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
DTD1_chr20_18583054_18771644	18675842	A A	ATATTTAC others(291): Show ATATTTACACATATATATGTAAATATACCTATGTGTATGTTTACACATAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATGTGTAAATATACCTATGTGTATGTTTACACATAT ATGTGTAAATATACCTGTGTGTATGTTTACACATATATATGTGTAAATAT ACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp1 HG03098.hp2 HG02622.hp1 HG02630.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150	3	5	0.6000	298	c.477 others(317): Show c.477+47644_477+47645insATGTTTACACATATATATGTGTAAAT ATACCTATGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGT ATGTTTACACATATATATGTGTAAATATACCTATGTGTATGTTTACACAT ATATGTGTAAATATACCTATGTGTATGTTTACACATATATGTGTAAATAT ACCTGTGTGTATGTTTACACATATATATGTGTAAATATACCTATGTGTAT GTTTACACATATATATGTGTAAATATACCTATGTGTGTATTTACACATAT ATATGTAAATATACCTATGTGT	DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr20	TogoVar
DVL1_chr1_1330278_1354418	1350946	G G	GGAGGGGG others(291): Show GGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC GCAGGAGCGACGGGGGGAGTGAGGGGGCCTGGACCGGGCAGGAGCGACGG GGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAG GAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCT GGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCA GGAGCGACGGGGGGAGTGAGGAGGGGGCCGCAGGAGCGACGGGGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp1 NA18948.hp2 NA18943.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	315	0.0063	298	c.-18 others(309): Show c.-1882_-1881insACTCCCCCCGTCGCTCCTGCGGCCCCCTCCTCAC TCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTC GCTCCTGCCCGGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCC GGTCCAGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCCGTCCAGGCC CCCTCCTCACTCCCCCCGTCGCTCCTGCCCGGTCCAGGCCCCCTCACTCC CCCCGTCGCTCCTGCGGCCCCCTCCTCACTCCCCCCGTCGCTCCTGCCCG GTCCAGGCCCCCTC	DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding		1529		chr1	TogoVar
EIPR1_chr2_3183970_3382818	3313756	G G	GTAGGAGT others(291): Show GTAGGAGTCAAACTGTCTTTGTTCCCATGAGAAACTCAAGGCCCAAGCTG GGGCCTGGGCAGAAATGAAGGAAAAAACAGGATTCGGATCAGGGAGGGCG AGGAAGGCAGAGGCAAGAGGGCTCATTATGTGCATCTGACCCTCACCCCC CGGTCTTCATTAGCAGCGGGTCACAGCAGCAGCTGGGGCTGTCCCCGAGC TGCGGGCCTGGGTCAATGGCCCTGAGCCGCTGGGACCCGGGGAGGGTGGC ACTAGCTGACCCAGCCCCCCTCTCACGCTAGCTCCCCGGAGAGCACCAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	248	0.0040	298	c.259 others(317): Show c.259+24260_259+24261insGTGGTGCTCTCCGGGGAGCTAGCGTG AGAGGGGGGCTGGGTCAGCTAGTGCCACCCTCCCCGGGTCCCAGCGGCTC AGGGCCATTGACCCAGGCCCGCAGCTCGGGGACAGCCCCAGCTGCTGCTG TGACCCGCTGCTAATGAAGACCGGGGGGTGAGGGTCAGATGCACATAATG AGCCCTCTTGCCTCTGCCTTCCTCGCCCTCCCTGATCCGAATCCTGTTTT TTCCTTCATTTCTGCCCAGGCCCCAGCTTGGGCCTTGAGTTTCTCATGGG AACAAAGACAGTTTGACTCCTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ENG_chr9_127810016_127859658	127834835	T T	TAGGTTGG others(291): Show TAGGTTGGTTATTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	318	0.0031	298	c.220 others(315): Show c.220-5009_220-5008insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAATAAAAAAAAAAAAAAAA AAAAAAAAAATAACCAACCT	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENG_chr9_127810016_127859658	127834835	T T	TAGGTTGG others(291): Show TAGGTTGGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02683.hp1 HG02683.hp2 others(6): Show HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02886.hp2 HG03209.hp2 HG03540.hp2 HG03704.hp2 NA20752.hp2 NA20805.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0026 a0001c0001 a0009c0026	a0001c0001t0001 a0001c0001t0008 a0009c0026t0001 a0001c0001t0001 a0001c0001t0008 a0009c0026t0001	a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0215 others(6): Show a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0215 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0274 a0001c0001t0008g0138 a0009c0026t0001g0262	9	326	0.0276	298	c.220 others(315): Show c.220-5009_220-5008insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAATAACCAACCT	ENG	ENSG00000106991.14	transcript	ENST00000373203.9	protein_coding	2/14			chr9	TogoVar
ENY2_chr8_109329347_109350954	109337068	T T	TCATTTAA others(291): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	376	0.0027	298	c.83+ others(311): Show c.83+877_83+878insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGA TCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCC TCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCT AATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGAT GGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG CTGCATTTAAAGTTTT	ENY2	ENSG00000120533.13	transcript	ENST00000521688.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
EXD3_chr9_137301896_137428162	137355563	G G	GGAGGATG others(291): Show GGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAG GGAGGAAGGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAA GGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAA GGAGAAAGGAGGAAGGAGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAT GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGATGGAGGAA GGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0012 a0008c0008t0001g0012	1	63	0.0159	298	c.757 others(313): Show c.757+704_757+705insTTCCTCCTTCCTCCATCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCCTT CCTCCTTCCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCATCCTCCTTCCTCCTTCCTCCATCCTCCCTTCCTCCTT CCTCCTTTCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCATCCTC	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FANCD2_chr3_10021437_10106932	10069478	C C	CCTCTCCC others(291): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCGTCT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0013 a0012c0014t0013	a0012c0014t0013g0150 a0012c0014t0013g0150	1	240	0.0042	298	c.249 others(317): Show c.2494+2162_2494+2163insTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCGTCTC	FANCD2	ENSG00000144554.13	transcript	ENST00000675286.1	protein_coding	26/43		INFO_REALIGN_3_PRIME	chr3	TogoVar
