCTCCCAGGTTTCCAGCCCGTGATACAGGTGA GGGCATAGGACAGAATGGTGGATAACTGGAAATGTAGCTCCCAGGTTTCC AGCCCGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAA TGTAGTTCCCAGGTTTCCAGCCCCTGTGATACAGGTGAGGGCATAGGACA GGATGGTGGATAACTGGAAATGTAGCTCCCAGGTTTCCAGCCCGTGATAC AGGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGCTCCCAG GTTTCCAGCCCGTGATACAGGTGAGGGCATAGGACAGGATGGTGGATAAC TGGAAATGTAGCTCCCAGGTTTCCAGCCCGTGATACAGGTGAGGGCATAG GACAGGATGGTGGATAACTGGAAATGTAGTTCCCAGGTTTCCAGCCCCTG TGATACAGGTGAGGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGC TCCCAGGTTTCCAGCCCGTGATACAGGTGAGGGCATAGGACAGGATGGTG GATAACTGGAAATGTAGTTCCCAGGTTTCCAGCCCCTGTGATACAGGTGA GGGCATAGGACAGGATGGTGGATAACTGGAAATGTAGCTCCCAGGTTTCC AGCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 NA18964.hp2 NA19060.hp1 others(1): Show HG02083.hp1 NA18964.hp2 NA19060.hp1 NA19063.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0011 a0001c0004t0001g0171 a0001c0004t0001g0235 a0001c0004t0001g0011 a0001c0004t0001g0171 a0001c0004t0001g0235	4	412	0.0097	754	c.16 others(765): Show c.1611_*1612insGGGCTGGAAACCTGGGAGCTACATTTCCAGTTAT CCACCATCCTGTCCTATGCCCTCACCTGTATCACAGGGGCTGGAAACCTG GGAACTACATTTCCAGTTATCCACCATCCTGTCCTATGCCCTCACCTGTA TCACGGGCTGGAAACCTGGGAGCTACATTTCCAGTTATCCACCATCCTGT CCTATGCCCTCACCTGTATCACAGGGGCTGGAAACCTGGGAACTACATTT CCAGTTATCCACCATCCTGTCCTATGCCCTCACCTGTATCACGGGCTGGA AACCTGGGAGCTACATTTCCAGTTATCCACCATCCTGTCCTATGCCCTCA CCTGTATCACGGGCTGGAAACCTGGGAGCTACATTTCCAGTTATCCACCA TCCTGTCCTATGCCCTCACCTGTATCACGGGCTGGAAACCTGGGAGCTAC ATTTCCAGTTATCCACCATCCTGTCCTATGCCCTCACCTGTATCACAGGG GCTGGAAACCTGGGAACTACATTTCCAGTTATCCACCATCCTGTCCTATG CCCTCACCTGTATCACGGGCTGGAAACCTGGGAGCTACATTTCCAGTTAT CCACCATTCTGTCCTATGCCCTCACCTGTATCACGGGCTGGAAACCTGGG AGCTACATTTCCAGTTATCCACCATCCTGTCCTATGCCCTCACCTGTATC ACGGGCTGGAAACCTGGGAGCTACATTTCCAGTTATCCACCATCCTGTCC TATGCCCTCACCTGTATCAC	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		745		chr5	TogoVar
GPRIN1_chr5_176590802_176615156	176591775	G G	GTTGTGAT others(747): Show GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATG GTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTG ATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAG GTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTT GAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTTGGT GTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGTGTT GGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGATGGT GTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGATGAT GGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGTGAT GATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGTGGT GATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGATGGT GGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGTGAT GGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGGT GATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGAT GGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	1	397	0.0025	754	c.50 others(765): Show c.5032_*5033insTCACCATCACAACCATCACCATCACCTCAACACC AACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTCAAC ACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCACCTC AACACCAACACCATCATCACCACCATCACCATCACAACCATCACCATCAC CTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCACCAT CACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCATCAC CATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAACCAT CACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCACAAC CATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCATCAC AACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCACCAT CACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCACCATCACAA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4026		chr5	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(747): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0258 a0011c0016t0002g0258	1	268	0.0037	754	c.-28 others(765): Show c.-2852_-2851insAGTAACTATATTAATATAGTTAGTATATATTAAT ATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACT ATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAAT ATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTAT ATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATA GTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATT AATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGT TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GTPBP6_chrX_299759_323796	322517	G G	GAAAAGAA others(747): Show GAAAAGAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGCTG CTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACACCA GCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAAAA AGAAAAGCCGGGCGTGGTGGTGGGTTCCTGTGGTCCCAGCTGCTCGGGAC GCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAGCATGGGC AATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAAAAAAAAA GAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCAGCTGC TCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACGCCAG CATGGGCAATATGGTAAGACCCTATTATCTACAAAAAAAAAAAAAAAAAA AAAAAGAAAGAAAAATTAGCCTGGTGTGGTGGTGGGTGCCTGTGGTCCCA GCTGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGAC GCCAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAA AAAAAGAAAAAAATTAGCCGGGCGTGGTGGTGGGTGCCTGTGGTCCCAGC TGCTCGGGACGCTGAGGTGGGAGGATTGCTTGAGCCCAGGAGTTTGACAC CAGCATGGGCAATATGGTAAGACCCCATTATCTACAAAAAAAAAAAAAAA AAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0095 a0003c0004t0002g0095	1	155	0.0065	754	c.-37 others(765): Show c.-3731_-3730insTTTTTTTTTTTTTTTTTTTTGTAGATAATGGGGT CTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATCCT CCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACGC CCGGCTAATTTTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGGGTCT TACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAATCCTCC CACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCACACCA GGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTGTAGATAATAG GGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTCAAGCAAT CCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCA CACCAGGCTAATTTTTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGTAG ATAATAGGGTCTTACCATATTGCCCATGCTGGCGTCAAACTCCTGGGCTC AAGCAATCCTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGAACCC ACCACCACGCCCGGCTTTTCTTTTTTTTTTTTTTTTTTGTAGATAATGGG GTCTTACCATATTGCCCATGCTGGTGTCAAACTCCTGGGCTCAAGCAATC CTCCCACCTCAGCGTCCCGAGCAGCTGGGACCACAGGCACCCACCACCAC GCCCGGCTAATTTTTCTTTT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding		3722		chrX	TogoVar
