Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(226): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG AGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGA GGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGGG CGGGGGGGAGGGGATGGGCGGGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	364	0.0028	233	c.-20 others(242): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAG GGGCGGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGG GAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGGGAGGGGA		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(226): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGGGGAGGGGATGGGG GCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	364	0.0028	233	c.-20 others(242): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGA GGGGCGGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGCGG GGAGGGGATGGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(226): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGG GAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGGATGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGG GCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0002 a0002c0007t0002	a0002c0007t0002g0134 a0002c0007t0002g0134	1	364	0.0028	233	c.-20 others(242): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGC GGGGTGGGGGGGGGAGGGGGAGGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGGGCGGGG GGGAGGGGAGGGGGCGGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019220	C C	CGGGGGGC others(226): Show CGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGT GGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGG GGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGG AGGGATGGGGGCGGGGGGGGAGGGGAGGGGGGCGGCGGGGAGGGGATGGG GGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	364	0.0028	233	c.-20 others(242): Show c.-204_-203insGGGGGGCGGGGGGAGGAGAGGGGGGAGAGGGGAGGG GACCGGGTAGGGTGGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCG CGGGGTGGGGGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGG AGGGGCGGGGGGGAGGGATGGGGGCGGGGGGGGAGGGGAGGGGGGCGGCG GGGAGGGGATGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGAGGGGA		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					124		chr1	TogoVar
GABRD_chr1_2014345_2035758	2019227	C C	CGGGGGGA others(226): Show CGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGGTAGGGTGGGGGGG GAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGGGGGGGGAGGGGGA GGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGGGGGGGAGGGGATG GGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGATGGGGGCGGGGGG GAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	364	0.0028	233	c.-19 others(242): Show c.-197_-196insGGGGGGAGGAGAGGGGGGAGAGGGGAGGGGACCGGG TAGGGTGGGGGGGGAGGGGAACGGGGAGGGGAGCGGCGGGCGCGGGGTGG GGGGGGAGGGGGAGGGGGGAGGGGAGAAGACGGGCAGCGGGAGGGGCGGG GGGGGAGGGGATGGGGGCGGGGGGGAGGGGAGGGGGCGGGGGGGAGGGGA TGGGGGCGGGGGGGAGGGGATGGGCGGGGGGGGAGGGGAGGGGGGCG		GABRD	ENSG00000187730.9	transcript	ENST00000378585.7	protein_coding					117		chr1	TogoVar
GAL3ST2_chr2_241771822_241809287	241807023	A A	ACCCTCCC others(226): Show ACCCTCCCTCCCTCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAG GGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	314	0.0032	233	c.28 others(244): Show c.2857_*2858insCCCTCCCTCCCTCCTCAGCCCAGGAACCTCCGCA GGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCC TCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCTTCCCTCCCCCTCAACCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCT		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					2737		chr2	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440317	A A	ATCCCGCA others(226): Show ATCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACA TCTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTG CTCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCCGCCCCCACA TCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCC TGCTCCCATATCTTCTCCTCCTGCTCCTGCATCT	frameshift_variant frameshift_variant	HIGH	HG03209.hp2 HG03209.hp2	a0026 a0026	a0026c0040 a0026c0040	a0026c0040t0022 a0026c0040t0022	a0026c0040t0022g0125 a0026c0040t0022g0125	1	396	0.0025	233	c.215 others(242): Show c.2157_2158insAGATGCAGGAGCAGGAGGAGAAGATATGGGAGCAGG AGAAGATGCGGGACCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATG TGGGGGCGGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGCGGGAGCA GGAAGATGTGGAGACAGGAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATG TGGGAGCAGGAGGAGAAGATGCGGAAGCAGGAGGAGAAGATGCGGGA	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2219/3499	2157/2730	719/909			chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23440317	A A	ATCCCGCA others(226): Show ATCCCGCATCTTCTCCTCCTGCTTCCGCATCTTCTCCTCCTGCTCCCACA TCTGCTTCTCCTGCTCCTGCAGCCTCTCCTCCTGTCTCCACATCTTCCTG CTCCCGCATCTTCTCCTCCTGCCCCCACATCTTCTCCTCCTGCCCCCACA TCTTCTCCTCCTGGCCCCACATCTTCTCCTCCTGGTCCCGCATCTTCTCC TGCTCCCATATCTTCTCCTCCTGCTCCTGCATCT	frameshift_variant frameshift_variant	HIGH	HG02258.hp2 HG02615.hp1 HG02717.hp2 others(14): Show HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03516.