FBH1_chr10_5885243_5942593	5916555	G G	GTCTGAGG others(291): Show GTCTGAGGATGGGGAAACGGGAAATGTTAGGGATCTGAGGATGGGGAAAT GGGAAGTGTTAGGGATCTGAGGATGGGGGATCAGGGGAAGTGTTAGGGAT CTGAGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGGGGAAAC AGGGGAAGTGTTAGGGGTCTGAGGATGGGGAAACGGGAAATGTTAGGGAT CTGAGGATGGGGAAATGGGAAGTGTTAGGGATCTGAGGATGGGGGATCAG GGGAAGTGTTAGGGATCTGAGGATGGGGGAACAGGGGAAGTGTTAGGGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp2 HG01069.hp1 others(17): Show HG00639.hp1 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02818.hp1 HG03209.hp2 HG03471.hp2 HG03540.hp2 HG03834.hp2 HG04199.hp1 HG06807.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0021 a0001c0001 a0001c0006 a0001c0021	a0001c0001t0001 a0001c0006t0001 a0001c0021t0001 a0001c0001t0001 a0001c0006t0001 a0001c0021t0001	a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0102 others(13): Show a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0006t0001g0025 a0001c0006t0001g0098 a0001c0021t0001g0105	20	301	0.0664	298	c.178 others(315): Show c.1788+116_1788+117insGGGAAATGTTAGGGATCTGAGGATGGGG AAATGGGAAGTGTTAGGGATCTGAGGATGGGGGATCAGGGGAAGTGTTAG GGATCTGAGGATGGGGGAACAGGGGAAGTGTTAGGGATCTGAGGATGGGG AAACAGGGGAAGTGTTAGGGGTCTGAGGATGGGGAAACGGGAAATGTTAG GGATCTGAGGATGGGGAAATGGGAAGTGTTAGGGATCTGAGGATGGGGGA TCAGGGGAAGTGTTAGGGATCTGAGGATGGGGGAACAGGGGAAGTGTTAG GGATCTGAGGATGGGGAAAC	FBH1	ENSG00000134452.20	transcript	ENST00000362091.9	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
FHAD1_chr1_15242223_15403328	15314635	G G	GTGGGTGT others(291): Show GTGGGTGTGTGGGAGGGTGTGTGAGGGTGTGGATGTGTGTGGGTATGTGG GGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGTGAGAGGGTGTG TGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATGGGTGTGAGTAT GGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATGTGTGGGTGAGG GTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGTGTGTGTGGGTG TGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTGTGGGGGTGTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00558.hp2 others(111): Show HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00738.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01361.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp2 NA18943.hp2 NA18950.hp1 NA18960.hp2 NA18968.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18981.hp2 NA18983.hp2 NA18992.hp1 NA19003.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19077.hp2 NA19080.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(43): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0019 a0021 a0022 a0023 a0024 a0026 a0027 a0031 a0032 a0033 a0034 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0048 a0049 a0050 a0051 a0053 a0054 a0056 a0057 a0058 a0061 a0063 a0066 a0068	a0001c0001 a0001c0002 a0001c0008 others(70): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0032 a0001c0090 a0001c0102 a0002c0003 a0002c0018 a0002c0080 a0002c0081 a0003c0006 a0003c0009 a0003c0055 a0003c0085 a0003c0098 a0004c0004 a0004c0038 a0004c0087 a0004c0096 a0005c0005 a0005c0016 a0005c0030 a0006c0014 a0007c0012 a0007c0033 a0007c0082 a0008c0011 a0008c0028 a0010c0025 a0011c0029 a0012c0041 a0012c0051 a0012c0079 a0013c0021 a0013c0060 a0014c0040 a0014c0107 a0015c0017 a0018c0023 a0019c0022 a0021c0027 a0022c0031 a0023c0054 a0023c0094 a0024c0046 a0026c0117 a0027c0127 a0027c0130 a0031c0063 a0032c0114 a0033c0115 a0034c0073 a0036c0084 a0037c0069 a0038c0061 a0039c0078 a0041c0105 a0042c0104 a0043c0129 a0048c0120 a0049c0093 a0050c0068 a0051c0128 a0053c0109 a0054c0077 a0056c0075 a0057c0131 a0058c0126 a0061c0083 a0063c0106 a0066c0076 a0068c0064	a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 others(89): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0008t0025 a0001c0010t0001 a0001c0010t0009 a0001c0032t0014 a0001c0090t0048 a0001c0102t0012 a0002c0003t0005 a0002c0003t0006 a0002c0003t0014 a0002c0003t0053 a0002c0018t0007 a0002c0018t0018 a0002c0018t0021 a0002c0080t0019 a0002c0081t0058 a0003c0006t0008 a0003c0009t0001 a0003c0009t0009 a0003c0009t0028 a0003c0055t0012 a0003c0085t0055 a0003c0098t0029 a0004c0004t0004 a0004c0004t0005 a0004c0038t0014 a0004c0087t0046 a0004c0096t0002 a0005c0005t0010 a0005c0005t0015 a0005c0016t0032 a0005c0016t0033 a0005c0030t0010 a0006c0014t0005 a0007c0012t0016 a0007c0012t0026 a0007c0033t0007 a0007c0033t0014 a0007c0082t0016 a0008c0011t0017 a0008c0028t0020 a0010c0025t0003 a0011c0029t0017 a0011c0029t0036 a0012c0041t0003 a0012c0051t0011 a0012c0079t0027 a0013c0021t0002 a0013c0021t0008 a0013c0021t0013 a0013c0060t0001 a0014c0040t0005 a0014c0040t0021 a0014c0107t0003 a0015c0017t0007 a0018c0023t0008 a0019c0022t0004 a0021c0027t0024 a0022c0031t0003 a0023c0054t0009 a0023c0094t0001 a0024c0046t0009 a0026c0117t0016 a0027c0127t0019 a0027c0130t0007 a0031c0063t0030 a0032c0114t0056 a0033c0115t0054 a0034c0073t0011 a0036c0084t0047 a0037c0069t0023 a0038c0061t0042 a0039c0078t0007 a0041c0105t0004 a0042c0104t0045 a0043c0129t0007 a0048c0120t0034 a0049c0093t0018 a0050c0068t0011 a0051c0128t0007 a0053c0109t0007 a0054c0077t0037 a0056c0075t0010 a0057c0131t0005 a0058c0126t0019 a0061c0083t0002 a0063c0106t0004 a0066c0076t0038 a0068c0064t0041	a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0056 others(111): Show a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0012g0127 a0001c0001t0012g0128 a0001c0001t0013g0028 a0001c0001t0013g0049 a0001c0002t0001g0075 a0001c0008t0025g0112 a0001c0008t0025g0113 a0001c0010t0001g0097 a0001c0010t0001g0098 a0001c0010t0009g0207 a0001c0032t0014g0152 a0001c0090t0048g0157 a0001c0102t0012g0146 a0002c0003t0005g0176 a0002c0003t0006g0033 a0002c0003t0014g0151 a0002c0003t0053g0177 a0002c0018t0007g0140 a0002c0018t0018g0153 a0002c0018t0021g0247 a0002c0080t0019g0181 a0002c0081t0058g0251 a0003c0006t0008g0171 a0003c0009t0001g0036 a0003c0009t0009g0178 a0003c0009t0028g0191 a0003c0055t0012g0213 a0003c0085t0055g0139 a0003c0098t0029g0237 a0004c0004t0004g0168 a0004c0004t0005g0173 a0004c0004t0005g0174 a0004c0038t0014g0155 a0004c0087t0046g0121 a0004c0096t0002g0061 a0005c0005t0010g0279 a0005c0005t0010g0282 a0005c0005t0010g0284 a0005c0005t0015g0280 a0005c0005t0015g0285 a0005c0016t0032g0260 a0005c0016t0033g0271 a0005c0030t0010g0265 a0005c0030t0010g0266 a0006c0014t0005g0255 a0007c0012t0016g0187 