IFNAR1_chr21_33319970_33364864	33322915	A A	ATATATGG others(747): Show ATATATGGAATATATACGGAATATATATATAATATATATGGAATATATAT ATACGGAATATATATAATATATATACGGAATATATATATACGGAATATAT ATAATATATATACGGAATATATATATAATATATATATAATATATATACGG AATATATATATAATATATAAATGGAATATATATACGGAATATATATATAA TATATAAATGGAATATATATATACGGAATATATATATAATATATAAATGG AATATATATATACGGAATATATATATAATATATATATGGAATATATATAT ACGGAATATATATATAATATATATATGGAATATATATATACGGAATATAT ATATAATATATATATGGAATATATATATACGGAATATATATATTATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATACGGAATATATATATATGGATATATATACGGAATATATATATATGGAA TATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGT ATATATGGAATATATATATATGGAATGTGTATATATGGAATATATATATA TGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAA TATATATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGT ATATATGGAATATATATATGGAATGTGTATATATGGAATATATATATGGA ATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01978.hp1 HG01261.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0166 a0001c0001t0001g0136 a0001c0001t0001g0166	2	323	0.0062	754	c.-21 others(765): Show c.-2141_-2140insTATATGGAATATATACGGAATATATATATAATAT ATATGGAATATATATATACGGAATATATATAATATATATACGGAATATAT ATATACGGAATATATATAATATATATACGGAATATATATATAATATATAT ATAATATATATACGGAATATATATATAATATATAAATGGAATATATATAC GGAATATATATATAATATATAAATGGAATATATATATACGGAATATATAT ATAATATATAAATGGAATATATATATACGGAATATATATATAATATATAT ATGGAATATATATATACGGAATATATATATAATATATATATGGAATATAT ATATACGGAATATATATATAATATATATATGGAATATATATATACGGAAT ATATATATTATATATATGGAATATATATATACGGAATATATATATAATAT ATATATGGAATATATATACGGAATATATATATATGGATATATATACGGAA TATATATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATATGGAATGTGTATATATGGAATATATATATATGGAATGTGTATATA TGGAATATATATATATGGAATGTGTATATATGGAATATATATATATGGAA TGTGTATATATGGAATATATATATATGGAATGTGTATATATGGAATATAT ATATATGGAATGTGTATATATGGAATATATATATGGAATGTGTATATATG GAATATATATATGGAATATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2054		chr21	TogoVar
IGSF9B_chr11_133891438_133961968	133932722	A A	ACAGACAG others(747): Show ACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCA GGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGC AGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGA CACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGC CAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGA GCAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACA GACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACACAGGGAAGCCA GGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGC AGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGA CAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGG AAGCCAGGTGGGAGAGCAGACAGAGACAGACACAGGGAAGCCAGGTGGGA GAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGGGAGAGCAGACATA CAGACACAGGGAAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGG AAGCCAGGTGGGAGAGCAGACAGACAGACAGACACAGGGAAGCCAGGTGG GAGAG	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0240 a0001c0002t0015g0240	1	362	0.0028	754	c.968 others(769): Show c.968-510_968-509insCTCTCCCACCTGGCTTCCCTGTGTCTGTCT GTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTATGTCTGCTCTCCCACCTGGCTTC CCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGT CTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCT CTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGG CTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCT GGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCT GTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTC TGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCAC CTGGCTTCCCTGTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGT CTGTCTGTCTGTCTGCTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTG CTCTCCCACCTGGCTTCCCTGTGTCTGTCTGTCTGTCTGCTCTCCCACCT GGCTTCCCTGTGTCTGTCTGTCTG	IGSF9B	ENSG00000080854.16	transcript	ENST00000533871.8	protein_coding	7/19			chr11	TogoVar
INPP5A_chr10_132532787_132788480	132622895	C C	CGTTCGTG others(747): Show CGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAA ATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAA CTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACG TGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	204	0.0049	754	c.117 others(773): Show c.117+14996_117+14997insCGTTCGTGGATTGGAAGACTCAGTTA CGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGA CTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGA TTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCG TTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAAT ATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACT TGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTG TTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACG CTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATTGGAAGACT CAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTTCGTGGATT GGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATATACCGCGTT CGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTGAGAAATAT ACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTTAGAACTTG AGAAATATACCGCGTTCGTGGATTGGAAGACTCAGTTACGCTGACGTGTT AGAACTTGAGAAATATACCGTGTTCGTGGATTGGAAGACTCAGTTACGCT GACGTGTTAGAACTTGAGAAATATACCG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(747): Show GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGA GGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGG AGGAGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGATGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAG GAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGAAACGGGCAGGGAGGAG AGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGG GAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGA GAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGC AGGGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	204	0.0049	754	c.978 others(771): Show c.978-2481_978-2480insGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA TGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGGGGCAGGG AGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGG AGAAACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGG AGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG AGGGGCAAGGAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(747): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACC CCTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCC CGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACC CCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCC CTATCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCC ACACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAG GACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTATCCCCACACCCCTGT CCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACA CCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTC CCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	376	0.0027	754	c.-42 others(763): Show c.-429_-428insCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCT GGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGG GACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTCTGAGG ACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGG GTCCTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		370		chr11	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAG others(747): Show TAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0140 a0002c0003t0001g0140	1	308	0.0033	754	c.127 others(773): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KIAA0930_chr22_45187244_45245894	45228775	C C	CCCCCAAC others(747): Show CCCCCAACCACCAAACACTCACCTGAGAGATCCCTCTCCACCCCCCTACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCAC CTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGAAAGATCCC TCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGC CATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCT CTCCACCCCCGCCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCA ACCACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCATCACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCT CTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAA CCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCC GAAAGATCCCTCTCCACCCCCCAACCACCAAACACTCACCTGAGAGATCC CTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCC AACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCAC CCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCT CTCCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0144 a0001c0001t0009g0144	1	398	0.0025	754	c.64+ others(771): Show c.64+11864_64+11865insTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGG TGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTG GAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTT CGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGG AGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTG GTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGA GAGGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TGGCGGGGGTGGAGAGGGATCTCTCAGGTGAGTGTTTGGTGGTTGGGGGG TGGAGAGGGATCTTTCGGGTGAGTGGTGGTAGGGGGGTGGAGAGGGATCT CTCAGGTGAGTGTTTGGTGGTTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
