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
FAM8A1_chr6_17595302_17616715	17596493	C C	CAAAAGAG others(288): Show CAAAAGAGTTGACCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGG TCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACT AAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAG CTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGC TTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 NA20805.hp1 HG03195.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0011 a0005c0005t0006 a0001c0001t0011 a0005c0005t0006	a0001c0001t0011g0030 a0005c0005t0006g0052 a0001c0001t0011g0030 a0005c0005t0006g0052	2	366	0.0055	295	c.-39 others(306): Show c.-3917_-3916insAAAAGAGTTGACCAGCACTTTGGGAGGCCGAGGC GGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAA	FAM8A1	ENSG00000137414.7	transcript	ENST00000259963.4	protein_coding		3808		chr6	TogoVar
FHAD1_chr1_15242223_15403328	15388335	C C	CCCCTCCC others(288): Show CCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTT CCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCCTCCCCAGCCCCTGC CCCACCTCCCTCCCTCCCTCCCTCCTTCCCTTCCCTCCCCAGTCCCTGTC CAACCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCTCCCCAGTCCCT GCCCCACCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGCCCCACCTCCCT CCCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTCCCTCCATT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG06807.hp1 NA19240.hp1 HG02896.hp1 HG06807.hp1 NA19240.hp1	a0002 a0058 a0002 a0058	a0002c0018 a0002c0080 a0058c0126 a0002c0018 a0002c0080 a0058c0126	a0002c0018t0018 a0002c0080t0019 a0058c0126t0019 a0002c0018t0018 a0002c0080t0019 a0058c0126t0019	a0002c0018t0018g0153 a0002c0080t0019g0181 a0058c0126t0019g0185 a0002c0018t0018g0153 a0002c0080t0019g0181 a0058c0126t0019g0185	3	123	0.0244	295	c.426 others(312): Show c.4269+214_4269+215insCCCCTGCCCCACCTCCCTCCCTCCCTCC CTCCTTCCCTTCCCTCCCCAGCCCCTGCCCCACCTCCCTCCCTCCCCTCC CCAGCCCCTGCCCCACCTCCCTCCCTCCCTCCCTCCTTCCCTTCCCTCCC CAGTCCCTGTCCAACCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCCT CCCCAGTCCCTGCCCCACCTCCCTCCCTCCCTTCCCTCCCCAGTCCCTGC CCCACCTCCCTCCCTCCCTTCCCTCCTCAGGCCCTGCCCCACCTCCCTCC CTCCATTCCCTCCCCAG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	32/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(288): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0322 a0004c0008t0002g0322	1	260	0.0038	295	c.189 others(314): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCAC CACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(288): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19002.hp1 NA18943.hp2 NA19002.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0008 a0001c0003t0001g0007 a0001c0003t0001g0008	2	261	0.0077	295	c.189 others(314): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXP1_chr3_70949708_71588728	71139606	A A	ATGGGAAA others(288): Show ATGGGAAATGAACTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0063 a0001c0001t0042g0063	1	88	0.0114	295	c.181 others(314): Show c.181-26970_181-26969insGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAGAGTTCATTTCCCA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	6/20			chr3	TogoVar
FRK_chr6_115926149_116065891	115985917	T T	TAGAATGC others(288): Show TAGAATGCTGAGTGCTTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCTGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02257.hp2 HG02622.hp2 others(4): Show HG02074.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp1 NA19067.hp2 NA19078.hp2 NA20300.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0005 a0002c0002 a0004c0005	a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 others(1): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0007 a0004c0005t0002	a0002c0002t0001g0014 a0002c0002t0002g0012 a0002c0002t0002g0092 others(4): Show a0002c0002t0001g0014 a0002c0002t0002g0012 a0002c0002t0002g0092 a0002c0002t0007g0155 a0002c0002t0007g0156 a0002c0002t0007g0158 a0004c0005t0002g0095	7	189	0.0370	295	c.467 others(314): Show c.467-17179_467-17178insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGG GATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTTTTAGCCGGG ATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG TGCAAGCACTCAGCATTCT	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	2/7			chr6	TogoVar
GAK_chr4_844277_937316	903586	G G	GCTGAGGA others(288): Show GCTGAGGAAGGAGCGTGGGATGAGCAGGAGTGCGGGGCCTGAACTGACAC CACCAGGGGACTGAGGAAGGAGCGTGGGGTGAGCAGGAATGCGGGGCCTG AACTGACACCACCAGGGGACTGAGGAAGGAGCGTGGGGTGAGCAGGAGTG CGGGGCCTGAACTGACACCACCAGGGGACTGAGGAAGGAGCGTGGGGTGA GCAGGAGTGCGGGGCCTGAACTGACACCACCAGGGGACTGAGGAAGGAGC GTGGGGTGAGCAGGAATGCGGGGCCTGAACTGACACCACCAGGGGA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0163 a0002c0003t0001g0163	1	387	0.0026	295	c.525 others(312): Show c.525+1050_525+1051insTCCCCTGGTGGTGTCAGTTCAGGCCCCG CATTCCTGCTCACCCCACGCTCCTTCCTCAGTCCCCTGGTGGTGTCAGTT CAGGCCCCGCACTCCTGCTCACCCCACGCTCCTTCCTCAGTCCCCTGGTG GTGTCAGTTCAGGCCCCGCACTCCTGCTCACCCCACGCTCCTTCCTCAGT CCCCTGGTGGTGTCAGTTCAGGCCCCGCATTCCTGCTCACCCCACGCTCC TTCCTCAGTCCCCTGGTGGTGTCAGTTCAGGCCCCGCACTCCTGCTCATC CCACGCTCCTTCCTCAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	5/27			chr4	TogoVar
