Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EGFR_chr7_55014017_55216628	55167557	A A	ATGGTGGT others(425): Show ATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTG ATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTG ATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTA CTGGTGGTGATGAGGTGGGAGTCACAATGGTGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0044 a0001c0044	a0001c0044t0001 a0001c0044t0001	a0001c0044t0001g0206 a0001c0044t0001g0206	1	250	0.0040	432	c.188 others(451): Show c.1880+2154_1880+2155insATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGATGGTGATGAG GAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACTGGTGGTGAT GAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAGGAGGTGGGA GTCACA	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55167557	A A	ATGGTGGT others(425): Show ATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGTTG ATGGTGGTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTG ATGGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTG ATGGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTA CTGGTGGTGATGAGGTGGGAGTCACAATGGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0008 a0001c0019t0008	a0001c0019t0008g0065 a0001c0019t0008g0065	1	250	0.0040	432	c.188 others(451): Show c.1880+2195_1880+2196insGGAGTCACAATGGTGGTGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGCGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGTTGATGGTGGTGAT GGTGGTGAGGAGGTGGGAGTCACAGTGGTGGTGGTGATGAGGGTGGTGAT GGTGATGAGGAGGTGGGAGTCACAACGTTGGTGGTGATGATGGTGTTACT GGTGGTGATGAGGTGGGAGTCACAATGGTGGTGGTGGTGATGGTGGTGAG GAGGTGGGAGTCACAGTGGTGGTGGTGTTGATGGTGGTGATGGTGGTGAG GAGGTG	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(425): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01099.hp1 others(7): Show HG00280.hp1 HG00639.hp1 HG01099.hp1 HG01106.hp2 HG01255.hp1 HG01346.hp1 HG01993.hp1 HG03688.hp1 NA18747.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0227 a0001c0001t0002g0113 a0001c0001t0003g0042 others(7): Show a0001c0001t0001g0227 a0001c0001t0002g0113 a0001c0001t0003g0042 a0001c0001t0003g0129 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226	10	250	0.0400	432	c.417 others(449): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG TTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(425): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG01243.hp2 others(1): Show HG01074.hp1 HG01099.hp2 HG01243.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0056 a0001c0001t0001g0126 a0001c0001t0001g0130 others(1): Show a0001c0001t0001g0056 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0008g0076	4	250	0.0160	432	c.417 others(449): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(425): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0103 a0001c0001t0004g0103	1	250	0.0040	432	c.417 others(449): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG TTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221418	A A	ACACTCAC others(425): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19005.hp1 NA18957.hp1 NA19005.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0003t0001g0095 a0001c0003t0001g0193	2	250	0.0080	432	c.417 others(449): Show c.417-7171_417-7170insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG TTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221472	G G	ACACTCAC others(425): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	250	0.0040	432	c.417 others(449): Show c.417-7224_417-7223insTCTAGAGTGTACCTCGGCCATTGTGTGC GTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTGT GTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCA TTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCG GCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTAC CTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGT GTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTA GAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGC TCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGA GTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221526	A A	ACACTCAC others(425): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAA TGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCAC ACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAACACAC GCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTGAGTCGGGAAC ACACGCACACAATGGCCGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG00741.hp1 others(6): Show HG00140.hp1 HG00738.hp2 HG00741.hp1 HG02723.hp2 HG03654.hp2 HG04228.hp1 NA18963.hp2 NA19011.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0001t0003 a0001c0006t0003 a0001c0001t0002 a0001c0001t0003 a0001c0006t0003	a0001c0001t0002g0208 a0001c0001t0003g0007 a0001c0001t0003g0028 others(6): Show a0001c0001t0002g0208 a0001c0001t0003g0007 a0001c0001t0003g0028 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0205 a0001c0001t0003g0211 a0001c0001t0003g0217 a0001c0006t0003g0203	9	250	0.0360	432	c.417 others(449): Show c.417-7279_417-7278insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTG AGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99928008	G G	GTGATGGT others(425): Show GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATG GTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGAT GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGAGGTGGTGGTGGTGATGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0205 a0003c0002t0001g0205	1	288	0.0035	432	c.190 others(451): Show c.1909+7133_1909+7134insATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG GTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGT GATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGATGGTG GTGATG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928221	G G	GTGGTGGT others(425): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGT GGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0218 a0003c0002t0001g0218	1	288	0.0035	432	c.190 others(451): Show c.1909+7355_1909+7356insATGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGA TGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTG GTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(425): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02630.hp1 NA20129.hp1 HG00280.hp2 HG02630.hp1 NA20129.hp1	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0001 a0006c0037 a0008c0038 a0002c0001 a0006c0037 a0008c0038	a0002c0001t0003 a0006c0037t0001 a0008c0038t0001 a0002c0001t0003 a0006c0037t0001 a0008c0038t0001	a0002c0001t0003g0130 a0006c0037t0001g0095 a0008c0038t0001g0096 a0002c0001t0003g0130 a0006c0037t0001g0095 a0008c0038t0001g0096	3	208	0.0144	432	c.282 others(451): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTAT ACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(425): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02451.hp1 HG02486.