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA19240.hp1	a0002 a0009 a0027 a0002 a0009 a0027	a0002c0008 a0002c0011 a0002c0041 others(2): Show a0002c0008 a0002c0011 a0002c0041 a0009c0021 a0027c0039	a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 others(5): Show a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0009c0021t0014 a0027c0039t0007	a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 others(7): Show a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0009c0021t0014g0056 a0009c0021t0014g0057 a0027c0039t0007g0124	17	396	0.0429	233	c.215 others(242): Show c.2157_2158insAGATGCAGGAGCAGGAGGAGAAGATATGGGAGCAGG AGAAGATGCGGGACCAGGAGGAGAAGATGTGGGGCCAGGAGGAGAAGATG TGGGGGCAGGAGGAGAAGATGTGGGGGCAGGAGGAGAAGATGCGGGAGCA GGAAGATGTGGAGACAGGAGGAGAGGCTGCAGGAGCAGGAGAAGCAGATG TGGGAGCAGGAGGAGAAGATGCGGAAGCAGGAGGAGAAGATGCGGGA	p.Ser others(5): Show p.Ser720fs	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2219/3499	2157/2730	719/909			chr15	TogoVar
GPIHBP1_chr8_143208218_143222170	143218268	A A	ACACCATC others(226): Show ACACCATCCCCAACACCCCAATAACCCCCCAACACCACCCCAACACCACC CCCAATACCACCCCCACCACCCCCAACACCATCCCCAACACCACCCCAAC ACCACCCAACACCATCCCCCACACCACCCCCAACACCACCCCCACACCGC CCACACACCAGCCCCAACACCACCCCCAACACCAGCCCCAACACCACCCC AATACCTCCCCAACACCACCCCCACCACCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03225.hp1 HG02280.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0002 a0001c0003t0005g0018 a0001c0003t0005g0002 a0001c0003t0005g0018	2	106	0.0189	233	c.27 others(244): Show c.2750_*2751insCACCATCCCCAACACCCCAATAACCCCCCAACAC CACCCCAACACCACCCCCAATACCACCCCCACCACCCCCAACACCATCCC CAACACCACCCCAACACCACCCAACACCATCCCCCACACCACCCCCAACA CCACCCCCACACCGCCCACACACCAGCCCCAACACCACCCCCAACACCAG CCCCAACACCACCCCAATACCTCCCCAACACCACCCCCACCACCACCCC		GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding					1099		chr8	TogoVar
GPR137B_chr1_236137539_236213907	236186223	A A	AATATATA others(226): Show AATATATATAATAATATAAATAATATATAATATATATTATATATAATAAT ATAAATAATATATAATATATATTATATATAATAATATAAATAATATATAA TATATATTATATATAATAATATAAATAATATATAATATATATTATATATA ATAATATAAATAATATATAATATATATTATATATAATAATATAAATAATA TATAATATATATTATATATAATAATATAAATAAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	386	0.0026	233	c.966 others(250): Show c.966+2322_966+2323insTATAATAATATAAATAATATATAATATA TATTATATATAATAATATAAATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATTATATATAATAATATAAATAATATATAATATATATTATATAT AATAATATAAATAATATATAATATATATTATATATAATAATATAAATAAT ATATA		GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
GPR35_chr2_240620480_240638159	240626003	T T	TGGGGGTC others(226): Show TGGGGGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTCTCAGAGCGGGGCG AGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGA GCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTGTGACGGG GTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCT CTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	400	0.0025	233	c.-5+ others(246): Show c.-5+439_-5+440insGTCTCAGAGTGGGGTGAAGCTCTGATGGGGTC TCAGAGCGGGGCGAGGCTGTGAGGGGTTCTCAGAGCGGGGCGAGGCTGTG AGGGGTTCTCAGAGCGGGGCGAGGCTGTGACGGGGTCTCAGAGCGGGGCG AGGCTGTGACGGGGTCTCAGAGCGGGGCGAGGCTCTGACGGGGTCTCAGA GCGGGGTGAGGCTCTGACGGGGTCTCAGAGCGGGGTGAGGCTCTGACGGG G		GPR35	ENSG00000178623.13	transcript	ENST00000407714.2	protein_coding	1/1					INFO_REALIGN_3_PRIME	chr2	TogoVar