a0007c0012t0026g0245 a0007c0012t0026g0246 a0007c0033t0007g0138 a0007c0033t0014g0032 a0007c0082t0016g0180 a0008c0011t0017g0294 a0008c0028t0020g0159 a0010c0025t0003g0208 a0011c0029t0017g0281 a0011c0029t0036g0269 a0012c0041t0003g0124 a0012c0041t0003g0125 a0012c0051t0011g0275 a0012c0079t0027g0248 a0013c0021t0002g0084 a0013c0021t0008g0136 a0013c0021t0013g0058 a0013c0060t0001g0166 a0014c0040t0005g0137 a0014c0040t0021g0249 a0014c0107t0003g0145 a0015c0017t0007g0011 a0015c0017t0007g0147 a0015c0017t0007g0148 a0018c0023t0008g0123 a0018c0023t0008g0130 a0018c0023t0008g0131 a0019c0022t0004g0022 a0019c0022t0004g0071 a0021c0027t0024g0258 a0021c0027t0024g0288 a0022c0031t0003g0252 a0022c0031t0003g0253 a0023c0054t0009g0206 a0023c0094t0001g0082 a0024c0046t0009g0193 a0024c0046t0009g0222 a0026c0117t0016g0234 a0027c0127t0019g0184 a0027c0130t0007g0238 a0031c0063t0030g0195 a0032c0114t0056g0200 a0033c0115t0054g0203 a0034c0073t0011g0278 a0036c0084t0047g0154 a0037c0069t0023g0293 a0038c0061t0042g0007 a0039c0078t0007g0232 a0041c0105t0004g0062 a0042c0104t0045g0008 a0043c0129t0007g0235 a0048c0120t0034g0259 a0049c0093t0018g0020 a0050c0068t0011g0292 a0051c0128t0007g0233 a0053c0109t0007g0197 a0054c0077t0037g0263 a0056c0075t0010g0283 a0057c0131t0005g0219 a0058c0126t0019g0185 a0061c0083t0002g0048 a0063c0106t0004g0043 a0066c0076t0038g0289 a0068c0064t0041g0006	114	278	0.4101	298	c.117 others(317): Show c.1170+1460_1170+1461insAGGGTGTGTGAGGGTGTGGATGTGTG TGGGTATGTGGGGGGTGTGGGAGTGTGGAGATGTATGAGTGTGGGTGTGT GAGAGGGTGTGTGTGGGGGTGTATGGGTGTGTAAGCATAGGGGGTGTATG GGTGTGAGTATGGGGGGAGTATGTATGGGTGTGTGGGGTGTGTGTGGATG TGTGGGTGAGGGTGTTGGGAAGGGTGTGTGGGGTGTGGATATGTGTAGGT GTGTGTGGGTGTGTGTGGATATGGGTAGGTGTGTGTGTGAGTGTGGTGTG TGGGGGTGTATGGGTGTGTGGG	FHAD1	ENSG00000142621.21	transcript	ENST00000688493.1	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
FIG4_chr6_109686296_109830426	109781773	C C	CAGATTTT others(291): Show CAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCTGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03041.hp2 HG03225.hp1 HG02886.hp2 HG03041.hp2 HG03225.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0019 a0002c0002 a0008c0019	a0002c0002t0002 a0008c0019t0006 a0002c0002t0002 a0008c0019t0006	a0002c0002t0002g0086 a0002c0002t0002g0087 a0008c0019t0006g0020 a0002c0002t0002g0086 a0002c0002t0002g0087 a0008c0019t0006g0020	3	262	0.0115	298	c.189 others(317): Show c.1890-3191_1890-3190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCTGC CACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC TTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTC GGCCTCCCAAAGTGCTAGATTT	FIG4	ENSG00000112367.12	transcript	ENST00000230124.8	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXK2_chr17_82514732_82609602	82609182	T T	TAAGAACA others(291): Show TAAGAACAAAGCCAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGATAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAA TTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	306	0.0033	298	c.76 others(309): Show c.7683_*7684insAAGAACAAAGCCAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGATAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding		4581		chr17	TogoVar
FOXP1_chr3_70949708_71588728	71396980	A A	ATACACAT others(291): Show ATACACATATATATGTGTGTGTATATATATATACACATATATATATGTAT ATATATATACATATATATGTGTATATATATATACATATATATATGTGTAT ATATATATATACACACATATATATATGTGTATATATATATACACATATAT ATGTGTATATATATACATATATATGTGTATATATATACACATATATATAT GTGTATATATATACATATATATGTGTATATACATATACATATATGTGTAT ATACATATACATATATATATGTGTATATACATATACATATATATATATG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0096 a0001c0001t0006g0096	1	67	0.0149	298	c.-16 others(319): Show c.-167-37737_-167-37736insCATATATATATATGTATATGTATA TACACATATATATATGTATATGTATATACACATATATGTATATGTATATA CACATATATATGTATATATATACACATATATATATGTGTATATATATACA CATATATATGTATATATATACACATATATATGTGTATATATATATACACA TATATATATGTGTGTATATATATATATACACATATATATATGTATATATA TATACACATATATATGTATATATATATACATATATATATGTGTATATATA TATACACACACATATATATGTGTA	FOXP1	ENSG00000114861.24	transcript	ENST00000649528.3	protein_coding	3/20			chr3	TogoVar
GAK_chr4_844277_937316	926877	C C	CCTCCCCG others(291): Show CCTCCCCGCTCACCTGCGCTCCGCACTGCCCCCGCAACCCCCCCCCCACC CGCTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCGC TCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCC GCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCGCACCCCTCCCCG CTCACCTGCGCTCCGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTC CGCACTGCCCCGCACCCCTCCCCGCTCACCTGCAGTCCGCACTGCCCCG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0057 a0001c0004t0001g0057	1	332	0.0030	298	c.145 others(315): Show c.145+5165_145+5166insCGGGGCAGTGCGGACTGCAGGTGAGCGG GGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGGAGGGGTGCGGG GCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTG CAGGTGAGCGGGGAGGGGTGCGGGGCAGTGCGGACTGCAGGTGAGCGGGG AGGGGTGCGGGGCAGTGCGGAGCGCAGGTGAGCGGGGAGGGGTGCGGGGC AGTGCGGAGCGCAGGTGAGCGGGTGGGGGGGGGGTTGCGGGGGCAGTGCG GAGCGCAGGTGAGCGGGGAG	GAK	ENSG00000178950.18	transcript	ENST00000314167.9	protein_coding	1/27			chr4	TogoVar
GALNT13_chr2_153866922_154458979	154387299	T T	TTCATTTT others(291): Show TTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0112 a0001c0001t0041g0112	1	212	0.0047	298	c.115 others(317): Show c.1157-8688_1157-8687insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAAAGTGTCAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT9_chr12_132191372_132334589	132244423	T T	TGGGGCTG others(291): Show TGGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGA TGGGGCTGGATGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATG GGGGCTGGACGGGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGAT GGGGCTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGG GGCTGGACGGGGGGGCGTGGTGATGGGGCTGGATGGGGGGGCGTGGTGAT GGGGCTGGACGGGGGCGTGGTGATGGGGCTGGACGGGGGCGTGGTGATG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02109.hp2 HG02615.hp1 others(7): Show HG02055.hp1 HG02109.hp2 HG02615.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG03225.