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0162 a0004c0008t0001g0194 a0004c0008t0001g0162 a0004c0008t0001g0194	2	208	0.0096	432	c.282 others(451): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAA AGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTAT ACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(425): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATA CAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03453.hp2 HG02738.hp2 HG03453.hp2	a0001 a0004 a0001 a0004	a0001c0049 a0004c0008 a0001c0049 a0004c0008	a0001c0049t0001 a0004c0008t0001 a0001c0049t0001 a0004c0008t0001	a0001c0049t0001g0198 a0004c0008t0001g0160 a0001c0049t0001g0198 a0004c0008t0001g0160	2	208	0.0096	432	c.282 others(451): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGAC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTAT ACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EP400_chr12_131944942_132085460	131998879	A A	ACTTTGTA others(425): Show ACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGT ATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACT TTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAA GTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATA CAAAGTCTTTGTATACAGTCTTGTATACAAAGT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0002 a0006c0020t0002	a0006c0020t0002g0028 a0006c0020t0002g0028	1	208	0.0048	432	c.282 others(451): Show c.2827+3949_2827+3950insACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATA CAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTG TATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGTC TTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTATACAA AGTCTTTGTATACAGTCTTGTATACAAAGTCTTTGTATACAGTCTTGTAT ACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
EXD3_chr9_137301896_137428162	137355621	G G	GGAGGACG others(425): Show GGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGATGGAGGAAG GAGGAAGGAGGACGGAGGAAGGAGGATGGAGGAAGGAGGAAGGAGGATGG AGGAAGGGAGGATGGAGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGG AGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGG AGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGACGG AGGAAGGAGGATGGAGGAAGGAGGAAGGAGGATGGAGGAAGGGAGGATGG AGGAAGGAGAAAGGAGGAAGGAGAAAGGAGGAAGGAGGAAGGAGGAAGGA GAAAGGGAGGAAGGAGAAAGGAGGAAGGAGGACGGAGGAAGGAGGAAGGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0024 a0024	a0024c0023 a0024c0023	a0024c0023t0001 a0024c0023t0001	a0024c0023t0001g0049 a0024c0023t0001g0049	1	82	0.0122	432	c.757 others(447): Show c.757+646_757+647insTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCCTTCCTCCTTCCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCT TTCTCCTTCCTCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTT CCTCCATCCTCCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTT CCTCCGTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTTCCTCCTT CCTCCGTCCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTT CCTCCTTCCTCCTTTCTCCTTCCTCCTTTCTCCTTCCTCCATCCTCCCTT CCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCCTCCTTC CTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCGTCC TC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FGF21_chr19_48750524_48763330	48755114	T T	TCCCTCCT others(425): Show TCCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCCCCAGCCCCTCCTCCCT CAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCCTCAGATCCAGGAGTAC AGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCCCCAGCCCC TCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCCTCAGATCC AGGAGTACAGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCC CCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCC TCAGATCCAGGAGTACAGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCC CAAGTTCCCCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCC CTCCTCCCTCAGATCCAGGAGTACAGGCCCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	2	456	0.0044	432	c.-10 others(443): Show c.-1017_-1016insCCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCCC CAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCCT CAGATCCAGGAGTACAGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCCC AAGTTCCCCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCC TCCTCCCTCAGATCCAGGAGTACAGGCCCAGACCCTCCTCCCTCAGACCC AGGAGCCCAAGTTCCCCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGC CCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGACCCTCCTCCC TCAGACCCAGGAGCCCAAGTTCCCCAGCCCCTCCTCCCTCAGATCCAGGA GTACAGGCCCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGA	FGF21	ENSG00000105550.10	transcript	ENST00000593756.6	protein_coding		409		chr19	TogoVar
FNDC10_chr1_1593012_1605135	1595710	C C	CAGAGAGA others(425): Show CAGAGAGAGAGAGTGAGACAGAGACAGAGACAGAGAGGCAGACAGAGAGA GACAGACAGACAGACAGACACAGAGAGAGCAGAACAGGGACAGACAGAGA GAGAGAGAGAGAGACAGAGACAGAGACAGAGAGGCAGAGAGAGAGACACA GAGAGAGCAGAACAGGGAGAGACAGAGAGACAGAGAGAGAGAGAGACAGA GAGAGGCAGACAGAGACAGAGAGACAGACAGACAGACACAGAGAGAGCAG AACGGGGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAGCAGAACAGG GAGAAACAGAGAGACAGAGAGCGAGAGAGACAGAGACAGAGAGAGGCAGA CAGAGACAGAGAGAGAGACAGACAGACAGACACAGAGAGAGCAGAACAGG GAGAGACAGAGACAGAGAGAAACAGAGACAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	406	0.0025	432	c.36 others(443): Show c.3624_*3625insCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTCC CTGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTCTCTCTCTGTCTCTGT CTGCCTCTCTCTGTCTCTGTCTCTCTCGCTCTCTGTCTCTCTGTTTCTCC CTGTTCTGCTCTCTCTGTCTCTCTCTCTCTCTCTCTGTCTCTCCCCGTTC TGCTCTCTCTGTGTCTGTCTGTCTGTCTCTCTGTCTCTGTCTGCCTCTCT CTGTCTCTCTCTCTCTCTGTCTCTCTGTCTCTCCCTGTTCTGCTCTCTCT GTGTCTCTCTCTCTGCCTCTCTGTCTCTGTCTCTGTCTCTCTCTCTCTCT CTCTGTCTGTCCCTGTTCTGCTCTCTCTGTGTCTGTCTGTCTGTCTGTCT CTCTCTGTCTGCCTCTCTGTCTCTGTCTCTGTCTCACTCTCTCTCTCT	FNDC10	ENSG00000228594.4	transcript	ENST00000422725.4	protein_coding		2301		chr1	TogoVar