LHPP_chr10_124456823_124619141	124471657	A A	ATATATTT others(747): Show ATATATTTATATATATTTATATATATATTTATATATATATTTATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATTTATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATTTATATATATATTTATATATATATATTTTTATATATATTT ATATATATTTTTATATATAGTTATATATATTTATATATAGTTATATATAT TTATGTATAGTTATATATATTTATGTATAGTTATATATAGTTATGTATAG TTATATATATAGTTATGTATAGTTATATATATAGTTATATATATATATTT TTATATATATAGTTATATATATATATTTTTATATATATAGTTATATATAT ATATTTTTATATATATAGTTATATATATATATTTTTATATATATAGTTAT ATATATATATTTTTATATATATAGTTATATATATATTTATATATATAGTT ATATATTTATATATATTTATATATATTTATATATATATTTATATATTTAT TTATATATATTTATATATGTATTTATATATATTTATATATATTTATATGT ATTTATATATATTTATATATATTTATATATATATATATAAATATATTTAT ATATATAAATATAAATATTTATATATATTTATATATATTTATATATATAT TTATGTATATTTATATATATTTATATATATATTTATGTATATTTATATAT GTATT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	260	0.0039	754	c.125 others(771): Show c.125+9673_125+9674insATTTATATATATTTATATATATATTTAT ATATATATTTATATATATTTATATATATTTATATATATTTATATATATAT TTATATATATTTATATATATTTATATATATATTTATATATATATTTATAT ATATATTTATATATATATTTATATATATTTATATATATATTTATATATAT ATATTTTTATATATATTTATATATATTTTTATATATAGTTATATATATTT ATATATAGTTATATATATTTATGTATAGTTATATATATTTATGTATAGTT ATATATAGTTATGTATAGTTATATATATAGTTATGTATAGTTATATATAT AGTTATATATATATATTTTTATATATATAGTTATATATATATATTTTTAT ATATATAGTTATATATATATATTTTTATATATATAGTTATATATATATAT TTTTATATATATAGTTATATATATATATTTTTATATATATAGTTATATAT ATATTTATATATATAGTTATATATTTATATATATTTATATATATTTATAT ATATATTTATATATTTATTTATATATATTTATATATGTATTTATATATAT TTATATATATTTATATGTATTTATATATATTTATATATATTTATATATAT ATATATAAATATATTTATATATATAAATATAAATATTTATATATATTTAT ATATATTTATATATATATTTATGTATATTTATATATATTTATATATATAT TTATGTATATTTATATATGTATTTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LORICRIN_chr1_153254687_153267124	153256763	A A	ATATATAG others(747): Show ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATAGTCACATATGTAT ATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTATAT GTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATATAT GTATATAAAACTATATACAGTCATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATAT GTATATAAAACTATATATAGTCATATATGTATATAAAACTATATAGTTAT ATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATAT ATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATAT GTATGTAAAACTATAGTTATATATGTAAAACTATAGTTATATATGTAAAA CTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACT ATATACAGTTATGTATGTATGTAAAACTATATACAGTTATGTATGTATGT AAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02723.hp2 HG02451.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	422	0.0047	754	c.-29 others(765): Show c.-2994_-2993insTATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TAGTCACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAAC TATATATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAA ACTATAGTCATATATGTATATAAAACTATATACAGTCATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATACAGTCATATATGTATATAAAACTATATATAGTCATATATGTATATA AAACTATATAGTTATATATGTATATAAAACTATAGTTATATATGTATATA AAACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAA ACTATAGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATA GTTATATATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATA TATGTATGTAAAACTATATACAGTTATGTATGTATGTAAAACTATATACA GTTATGTATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2923		chr1	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(747): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGGTCGGCGTGG GCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGG GTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCAG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0004 a0001c0001t0009g0004	1	414	0.0024	754	c.-43 others(765): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCAGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(747): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGGTCGGCGTGG GCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGG GTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGA GTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTG GGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGG GGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCAG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCG TGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGA GGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGG GGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	754	c.26 others(765): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGT GGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGG CCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGG TGGGGAGTGAGGAGGGGTCGGCCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCAGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGT GAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGC GGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTC CCCAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp1 HG02040.hp2 others(5): Show HG00597.hp1 HG00738.hp1 HG02040.hp2 HG02083.hp2 HG02738.hp2 HG03654.hp2 HG03710.hp2 HG04204.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0003 a0001c0009 a0001c0030 others(3): Show a0001c0003 a0001c0009 a0001c0030 a0002c0013 a0002c0044 a0017c0065	a0001c0003t0001 a0001c0003t0033 a0001c0009t0007 others(4): Show a0001c0003t0001 a0001c0003t0033 a0001c0009t0007 a0001c0030t0001 a0002c0013t0007 a0002c0044t0001 a0017c0065t0001	a0001c0003t0001g0182 a0001c0003t0001g0207 a0001c0003t0033g0052 others(5): Show a0001c0003t0001g0182 a0001c0003t0001g0207 a0001c0003t0033g0052 a0001c0009t0007g0255 a0001c0030t0001g0246 a0002c0013t0007g0269 a0002c0044t0001g0119 a0017c0065t0001g0205	8	278	0.0288	754	c.115 others(771): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCTCCTCCCCTCCCCTC CCCAC	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0115 a0002c0005t0001g0115	1	278	0.0036	754	c.115 others(771): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCTCCTCCCCTCCC CTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCC ACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTT CCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCC CTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCC TTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCC CCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCT CCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCC TTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTC CCCAC	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0110 a0002c0013t0003g0110	1	278	0.0036	754	c.115 others(771): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCC TCCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCT CTTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTT CCCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCT CCCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCA TCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCG CCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCT CCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCT CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTC CCCAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG00741.hp1 others(16): Show HG00544.hp2 HG00621.hp1 HG00741.hp1 HG01074.hp2 HG01168.hp2 HG01256.hp1 HG01358.hp1 HG02015.hp1 HG02071.hp1 HG02074.hp2 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02451.hp2 HG03491.hp1 HG03492.hp1 NA18964.hp2 NA18971.