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0016 others(3): Show a0001c0001 a0001c0006 a0001c0016 a0001c0017 a0001c0019 a0001c0026	a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0016t0001 a0001c0017t0001 a0001c0019t0003 a0001c0026t0014	a0001c0001t0001g0072 a0001c0001t0001g0149 a0001c0006t0001g0078 others(7): Show a0001c0001t0001g0072 a0001c0001t0001g0149 a0001c0006t0001g0078 a0001c0006t0001g0142 a0001c0016t0001g0054 a0001c0016t0001g0147 a0001c0017t0001g0049 a0001c0017t0001g0148 a0001c0019t0003g0077 a0001c0026t0014g0052	10	155	0.0645	298	c.107 others(317): Show c.1077+3486_1077+3487insCATCACCACGCCCCCGTCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCCCATCCAGCCCCA TCACCACGCCCCCCCGTCCAGCCCCATCACCACGCCCCCATCCAGCCCCA TCACCACGCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATC ACCACGCCCCCCCGTCCAGCCCCCATCACCACGCCCCCATCCAGCCCCAT CACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCAGCCCCATCA CCACGCCCCCCCGTCCAGCCCC	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GGTLC1_chr20_23980053_23993779	23980387	T T	TACACACA others(291): Show TACACACACACAAACACGATCACACACATTCACACACACCCACACCCCAC ACTCACACTCACACACTCACACACACCCACAAACACCCACACATACACTC ACACACATTTACACACACCCACACACTCACACACACTCATAGTCACACAC ACCCTCACACAGCAAAACACAATCACACACATTCACACCCACCCACGCCC CCCACACTCACACTCACATACCCACACACACCCACACACTCATACACACA CAAACAAACACAATCACACACATTTACACACACCCACACTCACACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp2 HG00738.hp1 HG01167.hp2 HG01169.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0055 a0002c0005t0001g0146 a0002c0005t0001g0055 a0002c0005t0001g0146	3	206	0.0146	298	c.48 others(309): Show c.4828_*4829insGTATGTGTGAGTGTGGGTGTGTGTAAATGTGTGT GATTGTGTTTGTTTGTGTGTGTATGAGTGTGTGGGTGTGTGTGGGTATGT GAGTGTGAGTGTGGGGGGCGTGGGTGGGTGTGAATGTGTGTGATTGTGTT TTGCTGTGTGAGGGTGTGTGTGACTATGAGTGTGTGTGAGTGTGTGGGTG TGTGTAAATGTGTGTGAGTGTATGTGTGGGTGTTTGTGGGTGTGTGTGAG TGTGTGAGTGTGAGTGTGGGGTGTGGGTGTGTGTGAATGTGTGTGATCGT GTTTGTGTGTGTGT	GGTLC1	ENSG00000149435.12	transcript	ENST00000335694.4	protein_coding		4665		chr20	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(291): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0060 a0002c0002t0017g0060	1	14	0.0714	298	c.229 others(317): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(291): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGGAAGGAAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0011 a0002c0002t0035g0011	1	14	0.0714	298	c.229 others(317): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTCCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(291): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGG GAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGA GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02572.hp2 HG02886.hp2 others(2): Show HG01106.hp1 HG02572.hp2 HG02886.hp2 HG03516.hp1 HG03834.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0007 a0001c0001t0021 a0001c0001t0047 others(2): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0047 a0001c0001t0070 a0002c0002t0005	a0001c0001t0007g0058 a0001c0001t0021g0025 a0001c0001t0047g0026 others(2): Show a0001c0001t0007g0058 a0001c0001t0021g0025 a0001c0001t0047g0026 a0001c0001t0070g0155 a0002c0002t0005g0157	5	18	0.2778	298	c.229 others(317): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCT CCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGAA others(291): Show GGGAGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGGAAGGGAGGGAGG GAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGA GGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAA GGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG02572.hp1 others(1): Show HG01109.hp2 HG01891.hp1 HG02572.hp1 HG02965.hp2	a0002 a0003 a0009 others(1): Show a0002 a0003 a0009 a0016	a0002c0002 a0003c0004 a0009c0009 others(1): Show a0002c0002 a0003c0004 a0009c0009 a0016c0018	a0002c0002t0004 a0003c0004t0006 a0009c0009t0036 others(1): Show a0002c0002t0004 a0003c0004t0006 a0009c0009t0036 a0016c0018t0019	a0002c0002t0004g0024 a0003c0004t0006g0018 a0009c0009t0036g0005 others(1): Show a0002c0002t0004g0024 a0003c0004t0006g0018 a0009c0009t0036g0005 a0016c0018t0019g0048	4	17	0.2353	298	c.229 others(317): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCT CCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGA others(291): Show GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGG AAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGGAAGGAAAGGAGGGA GGGAGGGGAAGGAAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGGAAGGGA GGGAGGGAGGGAAGGGAGGGAGGGAGGGGAAGGAAGGAAGGAAGGGAGGG AGGGGAAGGAAGGGAGGGAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0018 a0018	a0018c0030 a0018c0030	a0018c0030t0066 a0018c0030t0066	a0018c0030t0066g0180 a0018c0030t0066g0180	1	14	0.0714	298	c.229 others(317): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTCCCTCCCTTCCTTCCCCTCCCTCCCTTCCTTCCTTCCTTCCCCTC CCTCCCTCCCTTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCC CTCCCTCCCTTCCTTCCCCTCCCTCCCTCCTTTCCTTCCCCTCCCTCCCT TCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCT CCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GLIS3_chr9_3819127_4305068	3876693	G G	GGGAGGGG others(291): Show GGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGG GAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGA GGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGG GGAAGGGAGGGAGGGAGGGGAAGGGAGGGAGGGAGGGAGGGAAGGGAGGG AGGGAGGGGAAGGAAGGAAGGGAGGGAGGGGAAGGAAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0020 a0020	a0020c0016 a0020c0016	a0020c0016t0015 a0020c0016t0015	a0020c0016t0015g0094 a0020c0016t0015g0094	1	14	0.0714	298	c.229 others(317): Show c.2297+2733_2297+2734insTCCCTCCCTCCCTTCCTTCCCCTCCC TCCCTTCCTTCCTTCCCCTCCCTCCCTCCCTTCCCTCCCTCCCTCCCTCC CTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTTCCCCTCCCTCC CTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCT CCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTC CCCTCCCTCCCTCCCTCCCTTCCCCTCCCTCCCTCCCTCCCTTCCCCTCC CTCCCTCCCTCCCTTCCCCTCC	GLIS3	ENSG00000107249.24	transcript	ENST00000381971.8	protein_coding	8/10			chr9	TogoVar