GFRA2_chr8_21685398_21793875	21697084	A A	ACAGAGGA others(288): Show ACAGAGGAAAGGGGAAGGGACAGAGGAGAAGGGAGGGGAGAGAAGGGGAA GGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGATGGGAGGGGAGAGAAG GGGAAGGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGAGGGGAGGGGAC AGAGGAGAGGGGAGGGGACAGAGGGTAAGGGGACAGAGGAGGGGGGGAGG GGACACAGGAGAGGAGGGGACAGAGGATGAGGGAGGGAACAGAGGGGAGG GGAAGGGACAGAGGAGAGGGGAGGGGTCACAGGAGAGGGGAGGGGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0301 a0001c0006t0007g0301	1	7	0.1429	295	c.121 others(314): Show c.1219-2568_1219-2567insGCCCCTCCCCTCTCCTGTGACCCCTC CCCTCTCCTCTGTCCCTTCCCCTCCCCTCTGTTCCCTCCCTCATCCTCTG TCCCCTCCTCTCCTGTGTCCCCTCCCCCCCTCCTCTGTCCCCTTACCCTC TGTCCCCTCCCCTCTCCTCTGTCCCCTCCCCTCTCCTCTGTCCCTTCCCC TCTGCCTCTGTCCCCTTCCCCTTCTCTCCCCTCCCATCTCCTCTGTCCCT TCCCCTCTGCCTCTGTCCCCTTCCCCTTCTCTCCCCTCCCTTCTCCTCTG TCCCTTCCCCTTTCCTCTG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21697084	A A	ACAGAGGA others(288): Show ACAGAGGAAAGGGGAAGGGACAGAGGAGAAGGGAGGGGAGAGAAGGGGAA GGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGATGGGAGGGGGAGAGAA GGGGAAGGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGAGGGGAGGGGA CAGAGGAGAGGGGAGGGGACAGAGGGTAAGGGGACAGAGGAGGGGGGAGG GGACACAGGAGAGGAGGGGACAGAGGATGAGGGAGGGAACAGAGGGGAGG GGAAGGGACAGAGGAGAGGGGAGGGGTCACAGGAGAGGGGAGGGGC	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0238 a0001c0001t0004g0238	1	7	0.1429	295	c.121 others(314): Show c.1219-2568_1219-2567insGCCCCTCCCCTCTCCTGTGACCCCTC CCCTCTCCTCTGTCCCTTCCCCTCCCCTCTGTTCCCTCCCTCATCCTCTG TCCCCTCCTCTCCTGTGTCCCCTCCCCCCTCCTCTGTCCCCTTACCCTCT GTCCCCTCCCCTCTCCTCTGTCCCCTCCCCTCTCCTCTGTCCCTTCCCCT CTGCCTCTGTCCCCTTCCCCTTCTCTCCCCCTCCCATCTCCTCTGTCCCT TCCCCTCTGCCTCTGTCCCCTTCCCCTTCTCTCCCCTCCCTTCTCCTCTG TCCCTTCCCCTTTCCTCTG	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21697127	A A	AGGGGAAG others(288): Show AGGGGAAGGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGATGGGAGGGG AGAGAAGGGGAAGGGGACAGAGGCAGAGGGGAAGGGACAGAGGAGAGGGG AGGGGACAGAGGAGAGGGGAGGGGACAGAGGGTAAGGGGACAGAGGAGGG GGGAGGGGACACAGGAGAGGAGGGGACAGAGGATGAGGGAGGGAACAGAG GGGAGGGGAAGGGACAGAGGAGAGGGGAGGGGTCACAGGAGAGGGGAGGG GCCAGAGGAAAGGGGAAGGGACAGAGGAGAGGGGAGGGGAGAGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18977.hp2 HG00438.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0079 a0001c0003t0001g0173 a0001c0001t0001g0079 a0001c0003t0001g0173	2	320	0.0063	295	c.121 others(314): Show c.1219-2611_1219-2610insCTTCTCTCCCCTCCCCTCTCCTCTGT CCCTTCCCCTTTCCTCTGGCCCCTCCCCTCTCCTGTGACCCCTCCCCTCT CCTCTGTCCCTTCCCCTCCCCTCTGTTCCCTCCCTCATCCTCTGTCCCCT CCTCTCCTGTGTCCCCTCCCCCCTCCTCTGTCCCCTTACCCTCTGTCCCC TCCCCTCTCCTCTGTCCCCTCCCCTCTCCTCTGTCCCTTCCCCTCTGCCT CTGTCCCCTTCCCCTTCTCTCCCCTCCCATCTCCTCTGTCCCTTCCCCTC TGCCTCTGTCCCCTTCCCC	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	7/8			chr8	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(288): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0120 a0001c0001t0074g0120	1	14	0.0714	295	c.229 others(314): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTT CCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTC CCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCC TCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCTCCC TCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCC TCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(288): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCGCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	8	0.1250	295	c.31 others(306): Show c.3125_*3126insGCGGGGGGGGGGAGGGGCGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795593	T T	TGCTGCCC others(288): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCC CCGGCCCCGTGCCGCCCCGCCCCGCCCCTCCCCTCCCCCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	8	0.1250	295	c.31 others(306): Show c.3125_*3126insGCGGGGGGGGGGAGGGGAGGGGCGGGGCGGGGCG GCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGG GGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGCACGGGGCCGG GGGCAGCCACACGGGCAGTGTGGTTGGGGGAGAAGGGCACGGGGCCGGGG GCAGCCACACGGGCAGTGTGGTTGGGGGGGGGGCACGGGGCCGGGGGCAG CCACACGGGCAGTGTGTTTGGGGGGGAGGGGCACGGGGCCGGGGGCAGCC ACACGGGCAGC	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2447		chr16	TogoVar
GNG13_chr16_793041_805734	795610	C C	CCCCCGGC others(288): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCG GCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCTCCC CGCCCCGCCCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18987.hp1 NA19074.hp2 NA18987.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	415	0.0048	295	c.31 others(306): Show c.3108_*3109insACAGCCACACGGGCAGCGCGGGGGGGGGGAGGGG AGGGGCGGGGCGGGGAGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGT GGTTGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGG GGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGAGA AGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGGGG CACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGGGCA CGGGGCCGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2430		chr16	TogoVar