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0005 a0002c0017 others(2): Show a0001c0003 a0002c0005 a0002c0017 a0002c0051 a0003c0032	a0001c0003t0001 a0001c0003t0024 a0001c0003t0028 others(4): Show a0001c0003t0001 a0001c0003t0024 a0001c0003t0028 a0002c0005t0001 a0002c0017t0001 a0002c0051t0001 a0003c0032t0001	a0001c0003t0001g0016 a0001c0003t0001g0020 a0001c0003t0001g0043 others(16): Show a0001c0003t0001g0016 a0001c0003t0001g0020 a0001c0003t0001g0043 a0001c0003t0001g0095 a0001c0003t0001g0139 a0001c0003t0001g0152 a0001c0003t0001g0184 a0001c0003t0001g0188 a0001c0003t0001g0213 a0001c0003t0001g0244 a0001c0003t0001g0276 a0001c0003t0024g0222 a0001c0003t0028g0039 a0002c0005t0001g0076 a0002c0005t0001g0092 a0002c0017t0001g0266 a0002c0017t0001g0267 a0002c0051t0001g0159 a0003c0032t0001g0263	19	278	0.0684	754	c.115 others(771): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCCTCCCCTCCCCGTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCCCTC CACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCCTCC CCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCTCCC CCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCTCCA CCCTCCCTTCCCCTCCCCTGCCCTCCTCCCTCCCCTCCCCTCCCCTCTTC CCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTCCCC TCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTCCCT TCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCC CCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGCCTC CCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCT TCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTCCCC CCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCT CTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCC TTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCTC CCCAC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0256 a0001c0003t0001g0256	1	278	0.0036	754	c.115 others(771): Show c.1157+156_1157+157insGTCCCCTCCCTTCCCCTCCCCTCCTCCC TCCCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTTCC CTCCACCCTCCCCTCCCCTCCCTTCCCTCCCCCCTCCCCTCCCCCTCCCC TCCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCT CCACCCTCCCTTCCCCTCCCCTGCCCTCCTCCCTCCCCTCCCCTCCCCTC TTCCCCTCCCCTCCCCTCCACCCTCCCTTCCCCTCCCCTTCCCTCCCTTC CCCTCCCCTCCCCTTCCCTCCACCCTCCCCTTCCCCCTCCCCTCCCCCTC CCTTCCCCTCCCCCCTTCCCCTCCCCCTTCCCCCTCCCCTCCCATTCCAT CCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTCCCCTCCCCTCTTCGC CTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTCCCCTCCCTTCCCCTC CCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCTCCCTTCCCCTCCCTC CCCCCCTCCTCCCCCTCCCTTCCCCTCCGCTTGCCCCTTCCCTCCCCTCT CCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCCCACCTCCCCCCTCCCCT CCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCCCCTCCCCCTCCCCTCCC CTCCCCACCCCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCGTCCCGTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCC CCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCT CCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCT TCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCT CCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCC CCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTC CCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCT CCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTC CCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTC CCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCT CCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTG CCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCC CACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01243.hp2 HG02015.hp2 others(16): Show HG01175.hp1 HG01243.hp2 HG02015.hp2 HG02056.hp2 HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02723.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG04228.hp1 NA18612.hp1 NA18942.hp1 NA18971.hp2 NA18983.hp2 NA19066.hp1 NA19067.hp2 NA20752.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0008 a0001c0023 others(4): Show a0001c0001 a0001c0008 a0001c0023 a0001c0074 a0002c0002 a0002c0010 a0011c0045	a0001c0001t0003 a0001c0001t0007 a0001c0001t0035 others(7): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0035 a0001c0008t0001 a0001c0023t0001 a0001c0074t0001 a0002c0002t0004 a0002c0002t0005 a0002c0010t0001 a0011c0045t0001	a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0007g0234 others(16): Show a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0007g0234 a0001c0001t0035g0257 a0001c0008t0001g0055 a0001c0008t0001g0227 a0001c0008t0001g0278 a0001c0023t0001g0079 a0001c0074t0001g0130 a0002c0002t0004g0258 a0002c0002t0004g0261 a0002c0002t0005g0239 a0002c0002t0005g0240 a0002c0010t0001g0113 a0002c0010t0001g0120 a0002c0010t0001g0121 a0002c0010t0001g0123 a0002c0010t0001g0198 a0011c0045t0001g0149	19	278	0.0684	754	c.115 others(771): Show c.1157+145_1157+146insGTCCCGTCCCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCT CCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTC CCTTCCCCTCCCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCC CCTCCCCTCCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCA CCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCCCCTCCCCTCCACCCTCGC TTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCC TTCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCC TCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCC CTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCC CCTTCCCTCCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCC TTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCC TCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCC CACTCCTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(747): Show GCCCTCCCGTCCCGTCCCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCC TTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCC CTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCCTTCCCCTCCCCTCCC CTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCCCTTCCCCTCC CCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCCTCCTCCCTCCCCTCCC CTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCTTCCCTCCCCCCTCC CCTCCCCTCCCCCCTCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCCT CCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCCTCCCCTCCCCCCTC CCCTCCCCCCTTCACCTCCCCTCCCCTCTGCCCTCCCTTCCCCGCCCCTC CCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCCCCTTCCCTCCCCCT CCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCCTTCCCCTCCGCTTG CCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTCCCCTTCCCTCCC CACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCACTCCTCCTCTCC CCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0260 a0002c0002t0032g0260	1	278	0.0036	754	c.115 others(771): Show c.1157+145_1157+146insGTCCCGTCCCCCCTCCCCTCCCCTCCCT TCCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCCTTCCCCTC CCCTCCTCCCTCCCCTCCCTTCCCCTCCCCTCCTCCCTCCCCTCCCCCCT TCCCCTCCCCTCCCCTCCACCCTCCCCTCCCCTCCACCCTCCCCTCCCCT CCCCCTTCCCCTCCCCTCCCCTCCACCCTCGCTTCCCCTCCCCTCCCCTC CTCCCTCCCCTCCCCTCCTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCT TCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCTTCCCCTCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCC TCCCCTCCCCCCTCCCCTCCCCCCTTCACCTCCCCTCCCCTCTGCCCTCC CTTCCCCGCCCCTCCCCTCCCTTCCCCTCCCTTCCCCTCCCCTCACCTCC CCTTCCCTCCCCCTCCCTTCCTCTCCCCTCCCCCCTCTCCTCCCCCTCCC TTCCCCTCCGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCC TCCCCTTCCCTCCCCACCTCCCCCCTCCCCTCCCTTCCCTCTCCTGTCCC CACTCCTCCTCTCCCCTCCCCCTCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MICALL2_chr7_1429359_1464470	1446452	G G	GGGGGGAG others(747): Show GGGGGGAGGAGGGAGAGGAGGGGGGAGGAGGGAGAGAAGGGGGGAGGAGG GGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGG AGAGGAGGGGGGAGGAGTGAGAGAAGGGGGGAGGAGGGAAAAGGGGAGGA GGCGGAGCAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAG GGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAG GGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGGAGGGGG GAGGAGGGAGAGAAGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAG CAGTAGGGAGAGAAGAGTGAAGAGGGAGAGGAGGGGGGAGGAGGGAGAGA AGGGGGGAGGAGGGGGAAAAAGGGGGAGGAGGCGGAGCAGTAGGGAGAGA AGAGTGAAGAGGGAGAGGAGGGGGGAGGAAGGGGAAAAGGGGGAGGAGGC GGAGCAGTAGGGGGAGGAGAGTGAGGAGGGGAAGGATGGGGAGGAGGGAA AAGAGGAGGAGGGGGAGGAGGAAGAGAAGGAAGGGGAGAAAGAAGAGGAG GAGGAGAGTGGAAAGGGGAGGAGAAGGGTGAGGACAGGGAAGAGGGGGAA AGGAGGGTGAGGAGGAGGGAGAGAAGAGAGAGAAGGAAGAGAAAGAGGGG GAGAGGAGGGTAAGGAGGAGGGAGAGAAGGGAGAGGAGGAACAGGAGGAA GAGGA	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 NA18906.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1	a0003 a0053 a0054 a0003 a0053 a0054	a0003c0004 a0053c0070 a0054c0054 a0003c0004 a0053c0070 a0054c0054	a0003c0004t0002 a0053c0070t0002 a0054c0054t0002 a0003c0004t0002 a0053c0070t0002 a0054c0054t0002	a0003c0004t0002g0139 a0053c0070t0002g0161 a0054c0054t0002g0160 a0003c0004t0002g0139 a0053c0070t0002g0161 a0054c0054t0002g0160	3	280	0.0107	754	c.641 others(769): Show c.641+260_641+261insTCCTCTTCCTCCTGTTCCTCCTCTCCCTTC TCTCCCTCCTCCTTACCCTCCTCTCCCCCTCTTTCTCTTCCTTCTCTCTC TTCTCTCCCTCCTCCTCACCCTCCTTTCCCCCTCTTCCCTGTCCTCACCC TTCTCCTCCCCTTTCCACTCTCCTCCTCCTCTTCTTTCTCCCCTTCCTTC TCTTCCTCCTCCCCCTCCTCCTCTTTTCCCTCCTCCCCATCCTTCCCCTC CTCACTCTCCTCCCCCTACTGCTCCGCCTCCTCCCCCTTTTCCCCTTCCT CCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTC CCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTC CCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTTTTCCCC CTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCCTCCCCCCT CCTCTCCCTCTTCACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCCTTT TTCCCCCTCCTCCCCCCTTCTCTCCCTCCTCCCCCCTCCTCTCCCTCTTC ACTCTTCTCTCCCTACTGCTCCGCCTCCTCCCCTTTTCCCTCCTCCCCCC TTCTCTCACTCCTCCCCCCTCCTCTCCCTCTTCACTCTTCTCTCCCTACT GCTCCGCCTCCTCCCCCTTTTTCCCCCTCCTCCCCCCTTCTCTCCCTCCT CCCCCCTCCTCTCCCTCCTCCCCC	MICALL2	ENSG00000164877.19	transcript	ENST00000297508.8	protein_coding	5/16			chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(747): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCC TCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCT CTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCC CTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTC CTCCC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	140	0.0071	754	c.114 others(773): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCC CCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCT CCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTC CCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCT CCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370338	G G	GCTATCCC others(747): Show GCTATCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCCTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC TGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCT CCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	394	0.0025	754	c.-7- others(767): Show c.-7-114_-7-113insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGA GGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAG GGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGC CGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGG GCCGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGATAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(747): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAAAATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATA TAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGTA TAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTA AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATATA AAAAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19087.hp1 NA19062.hp1 NA19087.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0008 a0006c0009t0007 a0001c0002t0008 a0006c0009t0007	a0001c0002t0008g0114 a0006c0009t0007g0067 a0001c0002t0008g0114 a0006c0009t0007g0067	2	326	0.0061	754	c.358 others(771): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAAAATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAA ATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAA ATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATAT AAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(747): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAAAATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATA TAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGTA TAAAAATATATATATTTAAATATAAGTATGTATAAAAATATATATATTTA AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATATA AAAAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0019 a0006c0009t0007g0019	1	326	0.0031	754	c.358 others(771): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAAAATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTAA ATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATGTATAAAA ATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATAT AAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(747): Show AATATATATATTTAAATATAAGTATATATAAATATATATATTTCAAAATA AGTATATATAAATATATATATTTCAAAATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATACATATTTCAATA TAAGTATGTATATAAATATACATATTTCAATATAAGTATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAA TATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAATATA TATATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTA TGTATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATA TTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTA TAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATATTTA AATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATATATA AAAAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0007 a0006c0009t0007	