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
DDX51_chr12_132131594_132149319	132136223	T T	TCCTCCCA others(100): Show TCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGT GCCCGCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	334	0.0030	107	c.30 others(118): Show c.3048_*3049insTAGCGGGCACCGTGGGCACACTCGGGGAGGTGGG AGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGCACCG GGGCACACTCGGGAGGTGGGAGG	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		370		chr12	TogoVar
DEAF1_chr11_639233_700222	690256	G G	GAGGGGGA others(100): Show GAGGGGGAGGGCAGGAGAGGGGAGGGCAGGGGAGGGCAGGGGAGGGGAGG GGAAGGCAGGGCAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGCAG GGGAGGGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0240 a0001c0002t0001g0240	1	345	0.0029	107	c.387 others(124): Show c.387+1244_387+1245insGCCCTCCCCTGCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTGCCCTGCCTTCCCCTCCCCTCCCCTGCCCTCC CCTGCCCTCCCCTCTCCTGCCCTCCCCCT	DEAF1	ENSG00000177030.19	transcript	ENST00000382409.4	protein_coding	2/11			chr11	TogoVar
DENND1B_chr1_197499748_197780480	197544936	A A	AAGGAAGA others(100): Show AAGGAAGAAGAAGGAGGAAGGAGGAGGAAGGAGAAGGAGGAGGAGAAGGA GGAGGAGAAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGG GAGAAGGG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	280	0.0036	107	c.135 others(124): Show c.1350+985_1350+986insCCCTTCTCCCTCCTCCTTCTCCTCCTCC TTCTCCTCCTCCTTCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTTCTC CTTCCTCCTCCTTCCTCCTTCTTCTTCCT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	18/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197544936	A A	AAGGAAGA others(100): Show AAGGAAGAAGAAGGAGGAAGGAGGAGGAAGGAGGAAGGAGGAGGAGGAGG AGAAGGAGGAGGAGAAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGAAG GAGGAGGG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0014 a0001c0001t0035g0014	1	280	0.0036	107	c.135 others(124): Show c.1350+985_1350+986insCCCTCCTCCTTCTCCTCCTCCTTCTCCT CCTCCTTCTCCTCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTCCTTCCTC CTTCCTCCTCCTTCCTCCTTCTTCTTCCT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	18/22			chr1	TogoVar
DENND6B_chr22_50304030_50332012	50307773	G G	GGAGGGGG others(100): Show GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGAGGGGGAGGGGGAAGA GGGGGAGGGGGGAGAGGGGGAGGGGGGAGAGGGGGAGGGGGAAGAGGGGG AGGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0289 a0002c0002t0001g0289	1	326	0.0031	107	c.43 others(118): Show c.4365_*4366insTTCCCCCTCCCCCTCTTCCCCCTCCCCCTCTCCC CCCTCCCCCTCTCCCCCCTCCCCCTCTTCCCCCTCCCCCTCTTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTC	DENND6B	ENSG00000205593.12	transcript	ENST00000413817.8	protein_coding		1256		chr22	TogoVar
DGAT1_chr8_144309584_144331852	144313723	G G	GCCTCCCC others(100): Show GCCTCCCCGCCCCGCCTCCCCGCCTCCCCGCCCCGCCTCCCCGCGCCTCC CCGCCCCGCCTCCCCGCCTCCCCGCACCGCCTCCCCGCACCGCCTCCCCG CACCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03579.hp2 HG02622.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0028 a0001c0001t0010g0029 a0001c0001t0010g0028 a0001c0001t0010g0029	2	370	0.0054	107	c.28 others(118): Show c.2830_*2831insAGGCGGTGCGGGGAGGCGGTGCGGGGAGGCGGTG CGGGGAGGCGGGGAGGCGGGGCGGGGAGGCGCGGGGAGGCGGGGCGGGGA GGCGGGGAGGCGGGGCGGGGAGG	DGAT1	ENSG00000185000.12	transcript	ENST00000528718.6	protein_coding		860		chr8	TogoVar
DGKB_chr7_14140049_14907751	14211725	T T	TTTTACTC others(100): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCGTGTTTTGTGATATTTACT CTCATGTTTTGTGATATTTACTCTCATGTTTTGTGATATTTACTCTCATG TTTTGTGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0033 a0005c0010t0033	a0005c0010t0033g0007 a0005c0010t0033g0007	1	148	0.0068	107	c.212 others(128): Show c.2123-33575_2123-33574insTCACAAAACATGAGAGTAAATATC ACAAAACATGAGAGTAAATATCACAAAACATGAGAGTAAATATCACAAAA CACGAGAGTAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14211970	A A	ATGTTTTG others(100): Show ATGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTT GTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATATT TACTCTCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	148	0.0068	107	c.212 others(128): Show c.2123-33820_2123-33819insCGAGAGTAAATATCACAAAACATG AGAGTAAAATCACAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA ATCACAAAACATGAGAGTAAATATCACAAAACA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212217	T T	TTTTACTC others(100): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATATTTACTCTCATGTTTTGTGATTTTACTCTCATGTT TTGTGATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	148	0.0068	107	c.212 others(128): Show c.2123-34067_2123-34066insTATCACAAAACATGAGAGTAAAAT CACAAAACATGAGAGTAAATATCACAAAACACGAGAGTAAAATCACAAAA CATGAGAGTAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186355203	C C	CCAACACC others(100): Show CCAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCTACCAC CAACACCAACACCACTATCGTCAACTCCCCACACAACTACCATCACCGCT ACCACCAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0103 a0002c0001t0001g0103	1	234	0.0043	107	c.-24 others(126): Show c.-249+6742_-249+6743insTTGGTGGTAGCGGTGATGGTAGTTGT GTGGGGAGTTGACGATAGTGGTGTTGGTGTTGGTGGTAGCGGTGATGGTA GTTGTGTGGGGAGTTGACGATAGTGGTGTTG	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	1/24			chr3	TogoVar