GSE1_chr16_85608322_85681200	85653201	C C	CCCTCCCC others(226): Show CCCTCCCCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCACTCCTC CCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCT CCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCC CCCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CCCCCTCCTCCTCCTCCTCCCCTCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0081 a0001c0002t0005g0081	1	290	0.0035	233	c.427 others(250): Show c.427-1072_427-1071insCCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCACTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCC CCCTCCCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCTC CCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCTCTCCTCCTCCT CCTCC		GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15					INFO_REALIGN_3_PRIME	chr16	TogoVar
IL19_chr1_206765773_206847981	206781970	T T	TAGTTATA others(226): Show TAGTTATATATACATATATATGTATATAGTTATATATACATATATATGTA TATAGTTATATATACATATATATGTATATAGTTATATATACATATATATG TATATAGTTATATATACATATATATGTATATAGTTATATATACATATATA TGTATATAGTTATATATACATATATATGTATATGTTATATATACATATAT ATGTATATGTTATATATACATATATATGTATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	366	0.0027	233	c.-14 others(254): Show c.-149+10892_-149+10893insAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATAGTTATATATACATATATAT GTATATAGTTATATATACATATATATGTATATAGTTATATATACATATAT ATGTATATGTTATATATACATATATATGTATATGTTATATATACATATAT ATGTATATA		IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6						chr1	TogoVar
IQCJ_chr3_159064319_159268747	159229783	C C	CCCCCTCC others(226): Show CCCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCTGT CTTCCTCCCCACCTCCCCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCCAC CTCCCCCCTCCTCCCACTCCTCCTCCCCGTCTTCCTCCCCCACCTCCCCC CTCCTCCCACTCCTCCTCCCCCTCCTCCTCCCCA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	252	0.0040	233	c.10- others(250): Show c.10-16060_10-16059insCCCCTCCCCCCTCCTCCCCCTCCTCCTC CCCCCTCCCCCCTCCTCCTCCCCCCTCCCCCCTCCTCCCCCTCCTCCTCC CCCCTCCCCCCTCCTCCCTGTCTTCCTCCCCACCTCCCCCCTCCCCCCTC CTCCCTGTCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCG TCTTCCTCCCCCACCTCCCCCCTCCTCCCACTCCTCCTCCCCCTCCTCCT CCCCA		IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3						chr3	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(226): Show AATATATATATGATATATATATGAAATATATATATCATATATGAAATATA TATATGATATATGAAATATATATATGATATATGAAATATATATATGATAT ATGAAATATATATATGATATATGAAATATATATATGATATATATATGAAA TATATATATGATATATATATGAAATATATATATGATATATATATGAAATA TATATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	344	0.0058	233	c.25- others(248): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATCATA TATGAAATATATATATGATATATGAAATATATATATGATATATGAAATAT ATATATGATATATGAAATATATATATGATATATGAAATATATATATGATA TATATATGAAATATATATATGATATATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATATGAAATATATATATGATATATA TAT		IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
ITGB2_chr21_44880953_44925899	44918939	G G	ATCCCCTC others(226): Show ATCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGG AGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCA GCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCATTCC CCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCT GAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(70): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00639.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01952.hp2 HG02004.hp1 HG02083.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02258.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03195.hp1 HG03453.hp2 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18979.hp1 NA18984.hp1 NA18987.hp1 NA18992.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp2 NA19058.hp2 NA19070.hp1 NA19080.hp1 NA19083.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0012 a0001c0014 a0001c0015 a0001c0017 a0001c0018 a0001c0020 a0001c0025 a0001c0029 a0001c0040 a0004c0038 a0008c0027	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0001 a0001c0002t0003 a0001c0003t0002 a0001c0003t0006 a0001c0004t0001 a0001c0005t0002 a0001c0006t0001 a0001c0007t0001 a0001c0007t0003 a0001c0007t0004 a0001c0008t0003 a0001c0009t0001 a0001c0010t0001 a0001c0012t0004 a0001c0014t0002 a0001c0015t0001 a0001c0015t0003 a0001c0017t0001 a0001c0018t0005 a0001c0020t0004 a0001c0020t0007 a0001c0025t0004 a0001c0029t0004 a0001c0040t0002 a0004c0038t0002 a0008c0027t0001	a0001c0001t0001g0012 a0001c0001t0001g0215 a0001c0001t0001g0220 others(67): Show a0001c0001t0001g0012 a0001c0001t0001g0215 a0001c0001t0001g0220 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0002g0218 a0001c0001t0002g0253 a0001c0001t0003g0229 a0001c0001t0003g0255 a0001c0001t0003g0266 a0001c0001t0003g0398 a0001c0001t0003g0416 a0001c0001t0003g0417 a0001c0001t0004g0013 a0001c0001t0004g0231 