FOXK2_chr17_82514732_82609602	82586257	G G	GGGGGGAA others(425): Show GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAAGTCAAAGGTGGGCGGA GGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTAGGCCGGGG GGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGAGGGG AAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGGA AAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGTGGGCCGGGGGGAAA GGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAGGCGGAGGGAAAGGA GGAGAGGGGAGACCACAGGAGGTGAAAGGTGGGCCGGGGGGGAAAGGAGG AGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGGGGGGGAAAGGAGGA GAGGGGAGACCACAGGGAGGTCAAAGGTGGGCC	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0026 a0001c0001t0022g0026	1	308	0.0033	432	c.157 others(447): Show c.1576+62_1576+63insAAAGGAGGAGAGGGGAGACCACAGGGAAGT CAAAGGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGA AAGGTAGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAA GGTGGGCGGAGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGG TGGGCCGGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTGAAAGGT GGGCCGGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTAG GCGGAGGGAAAGGAGGAGAGGGGAGACCACAGGAGGTGAAAGGTGGGCCG GGGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCGGG GGGGGAAAGGAGGAGAGGGGAGACCACAGGGAGGTCAAAGGTGGGCCGGG GG	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXN3_chr14_89151177_89422233	89361931	G G	GCACCACC others(425): Show GCACCACCTCCACCACCACCTCCAGCACCACCTCCACCACTACCACCTCC AGCACCACCTCCACCACCACCTCCACCACTACCACCTCCAGCACCACCTC CACCACCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCA CCACCTCCAGCACCACCTCCAGCACCACCTCCACCACTACCACCTCCAGC ACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCTCCACCACCACCACCTCCAGCACCACCTCCA CCACCACCTCCACCACCACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACTACCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCAC CTCCACCACCACCACCTCCAGCACCACCTCCAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	230	0.0044	432	c.544 others(451): Show c.544-11124_544-11123insGTGGAGGTGGTGCTGGAGGTGGTGGT GGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGG TAGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAG GTGGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGA GGTGGTGCTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGCTGG AGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTGCTG GAGGTGGTGGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGT GGTGGTGGAGGTGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGGTGGAGG TGGTGCTGGAGGTGGTAGTGGTGGAGGTGGTGCTGGAGGTGGTGGTGGAG GTGGTG	FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5			chr14	TogoVar
FUT1_chr19_48743011_48757641	48755114	T T	TCCCTCCT others(425): Show TCCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCCCCAGCCCCTCCTCCCT CAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCCTCAGATCCAGGAGTAC AGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCCCCAGCCCC TCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCCTCAGATCC AGGAGTACAGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCCCAAGTTCC CCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCCCTCCTCCC TCAGATCCAGGAGTACAGGCCCAGACCCTCCTCCCTCAGACCCAGGAGCC CAAGTTCCCCAGCCCCTCCTCCCTCAGATCCAGGAGTACAGGCCCAGCCC CTCCTCCCTCAGATCCAGGAGTACAGGCCCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0039 a0001c0001t0013g0039	2	438	0.0046	432	c.-26 others(443): Show c.-2628_-2627insTCTGGGCCTGTACTCCTGGATCTGAGGGAGGAGG GGCTGGGCCTGTACTCCTGGATCTGAGGGAGGAGGGGCTGGGGAACTTGG GCTCCTGGGTCTGAGGGAGGAGGGTCTGGGCCTGTACTCCTGGATCTGAG GGAGGAGGGGCTGGGCCTGTACTCCTGGATCTGAGGGAGGAGGGGCTGGG GAACTTGGGCTCCTGGGTCTGAGGGAGGAGGGTCTGGGCCTGTACTCCTG GATCTGAGGGAGGAGGGGCTGGGCCTGTACTCCTGGATCTGAGGGAGGAG GGGCTGGGGAACTTGGGCTCCTGGGTCTGAGGGAGGAGGGTCTGGGCCTG TACTCCTGGATCTGAGGGAGGAGGGGCTGGGCCTGTACTCCTGGATCTGA GGGAGGAGGGGCTGGGGAACTTGGGCTCCTGGGTCTGAGGGAGGAGGG	FUT1	ENSG00000174951.12	transcript	ENST00000645652.2	protein_coding		2474		chr19	TogoVar
GALR1_chr18_77244848_77282900	77252902	C C	CCATCACC others(425): Show CCATCACCACCACCACCACCACCACCACCACCACCATCACCACCACCACC ACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCATCACCACCACCATCACCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCACCA CCACCACCACCACCATCACCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0027 a0001c0001t0026g0027	1	366	0.0027	432	c.666 others(449): Show c.666+1690_666+1691insTCACCACCACCACCACCACCACCACCAC CACCATCACCACCACCACCACCACCACCACCATCACCACCACCACCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCACCACCACC ATCACCACCACCACCATCACCACCACCACCATCACCACCACCACCATCAC CACCACCATCACCACCACCACCATCACCACCACCACCATCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCACCACCATCACCACCACCATCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ATCA	GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
GFPT2_chr5_180295698_180358336	180312186	C C	CCAGGGAG others(425): Show CCAGGGAGGCGGGGAGGCAGGGAGGCAGGGAGGCTGAGGACCAGGGAGGC AGGGAGGTGGGGAGGCTGAGGGGCAGGGAGGCAGGGAGGCGGGGAGGTGG GGAGGCTGAGGGGCAGGGAGGCAGGGAGGTGGGGAGGCTGAGGACCAGGG AGGCAGGGAGGTGGGGAGGCTGAGGGGCAGGGAGGCAGGGAGGCGGGGAG GTGGGGAGGCTGAGGGGCAGGGAGGCAGGGAGGCGGGGAGGTGGGGAGGC TGAGGGGCAGGGAGGCAGGGAGGCGGGGAGGTGGGGAGGCTGAGGGGCAG GGAGGCAGGGAGGCTGAGGACCAGGGAGGTGGGGAGGCTGAGGACCAGGG AGGCAGGGAGGCTGAGGACCAGGGAGGCAGGGAGGCTGAGGACCAGGGAG GCGGGGAGGCAGGGAGGCAGGGAGGCAGGGAGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0214 a0002c0008t0001g0214	1	412	0.0024	432	c.154 others(449): Show c.1546+243_1546+244insCCTCCCTGCCTCCCTGCCTCCCTGCCTC CCCGCCTCCCTGGTCCTCAGCCTCCCTGCCTCCCTGGTCCTCAGCCTCCC TGCCTCCCTGGTCCTCAGCCTCCCCACCTCCCTGGTCCTCAGCCTCCCTG CCTCCCTGCCCCTCAGCCTCCCCACCTCCCCGCCTCCCTGCCTCCCTGCC CCTCAGCCTCCCCACCTCCCCGCCTCCCTGCCTCCCTGCCCCTCAGCCTC CCCACCTCCCCGCCTCCCTGCCTCCCTGCCCCTCAGCCTCCCCACCTCCC TGCCTCCCTGGTCCTCAGCCTCCCCACCTCCCTGCCTCCCTGCCCCTCAG CCTCCCCACCTCCCCGCCTCCCTGCCTCCCTGCCCCTCAGCCTCCCCACC TCCCTGCCTCCCTGGTCCTCAGCCTCCCTGCCTCCCTGCCTCCCCGCCTC CCTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding	15/18			chr5	TogoVar