a0006c0009t0007g0069 a0006c0009t0007g0069	1	326	0.0031	754	c.358 others(771): Show c.358+3191_358+3192insATTTAAATATAAGTATATATAAATATAT ATATTTCAAAATAAGTATATATAAATATATATATTTCAAAATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ACATATTTCAATATAAGTATGTATATAAATATACATATTTCAATATAAGT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAAAT ATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATATAAGT ATGTATAAATATATATATTTCAATATAAGTATGTATAAAAATATATATAT TTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTAT AAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTTCA ATATAAGTATGTATAAAAATATATATATTTAAATATAAGTATATATAAAA ATATATATATTTAAATATAAGTATATATAAAAATATATATATTTAAATAT AAGTATATATATAAAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(747): Show AATATATATATTTAAATATAAGTATATGTAAATATATATATTTCAATATA AGTATATGTAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATATATA AATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATA TAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATA TATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAG TATGTATATAAATAAATATATTTCAATATAAGTATGTATATAAATATATA TATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAATATATATATTTAAATATAAGTATATATA TAAAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0025 a0001c0018t0025	a0001c0018t0025g0181 a0001c0018t0025g0181	1	326	0.0031	754	c.358 others(771): Show c.358+3191_358+3192insATTTAAATATAAGTATATGTAAATATAT ATATTTCAATATAAGTATATGTAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATATATAAATATATATATTTCAATATAAGTATGTATATAAATAT ATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAAGT ATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATATAT ATTTCAATATAAGTATGTATATAAATAAATATATTTCAATATAAGTATGT ATATAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATAAATATATATATTTAAAT ATAAGTATATATATAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NME4_chr16_392199_405754	397709	T T	TGAGGGAG others(747): Show TGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGGGGGGGGT CGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGG GGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGT GGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGG GAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGA GTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGCG GGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGGGGGTGAGGGAGTCAGG GGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGG GGGTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0004 a0006c0011t0004	a0006c0011t0004g0284 a0006c0011t0004g0284	1	356	0.0028	754	c.91+ others(767): Show c.91+397_91+398insAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAG GGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTG GGGGTGGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGGGGGGGGTCGGGGAGTGGGGGGTGGGGGTGGAGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGTGGGGGGGTGAGGGAGTCGGGGAGTGGGGG GTGGGGGTGGAGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGT GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGCGGGTGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGT GGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGGGG GGGTGAGGGAGTCAGGGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTG GGGGTGGGGGTGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGA GGGAGTTGGGGGGTGGGGGTGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOP14_chr4_2932936_2968406	2961219	T T	TAGTAACT others(747): Show TAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATAT TAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAG TTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTA ATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAA CTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATA ATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGT ATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATA TAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAAT AATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAG TATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATAT ATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTAT ATTAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0271 a0002c0002t0001g0271	1	422	0.0024	754	c.195 others(771): Show c.195+1905_195+1906insTTAATATAGTTACTATATATTAATATAC TAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATTA TTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTT ACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATTA ATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAACT ATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAAT ATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTAT ATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATATA CTAACTATATTATTAATATAGTTACTATATATTAATATACTAACTATATT ATTAATATAGTTACTATATATTAATATACTAACTATATTATTAATATAGT TACTATATATTAATATACTAACTATATTATTAATATAGTTACTATATATT AATATACTAACTATATTATTAATATAGTTACTATATATTAATATACTAAC TATATTATTAATATAGTTACTATATATTAATATACTAACTATATTATTAA TATAGTTACTATATATTAATATACTAACTATATTATTAATATAGTTACTA TATATTAATATACTAACTATATTATTAATATAGTTACTATATATTAATAT ATACTAACTATATTAATATAGTTACT	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	1/17			chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(747): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACACATATACATATATATGCATATGT GTGTATATATACATATACATATATATGCATATATATGTATATATATACAT ATATATGCATATATGTGTATACATATACATATATATGCATATATGTGTAT ATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACAC ATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATAT GTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	456	0.0022	754	c.31 others(765): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACACATATACA TATATATGCATATGTGTGTATATATACATATACATATATATGCATATATA TGTATATATATACATATATATGCATATATGTGTATACATATACATATATA TGCATATATGTGTATATATACACATATATATGTGTGTGTATATATATGTG TGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATA TATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
OPRPN_chr4_70392940_70415195	70413191	A A	ATGTATAT others(747): Show ATGTATATATATGTGTGTATATATACATATATGTATATGTATATGTGTAT ATATGCATATATGTATATGTATATGTGTATATATGCATATATGTATATGC ATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATAT ACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATAT GCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATAT ATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTAT ATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAT ATATACATATATATGTATATGCATATGTGTGTAAATATACATATATATGT ATATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGT ATATATACATATATATGTATATGCATATGTGTGTATATATACATATATAT GTATATGCATATGTGTGTATATATACACATATACATATATATGCATATGT GTGTATATATACATATACATATATATGCATATATGTGTATATATATACAT ATATATGCATATATGTGTATACATATACATATATATGCATATATGTGTAT ATATACACATATATATGTGTGTGTATATATATGTGTGTGTATATATACAC ATATATATGTGTGTGTATATATATGTGTGTGTATATATACACATATATAT GTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG03225.hp1 others(3): Show HG02451.hp1 HG02647.hp1 HG03225.hp1 HG03579.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	6	456	0.0132	754	c.31 others(765): Show c.3116_*3117insTGTATATATATGTGTGTATATATACATATATGTA TATGTATATGTGTATATATGCATATATGTATATGTATATGTGTATATATG CATATATGTATATGCATATGTGTGTATATATACATATATATGTATATGCA TATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATATA CATATATATGTATATGCATATGTGTGTATATATACATATATATGTATATG CATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTATATA TACATATATATGTATATGCATATGTGTGTATATATACATATATATGTATA TGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTAAA TATACATATATATGTATATGCATATGTGTGTATATATACATATATATGTA TATGCATATGTGTGTATATATACATATATATGTATATGCATATGTGTGTA TATATACATATATATGTATATGCATATGTGTGTATATATACACATATACA TATATATGCATATGTGTGTATATATACATATACATATATATGCATATATG TGTATATATATACATATATATGCATATATGTGTATACATATACATATATA TGCATATATGTGTATATATACACATATATATGTGTGTGTATATATATGTG TGTGTATATATACACATATATATGTGTGTGTATATATATGTGTGTGTATA TATACACATATATATGTGTG	OPRPN	ENSG00000171199.11	transcript	ENST00000399575.7	protein_coding		2997		chr4	TogoVar