a0001c0001t0008g0226 a0001c0002t0001g0212 a0001c0002t0001g0228 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0003g0268 a0001c0003t0002g0241 a0001c0003t0002g0258 a0001c0003t0002g0413 a0001c0003t0002g0414 a0001c0003t0006g0217 a0001c0004t0001g0216 a0001c0004t0001g0225 a0001c0004t0001g0247 a0001c0004t0001g0256 a0001c0004t0001g0259 a0001c0004t0001g0262 a0001c0005t0002g0213 a0001c0005t0002g0214 a0001c0005t0002g0274 a0001c0006t0001g0011 a0001c0007t0001g0245 a0001c0007t0001g0273 a0001c0007t0003g0224 a0001c0007t0003g0248 a0001c0007t0004g0227 a0001c0008t0003g0272 a0001c0009t0001g0219 a0001c0010t0001g0260 a0001c0012t0004g0236 a0001c0012t0004g0242 a0001c0012t0004g0264 a0001c0014t0002g0261 a0001c0015t0001g0267 a0001c0015t0003g0221 a0001c0017t0001g0208 a0001c0018t0005g0222 a0001c0020t0004g0207 a0001c0020t0007g0239 a0001c0025t0004g0235 a0001c0029t0004g0230 a0001c0040t0002g0223 a0004c0038t0002g0237 a0008c0027t0001g0238	73	444	0.1644	233	c.-4+ others(248): Show c.-4+1882_-4+1883insGCTCAGCTCCGAGTGCTGGGAGAGGGGACG CTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAG AGGGGAATGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAG TGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCA GCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGG GAT		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15						chr21	TogoVar
ITGB2_chr21_44880953_44925899	44918954	A A	ACTCGGAG others(226): Show ACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCT CTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAG CGTCCCCTCTCCCAGCACTCGGAGCTGAGCATTCCCCTCTCCCAGCACTC GGAGCTGAGCGTCCCCTCTCCCAGCACTCGGAGCTGAGCGTCCCCTCTCC CAGCACTCGGAGCTGAGCGTCCCCTCTCCCAGCG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0209 a0001c0003t0001g0209	1	444	0.0023	233	c.-4+ others(248): Show c.-4+1866_-4+1867insCGCTGGGAGAGGGGACGCTCAGCTCCGAGT GCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAG CTCCGAGTGCTGGGAGAGGGGAATGCTCAGCTCCGAGTGCTGGGAGAGGG GACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCCGAGTGCTG GGAGAGGGGACGCTCAGCTCCGAGTGCTGGGAGAGGGGACGCTCAGCTCC GAG		ITGB2	ENSG00000160255.19	transcript	ENST00000652462.1	protein_coding	1/15						chr21	TogoVar
KCNMB2_chr3_178531436_178849429	178758772	T T	TATATATA others(226): Show TATATATATATATCTCCTCTAGGAGAGATATATATATATATATATATATC TCCAAGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAG AGGAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19091.hp2 NA19081.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0043 a0001c0002t0001g0152 a0001c0002t0001g0043 a0001c0002t0001g0152	2	232	0.0086	233	c.-67 others(252): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATAT ATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATATA TATATAT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KDM4B_chr19_4964113_5158598	5131575	G G	GGGGGGCA others(226): Show GGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGG GGAGCTGGTGGCGGGGGAGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTG GGGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGG AGGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGG AGGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02647.hp2 others(5): Show HG02486.hp1 HG02486.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 HG03471.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0009 a0002c0005t0002 a0001c0001t0001 a0001c0001t0009 a0002c0005t0002	a0001c0001t0001g0256 a0001c0001t0009g0021 a0001c0001t0009g0023 others(5): Show a0001c0001t0001g0256 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0009g0025 a0001c0001t0009g0026 a0001c0001t0009g0028 a0001c0001t0009g0029 a0002c0005t0002g0024	8	270	0.0296	233	c.178 others(250): Show c.1785+102_1785+103insGCAGGGAGGAGGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGGGCAGGGAGGAGGGGGGCAGGTGGGGTGGAGCGGGGGAGGCAGGGA GGAGGGGGGCAGGTGGGGTGGGGCAGGGGAGGAGGGGGCAGGTGGGGTGG GGCAGGGGAGGAGGGGGCAGGTGGGGCACAGGGGAGCTGGTGGCGGGGGA GGGGG		KDM4B	ENSG00000127663.15	transcript	ENST00000159111.9	protein_coding	12/22					INFO_REALIGN_3_PRIME	chr19	TogoVar