GLB1L3_chr11_134271379_134324564	134308472	A A	ACCACCAA others(425): Show ACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCACCA TCACCATCACCATCACCACCACCACCACCACCATCACCACCAAATACCAC CACCACCACCATGTCCACCACCACTACCACCACCATCACCATCATCACCA TCACCACCACCACCACCATCACCACCACCACCATCACCACCACCACCACC ACCACCACCAAATACCACCACCACCATCACCACCACCACCACCACCACCA CCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCACCAC CATCACCATCACCACCACCACCACCACCATCACCATCACCATCATCACCA TCACCTCCACCACCACCACCACTATCACCACCATCACCATCACCACCATC ACCACCATCACCATCACCACCACCACCACCATC	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19077.hp1 NA18957.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0013 a0001c0003t0003g0013 a0001c0003t0001g0013 a0001c0003t0003g0013	2	422	0.0047	432	c.962 others(449): Show c.962-1154_962-1153insCCACCAAATACCACCACCACCACCATGT CCACCACCACTACCACCACCATCACCATCACCATCACCACCACCACCACC ACCATCACCACCAAATACCACCACCACCACCATGTCCACCACCACTACCA CCACCATCACCATCATCACCATCACCACCACCACCACCATCACCACCACC ACCATCACCACCACCACCACCACCACCACCAAATACCACCACCACCATCA CCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCACCAT GTCCACCACCACTACCACCACCATCACCATCACCACCACCACCACCACCA TCACCATCACCATCATCACCATCACCTCCACCACCACCACCACTATCACC ACCATCACCATCACCACCATCACCACCATCACCATCACCACCACCACCAC CATC	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19			chr11	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGGAAGG others(425): Show GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGGAGGGAGGGGGGGAGGGA GGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGGAAGGAAAGGAGGGAGGGGAAGGGAGGGAGGGAGG GGAAGGAAGGGAGGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGA AGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAG GGGAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02965.hp1 HG02976.hp1 HG01981.hp2 HG02965.hp1 HG02976.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0023 a0002c0002t0023 a0003c0004t0075 a0001c0001t0023 a0002c0002t0023 a0003c0004t0075	a0001c0001t0023g0023 a0002c0002t0023g0086 a0003c0004t0075g0111 a0001c0001t0023g0023 a0002c0002t0023g0086 a0003c0004t0075g0111	3	188	0.0160	432	c.229 others(451): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTCCCTCCCTTCCTT CCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCCCTCCCTC CCTTCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCT TCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCTTTCCTTCCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCC CTTCCCCTCCCTCCCCCCCTCCCTCCCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCC CTTCCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GPR173_chrX_53043789_53085615	53074425	T T	TATATATT others(425): Show TATATATTAATATATATTTATATTTATTTATTAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATAAATATATATTTATATTTATTTATAAATATATATTTATATTTATTTA TATATAAATATATATAAATCTATATTTATAGTTATTTATATATAAATATA TAAATCTATATATATAAATATAGATTTATATATATTTATATATAAATAAC TATAAATATAGATTTATATATATTTATATATAAATAACTATAAATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATATATAAATAACTATATA GATTTATATATATTTATTTATAAATAACTATAA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04199.hp1 NA19006.hp1 HG03831.hp1 HG04199.hp1 NA19006.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0017 a0001c0001 a0008c0017	a0001c0001t0010 a0001c0001t0031 a0008c0017t0040 a0001c0001t0010 a0001c0001t0031 a0008c0017t0040	a0001c0001t0010g0081 a0001c0001t0031g0136 a0008c0017t0040g0077 a0001c0001t0010g0081 a0001c0001t0031g0136 a0008c0017t0040g0077	3	208	0.0144	432	c.-97 others(449): Show c.-97-2095_-97-2094insTTAATATATATTTATATTTATTTATTAA TAAATATATATAAATATATATAAATATATATTTATATTTATTTATAAATA AATATATATAAATATATATAAATATATATTTATATTTATTTATAAATATA TATTTATATTTATTTATATATAAATATATATAAATCTATATTTATAGTTA TTTATATATAAATATATAAATCTATATATATAAATATAGATTTATATATA TTTATATATAAATAACTATAAATATAGATTTATATATATTTATATATAAA TAACTATAAATATAGATTTATATATATTTATATATAAATAACTATATAGA TTTATATATATTTATATATAAATAACTATATAGATTTATATATATTTATA TATAAATAACTATATAGATTTATATATATTTATTTATAAATAACTATAAA TATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
HIVEP3_chr1_41501365_41923922	41544876	C C	CCACCACC others(425): Show CCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTACC ACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACCAC CATCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCCATCA TCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACCACC ACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTACCACCAC AACCACCACTACCACCTCTACCACCACCATCACCACCACCACTATCACCA CCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCACCACC ATCACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCAC CACCTCTACCACCACCATCACCACCACCACTAT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0123 a0002c0002t0035g0123	1	134	0.0075	432	c.520 others(453): Show c.5208-19967_5208-19966insATAGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTTGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGG TGGTGGTGATGATGGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTA GAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAGTGGT GGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTGG TGGTGGTG	HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322442	A A	AATATATA others(425): Show AATATATACATGGAATATATATATATGGAATATATACATGGAATATATAT ATATAGAATATATACATGGAATATATATATGGAATATATACATGGAATAT ATATATATGGAATATATACATGGAATATATACATGGAATATATACATGGA ACATATACATGGAATATATACATGGAACATATACATGGAATATATATATA TGGAACATATACGGAATATATATATGGAATATATATACGGAATATATATA TATGGAATATATATACGGAATATATATATGGAATATATATACGGAATATA TATATATGGAATATATATACGGAATATATATATATGGAATATATATACGG AATATATATATGGAATATATATATGGAATATGTATATGGAATATATATAT ATGGAATATGTATATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	323	0.0031	432	c.-26 others(443): Show c.-2614_-2613insATATATACATGGAATATATATATATGGAATATAT ACATGGAATATATATATATAGAATATATACATGGAATATATATATGGAAT ATATACATGGAATATATATATATGGAATATATACATGGAATATATACATG GAATATATACATGGAACATATACATGGAATATATACATGGAACATATACA TGGAATATATATATATGGAACATATACGGAATATATATATGGAATATATA TACGGAATATATATATATGGAATATATATACGGAATATATATATGGAATA TATATACGGAATATATATATATGGAATATATATACGGAATATATATATAT GGAATATATATACGGAATATATATATGGAATATATATATGGAATATGTAT ATGGAATATATATATATGGAATATGTATATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2527		chr21	TogoVar
IL17REL_chr22_49986811_50017765	50009894	T T	TGGCGGCA others(425): Show TGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGT GACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGG TGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGG CAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCT CAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGA ATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCA GTGACCCTCAGTCTGGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCT GGTGTGGAATCGGCGGCAGTCAGTGACCCTCAGTCTGGTGTGGAATCGGC GGCAGTCAGTGACCCTCAGTCTGGTGTGGAATC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03710.hp2 HG03942.hp1 others(5): Show HG01123.hp1 HG03710.hp2 HG03942.hp1 NA18955.hp2 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0029 a0001c0001t0001g0102 a0001c0001t0001g0178 others(4): Show a0001c0001t0001g0029 a0001c0001t0001g0102 a0001c0001t0001g0178 a0001c0001t0001g0204 a0001c0001t0001g0213 a0001c0001t0004g0190 a0001c0001t0004g0191	8	440	0.0182	432	c.103 others(449): Show c.103-1231_103-1230insGATTCCACACCAGACTGAGGGTCACTGA CTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCC ACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGG GTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCG CCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCA GACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACT GACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGCCGCCGATT CCACACCAGACTGAGGGTCACTGACTGCCGCCGATTCCACACCAGACTGA GGGTCACTGACTGCCGCCGATTCCACACCAGACTGAGGGTCACTGACTGC CGCC	IL17REL	ENSG00000188263.11	transcript	ENST00000695950.1	protein_coding	1/14			chr22	TogoVar