PGAP6_chr16_365788_386978	370338	G G	GCTATCCC others(747): Show GCTATCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCAC TCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCGGC TCTCACCCCCTACCCCGGCCCCCGGCACTCACCCGCTACCCCTGCCCCCG GCACTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCC CGGCTCTCACCCTCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCC CCCGGCTCTCACCTCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGG CCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCC TGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCCTACC CCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTA CCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCACCCCC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCT CCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCACTCAC CCCCTACCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTC ACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0013 a0001c0001t0006g0013	1	376	0.0027	754	c.16 others(765): Show c.1648_*1649insGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG TGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGG TGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAG GGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC CGGGGTAGAGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGG GCCGGGGTAGGGGGTGAGTGCCGGGGGCAGGGGTAGCGGGTGAGTGCCGG GGGCCGGGGTAGGGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGTGCC GGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAGTG CCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCCGGGGTAGCGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTG AGAGCCGGGGGCAGGGATAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		449		chr16	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(747): Show GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCA CCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACAC CTGCA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	216	0.0046	754	c.106 others(771): Show c.1069-235_1069-234insCTACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLXNB2_chr22_50269979_50312646	50276322	G G	GCAGGGAG others(747): Show GCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGG GGCGCTGTGGGCACGGCCGTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGG GCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGA GGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGATGGAGCC ACAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCCACAGGGACGG GCGCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGC ACGGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGG GTGGAGCCACAGGGACCGGCGCTGTGGGCACCGCCCTGGGTGCAGCCGCA GGGAGGGGGCACTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGC GCTGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCACTGTGGGCA CAGCCGTGGGTGGAGCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGAT GGAGCGACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGG GAGGGGGCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCT GTGGGCATGGCCCTGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGG CCGTGGGTGCAGCCACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGG AGTGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0002 a0004c0082t0002	a0004c0082t0002g0238 a0004c0082t0002g0238	1	302	0.0033	754	c.533 others(771): Show c.5337+306_5337+307insTCACTCCATCCACGGCCATGCCCACAGC GCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGCGCCCCCTCCC TGCGGCTGCACCCAGGGCCATGCCCACAGCGCCGGTCCCTGTGGCTCCAC CCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCACGGCCGT GCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCACAGCGC CCGTCCCTGTGGCTCCACCCACGGCTGTGCCCACAGTGCCCCCTCCCTGT CACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCACCC ACGGCCGTGCCCACAGTGCCCCCTCCCTGCGGCTGCACCCAGGGCGGTGC CCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGCCC CCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGTCG CTCCATCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCACG GCCGTGCCCACAGCGCCCCCTCCCTGTGGCTCCATCCACGGCCGTGCCCA CAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCC TCCCTGCGGCTGCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGC TGCACCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACG GCCGTGCCCACAGCGCCCCCTCCCTG	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(747): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCG TGGGTGGAGCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCG ACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGG GCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGC ACCGCCCTGGGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGG GTGCAGCCACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGAC AGGGAGGGGGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGC GCTGTGGGCACAGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCAC GGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGT GGAGCCACAGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGG GAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGC TGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACG GCCGT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp2 HG02683.hp1 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0142 a0001c0002t0002g0231 a0001c0002t0002g0142 a0001c0002t0002g0231	2	302	0.0066	754	c.533 others(771): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCTGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PLXNB2_chr22_50269979_50312646	50276351	A A	AGGGTGCA others(747): Show AGGGTGCAGCCGCAGGGAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGC CGCAGGGAGGGGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGG GGGCGCTGTGGGCACGGCCGAGGGTGCAGCCGCAGGGAGGGGGCGCTGTG GGCACGGCCGTGGATGGAGCCACAGGGAGGGGGCGCTGTGGGCACGGCCG TGGGTGGAGCCACAGGGACGGGCGCTGTGGGCACGGCCGTGGATGGAGCG ACAGGGAGGGGCGCTGTGGGCACGGCCGTGGGTGGAGCGACAGGGAGGGG GCGCTGTGGGCAGGGCTGTGGGTGGAGCCACAGGGACCGGCGCTGTGGGC ACCGCCCTGGGTGCAGCCGCAGGGAGGGGGCACTGTGGGCACGGCCGTGG GTGCAGCCACAGGGAGGGGGCGCTGTGGGCATGGCCGTGGATGGAGTGAC AGGGAGGGGGCACTGTGGGCACAGCCGTGGGTGGAGCCACAGGGACGGGC GCTGTGGGCACGGCCGTGGATGGAGCGACAGGGAGGGGCGCTGTGGGCAC GGCCGTGGGTGGAGCGACAGGGAGGGGGCGCTGTGGGCAGGGCTGTGGGT GGAGCCACAGGGACCGGCGCTGTGGGCATGGCCCTGGGTGCAGCCGCAGG GAGGGGGCGCTGTGGGCACGGCCGTGGGTGCAGCCACAGGGAGGGGGCGC TGTGGGCATGGCCGTGGATGGAGTGACAGGGAGGGGGCGCTGTGGGCACG GCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0082 a0004c0004t0002g0082	1	302	0.0033	754	c.533 others(771): Show c.5337+277_5337+278insACGGCCGTGCCCACAGCGCCCCCTCCCT GTCACTCCATCCACGGCCATGCCCACAGCGCCCCCTCCCTGTGGCTGCAC CCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCAGGGCCAT GCCCACAGCGCCGGTCCCTGTGGCTCCACCCACAGCCCTGCCCACAGCGC