GNG13_chr16_793041_805734	795610	C C	CCCCCGGC others(291): Show CCCCCGGCCCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCC GGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGG CCCCGTGCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCG TGCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCTC CCCGCCCCGCCCCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	414	0.0024	298	c.31 others(309): Show c.3108_*3109insACAGCCACACGGGCAGCGCGGGGGGGGGGGAGGG GAGGGGCGGGGCGGGGAGGCACGGGGCCGGGGGCAGCCACACGGGCAGTG TGGTTGGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTG GGGGGGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGA GAAGGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGGTTGGGGGGGG GGGCACGGGGCCGGGGGCAGCCACACGGGCAGTGTGTTTGGGGGGGAGGG GCACGGGGCCGGGG	GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding		2430		chr16	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATAAATA others(291): Show AATAAATATAAATATATATATATATTTATATTTATTTATAAATAAATATA AATATATATATATATATTTATATTTATTTATAAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATA TATAAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0202 a0001c0002t0002g0202	1	140	0.0071	298	c.-97 others(315): Show c.-97-2068_-97-2067insATAAATATAAATATATATATATATTTAT ATTTATTTATAAATAAATATAAATATATATATATATATTTATATTTATTT ATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATATATAAATATATAAATATATATTT ATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATTTATAT ATAAATATATAAATCTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GPR173_chrX_53043789_53085615	53074457	A A	AATATATA others(291): Show AATATATATAAATATATATTTATATTTATTTATAAATAAATATATATAAA TATATATAAATATATATTTATATTTATTTGTAAATAAATATATATAAATA TATATAAATATATATTTATATTTATTTATAAATAAATATATATAAATATA TATTTATATTTATTTATAAATAAATATATATAAATATATATTTATATTTA TTTATATATAAATATATAAATATATATTTATAGTTATTTATATATAAATA TATAAATATATATTTATAGTTATTTATATATAAATATATAAATCTATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03017.hp1 HG03704.hp2 HG02683.hp2 HG03017.hp1 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0035 a0001c0003t0011g0036 a0001c0003t0011g0037 a0001c0003t0011g0035 a0001c0003t0011g0036 a0001c0003t0011g0037	3	142	0.0211	298	c.-97 others(315): Show c.-97-2068_-97-2067insATATATATAAATATATATTTATATTTAT TTATAAATAAATATATATAAATATATATAAATATATATTTATATTTATTT GTAAATAAATATATATAAATATATATAAATATATATTTATATTTATTTAT AAATAAATATATATAAATATATATTTATATTTATTTATAAATAAATATAT ATAAATATATATTTATATTTATTTATATATAAATATATAAATATATATTT ATAGTTATTTATATATAAATATATAAATATATATTTATAGTTATTTATAT ATAAATATATAAATCTATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1			chrX	TogoVar
GRHL3_chr1_24314357_24360318	24345043	C C	CCTCCACA others(291): Show CCTCCACACCTGTGTCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCC CCCTCCATACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTGCC CCCTCCACACCTGTGCACCTCCACACCTGTGCCCCTCCACACCTGTGCCC CCTCTACACCTGTGTCCCTCCACACCTGTGCCCCCTTTACACCTGTGCCC CTCCACACCTGTGCCCCCTCTACACCTGTGCCCCCTCCACACCTGTGCCC CCTCTACACCTGTGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0309 a0001c0001t0001g0309	1	2	0.5000	298	c.145 others(315): Show c.1454+113_1454+114insTCCACACCTGTGTCCCCTCCACACCTGT GCCCCCTCCACACCTGTGCCCCCTCCATACCTGTGCCCCCTCTACACCTG TGCCCCTCCACACCTGTGCCCCCTCCACACCTGTGCACCTCCACACCTGT GCCCCTCCACACCTGTGCCCCCTCTACACCTGTGTCCCTCCACACCTGTG CCCCCTTTACACCTGTGCCCCTCCACACCTGTGCCCCCTCTACACCTGTG CCCCCTCCACACCTGTGCCCCCTCTACACCTGTGCCCCTCCACACCTGTG CCCCCTCCACACCTGTGCAC	GRHL3	ENSG00000158055.17	transcript	ENST00000361548.9	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TTAATATA others(291): Show TTAATATATTAATAATATAGTATATTAATATATAGTAACTATATTAATAT ATAGTAACTATATTAATATAGTTAGTATATATTAATATATAGTAACTATA TTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATATA GTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02647.hp1 HG02572.hp2 HG02647.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0017 a0005c0005t0005g0241 a0005c0005t0005g0017 a0005c0005t0005g0241	2	135	0.0148	298	c.-28 others(309): Show c.-2852_-2851insTAATATATTAATAATATAGTATATTAATATATAG TAACTATATTAATATATAGTAACTATATTAATATAGTTAGTATATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAA TATAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTA TATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATAT AGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GRTP1_chr13_113319163_113369130	113346562	A A	AGGAGGAC others(291): Show AGGAGGACCTCTGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCCGA GAGCAGACCCAGGAGGACCTCTGTGGCTGACAGTGGACCCGGGAGGACCT CTGTGGCTGAGAGCAGACCCGGGAGGACCTCTGTGGCCGAGAGCAGACCT GGGAGGACCTCTGTGGCCGAGAGCGGACCCAGGAGCACCTCTGTGGCTGA GCGGATCCGGGAGGACCTCTGTGGCAAAGAGCAGACCCAGGAGGACCTCT GTGCCTGACAGTGGACCCGGGAGGACCTCTGTGGCTGAGAACAGACCCG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	189	0.0053	298	c.466 others(315): Show c.466-1604_466-1603insCGGGTCTGTTCTCAGCCACAGAGGTCCT CCCGGGTCCACTGTCAGGCACAGAGGTCCTCCTGGGTCTGCTCTTTGCCA CAGAGGTCCTCCCGGATCCGCTCAGCCACAGAGGTGCTCCTGGGTCCGCT CTCGGCCACAGAGGTCCTCCCAGGTCTGCTCTCGGCCACAGAGGTCCTCC CGGGTCTGCTCTCAGCCACAGAGGTCCTCCCGGGTCCACTGTCAGCCACA GAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCCTGGGTCTGCT CTCGGCCACAGAGGTCCTCC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GSE1_chr16_85608322_85681200	85653214	T T	TCCTCCTC others(291): Show TCCTCCTCCCCCCTCCTCCTCCCCCCTCCCACTCCTCCCCCCTCCTCCCC CCTCCTCCCCCCTCCTCCCCCCCCTCCCCCCCCTCCTCCCCCCTCCTCCT CCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCCCTCCTCCCCCCCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCCCCCTCCT CCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCCCCCTCC TCCTCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0115 a0001c0003t0001g0115	1	175	0.0057	298	c.427 others(315): Show c.427-1062_427-1061insTCCTCCCCCCTCCTCCTCCCCCCTCCCA CTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCCTCCCCCC CCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCCCTCCTCCTCCCCC CCCTCCTCCCCCCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCCCCCT CCTCCTCCTCCCCCCTCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCT CCCCCCTCCTCCCCCCTCCTCCTCCTCCTCCCCCCTCCTCCTCCTCCTCC CCCCTCCTCCTCCTCCTCCC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