INPP5A_chr10_132532787_132788480	132772775	C C	CGGCAGCC others(425): Show CGGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGCACTGACACAGAG GCCACAGCAGCCACCCGATGAAGAGTGGGACGGACACTCAGCACTGACAC GGAGGCCACGGCAGCCACCCCATGAAGAGTGGGACGGACACTCAGCACTG ACACGGAGGCCCCGGCAGCCACCCCATGAAGAGTGGGACAGACACTCAGC ACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGTGGGACGGACACT CAGCACTGACACGGAGGCCCTGGCAGCCACCCCATGAAGAGTGGGACGGA CACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCCCATGAAGAGTGGGA CAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGAGT GGGACGGACACTCAGCACTGACACGGAGGCCCT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	204	0.0049	432	c.978 others(449): Show c.978-4889_978-4888insACCCCATGAAGAGTGGGACAGACACTCA GCACTGACACAGAGGCCACAGCAGCCACCCGATGAAGAGTGGGACGGACA CTCAGCACTGACACGGAGGCCACGGCAGCCACCCCATGAAGAGTGGGACG GACACTCAGCACTGACACGGAGGCCCCGGCAGCCACCCCATGAAGAGTGG GACAGACACTCAGCACTGACACAGAGGCCACAGCAGCCACCCCATGAAGA GTGGGACGGACACTCAGCACTGACACGGAGGCCCTGGCAGCCACCCCATG AAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCCGGCAGCCGCCC CATGAAGAGTGGGACAGACACTCAGCACTGACACAGAGGCCACAGCAGCC ACCCCATGAAGAGTGGGACGGACACTCAGCACTGACACGGAGGCCCTGGC AGCC	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(425): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCC TCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCC CCCCTATCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCC CCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTCCCTCTCTCTCCCCCCTC CTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCC CTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0002 a0001c0015t0002	a0001c0015t0002g0018 a0001c0015t0002g0018	1	158	0.0063	432	c.11 others(453): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCT CCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCCCC CTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCCAT CCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTC CTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCCTCCTTC CCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCT CTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTG TCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(425): Show TATAAATATATAAATATATAAATATATACATATATAAATATATGAATATA TAAAATATATAAATATATAAATATATATAAATAAATATATAAATATATAC AAATATATAAATAAATATATAAATATATAAATATAAATATATATTTATAG ATATATAGATTTTACGTTTAAAATATATATTTTATAGATTTTATATTTAA AATATATATTTATAGATTTTATATTTAAAAATATATTTTATATATTTTAT ACATAAAATATAATATATAAAATATATAAATCATATAAAATTTATATTTT ATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATATTATA TATTATTATGTTATATATTATATATTATTATATTATATATATTATATGTA TTATATTATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0147 a0001c0001t0052g0147	1	389	0.0026	432	c.-51 others(443): Show c.-5160_-5159insATAAATATATAAATATATAAATATATACATATAT AAATATATGAATATATAAAATATATAAATATATAAATATATATAAATAAA TATATAAATATATACAAATATATAAATAAATATATAAATATATAAATATA AATATATATTTATAGATATATAGATTTTACGTTTAAAATATATATTTTAT AGATTTTATATTTAAAATATATATTTATAGATTTTATATTTAAAAATATA TTTTATATATTTTATACATAAAATATAATATATAAAATATATAAATCATA TAAAATTTATATTTTATGTATAAATATAAATGAATATAAAAATATATTAT ATGTTATATATTATATATTATTATGTTATATATTATATATTATTATATTA TATATATTATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNK10_chr14_88175108_88328269	88310229	G G	GATATACC others(425): Show GATATACCATATCATATGGTATATGATATACCATATCATATGGTATATCA TATACCATATCATATGGTATATCATATACCATATCATATGGTATATCATA TACCATATCATATGGTATATCATATACCATATCATATGGTATATCATATA CCATATCATATGGTATATCATATACCATATCATATGGTATATCATATACC ATATCATATGGTATATCATATACCATATCATATGGTATATCATATACCAT ATCATATGGTATATCATATACCATATCATATGGTATATCATATACCATAT CATATGGTATATCATATACCATATCATATGGTATATCATATACCATATCA TATGGTATATCATATACCATATCATATGGTATATCATATACCATATCATA TGGTATATCATATACCATATCATATGGTATATC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0035 a0001c0002t0008g0035	1	334	0.0030	432	c.52+ others(449): Show c.52+12517_52+12518insGATATACCATATGATATGGTATATGATA TACCATATGATATGGTATATGATATACCATATGATATGGTATATGATATA CCATATGATATGGTATATGATATACCATATGATATGGTATATGATATACC ATATGATATGGTATATGATATACCATATGATATGGTATATGATATACCAT ATGATATGGTATATGATATACCATATGATATGGTATATGATATACCATAT GATATGGTATATGATATACCATATGATATGGTATATGATATACCATATGA TATGGTATATGATATACCATATGATATGGTATATGATATACCATATGATA TGGTATATGATATACCATATGATATGGTATATGATATACCATATGATATG GTATATGATATACCATATGATATGGTATATCATATACCATATGATATGGT ATAT	KCNK10	ENSG00000100433.16	transcript	ENST00000319231.10	protein_coding	1/6			chr14	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(425): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATAAAATATATATAAAATATATATTATAT AAAATATATATAAAATATATATAAAATATATATTATATAAAATATATATA AAATATATATTATATAAAATATATATAAAATATATATTATATAAAATATA TATAAAATATATATTATATAAAATATATATTATATATAAAATATATAATA TATATAAAATATATACTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	260	0.0039	432	c.963 others(451): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATAAAATATATATTATA TAAAATATATATAAAATATATATTATATAAAATATATATAAAATATATAT TATATAAAATATATATAAAATATATATTATATAAAATATATATTATATAT AAAATATATAATATATATAAAATATATACTATATATAAAATATATAATAT ATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNQ2_chr20_63395208_63477655	63442782	C C	CCACCATC others(425): Show CCACCATCACCATTACCACCACCATTACCACCACCATCACCATCACCATC ACCACCACCACCACCACCACCATCACCATCACCACCACCACCACCATCAC CACCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCA TCACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACC ATCACCACCATCACCATCACCACCATCACCATTACCACCACCATTACCAC CACCATCACCATCACCATCACCACCACCACCACCATCACCATCACCACCA CCATCACCATTATCACCACCACCATCACCACCATCACCACCACCACCATC ACCATCACCACCACCATCACCATTATCACCACCACCATCACCACCATCAC CATCACCACCATCACCATCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03579.hp1 HG02109.hp1 HG03579.