GPC5_chr13_91393621_92872237	92162054	T T	TAAGATTT others(288): Show TAAGATTTTTTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCTGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGT GTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATGGCGCCACAGCAC TCCTGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 NA19043.hp2 HG03041.hp2 HG06807.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0014 a0001c0001t0002g0042 a0002c0002t0002g0038 a0001c0001t0002g0014 a0001c0001t0002g0042 a0002c0002t0002g0038	3	40	0.0750	295	c.156 others(316): Show c.1561+17078_1561+17079insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CTGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCAGAAGGCGGAGCTTGCAGTGAGCGGAGATG GCGCCACAGCACTCCTGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAA AAAAAAAAAAGATTTTTTGTC	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143211636	G G	GGGGGAGG others(288): Show GGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGGGGGAGGCGGGGCGTG GGGGAGGAGGGGTGAAGATGACGGGAGGCGGTGCACGGGGGAGGCGGGGC ACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCTGGGGAGAAGGGGCGA ATGGGGGGCGGGGCGATGGGGAGGCGGGGCGACGGGAAGTAGGGGCAGTG GGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGGAGGCGGGGCACCAGG GAAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02258.hp2 others(6): Show HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp2 HG02886.hp2 HG03041.hp2 HG03225.hp1 HG03579.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0008 a0001c0003t0010 a0001c0003t0003 a0001c0003t0008 a0001c0003t0010	a0001c0003t0003g0002 a0001c0003t0003g0018 a0001c0003t0008g0002 others(1): Show a0001c0003t0003g0002 a0001c0003t0003g0018 a0001c0003t0008g0002 a0001c0003t0010g0002	9	81	0.1111	295	c.-16 others(306): Show c.-1632_-1631insGGGGAGGCGGGGCGTGAGAGAGGCGGGGCAGTGG GGGAGGCGGGGCGTGGGGGAGGAGGGGTGAAGATGACGGGAGGCGGTGCA CGGGGGAGGCGGGGCACAGGAGAGGCGGGTCGACAGGGAGGTGGGACGCT GGGGAGAAGGGGCGAATGGGGGGCGGGGCGATGGGGAGGCGGGGCGACGG GAAGTAGGGGCAGTGGGGGAGGCGGGGCATGGGGTAGACAGGTGTGGGGG AGGCGGGGCACCAGGGAAGCGGGGCGTGGGGGGAGGCGGGGCGTGAGAGA GGCGGGGCAGT	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1581		chr8	TogoVar
GPR157_chr1_9095305_9134102	9116190	A A	AATATAAT others(288): Show AATATAATTATATATATTTATATTATATATATTATATATAATATAATTAT ATATAATTATATTATATATATTATATATAATATAATTATATATAATTATA TTATATATATTATATATAATATAATTATATTATATATATATTATATTATA TATAATTATATATAATTATATTATATATTATATGTAATATAAATATATAT AATTATATTATATATATTATATGTAATATAATTATATATATTTATATTAT ATATTATATATAATATAATTATATATATAATTATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0023 a0003c0003t0023	a0003c0003t0023g0253 a0003c0003t0023g0253	1	396	0.0025	295	c.384 others(312): Show c.384-4702_384-4701insATAATATATATTATAATTATATATATAA TTATATTATATATAATATATAATATAAATATATATAATTATATTACATAT AATATATATAATATAATTATATATATTTATATTACATATAATATATAATA TAATTATATATAATTATATATAATATAATATATATATAATATAATTATAT TATATATAATATATATAATATAATTATATATAATTATATTATATATAATA TATATAATATAATTATATATAATTATATTATATATAATATATATAATATA AATATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116228	A A	AATATAAT others(288): Show AATATAATTATATATAATTATATTATATATATTATATATAATATAATTAT ATATAATTATATTATATATATTATATATAATATAATTATATATAATTATA TTATATATATTATATATAATATAATTATATTATATATATATTATATTATA TATAATTATATATAATTATATTATATATTATATGTAATATAAATATATAT AATTATATTATATATATTATATGTAATATAATTATATATATTTATATTAT ATATTATATATAATATAATTATATATATAATTATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18982.hp1 NA18986.hp1 HG02698.hp2 NA18982.hp1 NA18986.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0004 a0003c0003t0085 a0003c0003t0002 a0003c0003t0004 a0003c0003t0085	a0003c0003t0002g0280 a0003c0003t0004g0260 a0003c0003t0085g0262 a0003c0003t0002g0280 a0003c0003t0004g0260 a0003c0003t0085g0262	3	362	0.0083	295	c.384 others(312): Show c.384-4740_384-4739insATAATATATATTATAATTATATATATAA TTATATTATATATAATATATAATATAAATATATATAATTATATTACATAT AATATATATAATATAATTATATATATTTATATTACATATAATATATAATA TAATTATATATAATTATATATAATATAATATATATATAATATAATTATAT TATATATAATATATATAATATAATTATATATAATTATATTATATATAATA TATATAATATAATTATATATAATTATATTATATATAATATATATAATATA ATTATATATAATTATAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116281	A A	ATTTATAT others(288): Show ATTTATATTATATATATTATATATAATATAATTATATATATTTATATTAT ATATATTATATATAATATAATTATATATAATTATATTATATATATTATAT TATATATAATTATATATAATTATATTATATATTATATGTAATATAAATAT ATATAATTATATTATATATATTATATGTAATATAATTATATATATTTATA TTATATATTATATATAATATAATTATATATATAATTATAATATATATTAT ATATAATATAATTATATATATAATTTATATATATTATATATAATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0025 a0005c0005t0025	a0005c0005t0025g0088 a0005c0005t0025g0088	1	255	0.0039	295	c.384 others(312): Show c.384-4793_384-4792insATATTATATATAATATATATAAATTATA TATATAATTATATTATATATAATATATATTATAATTATATATATAATTAT ATTATATATAATATATAATATAAATATATATAATTATATTACATATAATA TATATAATATAATTATATATATTTATATTACATATAATATATAATATAAT TATATATAATTATATATAATATAATATATATAATATAATTATATATAATT ATATTATATATAATATATATAATATAAATATATATAATTATATTATATAT AATATATATAATATAAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPRIN1_chr5_176590802_176615156	176591689	A A	ATGATGGT others(288): Show ATGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTG ATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATGGTT GTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTGATG GTTGTGATGGTGATGGTGGTGATGATGGTGTTGGTGTTGAGGTGATGGTG ATGGTTGTGATGGTGATGGTGGTGATGATGGTGATGATGACGATGGTGGT GGTGGTGGTGGTGTTGGTGTTGAGGTGATGGTGATGGTTGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp2 NA19078.hp2 NA19001.