HACL1_chr3_15555699_15606569	15597657	T T	TGGATCAT others(291): Show TGGATCATAATCTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	323	0.0031	298	c.187 others(315): Show c.187-1234_187-1233insGCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTG GCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCAC TCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAACAAAGATTATGATCC	HACL1	ENSG00000131373.15	transcript	ENST00000321169.10	protein_coding	2/16			chr3	TogoVar
HBQ1_chr16_175459_186179	186042	G G	GACACGGG others(291): Show GACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACA CGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGAGGGAACAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	318	0.0031	298	c.49 others(309): Show c.4934_*4935insACACGGGGGAGGAACAGCGACACGGGGGAGGAAC AGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGG AGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGAGGGAACAGC	HBQ1	ENSG00000086506.3	transcript	ENST00000199708.3	protein_coding		4864		chr16	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(291): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0042 a0001c0001t0012g0042	1	331	0.0030	298	c.234 others(313): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTG CAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCAC CGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTG TTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGC CTCCCGCTGTTCTTTCTT	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
HECW1_chr7_43107647_43571001	43342586	T T	TTCTAGAT others(291): Show TTCTAGATAACTCTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCGAGAGTGCTGTGGCGCGATCTCCGCTCACTGCAAGCTCCGC CTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0092 a0001c0004t0001g0092	1	179	0.0056	298	c.461 others(317): Show c.461-18286_461-18285insTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCGAGAGTGCTGTGGCGCGATCTCCGCTCACTGC AAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCTCTAGATAACTCTT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HNRNPA0_chr5_137740651_137759363	137752174	A A	ATATAACC others(291): Show ATATAACCCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT CTGAGAATATATTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGC ACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACT GCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCC CTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0000 a0001c0001t0035g0000	1	366	0.0027	298	c.97 others(307): Show c.974_*975insGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCG GGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACA CATTAGTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTA ACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAATTCAAAATACAAGGAAACTT AATATATTCTCAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATAAGGGTTATA	HNRNPA0	ENSG00000177733.7	transcript	ENST00000314940.7	protein_coding	1/1	974		chr5	TogoVar
HRH3_chr20_62209960_62225278	62213169	G G	GGGGAGGG others(291): Show GGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGAAGG AGAGTGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGGAGGGAGAGCA GGGATGGGGGGAAGGGAGAGCAGGGATCGGGGGGAAGGAGAGTGGGGATG GGGGGTAAGGAGAGCGGGGATGGGTGGGGGAAGGAGAGCGGGGATGGGGG AGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGATGGGGGGTAAGGAGA GCGGGGATGGGGGAGGGAGAGCGGGGATGGGGGAAGGGAGAGCAGGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	305	0.0033	298	c.28 others(309): Show c.2836_*2837insATCCCTGCTCTCCCTTCCCCCATCCCCGCTCTCC CTCCCCCATCCCCGCTCTCCTTACCCCCCATCCCTGCTCTCCCTTCCCCC ATCCCCGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCCACCCATCCCC GCTCTCCTTACCCCCCATCCCCACTCTCCTTCCCCCCGATCCCTGCTCTC CCTTCCCCCCATCCCTGCTCTCCCTCCCCCATCCCCGCTCTCCTTCCCCC ACCCATCCCCACTCTCCTTCCCCCCATCCCTGCTCTCCCTTCCCCCATCC CCGCTCTCCCTCCC	HRH3	ENSG00000101180.17	transcript	ENST00000340177.10	protein_coding		1790		chr20	TogoVar
HS3ST2_chr16_22809162_22921338	22818825	C C	CATTCCTT others(291): Show CATTCCTTCCTTCCGTCCTTCCTCCTTCCTTCCTTCCCTCCTTCCTTCCT CCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCC TTCCCTCCTTCCTTCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCTCCC TTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTCCCTCCCTCCCTTCCTT CCTTCCTTCCTTCATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	348	0.0029	298	c.485 others(315): Show c.485+3730_485+3731insATTCCTTCCTTCCGTCCTTCCTCCTTCC TTCCTTCCCTCCTTCCTTCCTCCTCCCTCCCTTCCTTCCTTCCTTCCTTC ATTCCTTCCTCCCTTCCTTCCTTCCCTCCTTCCTTCTTCCTTCCTTCCCT CCTTCCTTCCTCCCTCCTCCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCATTCCTTCCTCCCTTC CTTCCTTCCCTCCTTCCTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCT CCTTCCTTCCTTCCCTCCTT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1			chr16	TogoVar
HS3ST3A1_chr17_13489032_13606929	13533514	T T	TGAAGTTA others(291): Show TGAAGTTATTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01928.hp2 others(24): Show HG00741.hp1 HG01884.hp1 HG01928.hp2 HG02055.hp1 HG02080.hp2 HG02258.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp1 HG02922.hp2 HG03041.hp2 HG03130.hp1 HG03239.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp2 NA18965.hp2 NA18973.hp2 NA19004.hp1 NA19030.hp2 NA19079.hp2 NA19085.hp2 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0001c0002 a0001c0006 others(4): Show a0001c0001 a0001c0002 a0001c0006 a0001c0011 a0002c0003 a0002c0004 a0007c0015	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0034 a0001c0001t0036 a0001c0001t0060 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0002t0001 a0001c0002t0004 a0001c0002t0050 a0001c0006t0063 a0001c0011t0064 a0002c0003t0007 a0002c0004t0015 a0007c0015t0001	a0001c0001t0002g0101 a0001c0001t0003g0107 a0001c0001t0006g0182 others(24): Show a0001c0001t0002g0101 a0001c0001t0003g0107 a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0198 a0001c0001t0017g0306 a0001c0001t0019g0010 a0001c0001t0021g0321 a0001c0001t0034g0318 a0001c0001t0034g0324 a0001c0001t0036g0335 a0001c0001t0060g0242 a0001c0001t0072g0303 a0001c0001t0073g0322 a0001c0001t0076g0300 a0001c0002t0001g0100 a0001c0002t0001g0132 a0001c0002t0001g0151 a0001c0002t0001g0199 a0001c0002t0004g0038 a0001c0002t0050g0085 a0001c0006t0063g0273 a0001c0011t0064g0211 a0002c0003t0007g0282 a0002c0003t0007g0292 a0002c0004t0015g0286 a0007c0015t0001g0272	27	282	0.0957	298	c.600 others(317): Show c.600-36697_600-36696insGCCTGTAATCCCAGCACTTTGGGAGG CCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCGGCTAAA ACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTA GTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT GGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTG CACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAATTAATAACTTC	HS3ST3A1	ENSG00000153976.3	transcript	ENST00000284110.2	protein_coding	1/1			chr17	TogoVar