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0064 a0002c0001t0005 a0002c0001t0064	a0002c0001t0005g0090 a0002c0001t0064g0089 a0002c0001t0005g0090 a0002c0001t0064g0089	2	330	0.0061	432	c.691 others(447): Show c.691-252_691-251insATGGTGGTGGTGGTGATGGTGATGGTGGTG ATGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGATGGTGGTGGTGAT GGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGTGATAATGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGATG GTGGTGGTAATGGTGGTGGTAATGGTGATGGTGGTGATGGTGATGGTGGT GATGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGG TGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGT GGTGATGGTGATGGTGATGGTGGTGGTAATGGTGGTGGTAATGGTGATGG TG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF17_chr1_20659014_20723007	20712841	G G	GATATTAT others(425): Show GATATTATCTATATTATAGATATAGATATTATCTATATCTATATTATAGA TAATATCTATAATATAGATATTATCTATATTATAGATAATATCTATAATA TAGATATTATCTATATTATAGATAATATCTATAATATAGATATAGATATT ATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAGATAA TATTATCTATATCTATAATATAGATAATATTATCTATATCTATAATATAG ATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTATAAT ATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATATCTA TAATATAGATAATATTATCTATATCTATAATATAGATAATATTATCTATA TCTATAATATAGATAATATTATCTATATCTATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0034 a0011c0034	a0011c0034t0001 a0011c0034t0001	a0011c0034t0001g0383 a0011c0034t0001g0383	1	414	0.0024	432	c.480 others(447): Show c.480+612_480+613insTATAGATATAGATAATATTATCTATATTAT AGATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATA TTATAGATATAGATAATATTATCTATATTATAGATATAGATAATATTATC TATATTATAGATATAGATAATATTATCTATATTATAGATATAGATAATAT TATCTATATTATAGATATAGATAATATTATCTATATTATAGATATAGATA ATATTATCTATATTATAGATATAGATAATATTATCTATATTATAGATATA GATAATATCTATATCTATATTATAGATATTATCTATAATATAGATAATAT CTATATTATAGATATTATCTATAATATAGATAATATCTATATTATAGATA TTATCTATAATATAGATATAGATAATATCTATATCTATAATATAGATAAT AT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KLHL32_chr6_96919728_97145753	97093677	C C	CTGAGGGT others(425): Show CTGAGGGTCTTTCTTTTTTTTTTTTTCTTTTTTTTTTTTTTATTATACTC TCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATA CATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAG GTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTC CCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAA TTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGA TAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGG ATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATC CACATTTTCTTAATCCAGACTATCATTGTTGGA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	244	0.0041	432	c.627 others(449): Show c.627+8350_627+8351insTTTTTTTTTTTCTTTTTTTTTTTTTTAT TATACTCTCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACAT ATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTA GCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCAC CACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCAT TGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTT CTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCT ACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGT GTATATCCACATTTTCTTAATCCAGACTATCATTGTTGGATGAGGGTCTT TCTT	KLHL32	ENSG00000186231.17	transcript	ENST00000369261.9	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(425): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGGAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATG AAGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAG GAGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGG AGGGGGAGGAGGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAG GAAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	316	0.0032	432	c.583 others(447): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCCTCCTCCC CCTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTC CTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCT CTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCT CCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCC TCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATC TCCCTGACCCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCT CTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTC TC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(425): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAAGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGAG GGGGGAGGGAGGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAG GAAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	316	0.0032	432	c.583 others(447): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCCTCCCTCC CCCCTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCTTTTC TCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTC CTCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCT CTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTC CTCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCAT CTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCT CTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTC TC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(425): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGG GAGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAA GAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGA GGAGAAAATGAGGAAGAGGAGGAGGGGGGAGGAGGAGGAGGAGGGGAGGA GGGGGAGGAGGGGGAGGAGGGCAGGAGGAGGGGGGAGGGGGGAGGAGGAG GAAGAGGAGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	316	0.0032	432	c.583 others(447): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCCTCCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCC CCCTCCTCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCTTCCTCATTTTC TCCTCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTC CTCTTCATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCT CTCCCCCTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTC CTCTTCCTCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCAT CTCCCTGACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCT CTCCTCCCCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTC TC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LFNG_chr7_2514774_2533429	2515038	C C	CTGTCCAT others(425): Show CTGTCCATCCGTCCATCCATCCATCCATCTGTCTGTCTGTCTGCCCATCC ATCTGCCCCTCCATCTAACTGTTCATCCATCCACCTTTCCATCCATCCAT CTATTCATCCATCCATCCATCCGTCCCTCCATCTGTCCATCTGTCTATCC ATTCATTCATCCATCCATCCATTCATCCATCCATGCATCCATCTGTCCAT TCATCCATGCATCCATCCATCCATTCATCTGTCGGTCTGTCTGTCCATCC ATCCATCCATCCATCCATCCATCCATTCATCTGTCTATCCATCCATCCAT TCATCCATGCATCCATCCATCCATTCGTCTGTCTGTCCATTCACCTATCC TTCCATCCATCCATGTATCTATCCATTCATCCATCTATCCATCTGTCCAT CCATCCATCCGTCCGTCCATCCATCTGTCCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	432	c.-48 others(443): Show c.-4824_-4823insTGTCCATCCGTCCATCCATCCATCCATCTGTCTG TCTGTCTGCCCATCCATCTGCCCCTCCATCTAACTGTTCATCCATCCACC TTTCCATCCATCCATCTATTCATCCATCCATCCATCCGTCCCTCCATCTG TCCATCTGTCTATCCATTCATTCATCCATCCATCCATTCATCCATCCATG CATCCATCTGTCCATTCATCCATGCATCCATCCATCCATTCATCTGTCGG TCTGTCTGTCCATCCATCCATCCATCCATCCATCCATCCATTCATCTGTC TATCCATCCATCCATTCATCCATGCATCCATCCATCCATTCGTCTGTCTG TCCATTCACCTATCCTTCCATCCATCCATGTATCTATCCATTCATCCATC TATCCATCTGTCCATCCATCCATCCGTCCGTCCATCCATCTGTCCATT	LFNG	ENSG00000106003.14	transcript	ENST00000222725.10	protein_coding		4735		chr7	TogoVar