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0082 a0001c0001t0001g0013 a0001c0001t0001g0082	2	254	0.0079	295	c.51 others(306): Show c.5118_*5119insCCATCACAACCATCACCATCACCTCAACACCAAC ACCACCACCACCACCACCATCGTCATCATCACCATCATCACCACCATCAC CATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCACCAT CACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCACCAC CATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCATCAC CACCATCACCATCACAACCATCACCATCACCTCAACACCAACACCATCAT CACCACCATCA	GPRIN1	ENSG00000169258.7	transcript	ENST00000303991.5	protein_coding		4112		chr5	TogoVar
GRM7_chr3_6856115_7746533	7497058	T T	TAAGATTT others(288): Show TAAGATTTACCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAG CTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGC TTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0074 a0001c0005t0001g0074	1	76	0.0132	295	c.151 others(316): Show c.1515+35346_1515+35347insCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGG CGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAG CCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAGATTTACC	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(288): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG02723.hp2 HG03195.hp1 HG01070.hp2 HG02723.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0014 a0001c0003t0029 a0001c0003t0002 a0001c0003t0014 a0001c0003t0029	a0001c0003t0002g0239 a0001c0003t0014g0241 a0001c0003t0029g0242 a0001c0003t0002g0239 a0001c0003t0014g0241 a0001c0003t0029g0242	3	227	0.0132	295	c.-48 others(306): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTC AGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAA TTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG TCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCAC ATTGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
GZMM_chr19_539053_554922	545099	A A	ATCCCTCC others(288): Show ATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTTTG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0097 a0003c0010t0001g0097	1	353	0.0028	295	c.55+ others(308): Show c.55+984_55+985insCTCCACCCGTCATCCCTCCCTCCCTCCTTCCA TGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCT TCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCC TTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATCCACCCATC CATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCC CATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTT TGTCCCTCCTTCC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
GZMM_chr19_539053_554922	545099	A A	ATCCCTCC others(288): Show ATCCCTCCTTCCCTCCACCCGTCATCCCTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCGTCCCTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02258.hp1 HG02572.hp2 others(1): Show HG01243.hp2 HG02258.hp1 HG02572.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0003g0088 a0001c0005t0001g0035 a0001c0005t0001g0090 a0001c0001t0003g0088 a0001c0005t0001g0035 a0001c0005t0001g0090	4	356	0.0112	295	c.55+ others(308): Show c.55+984_55+985insCTCCACCCGTCATCCCTCCCTCCCTCCTTCCA TGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCT TCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCC TTCCCTCCACCCGTCGTCCCTCCCTCCCTCCTTCCATGTATCCACCCATC CATCCATCATGACTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCC CATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTT TGTCCCTCCTTCC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
GZMM_chr19_539053_554922	545099	A A	ATCCCTCC others(288): Show ATCCCTCCTTCCCTCCACCCGTCATCCTTCCCTCCCTCCTTCCATGTATC CACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTC CTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCCT CCACCCGTCATCCTTCCCTCCCTCCTTCCATGTATCCACCCATCCATCCA TCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCCCATCCA TCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTTTG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp1 HG01515.hp1 others(8): Show HG01255.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02015.hp2 HG02148.hp1 HG02723.hp1 HG02735.hp1 HG03209.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0011 a0001c0001 a0001c0003 a0001c0011	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0011t0001	a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0003t0001g0017 a0001c0003t0002g0017 a0001c0003t0002g0067 a0001c0003t0002g0208 a0001c0011t0001g0073	11	363	0.0303	295	c.55+ others(308): Show c.55+984_55+985insCTCCACCCGTCATCCTTCCCTCCCTCCTTCCA TGTATCCACCCATCCATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCT TCCCTCCTCCCTCCCATCCATCCATCATCCATCCCTCCTTCCATCCCTCC TTCCCTCCACCCGTCATCCTTCCCTCCCTCCTTCCATGTATCCACCCATC CATCCATCATGCCTCTCTCTTCCTTTCCCCCCTCCTTCCCTCCTCCCTCC CATCCATCCATCATCCATCCCTCCTTCCATCCCTCCTTCCTCCCTCCCTT TGTCCCTCCTTCC	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