IFFO2_chr1_18899280_18961676	18926013	A A	ATGGATGG others(291): Show ATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGATGGATGGAT GGATTGGTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG GATTGGTTGGTTGGTTGGATGGATGGATGGATGGATGGATGGATGGATTG GTTGGATGGATGGATGGATGGATGGATGGATGGATGGATGGTTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATTGGTTGGATGGATGGAT GGATGGATGGATGGATGGATGGATGGATGGATGGATTGGATGGATTGGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0136 a0001c0001t0004g0136	1	355	0.0028	298	c.666 others(315): Show c.666-4893_666-4892insACCAATCCATCCAATCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCCATCCAACCAATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCAACCATCCATCCATCCATCCAT CCATCCATCCATCCATCCAACCAATCCATCCATCCATCCATCCATCCATC CATCCAACCAACCAACCAATCCATCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCAACCAATCCATCCATCCATCCATCCAACCATCCATCCA TCCATCCATCCATCCATCCA	IFFO2	ENSG00000169991.11	transcript	ENST00000455833.7	protein_coding	1/8			chr1	TogoVar
IFNAR1_chr21_33319970_33364864	33322496	A A	AATATATA others(291): Show AATATATATATGGAATATATACATGGAATATATACATGGAATATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATGGAATATATATA CGGAATATGTATATGGAATATATATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	306	0.0033	298	c.-25 others(309): Show c.-2560_-2559insATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAATATATACATGGAACATATATATATGGAACAT ATACGGAATATATATATGGAATATATATACGGAATATATATATATATGGA ATATATATACGGAATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATGGAATATATATACGGAATATATA TATGGAATATATATACGGAATATGTATATGGAATATATATATATGGAATA TATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2473		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33322496	A A	AATATATA others(291): Show AATATATATATGGAATATATACATGGAATATATACATGGAATATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATACGGAATATATATATATGGAATATATATACG GAATATATATATGGAATATATATACGGAATATATATATGGAATATATATA TGGAATATGTATATGGAATATATATATATGGAATATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG03491.hp2 HG02698.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0179 a0001c0001t0003g0173 a0001c0001t0003g0179	2	307	0.0065	298	c.-25 others(309): Show c.-2560_-2559insATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAATATATACATGGAACATATATATATGGAACAT ATACGGAATATATATATGGAATATATATACGGAATATATATATATATGGA ATATATATACGGAATATATATATGGAATATATATACGGAATATATATATA TGGAATATATATACGGAATATATATATGGAATATATATACGGAATATATA TATGGAATATATATATGGAATATGTATATGGAATATATATATATGGAATA TATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2473		chr21	TogoVar
JAKMIP1_chr4_6021199_6205549	6067579	G G	GCACTCAA others(291): Show GCACTCAAGCTCTTCCGCACACACAGGTCACCCCCCTGAGCTCCAGGTTC ACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCACGTT CACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCA CTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCACGTTCACT CAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCCAGGTT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG01516.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0065 a0001c0001t0001g0066	2	180	0.0111	298	c.130 others(317): Show c.1303-2572_1303-2571insAACCTGGAGCTCAGGGGGTGACCTGT GTGTGTGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGAC CTGCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCT GCGTGTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGT GTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTG TGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTG TGTGTGCGGAAGAGCTTGAGTG	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067594	T T	TGCACACA others(291): Show TGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTG CACACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTT CTGCACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCT GCACACACAGGTCACCCCCCTGAGCTCCACGTTCACTCAAGCTCTTCCGC ACACACAGGTCACCCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCTGCAC ACACACACACAGGTCACCCCCTGAGCTCCAGGTTCACTCAAGCTCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03130.hp1 HG02257.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0206 a0001c0003t0001g0220 a0001c0001t0001g0206 a0001c0003t0001g0220	2	207	0.0097	298	c.130 others(317): Show c.1303-2587_1303-2586insGGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGA GCTCAGGGGGGTGACCTGTGTGTGCGGAAGAGCTTGAGTGAACGTGGAGC TCAGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTC AGGGGGGTGACCTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAG GGGGTGACCTGTGTGTGTGTGTGCAGAAGAGCTTGAGTGAACCTGGAGCT CAGGGGGGTGACCTGTGTGTGC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
JAKMIP1_chr4_6021199_6205549	6067677	G G	GGTTCACT others(291): Show GGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAGG TTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTCC AGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCAG GTTCACTCAAGCTCTTCTGCACACACACACACAGGTCACCCCCTGAGCTC CAGGTTCACTCAAGCTCTTCTGCACACACAGGTCACCCCCCTGAGCTCCA CGTTCACTCAAGCTCTTCTGCACACGCAGGTCACCCCCCTGAGCTCCAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp1 HG00558.hp2 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0145 a0001c0001t0001g0014 a0001c0001t0001g0145	2	159	0.0126	298	c.130 others(317): Show c.1303-2670_1303-2669insGTGGAGCTCAGGGGGGTGACCTGCGT GTGCAGAAGAGCTTGAGTGAACGTGGAGCTCAGGGGGGTGACCTGTGTGT GCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGTG TGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGTG TGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGTGACCTGTGTGTGT GTGTGCAGAAGAGCTTGAGTGAACCTGGAGCTCAGGGGGGTGACCTGTGT GTGCAGAAGAGCTTGAGTGAAC	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	8/20			chr4	TogoVar