LHPP_chr10_124456823_124619141	124471486	A A	ATATATAT others(425): Show ATATATATAAATTTTTTTATATTTATATATTTTTTATATATTTATATATA TTACATATATTTTTATATTTTATATATATTTATATATTTTATATATTTAT ATATTTTTTATATATTTATATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATATTTATATATATTTATGTATA TTTATATATATTTATATATTTATGTATATATTTATATATATTTATATATT TATGTATAAATTTATATATATTTATATGTATTTATATATATATTTATATG TATTTATATATATTTATATATTTATATGTATTTATACATATATATTTATA TGTATTTATATATATTTATATATATTTTTTATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02602.hp1 HG03654.hp1 others(6): Show HG00735.hp2 HG02602.hp1 HG03654.hp1 NA18947.hp1 NA18950.hp2 NA18964.hp1 NA18970.hp2 NA19081.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0002c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0065 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0001g0199 a0001c0001t0004g0105 a0001c0001t0017g0025 a0002c0002t0001g0198	9	260	0.0346	432	c.125 others(449): Show c.125+9502_125+9503insATATAAATTTTTTTATATTTATATATTT TTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTTA TATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATATA TATTTATATATATTTATGTATATTTATATATATATTTATATATATTTATG TATATTTATATATATATTTATATATATTTATGTATATTTATATATATATT TATATATATTTATGTATATTTATATATATTTATATATTTATGTATATATT TATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTATT TATATATATATTTATATGTATTTATATATATTTATATATTTATATGTATT TATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTAT GTAT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRCH3_chr3_197786254_197893436	197876899	C C	CTCACTGC others(425): Show CTCACTGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACC GCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCC AACTCACCGCACCCATGACAGTGATTCTCTTTACCCAATTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCT CTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0192 a0001c0001t0067g0192	1	292	0.0034	432	c.220 others(451): Show c.2208+1128_2208+1129insTGCACCCATGGCAGTGATTCTCTTTA CCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGAT TCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGT TCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATG GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCTCTT TACCCAATTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCG CACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTG ATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCA GTTCAC	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197877439	C C	CTCACCGC others(425): Show CTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCAT GGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCT TTACCCAGTTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTCACC GCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGT GATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCC AGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCC ATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGATTCT CTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCA CCGCACCCATGGCAGTGATTCTCTTTACCCAGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0043 a0002c0003t0002g0043	1	292	0.0034	432	c.220 others(451): Show c.2208+1734_2208+1735insGTTCACCGCACCCATGGCAGTGATTC TCTTTACCCAGTTCACCGCACCCATGACAGTGATTCTCTTTACCCAACTC ACCGCACCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGC AGTGATTCTCTTTACCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTA CCCAGTTCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCA CCCATGGCAGTGATTCTCTTTACCCAACTCACCGCACCCATGACAGTGAT TCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTTTACCCAAC TCACCGCACCCATGGCAGTGATTCTCTTTACCCAGTTCACCGCACCCATG GCAGTGATTCTCTTTACCCAACTCACCGCACCCATGGCAGTGATTCTCTT TACCCA	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRP1_chr12_57123483_57218361	57191928	T T	TACCACAC others(425): Show TACCACACACACTACACACCCCACACACACACCACATACACACACCACAC ACACACCACACCACATACACACACCACACACACACCACAAAACATACACA CATTCCCCACACACACACCATACATACCACATACGCACACCACCGCACAC ACAATACATACACCACATAGCACACACACTGCAGCACACACGAGATACAC ACCACACCATACAACACACCACACACACCACACAGGACATGTACACCACA CACACAACCAACACACATCACATGCACACACACATACACACACCACACAT ACTATACCACATACACATGCAGTACACACACCACACCACACACACACCAC ATACACAGATACCACACACACTGCAGCACACACAAGACACACACCACACC ATGCAACACACCACACACACACCACATACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp2 HG02965.hp1 HG06807.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0046 a0001c0016t0002g0047 a0001c0016t0002g0046 a0001c0016t0002g0047	2	276	0.0073	432	c.742 others(449): Show c.7429+427_7429+428insTACACACCCCACACACACACCACATACA CACACCACACACACACCACACCACATACACACACCACACACACACCACAA AACATACACACATTCCCCACACACACACCATACATACCACATACGCACAC CACCGCACACACAATACATACACCACATAGCACACACACTGCAGCACACA CGAGATACACACCACACCATACAACACACCACACACACCACACAGGACAT GTACACCACACACACAACCAACACACATCACATGCACACACACATACACA CACCACACATACTATACCACATACACATGCAGTACACACACCACACCACA CACACACCACATACACAGATACCACACACACTGCAGCACACACAAGACAC ACACCACACCATGCAACACACCACACACACACCACATACACACACCACAC ACAC	LRP1	ENSG00000123384.14	transcript	ENST00000243077.8	protein_coding	44/88		INFO_REALIGN_3_PRIME	chr12	TogoVar
LUZP2_chr11_24492053_25087638	24602259	C C	CATATATG others(425): Show CATATATGTGTATATATGTGTATATATGCAAACATATATGTGTATATATG TATATATATGCAAACATATATGTGTATATATGTATATATATGCAAACATA TATGTACATACATATATACACACATATATATGTACATACATATATACACA CATATATATGTACATACATATATACACACATATATATGTACATACATATA TACACACATATATATGTACATACATATATACACACATATATATGTACATA CATATATGCACACATATATATGTACATACATATATGCACACATATATATG TACATACATATATGCACACATATATATGTACATACATATATGCACACATA TATATGTACATACATATATGCACACATATATATGTACATACATATATGCA CACATATATATGTACATACATATATGCACACAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0054 a0001c0001t0011g0054	1	116	0.0086	432	c.62+ others(451): Show c.62+104962_62+104963insGTATATATGTGTATATATGCAAACAT ATATGTGTATATATGTATATATATGCAAACATATATGTGTATATATGTAT ATATATGCAAACATATATGTACATACATATATACACACATATATATGTAC ATACATATATACACACATATATATGTACATACATATATACACACATATAT ATGTACATACATATATACACACATATATATGTACATACATATATACACAC ATATATATGTACATACATATATGCACACATATATATGTACATACATATAT GCACACATATATATGTACATACATATATGCACACATATATATGTACATAC ATATATGCACACATATATATGTACATACATATATGCACACATATATATGT ACATACATATATGCACACATATATATGTACATACATATATGCACACATAT ATATGT	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	2101592	C C	CAGGTGGG others(425): Show CAGGTGGGTGGCAGGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCA GGTGGGTGGCATGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGG TGGGTGGCAGGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGGTG GGTGGCAGGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGGTGGG TGGCAGGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGGTGGGTG GCAGGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGGTGGGTGGC GCGAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGGTGGGTGGCGC GAGACTGGGGCTCCACTCCTAAAGGGTCTCCATCCAGGTGGGTGGCATGA GACTGGGGCTCCACTCCTAAAGGGTCTCCATCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG01069.hp1 others(5): Show HG00642.hp1 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG02523.hp1 HG03831.hp1 HG03927.hp1 HG04115.