HCN1_chr5_45249948_45701380	45257948	C C	CAGTATGA others(288): Show CAGTATGAGTACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0075 a0001c0001t0023g0075	1	216	0.0046	295	c.39 others(306): Show c.3972_*3973insAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA GTACTCATACT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	8/8	3972		chr5	TogoVar
HOMEZ_chr14_23267422_23291132	23280780	T T	TTTATTTT others(288): Show TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATCTTATCTTATCTTATCTTATCTTATC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0230 a0001c0002t0002g0230	1	390	0.0026	295	c.41- others(310): Show c.41-3594_41-3593insGATAAGATAAGATAAGATAAGATAAGATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAA	HOMEZ	ENSG00000290292.10	transcript	ENST00000357460.7	protein_coding	1/1			chr14	TogoVar
HS3ST2_chr16_22809162_22921338	22818800	C C	CCTTCCTT others(288): Show CCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTTCCGTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCC TTCCCTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTC CCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02559.hp1 NA19240.hp1 HG01975.hp2 HG02559.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0002t0005g0127 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0002t0005g0127	3	85	0.0353	295	c.485 others(312): Show c.485+3706_485+3707insTTCCTTCCTCCCTCCCTCCCTCCCTTCC TTCCTTCCTTCCTTCCTTCATTCCTTCCTTCCGTCCTTCCCTCCTTCCTT CCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCA TTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCC TTCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTT CCTTCCTTCCCTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B14_chr19_48808018_48841491	48834567	C C	CCTGGACT others(288): Show CCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGG GTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTA GGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGT CTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18967.hp2 NA18969.hp1 others(2): Show HG03654.hp1 NA18967.hp2 NA18969.hp1 NA19081.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0149 a0001c0001t0001g0205 a0001c0001t0001g0206	5	372	0.0134	295	c.128 others(310): Show c.128-504_128-210dupACCTCAGCCCCTCCTCCCTCAGACCCAGGA GTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCA GCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTCCCT CAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGT CCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGC CCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCG GACCCAGGAGTCCAG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
HSDL2_chr9_112375108_112477405	112388798	G G	GCAGACTG others(288): Show GCAGACTGTATTTTTCTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTG TGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCT GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCCGGC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	335	0.0030	295	c.17+ others(310): Show c.17+8633_17+8634insTTTTTCTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTC ACTGTGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCAAGCCCGGC CAGACTGTATTTTTC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
HSDL2_chr9_112375108_112477405	112388798	G G	GCAGACTG others(288): Show GCAGACTGTATTTTTCTTTTTCTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTCACTG TGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCT GCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02273.hp1 HG02559.hp2 others(18): Show HG01433.hp1 HG02273.hp1 HG02559.hp2 NA18944.hp1 NA18945.hp1 NA18948.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18981.hp1 NA18993.hp2 NA18999.hp1 NA19001.hp1 NA19012.hp1 NA19063.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(17): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0002g0019 a0001c0001t0002g0025 a0001c0001t0002g0028 a0001c0001t0007g0020 a0001c0001t0007g0026 a0001c0001t0007g0029 a0001c0001t0008g0014 a0001c0001t0008g0015 a0001c0001t0015g0057 a0001c0001t0018g0023	21	355	0.0592	295	c.17+ others(310): Show c.17+8633_17+8634insTTTTTCTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGGCGGGGTTTC ACTGTGATAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC CAGACTGTATTTTTC	HSDL2	ENSG00000119471.15	transcript	ENST00000398805.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