LHFPL3_chr7_104323603_104913561	104824294	T T	TAATATAT others(226): Show TAATATATAATATATAATATATAATATATATAATATATTATATATAATAT ATAATATATAATATATATAATATATTATATATAATATATAATATATAATA TATATTATATATATAATATATTATATAATATATAATATATATTATATATA TAATATATTATATAATATATTATATATATAATATATATTATATATTATAT ACAATATATTATATATTATATACATTATATATTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02965.hp1 HG02451.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0010 a0001c0001t0006 a0001c0002t0010	a0001c0001t0006g0014 a0001c0002t0010g0017 a0001c0001t0006g0014 a0001c0002t0010g0017	2	86	0.0233	233	c.683 others(252): Show c.683-81893_683-81892insAATATATAATATATAATATATAATAT ATATAATATATTATATATAATATATAATATATAATATATATAATATATTA TATATAATATATAATATATAATATATATTATATATATAATATATTATATA ATATATAATATATATTATATATATAATATATTATATAATATATTATATAT ATAATATATATTATATATTATATACAATATATTATATATTATATACATTA TATATTA		LHFPL3	ENSG00000187416.13	transcript	ENST00000424859.7	protein_coding	2/2						chr7	TogoVar
LMF1_chr16_848634_975984	859965	A A	ATGGATGG others(226): Show ATGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGATGTCACGG GATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGCAGTGAGGTCACGGGATGGGTGTGTGTGGTGTCTCGGGATGGGT GTGAGTGGTGTCACGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTG CAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01168.hp1 HG02055.hp2 others(3): Show HG01069.hp1 HG01168.hp1 HG02055.hp2 HG02622.hp1 HG03225.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0008 others(2): Show a0001c0002 a0001c0006 a0001c0008 a0001c0020 a0001c0023	a0001c0002t0002 a0001c0006t0001 a0001c0006t0002 others(3): Show a0001c0002t0002 a0001c0006t0001 a0001c0006t0002 a0001c0008t0002 a0001c0020t0001 a0001c0023t0001	a0001c0002t0002g0291 a0001c0006t0001g0290 a0001c0006t0002g0282 others(3): Show a0001c0002t0002g0291 a0001c0006t0001g0290 a0001c0006t0002g0282 a0001c0008t0002g0071 a0001c0020t0001g0100 a0001c0023t0001g0244	6	294	0.0204	233	c.153 others(252): Show c.1530-5260_1530-5259insAGACACCACTCACACCCATCCCGAGA CACCACTGCACACCCATCCCGAGACACCACTGCACACCCATCCCGTGACA CCACTCACACCCATCCCGAGACACCACACACACCCATCCCGTGACCTCAC TGCACACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCA CACCCATCCCGTGACATCACTGCACACCCATCCCGAGACACCACTCACAC CCATCCA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(226): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCAGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	414	0.0024	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCTGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCC others(226): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01515.hp2 others(6): Show HG00735.hp1 HG00735.hp2 HG01515.hp2 HG01943.hp1 HG02083.hp2 HG02970.hp2 NA18612.hp1 NA18970.hp1 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0001t0001 a0001c0002t0001 a0001c0007t0001	a0001c0001t0001g0034 a0001c0001t0001g0260 a0001c0001t0001g0261 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0002t0001g0315 a0001c0007t0001g0166	9	414	0.0217	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02027.hp2 HG02523.hp1 others(3): Show HG01981.hp1 HG02027.hp2 HG02523.hp1 NA18966.hp1 NA18973.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0020 a0001c0001 a0001c0020	a0001c0001t0001 a0001c0020t0001 a0001c0001t0001 a0001c0020t0001	a0001c0001t0001g0012 a0001c0001t0001g0252 a0001c0001t0001g0253 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0020t0001g0202	6	414	0.0145	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG01928.hp1 others(9): Show HG00323.hp2 HG00544.hp2 HG01928.hp1 HG01993.hp1 HG02273.hp1 HG02273.hp2 HG03017.hp2 NA18952.hp1 NA18955.hp2 NA18999.hp1 NA19004.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0243 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0273 a0001c0001t0003g0092	12	414	0.0290	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19064.hp2 HG01069.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0314 a0001c0002t0001g0112 a0001c0002t0001g0314	2	414	0.0048	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGG CACTGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCG GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCGG others(226): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0001 a0001c0039t0001	a0001c0039t0001g0204 a0001c0039t0001g0204	1	414	0.0024	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCGG others(226): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCTGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	414	0.0024	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCAGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCC GGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