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0005 a0004c0010 a0001c0001 a0001c0005 a0004c0010	a0001c0001t0001 a0001c0005t0001 a0004c0010t0001 a0001c0001t0001 a0001c0005t0001 a0004c0010t0001	a0001c0001t0001g0163 a0001c0005t0001g0092 a0001c0005t0001g0093 others(5): Show a0001c0001t0001g0163 a0001c0005t0001g0092 a0001c0005t0001g0093 a0001c0005t0001g0094 a0001c0005t0001g0098 a0001c0005t0001g0099 a0001c0005t0001g0100 a0004c0010t0001g0205	8	264	0.0303	432	c.107 others(453): Show c.1074-32255_1074-32254insAGATGGAGACCCTTTAGGAGTGGA GCCCCAGTCTCATGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGC CCCAGTCTCGCGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCC CAGTCTCGCGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCCCA GTCTCCTGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCCCAGT CTCCTGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCCCAGTCT CCTGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCCCAGTCTCC TGCCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCCCAGTCTCATG CCACCCACCTGGATGGAGACCCTTTAGGAGTGGAGCCCCAGTCTCCTGCC ACCCACCT	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238523	T T	TATTATAT others(425): Show TATTATATATATTATACATTATATATAATGTATATTATATATTATATATA ATATACATTATATATAATGTATAATATATATTATATATAATATACATTAT ATATAATGTATAATATATATTATATATTATACATTATATATAATGTATAA TATATATTATATATAATATACATTATATATAATGTATAATATATATTATA TAATATACATAATGTATATTATATATAATATACATAATGTATATTATATA TAATATACATAATGTATATTATATATAATATACATAATGTATATTATATA TAATATACATAATGTATATTATATATAATATACATAATGTATATTATATA TAATATACATAATGTATATTATATATAATATACATAATGTATATTATATA TAATATACATAATGTATATTATATATAATATAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0071 a0071	a0071c0048 a0071c0048	a0071c0048t0002 a0071c0048t0002	a0071c0048t0002g0087 a0071c0048t0002g0087	1	152	0.0066	432	c.299 others(453): Show c.2992-19159_2992-19158insTATATATATTATACATTATATATA ATGTATATTATATATTATATATAATATACATTATATATAATGTATAATAT ATATTATATATAATATACATTATATATAATGTATAATATATATTATATAT TATACATTATATATAATGTATAATATATATTATATATAATATACATTATA TATAATGTATAATATATATTATATAATATACATAATGTATATTATATATA ATATACATAATGTATATTATATATAATATACATAATGTATATTATATATA ATATACATAATGTATATTATATATAATATACATAATGTATATTATATATA ATATACATAATGTATATTATATATAATATACATAATGTATATTATATATA ATATACATAATGTATATTATATATAATATACATAATGTATATTATATATA ATATACAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKAP1_chr9_125432394_125712208	125458888	G G	GCGGGGTG others(425): Show GCGGGGTGCTGACCCCCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGG CGGGGGGCTGACCCCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGTGGCTGGCCGGGCGGGGTGCTGACCCCCCCACCTCC CTCCCGGACGGGGTGGCTGGCCAGGCGGGGGGCTGACGCCCCCACCTCCC TCCCGGATGGGGCGGCTGGCCTGGCGGGGGACTGACCCCCCCACCTCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0284	1	300	0.0033	432	c.134 others(451): Show c.1345+9083_1345+9084insTCCGGGAGGTGAGGGGCGCCTCTGCC CGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCC CGTCCGGGAGGAGGTGGGGGGGTCAGTCCCCCGCCAGGCCAGCCGCCCCA TCCGGGAGGGAGGTGGGGGCGTCAGCCCCCCGCCTGGCCAGCCACCCCGT CCGGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCACCCCGTC CGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAG CCCCTCTGCCCGGCCAGCCGCCCCATCTGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC ACCCCG	MAPKAP1	ENSG00000119487.17	transcript	ENST00000265960.8	protein_coding	10/11			chr9	TogoVar
MBNL3_chrX_132364320_132494038	132396679	T T	TATATATA others(425): Show TATATATATTCATATATATATATTCATATATAGATTCATATATAGATTCA TATATAGATTCATATATATTCATATATAGATTCATATATATTCATATATA GATTCATATATATATTCATATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATTCATATATATATTCATA TATATATTCATATATATATTCATATATATATTCATATATATATTCATATA TATATTCATATATATTCATATATATTCATATATATATTCATATATATATT CATATATATATTCATATATATTCATATATATATTCATATATATATTCATA TATATATTCATATATATTCATATATATTCATATATATTCATATATATATT CATATATATTCATATATATATTCATATATATTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	191	0.0052	432	c.343 others(449): Show c.343-4346_343-4345insGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATGAAT ATATATATGAATATATATATGAATATATATATGAATATATATGAATATAT ATATGAATATATATATGAATATATATATGAATATATATGAATATATATGA ATATATATATGAATATATATATGAATATATATATGAATATATATATGAAT ATATATATGAATATATATATGAATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATATGAATATATATAT GAATCTATATATGAATATATATGAATCTATATATGAATATATATGAATCT ATATATGAATCTATATATGAATCTATATATGAATATATATATATGAATAT ATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar
MBNL3_chrX_132364320_132494038	132396681	T T	TATATATT others(425): Show TATATATTCATATATATATTCATATATATATATTCATATATAGATTCATA TATATATTCATATATAGATTCATATATATTCATATATAGATTCATATATA TTCATATATAGATTCATATATATATTCATATATAGATTCATATATATATT CATATATATTCATATATATATTCATATATATTCATATATATATTCATATA TATATTCATATATATATTCATATATATTCATATATATTCATATATATATT CATATATATATTCATATATATATTCATATATATATTCATATATATATTCA TATATATTCATATATATATTCATATATATATTCATATATATTCATATATA TTCATATATATATTCATATATATATTCATATATATATTCATATATATTCA TATATATTCATATATATATTCATATATATATTC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	191	0.0052	432	c.343 others(449): Show c.343-4348_343-4347insGAATATATATATGAATATATATATGAAT ATATATGAATATATATGAATATATATATGAATATATATATGAATATATAT ATGAATATATATGAATATATATGAATATATATATGAATATATATATGAAT ATATATGAATATATATATGAATATATATATGAATATATATATGAATATAT ATATGAATATATATATGAATATATATGAATATATATGAATATATATATGA ATATATATATGAATATATATATGAATATATATGAATATATATATGAATAT ATATGAATATATATATGAATCTATATATGAATATATATATGAATCTATAT ATGAATATATATGAATCTATATATGAATATATATGAATCTATATATGAAT ATATATATGAATCTATATATGAATATATATATATGAATATATATATGAAT ATAT	MBNL3	ENSG00000076770.16	transcript	ENST00000370853.8	protein_coding	3/8			chrX	TogoVar

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