KIAA0930_chr22_45187244_45245894	45228711	A A	ACACTCAC others(291): Show ACACTCACCTGAGAGATCCCTCTCCACCCCCGCCACCACCACTCACCCGA AAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCC ACCCCCGCCATCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCA CCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAA AGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCA CCCCCCAACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0365 a0001c0001t0009g0365	1	379	0.0026	298	c.64+ others(315): Show c.64+11928_64+11929insGTGGTTGGGGGGTGGAGAGGGATCTTTC GGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG TTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAG AGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGG GTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGT TGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGCGGGGGTGGAG AGGGATCTCTCAGGTGAGTG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KNDC1_chr10_133155219_133231412	133223016	C C	CGTGTGTG others(291): Show CGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTG TGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTG TGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCC CATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGTGAGAGCCCATCCA GCCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02451.hp1 HG02615.hp2 others(8): Show HG02257.hp2 HG02451.hp1 HG02615.hp2 HG02723.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03516.hp1 HG03540.hp1 NA20129.hp2	a0001 a0007 a0020 a0001 a0007 a0020	a0001c0001 a0001c0004 a0007c0009 others(1): Show a0001c0001 a0001c0004 a0007c0009 a0020c0044	a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0019 a0001c0004t0004 a0007c0009t0001 a0020c0044t0001	a0001c0001t0001g0008 a0001c0001t0001g0244 a0001c0001t0001g0312 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0244 a0001c0001t0001g0312 a0001c0001t0004g0007 a0001c0001t0004g0140 a0001c0001t0004g0157 a0001c0001t0019g0007 a0001c0004t0004g0147 a0007c0009t0001g0132 a0020c0044t0001g0315	11	317	0.0347	298	c.501 others(317): Show c.5019-1544_5019-1543insTGAGAGCCCATCCAGGCATGCTCTTC CCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTG TGTGTGTGTGTGAGAGCCCATCCAGCCATGCTCTTCCCAGTGTGTGTGTG TGTGAGAGCCCATCCAGGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAG CCCATCCAGGCATGCTCTTCCCAGTGTGTGTGTGTGTGAGAGCCCATCCA GGCATGCTCTTCCCGGCGTGTGTGTGTGTGAGAGCCCATCCAGGCATGCT CTTCCCGGCGTGTGTGTGTGTG	KNDC1	ENSG00000171798.19	transcript	ENST00000304613.8	protein_coding	29/29		INFO_REALIGN_3_PRIME	chr10	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(291): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA19001.hp1 NA18956.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0360 a0001c0001t0003g0331 a0001c0001t0003g0360	2	355	0.0056	298	c.997 others(315): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCT ACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCG TGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCG GCCTCCCAAAGAACTCTTTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(291): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATCCATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATCCATATATATATATCCATATATATATCCATATATATATATCCA TATATATGGATATATATATATCCATATATATCTATCCATATATATATCCA TATATATCTATCCATATATATATCCATATATATATCCATATATATATCC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0259	1	218	0.0046	298	c.126 others(315): Show c.126-1698_126-1697insGGATATATATATGGATATATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATATCCATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LARS1_chr5_146108034_146187650	146174471	T T	TATATATC others(291): Show TATATATCCATATATATATATATCCATATATATATATCCATATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATCCATATA TATATATCCATATATATATCCATATATATATCCATATATATATATCCATA TATATATCCATATATATATATCCATATATATATCCATATATATATATCCA TATATATGGATATATATATATCCATATATATCTATCCATATATATATCCA TATATATCTATCCATATATATATCCATATATCTATCCATATATATATCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00741.hp1 HG01361.hp2 others(3): Show HG00140.hp2 HG00741.hp1 HG01361.hp2 HG02273.hp1 HG03669.hp2 HG04204.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0012 a0002c0002 a0005c0012	a0002c0002t0002 a0005c0012t0002 a0002c0002t0002 a0005c0012t0002	a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0245 others(3): Show a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0005c0012t0002g0218	6	223	0.0269	298	c.126 others(315): Show c.126-1698_126-1697insGGATATATATATGGATAGATATATGGAT ATATATATGGATAGATATATATGGATATATATATGGATAGATATATATGG ATATATATATATCCATATATATGGATATATATATATGGATATATATATGG ATATATATATATGGATATATATATGGATATATATATATGGATATATATAT GGATATATATATGGATATATATATATGGATATATATATGGATATATATAT ATGGATATATATATATGGATATATATATATATGGATATATATATATGGAT ATATATATATATGGATATAT	LARS1	ENSG00000133706.20	transcript	ENST00000394434.7	protein_coding	2/31			chr5	TogoVar
LKAAEAR1_chr20_64078376_64089398	64088656	A A	AGGGCAGG others(291): Show AGGGCAGGATCTGTGCAGAGTGCCAGGATCTGTGCAGAGTGGCCAGGATC TATGCAGGGAGGGCAGGGTCTGTGCAGAGTGGCCAGGGTCTTTGCAGGGT GGCCAGGATCTGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATC TGTGCAGGGAGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGT GGCCAGGATCTGTGCAGAGTGGCCAGGTCTGTGCAGGGAGGCCAGGATCT GTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	64	0.0156	298	c.-44 others(309): Show c.-4438_-4437insACTCTGCACAGATCCTGCCCTCCCTGCACAGATC CTGGCCACTCTGCACAGATCCTGGCCTCCCTGCACAGACCTGGCCACTCT GCACAGATCCTGGCCACTCTGCACAGATCCTGGCCACTCTGCACAGATCC TGGCCTCCCTGCACAGATCCTGGCCACTCTGCACAGATCCTGGCCTCCCT GCACAGATCCTGGCCACCCTGCAAAGACCCTGGCCACTCTGCACAGACCC TGCCCTCCCTGCATAGATCCTGGCCACTCTGCACAGATCCTGGCACTCTG CACAGATCCTGCCC	LKAAEAR1	ENSG00000171695.11	transcript	ENST00000302096.5	protein_coding		4259		chr20	TogoVar

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