LMF2_chr22_50497949_50512702	50504238	C C	CCCCCCGG others(226): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0297 a0001c0002t0001g0297	1	414	0.0024	233	c.171 others(250): Show c.1718+101_1718+102insAGGGGGGGTGTGGAGCCCGGGGTGCAGG GGTAAGGCCGGGCACCGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGG CCGGGCACCGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGC CGGGCACCGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCG GGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGG		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13						chr22	TogoVar
MAEA_chr4_1284891_1345137	1334105	C C	CGTGTGCT others(226): Show CGTGTGCTCACCCCCCTGCCCACCCCCATGCCCGTGCTCACCTCTGCACC CACCCCATGCCCACCCCCATGCCCACCTGTGCTCACTCCCGTGCCCATGT GCCCACCCCTGCACCCACCCCCATGCCCGTGTGCTCACCCCCATGCCCAC CCCATGCCCACCATGTGCTCACCCCTGCACCCACCCCCGTGCCCACCATG TGCCCACCCCTGCATCCACCCCCATGCCCACCGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	388	0.0026	233	c.765 others(250): Show c.765+1243_765+1244insTGCTCACCCCCCTGCCCACCCCCATGCC CGTGCTCACCTCTGCACCCACCCCATGCCCACCCCCATGCCCACCTGTGC TCACTCCCGTGCCCATGTGCCCACCCCTGCACCCACCCCCATGCCCGTGT GCTCACCCCCATGCCCACCCCATGCCCACCATGTGCTCACCCCTGCACCC ACCCCCGTGCCCACCATGTGCCCACCCCTGCATCCACCCCCATGCCCACC GTGTG		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(226): Show AGGGGGGAGGGGGGAGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGAG GGGGGAGGGGGGAGGGGGGGAGAGGGGAGAGGGGGGGAGGGGGGAGAGGG GAGAGGGGGGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGAGG GGGGAGGGGGGGAGAGGGGGGAGGGGGGGAGAGGGGGGAGGGGGGAGGGG GGAGGGGGGGGAGAGGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	163	0.0061	233	c.525 others(250): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCCTCTCCCCC CCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCCCC CCTCTCCCCTCTCCCCCCTCCCCCCCTCTCCCCTCTCCCCCCCTCCCCCC TCCCCCCTCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCTCCCCCCTC CCCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MARCHF1_chr4_163519718_164389019	163836594	T T	TAAAAGAT others(226): Show TAAAAGATGCCTCCTAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGTGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCG GAGATCGCGCCACAGCACTCCAGCCTGGGCGACAAAACGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02280.hp2 HG01071.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0021 a0001c0002t0003g0001 a0001c0001t0005g0021 a0001c0002t0003g0001	2	102	0.0196	233	c.111 others(252): Show c.111+17426_111+17427insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGTTTTGTCGCCCAGGCTGGAGTGCTGTGGC GCGATCTCCGCTCACTGCAAGCTCCGCCTTCCGGGTTCACACCATTCTCC TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTAGGAGGC ATCTTTT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	4/9						chr4	TogoVar
METRNL_chr17_83074609_83100122	83090386	C C	CCCCCCAC others(226): Show CCCCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACAC ACACCCCGCCCCACACACACACCCCCCGCCCCACACACACACACACCCCC CCCCACACACACCCCGCCCCACACACACACCCCCCGCCCCACACACACAC CCCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCC ACACACACACACACCCCCCCCCACACACACCCCG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0106 a0001c0001t0004g0106	1	399	0.0025	233	c.557 others(250): Show c.557-2777_557-2776insCACACACACCCCGCCCCACACACACACC CCCCGCCCCACACACACACACCCCGCCCCACACACACACCCCCCGCCCCA CACACACACACACCCCCCCCCACACACACCCCGCCCCACACACACACCCC CCGCCCCACACACACACCCCCCGCCCCACACACACACACCCCGCCCCACA CACACACCCCCCGCCCCACACACACACACACCCCCCCCCACACACACCCC GCCCC		METRNL	ENSG00000176845.13	transcript	ENST00000320095.12	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr17	TogoVar
MLC1_chr22_50054391_50090426	50063781	C C	CCCCCCAT others(226): Show CCCCCCATGGGCCACTCACCTCCCCCAGCACCTGCACCGCAGGCCACTCA CCTCCCCAGCTGGGCACCCCTGTGGGCCACTCACCTCCCCAGCGCCCCCA CCCCACAGGCTTCTCACGCTCCCTGGCTGGGCTCCCCCGTGGGCCACTCA CCTCCCCAGCGCCCCCACCGCAGGCCACTCACCTCCCCAGCGACCACCCC CACCCCACAGGCCACTCACCTCCCCGGCTGGGCA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	212	0.0047	233	c.105 others(250): Show c.1059+252_1059+253insTGCCCAGCCGGGGAGGTGAGTGGCCTGT GGGGTGGGGGTGGTCGCTGGGGAGGTGAGTGGCCTGCGGTGGGGGCGCTG GGGAGGTGAGTGGCCCACGGGGGAGCCCAGCCAGGGAGCGTGAGAAGCCT GTGGGGTGGGGGCGCTGGGGAGGTGAGTGGCCCACAGGGGTGCCCAGCTG GGGAGGTGAGTGGCCTGCGGTGCAGGTGCTGGGGGAGGTGAGTGGCCCAT GGGGG		MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	11/11						chr22	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTTTT others(226): Show TGTGTTTTCTGAGCCAGGGTCTCTTTCTGTTGCCCCAGGCTGGAGTGCAG TGGTGCGATCTTGGCTCACTGCAGCCTCTGCCTCCCGGGTTCAAGCAATT CTCCTGCATTATTTATTTGACCCAAGCATATTTTTTTCTGTTCAGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0147 a0001c0003t0005g0147	1	422	0.0024	233	c.670 others(248): Show c.670+788_670+789insTGTTTTCTGAGCCAGGGTCTCTTTCTGTTG CCCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAGCCTCTGCC TCCCGGGTTCAAGCAATTCTCCTGCATTATTTATTTGACCCAAGCATATT TTTTTCTGTTCAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCC AGG		MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