IFNAR1_chr21_33319970_33364864	33322909	T T	TGGAATAT others(288): Show TGGAATATATATATGGAATATATATATGGAATATATATGGAATACATATA TATGGAATATATATATGGAATACATATATATGGAATACATATATATGGAA TACACATATGGAATACATATATATGGAATACACATATGGAATACATATAT ATGGAATACATATATGGAATACATATATATGGAATACATATATGGAATAC ATATATATGGAATACATATATGGAATACATATATATGGAATACATATATG GAATACATATATGTGGAATACATATATGGAATATATATATATGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0203 a0002c0002t0002g0203	1	62	0.0161	295	c.-21 others(306): Show c.-2147_-2146insGGAATATATATATGGAATATATATATGGAATATA TATGGAATACATATATATGGAATATATATATGGAATACATATATATGGAA TACATATATATGGAATACACATATGGAATACATATATATGGAATACACAT ATGGAATACATATATATGGAATACATATATGGAATACATATATATGGAAT ACATATATGGAATACATATATATGGAATACATATATGGAATACATATATA TGGAATACATATATGGAATACATATATGTGGAATACATATATGGAATATA TATATATGTGG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2060		chr21	TogoVar
INPP5A_chr10_132532787_132788480	132775188	G G	GGGGCAGG others(288): Show GGGGCAGGGAGGAGGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGG CAGGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAG GAGAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGA GGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAG GGAGGAGGGGCAGGGAGGAGAGAGGGGCAAGGAGGAGGGGCAGGGA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03098.hp1 HG02723.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0018 a0001c0001t0002g0019	2	14	0.1429	295	c.978 others(312): Show c.978-2481_978-2480insGCAGGGAGGAGGGGGGGCAGGGAGGAGG GACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAGGAGAGACAGGC AGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAAG GAGGAGGGGCAGGGAGG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
IRF4_chr6_386752_416443	397055	C C	CCCCCGTC others(288): Show CCCCCGTCTCGATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACTCCTT TAACCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCC TTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCACT CCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCTCCTGCA CTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCCTG CACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	424	0.0024	295	c.493 others(308): Show c.493-44_493-43insGATGCCAGTGCTTCCTATCTCAGCCTCTCCTG CACTCCTTTAACCCCGTCTCGATGCCAGTGCTTCTTATCTCAGCCTCTCC TGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCTCT CCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCAGCCT CTCCTGCACTCCTTTACCCCCGTCTCGATGCCAGTGCTTCTTATCTCAGC CTCTCCTGCACTCCTTTACCCCCGTCTCAATGCCAGTGCTTCCTATCTCA GCCTCCCCGTCTC	IRF4	ENSG00000137265.16	transcript	ENST00000380956.9	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
KCNJ6_chr21_37602373_37921457	37756919	G G	GAGTGAGC others(288): Show GAGTGAGCACTCCCTCACAGCATGATGGTTCCAGCCCAAGTGAGCACTCC CTCACAGATTCCAGCCCGGAGTGAGCACTCCCTCACAGTGTGATGATTCC AGCCCGGAGTGAGCTCTCCCTCACAGTGTGATGATTCCAGCCCAGAGTGA GCACTCTCTCACAGTGTGATGATTCCAGCCCGGAGTGAGCTCTCCCTCAC AGCGTGATGATTCCAGCCTGGAGTGAGCACTCCCTCACAGCGTGATGATT CCAGCCTGGAGTGAGCACTCCCTCACAGCATGATGGTTCCAGCCCA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0075 a0001c0001t0032g0075	1	196	0.0051	295	c.26- others(312): Show c.26-41789_26-41788insTGGGCTGGAACCATCATGCTGTGAGGGA GTGCTCACTCCAGGCTGGAATCATCACGCTGTGAGGGAGTGCTCACTCCA GGCTGGAATCATCACGCTGTGAGGGAGAGCTCACTCCGGGCTGGAATCAT CACACTGTGAGAGAGTGCTCACTCTGGGCTGGAATCATCACACTGTGAGG GAGAGCTCACTCCGGGCTGGAATCATCACACTGTGAGGGAGTGCTCACTC CGGGCTGGAATCTGTGAGGGAGTGCTCACTTGGGCTGGAACCATCATGCT GTGAGGGAGTGCTCACT	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	2/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(288): Show TATATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATA TAAAATATATAAAATAGATATTATATATAAAATATATATAATATATATAT AAAATAGATATTATATATAAAATATATATTATATATTATATAAAATATAT ATTATATATTATATAATATATAATATATATTATATATATTATATATTATA TATTAAATATATATTATATATATATAATATATATTAAATATATATTATAT AAAATATATATTATATATAAAATATATATTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18960.hp1 HG02129.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0007 a0001c0001t0019	a0001c0001t0007g0035 a0001c0001t0019g0029 a0001c0001t0007g0035 a0001c0001t0019g0029	2	202	0.0099	295	c.963 others(314): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATATATATATAATATATATTAA ATATATATTATATAAAATATATATTATATATAAAATATATATTATATATA AAATATATAATATATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209562	A A	ATATATAA others(288): Show ATATATAAAATAGATATTATATATAAAATATATAAAATAGATATATATAA AATATATAAAATAGATATTATATATAAAATATATATAATATATATATAAA ATAGATATTATATATAAAATATATATTATATATTATATAAAATATATATT ATATATTATATAATATATAATATATATTATATATATTATATATTATATAT AAAATATATATTATATATATAAAATATATATAAAATATATATTATATAAA ATATATATAAAATATATATTATATAAAATATATATAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	227	0.0044	295	c.963 others(314): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATAAAATATATATTATATATATAAAATATATATAAA ATATATATTATATAAAATATATATAAAATATATATTATATAAAATATATA TAAAATATATATTATATAA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNK2_chr1_215077737_215242090	215209580	A A	ATATATAA others(288): Show ATATATAAAATATATAAAATAGATATATATAAAATATATAAAATAGATAT TATATATAAAATATATATAATATATATATAAAATAGATATTATATATAAA ATATATATTATATATTATATAAAATATATATTATATATTATATAATATAT