CCCCTCCCTGTCGCTCCACCCACGGCCGTGCCCACAGCGCCCCTCCCTGT CGCTCCATCCACGGCCGTGCCCACAGCGCCCGTCCCTGTGGCTCCACCCA CGGCTGTGCCCACAGTGCCCCCTCCCTGTCACTCCATCCACGGCCATGCC CACAGCGCCCCCTCCCTGTGGCTGCACCCACGGCCGTGCCCACAGTGCCC CCTCCCTGCGGCTGCACCCAGGGCGGTGCCCACAGCGCCGGTCCCTGTGG CTCCACCCACAGCCCTGCCCACAGCGCCCCCTCCCTGTCGCTCCACCCAC GGCCGTGCCCACAGCGCCCCTCCCTGTCGCTCCATCCACGGCCGTGCCCA CAGCGCCCGTCCCTGTGGCTCCACCCACGGCCGTGCCCACAGCGCCCCCT CCCTGTGGCTCCATCCACGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCT GCACCCTCGGCCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCTCGG CCGTGCCCACAGCGCCCCCTCCCTGCGGCTGCACCCACGGCCGTGCCCAC AGCGCCCCCTCCCTGCGGCTGCACCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding	35/36			chr22	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAT others(747): Show AGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTGGTAGT TAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTATTTA GGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTA GTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATC ACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAG TTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTG GTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTAT AGTTG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0283 a0001c0003t0001g0283	1	286	0.0035	754	c.335 others(773): Show c.335-10972_335-10971insGGTCATGGTGGTAGTTAGGGTCGTGG TGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTATTTAGGGTCATGGTGGTAGTTAGGGTCATGGT GGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAG GGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAG TTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAC GGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCA TCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGT AGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATGG TGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRT_chr20_42067756_43194906	43068103	G G	GGAGGGAG others(747): Show GGAGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGG AGGAAGGAAGGGGAGGGAGGGGAGGAAGGAAGGGGAGGGAGGGGAGGAAG GAAGGACAGAGAGGAGGGAAGGAAGGAAGGGCAGAGACGAGGGAAGGAAG GAAGGGCAGAGAGGAGGGAAGGAAGGGGTGAGAGGAGGGAAGGAAGGGGG GAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGGAGAGGAGA GAAGGAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAAGCG GGGAGAGGAGGGAAGGAAGCGGGGAGAGGAGGGAAGGAAGGGGGGAGAGG AGGGAAGCAAGGGGGAGAGGAGGGAAGGAAGGGGGAGAGGAGGGAAGGAA GGGGGAGAGGAGGAAAAGAAGGGGGAGAGGAGGAAAGGAAGGTGGGAGAG GAGGAAAGGAAGGGGGAGAGGAGGAAAGGAAGGGGGGAGAGGAGGAAAGG AAGGGGGGAGAGGAGGAAAGGAAGGGGGAGAGGGAGGGAGGAAGGGGGAG AGGGAGGGAGGAAGGGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGCA AGCAAGCAAGCAAAGCTGCTCAGAAGCTAACTTCAGGAAGAAGGGAGGGA AGCTAACTTCAGAAGCTAACTTCAGGAGGGAGGGAAGGAAGGAAGGGAAG AAGGAGGGAAGGGAGGTAGGAAGGAGGGAGGGAAGGGAGGAAGGGAGGAG GGAAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02976.hp2 HG02809.hp1 HG02976.hp2	a0001 a0009 a0001 a0009	a0001c0002 a0009c0019 a0001c0002 a0009c0019	a0001c0002t0006 a0009c0019t0008 a0001c0002t0006 a0009c0019t0008	a0001c0002t0006g0039 a0009c0019t0008g0050 a0001c0002t0006g0039 a0009c0019t0008g0050	2	62	0.0323	754	c.88+ others(773): Show c.88+121542_88+121543insTTTCCCTCCTCCCTTCCTCCCTTCCC TCCCTCCTTCCTACCTCCCTTCCCTCCTTCTTCCCTTCCTTCCTTCCCTC CCTCCTGAAGTTAGCTTCTGAAGTTAGCTTCCCTCCCTTCTTCCTGAAGT TAGCTTCTGAGCAGCTTTGCTTGCTTGCTTGCTTCCTTCCTTCCTTCCTC CCTCCCTCCCTCCCCCTTCCTCCCTCCCTCTCCCCCTTCCTCCCTCCCTC TCCCCCTTCCTTTCCTCCTCTCCCCCCTTCCTTTCCTCCTCTCCCCCCTT CCTTTCCTCCTCTCCCCCTTCCTTTCCTCCTCTCCCACCTTCCTTTCCTC CTCTCCCCCTTCTTTTCCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCT TCCTTCCCTCCTCTCCCCCTTGCTTCCCTCCTCTCCCCCCTTCCTTCCCT CCTCTCCCCGCTTCCTTCCCTCCTCTCCCCGCTTCCTTCCCTCCTCTCCC CCTTCCTTCCCTCCTCTCCCCCTTCCTTCTCTCCTCTCCCCCCTTCCTTC CCTCCTCTCCCCCTTCCTTCCCTCCTCTCCCCCCTTCCTTCCCTCCTCTC ACCCCTTCCTTCCCTCCTCTCTGCCCTTCCTTCCTTCCCTCGTCTCTGCC CTTCCTTCCTTCCCTCCTCTCTGTCCTTCCTTCCTCCCCTCCCTCCCCTT CCTTCCTCCCCTCCCTCCCCTTCCTTCCTCCCCTCCCTCCCCTTCCTTCC TCCCCTCCCTCCCCTTCCTTCCTCCCTC	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(747): Show GTGATGATGGTGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGT GGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTG GTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGG TGGTGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTG GTGGTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGAT GATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGG TGGTGATAATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATG ATGGTGATGGTGATGATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGT GGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0042 a0002c0003t0001g0042	1	374	0.0027	754	c.-46 others(765): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGGTGGTGGT GATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGAT GGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGG TGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGG TAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTG ATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGT GATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGA TGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGTA ATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAGT GGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132392588	G G	GTGGTGGT others(747): Show GTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGT GATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGT AGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGG TGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTG ATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGAGTGATGGTGG TGGTGGTGATAATGGTGATGGTGGTGGTGGTTGGTAATGGTGATGGTGGA TGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGATGTGATGA TGGTGCATGGTGATGGTAGTGGTGATGGGGGGTGGTGGTAATGATGATGG TGATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATG GTGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGAAGGTGATGAT GGTGATGTGATAATGGTGATGGTGATGGGTGTGGTGATGGGAGGTGGTGG TAATGGTGATGATGGTGATGGTGATGGTGGATGGTGGGTTATGGTGATGG TGATACTGGTGATGGTGACTGGTGGTGATGGTGATGGTGATGGTGAGTGG TGATCGGGGATGGTGGTCAGGTGATGGGATGGTGATGTAGATGGATGGAT GAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0001 a0015c0019t0001	a0015c0019t0001g0001 a0015c0019t0001g0001	1	374	0.0027	754	c.-46 others(765): Show c.-4639_-4638insTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGT GGTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAAT GGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGG TGATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTG GTAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGT GATGAGTGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTTGGT AATGGTGATGGTGGATGATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGATGTGATGATGGTGCATGGTGATGGTAGTGGTGATGGGGGGTGG TGGTAATGATGATGGTGATGGTGATGATGGTGATGATGATGGTGGTGGTG GTGATAATGGTGATGGTGGTGATGGTGGTGGTAATGGTGATGGTGATGAT GGTGAAGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGGTGTGGT GATGGGAGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGATGGT GGGTTATGGTGATGGTGATACTGGTGATGGTGACTGGTGGTGATGGTGAT GGTGATGGTGAGTGGTGATCGGGGATGGTGGTCAGGTGATGGGATGGTGA TGTAGATGGATGGATGAGGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4611		chr10	TogoVar

Search by Variant

Search

Search Results