MSH4_chr1_75791882_75918242	75886347	T T	TAGCATGT others(226): Show TAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATA TGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGC ATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATATATGAT GTATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGT ATAGTATATATGATGTATTATATATAGTGTATAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02738.hp1 HG03688.hp1 others(2): Show HG01069.hp1 HG02738.hp1 HG03688.hp1 HG04228.hp2 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0322 others(2): Show a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0322 a0002c0003t0001g0097 a0002c0003t0001g0123	5	332	0.0151	233	c.210 others(252): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATAT ATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAG TGTATAG		MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19						chr1	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(226): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCT CCCCTCTCCCTCCCTTCCCCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0222 a0001c0001t0010g0222	1	223	0.0045	233	c.289 others(250): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCC CTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCTTCCCCTCCCCTCTCCC TCCCC		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
NAALADL2_chr3_174854334_175815548	175013199	T T	TTTATATA others(226): Show TTTATATATAAATATGTAATATATATTTATATATAAATATGTAAAATATA TTTATATATAAATATATATACATAAATATATAATATATATTTATATATAA ATATATATACATAAATATATAATATATATTTATATATAAATATATATACA TAAATATATAATATATATTTATATATAAATATATATACATAAATATATAA TATATATTTATATATAAATATAAACACATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp2 HG01884.hp1 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0013 a0002c0005 a0001c0013 a0002c0005	a0001c0013t0013 a0002c0005t0005 a0001c0013t0013 a0002c0005t0005	a0001c0013t0013g0018 a0002c0005t0005g0009 a0001c0013t0013g0018 a0002c0005t0005g0009	2	64	0.0313	233	c.44- others(250): Show c.44-83591_44-83590insTTATATATAAATATGTAATATATATTTA TATATAAATATGTAAAATATATTTATATATAAATATATATACATAAATAT ATAATATATATTTATATATAAATATATATACATAAATATATAATATATAT TTATATATAAATATATATACATAAATATATAATATATATTTATATATAAA TATATATACATAAATATATAATATATATTTATATATAAATATAAACACAT ATATA		NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	1/13						chr3	TogoVar
NCAPG2_chr7_158626169_158709804	158667660	G G	GCCCTCCT others(226): Show GCCCTCCTTACCTACCCTGTGGCCCTCCACCCTCTTACCCACTACTGGGT CCCTCCGCCTTCCTTACCGACCCTGGGTCCCTCCGCCCCCCGTTACCCAC TACTGGGTCCCTCTGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCC TTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCT CCGCCCTCCCTTACCCACTACTGGGTCCCTCCGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0326	1	378	0.0027	233	c.148 others(252): Show c.1480-2911_1480-2910insGCGGAGGGACCCAGTAGTGGGTAAGG GAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCAGAGGG ACCCAGTAGTGGGTAACGGGGGGCGGAGGGACCCAGGGTCGGTAAGGAAG GCGGAGGGACCCAGTAGTGGGTAAGAGGGTGGAGGGCCACAGGGTAGGTA AGGAGGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158667717	C C	CGCCCTCC others(226): Show CGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACT GGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCTTACCTACCCTGTGGCCCTCCAC CCTCTTACCCACTACTGGGTCCCTCCGCCTTCCTTACCGACCCTGGGTCC CTCCGCCCCCCGTTACCCACTACTGGGTCCCTCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0368	1	378	0.0027	233	c.148 others(252): Show c.1480-2968_1480-2967insAGAGGGACCCAGTAGTGGGTAACGGG GGGCGGAGGGACCCAGGGTCGGTAAGGAAGGCGGAGGGACCCAGTAGTGG GTAAGAGGGTGGAGGGCCACAGGGTAGGTAAGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGG AGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTGGGTAAG GGAGGGC		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668129	T T	TCCCTTAC others(226): Show TCCCTTACCTACCCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTC CCTCCGCCCTCCTTACCCACTACTGGGTCCCTCCGCCCTCCCTTACCTAC CCTGTGGCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCCGCCCTCC TTACCCACTACTGGGTCCCTCCGCCCTCCTTACCCACTACTGGGTCCCTC