AATATATATTATATATATTATATATTATATAATATATAATATATATTATA TATATTATATATTATATAATATATAATATATTATATATATTATATATTAT ATATTAAATATATATTATATATATATAATATATATTAAATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	254	0.0039	295	c.963 others(314): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATAATATATAATAT ATATTATATATATTATATATTATATAATATATAATATATTATATATATTA TATATTATATATTAAATATATATTATATATATATAATATATATTAAATAT ATATTATATAAAATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KCNMB2_chr3_178531436_178849429	178758786	T T	TCTCCAAA others(288): Show TCTCCAAAAGGAGATATATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATA TATATATATATATATATCTCCAAGAGGAGATATATATATATATATATCTC CAAGAGGGATATATATATATATATATATATATATATATATCTCCAAGAGG GATATATATATATATATATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0077 a0001c0001t0002g0077	1	178	0.0056	295	c.-67 others(314): Show c.-67-48557_-67-48556insCTCCAAAAGGAGATATATATATATAT ATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATAT ATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATAT ATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAGG AGATATATATATATATATATCTCCAAGAGGGATATATATATATATATATA TATATATATATATCTCCAAGAGGGATATATATATATATATATATATATAT ATATATATCTCCAAGAGGG	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4			chr3	TogoVar
KCNT2_chr1_196220779_196613440	196437080	T T	TATAAATA others(288): Show TATAAATATATATTTATATACATAAATATATTTATATATAAATATATATT TTTATATATATTTATGTATATATTTATATATAAATATATATTTATATATT TATATATATTTATGTATATATATAAATATATATAAATATATATTTATATA TTTATATATTATATACATAAATATATATTTATATATATTTATATACATAA ATATATATTTATATATATTTATATACATAAATATATATTTATATATATTT ATATATATTTATATACATAAATATATATTTATATATATTTATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG02451.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0037 a0001c0001t0003g0036 a0001c0001t0001g0037 a0001c0001t0003g0036	2	51	0.0392	295	c.639 others(312): Show c.639-7324_639-7323insGTATATAAATATATATAAATATATATTT ATGTATATAAATATATATAAATATATATAAATATATATTTATGTATATAA ATATATATAAATATATATTTATGTATATAAATATATATAAATATATATTT ATGTATATAATATATAAATATATAAATATATATTTATATATATTTATATA TATACATAAATATATATAAATATATAAATATATATTTATATATAAATATA TACATAAATATATATAAAAATATATATTTATATATAAATATATTTATGTA TATAAATATATATTTAT	KCNT2	ENSG00000162687.19	transcript	ENST00000294725.14	protein_coding	8/27			chr1	TogoVar
KIF25_chr6_167992671_168050091	167997382	G G	GGGGGCGG others(288): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG CGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGCG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	361	0.0028	295	c.-20 others(306): Show c.-2087_-2086insGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGG GAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGCGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGAT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		288		chr6	TogoVar
KLF12_chr13_73681089_74139404	74065221	C C	CTGTATAC others(288): Show CTGTATACTATATATATATACACACTGTATACTATATATATATACACACT GTATACTATATATATATATATATATATATATAGTATATATATATATATAT ACACACTGTATACTATATATATATACACACTGTATACTATATATATATAC ACACTGTATACTATATATATATACACACTGTATACTATATATATATATAT ACTGTATACTATATACTGTATACTATATACTATATACTGTATACTATATA TATACTATATATATATATATACAGTATATATATATATATACTGTAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0042 a0001c0002t0007g0042	1	110	0.0091	295	c.-32 others(314): Show c.-32+68750_-32+68751insATACAGTATATATATATATATACTGT ATATATATATATATAGTATATATATAGTATACAGTATATAGTATATAGTA TACAGTATATAGTATACAGTATATATATATATATAGTATACAGTGTGTAT ATATATATAGTATACAGTGTGTATATATATATAGTATACAGTGTGTATAT ATATATAGTATACAGTGTGTATATATATATATATATACTATATATATATA TATATATATATATAGTATACAGTGTGTATATATATATAGTATACAGTGTG TATATATATATAGTATACA	KLF12	ENSG00000118922.19	transcript	ENST00000703967.1	protein_coding	1/7			chr13	TogoVar
KLHL17_chr1_955584_970719	964630	G G	GGGCGGGT others(288): Show GGGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAGTGGGGCGCGGGTCCGC AGTGGGGCTGTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCGG GGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTCC GCAGTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGATG TGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGATGTGCTGCCGGGAG GGGGGCGCGGGTCCGCAGTGGGGCTGTGCTGCGGGAAGGGGGGGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0016 a0001c0009t0008g0016	1	218	0.0046	295	c.170 others(312): Show c.1700+100_1700+101insGGCGGGTCCGCAGTGGGGATGTGCTGCC GGGAGTGGGGCGCGGGTCCGCAGTGGGGCTGTGGGAGGGGTCCGCGCGTC CGCAGTGGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCAGTGGGGCT GTGGGAGGGGTCCGCGCGTCCGCAGTGGGGATGTGCTGCCGGGAGGGGGG CGCGGGTCCGCAGTGGGGATGTGCTGCGGGGAGGGGGGCGCGGGTCCGCA GTGGGGATGTGCTGCCGGGAGGGGGGCGCGGGTCCGCAGTGGGGCTGTGC TGCGGGAAGGGGGGGGC	KLHL17	ENSG00000187961.15	transcript	ENST00000338591.8	protein_coding	11/11			chr1	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(288): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	354	0.0028	295	c.997 others(312): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACC ACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LMF1_chr16_848634_975984	859364	G G	GAGTGATG others(288): Show GAGTGATGTCACGGGACGTGTGTGAGTGGTGTCTCGGGACGTGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGAGTGATGTCTCGGGACCGGTGTGAGTGGTGTCAC GGGACCGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGGG ACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGG GTGTGAGTGGTGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0285 a0001c0002t0002g0285	1	157	0.0064	295	c.153 others(314): Show c.1530-4659_1530-4658insACACCCGTCCCGAGACACCACTGCAC ACCCGTCCCACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTG ACACCACTCACACCGGTCCCGTGACACCACTCACACCGGTCCCGAGACAT CACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACT CACACCCGTCCCGAGACACCACTCACACACGTCCCGAGACACCACTCACA CACGTCCCGTGACATCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	895822	T T	TGCAGGCT others(288): Show TGCAGGCTGCACGGTCCACACACACGCCTCGGAGGGGTTGTGAGGCTCAG CCACCCACACGCAGGCTGCACGGTCCACACACACGCCTCGGAGGGGTTGT GAGGCTCAGCCACCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGG AGGGGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGGTCCACAGAC ACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGG TCCACACACACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACAC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp2 NA18522.hp2 HG00738.hp2 HG02622.hp2 NA18522.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101 a0001c0012t0001g0098 a0001c0012t0001g0099 a0001c0012t0001g0101	3	292	0.0103	295	c.664 others(312): Show c.664-2751_664-2750insGTGTGGGTGGCTGAGCCTCACAACCCCT CCGAGGCGTGTGTGTGGACCGTGCAGCCTGCGTGTGGGTGGCTGAGCCTC ACAACCCCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCGTGTGGGTGG CTGAGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCG TGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGTGTGTGGACCGTG CAGCCTGCGTGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGTGTG TGGACCGTGCAGCCTGC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	896052	C C	CCCACACG others(288): Show CCCACACGCAGGCTGCACGGTCCACAGACACGCCTCGGAGGGGTTGTGAG GCTCAGCCACCCACACGCAGGCTGCATGGTCCACAGACACGCCTCGGAGG GGTTGTGAGGCTCAGCCACCCACACGCAGGCTGCACGGTCCACACACACG CCTCGGAGGGGTTGTGAGGCTCAGCCATCCACACGCAGGCTGCACGGTCC ACAGACACGCCTCGGAGGGGTTGTGAGGCTCAGCCACCCACACGCAGGCT GCACGGTCCACACACACGCCTCGGAGGGGTTGTGAGGCTCAGCCAT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0288 a0001c0006t0002g0288	1	216	0.0046	295	c.664 others(312): Show c.664-2981_664-2980insATGGCTGAGCCTCACAACCCCTCCGAGG CGTGTGTGTGGACCGTGCAGCCTGCGTGTGGGTGGCTGAGCCTCACAACC CCTCCGAGGCGTGTCTGTGGACCGTGCAGCCTGCGTGTGGATGGCTGAGC CTCACAACCCCTCCGAGGCGTGTGTGTGGACCGTGCAGCCTGCGTGTGGG TGGCTGAGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACCATGCAGCCT GCGTGTGGGTGGCTGAGCCTCACAACCCCTCCGAGGCGTGTCTGTGGACC GTGCAGCCTGCGTGTGG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LPP_chr3_188149157_188895671	188444314	T T	TAAAAGTA others(288): Show TAAAAGTAAATTTTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTATAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGT GGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02896.hp1 HG03130.hp1 others(1): Show HG02886.hp1 HG02896.hp1 HG03130.hp1 HG03139.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0007 a0002c0003 a0002c0004 a0002c0007	a0002c0003t0007 a0002c0003t0014 a0002c0004t0003 others(1): Show a0002c0003t0007 a0002c0003t0014 a0002c0004t0003 a0002c0007t0022	a0002c0003t0007g0034 a0002c0003t0014g0027 a0002c0004t0003g0065 others(1): Show a0002c0003t0007g0034 a0002c0003t0014g0027 a0002c0004t0003g0065 a0002c0007t0022g0066	4	74	0.0541	295	c.193 others(314): Show c.193+38015_193+38016insTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTATAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAGTAAATTTTG	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(288): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	234	0.0043	295	c.-42 others(306): Show c.-4292_-4291insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCC TGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGC TCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCC ACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531486	C C	GGAGCAGC others(288): Show GGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC ACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGG CAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAG CAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGC TAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGG GGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	329	0.0030	295	c.-45 others(306): Show c.-4586_-4585insCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTC TAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTC TGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCT GTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCT CCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCA CCTGCTGCTCC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4453		chr8	TogoVar

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