CACCCTCTTACCCACTACTGGGTCCCTCCGCCCG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	378	0.0027	233	c.148 others(252): Show c.1480-3380_1480-3379insCGGGCGGAGGGACCCAGTAGTGGGTA AGAGGGTGGAGGGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTA GTGGGTAAGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGG GCCACAGGGTAGGTAAGGGAGGGCGGAGGGACCCAGTAGTGGGTAAGGAG GGCGGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGCCACAGGGTAG GTAAGGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPG2_chr7_158626169_158709804	158668331	C C	CCCTTACC others(226): Show CCCTTACCCACTACTGGGTCCCTCCGCCCGCCTTACCCACTACTGGGTCC CTCTGCCCTCCTTACCCACAACTGGGTCCCTCCGCCCTCCTTACCCACTA CTGGGTCCCTCCGCCCTCCTTACCTACCTTGTGTCCCTAGGCCCTCCCTT ACCCACTACTGGGTCCCTCCGCCCTCCCTTACCCACTACTGGGTCCCTCT GCCCTCCTTACCCACAACTGGGTCCCTCCGCCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	378	0.0027	233	c.147 others(252): Show c.1479+3182_1479+3183insAGGGCGGAGGGACCCAGTTGTGGGTA AGGAGGGCAGAGGGACCCAGTAGTGGGTAAGGGAGGGCGGAGGGACCCAG TAGTGGGTAAGGGAGGGCCTAGGGACACAAGGTAGGTAAGGAGGGCGGAG GGACCCAGTAGTGGGTAAGGAGGGCGGAGGGACCCAGTTGTGGGTAAGGA GGGCAGAGGGACCCAGTAGTGGGTAAGGCGGGCGGAGGGACCCAGTAGTG GGTAAGG		NCAPG2	ENSG00000146918.20	transcript	ENST00000356309.8	protein_coding	13/27						chr7	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(226): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCAGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	233	c.-41 others(244): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCAGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCC others(226): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01943.hp1 others(3): Show HG00735.hp1 HG00735.hp2 HG01943.hp1 HG02083.hp2 HG02970.hp2 NA18612.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0014 a0001c0001 a0004c0014	a0001c0001t0001 a0004c0014t0001 a0001c0001t0001 a0004c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0020 a0004c0014t0001g0099	6	384	0.0156	233	c.-41 others(244): Show c.-4100_-4099insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG02523.hp1 NA18966.hp1 others(6): Show HG01981.hp2 HG02523.hp1 NA18966.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp2 NA19011.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0002g0018	9	384	0.0234	233	c.-41 others(244): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG01928.hp2 others(9): Show HG00323.hp1 HG00544.hp2 HG01928.hp2 HG01993.hp1 HG02273.hp1 HG02273.hp2 HG03017.hp1 NA18952.hp1 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA19004.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0166 a0001c0001t0001g0175 a0007c0008t0001g0007	12	384	0.0313	233	c.-41 others(244): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCA CACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGG TGCCCGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	233	c.-41 others(244): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCGGTGCCCGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCCG others(226): Show CCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 NA19064.hp1 HG01069.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0005 a0001c0001t0001g0002 a0001c0001t0002g0005	2	384	0.0052	233	c.-41 others(244): Show c.-4100_-4099insCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGG GCTCCACACCCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCC ACACCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCGG others(226): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	233	c.-41 others(244): Show c.-4100_-4099insCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar
NCAPH2_chr22_50503224_50529780	50504238	C C	CCCCCCGG others(226): Show CCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCC AGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCG GTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCTGGT GCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCGGTGCCCGGC CTTACCCCTGCACCCCGGGCTCCACACCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	233	c.-41 others(244): Show c.-4100_-4099insCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGG CTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACA CCCCCCCCCCCTGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACC CCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCT		NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding					3985		chr22	TogoVar

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