DHRS12_chr13_51762993_51809163	51774517	C C	CCTACATG others(100): Show CCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCC TACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATTCTCCTA CATGTATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02965.hp2 HG03139.hp2 others(2): Show HG02818.hp1 HG02965.hp2 HG03139.hp2 HG03225.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(2): Show a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134	5	420	0.0119	107	c.364 others(122): Show c.364-484_364-483insAATACATGTAGGAGAATACTGTAGAATACA TGTAGGAGAATACTGTAGAATACATGTAGGAGAATACTGTAGAATACATG TAGGAGAATACTGTAGAATACATGTAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar
DHX58_chr17_42096411_42117714	42106635	T T	TAAAAATA others(100): Show TAAAAATACAAAAAAATAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00423.hp2 others(95): Show HG00140.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01109.hp2 HG01123.hp2 HG01516.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01978.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02080.hp1 HG02083.hp2 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18956.hp2 NA18959.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19059.hp2 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19081.hp2 NA19085.hp1 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0002 a0003 a0004 others(3): Show a0002 a0003 a0004 a0006 a0016 a0018	a0002c0002 a0003c0003 a0004c0004 others(3): Show a0002c0002 a0003c0003 a0004c0004 a0006c0008 a0016c0018 a0018c0019	a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 others(4): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0002 a0006c0008t0001 a0016c0018t0001 a0018c0019t0001	a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0043 others(48): Show a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0130 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0002g0017 a0002c0002t0002g0031 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0072 a0002c0002t0002g0080 a0003c0003t0002g0003 a0003c0003t0002g0008 a0003c0003t0002g0015 a0003c0003t0002g0023 a0003c0003t0002g0030 a0003c0003t0002g0047 a0003c0003t0002g0048 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0056 a0003c0003t0002g0059 a0003c0003t0002g0060 a0003c0003t0002g0063 a0003c0003t0002g0064 a0003c0003t0002g0071 a0003c0003t0002g0078 a0003c0003t0002g0086 a0004c0004t0002g0016 a0004c0004t0002g0029 a0004c0004t0002g0032 a0004c0004t0002g0053 a0004c0004t0002g0054 a0004c0004t0002g0055 a0004c0004t0002g0061 a0004c0004t0002g0070 a0004c0004t0002g0073 a0006c0008t0001g0099 a0016c0018t0001g0141 a0018c0019t0001g0101	98	352	0.2784	107	c.998 others(122): Show c.998-647_998-646insTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTATTTTTTTGTATTTTT	DHX58	ENSG00000108771.13	transcript	ENST00000251642.8	protein_coding	8/13			chr17	TogoVar
DHX58_chr17_42096411_42117714	42106641	T T	TACAAAAA others(100): Show TACAAAAAAATAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	352	0.0028	107	c.998 others(122): Show c.998-653_998-652insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTATTTTTTTGT	DHX58	ENSG00000108771.13	transcript	ENST00000251642.8	protein_coding	8/13			chr17	TogoVar
DLGAP2_chr8_732628_1713476	977717	T T	TGTGGTGA others(100): Show TGTGGTGAGGGGTGTCGGGGATGCAGTGAGGGGCTGGGTTCTGGTCTTTG GTGACGTGGGGAGGGCGTCGGGGATGCAGTGAGGAGCTGGGTTCTGGTCT TTGGTGAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0010 a0002c0004t0018g0010	1	40	0.0250	107	c.73+ others(124): Show c.73+69755_73+69756insTGAGGGGTGTCGGGGATGCAGTGAGGGG CTGGGTTCTGGTCTTTGGTGACGTGGGGAGGGCGTCGGGGATGCAGTGAG GAGCTGGGTTCTGGTCTTTGGTGACGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123911734	G G	GGGGGTCT others(100): Show GGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGG GGTCTGTCCTGGGGGGTCTGTGCTGGGGGGTCTGTCCTGGGCGGGGGGGG TCTGTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0045 a0045	a0045c0095 a0045c0095	a0045c0095t0002 a0045c0095t0002	a0045c0095t0002g0168 a0045c0095t0002g0168	1	170	0.0059	107	c.101 others(128): Show c.10134+1066_10134+1067insTCTGTCCTGGGGGGGGTCTGTCCT GGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGTCTGTGCTGGGGG GTCTGTCCTGGGCGGGGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912324	T T	TGGGGGGG others(100): Show TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGTGGGTCTGTCCTGGGG GAGTCTGTCCTGGGGCGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGGT CTGTCCTG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG02897.hp1 others(1): Show HG02258.hp2 HG02818.hp2 HG02897.hp1 HG02965.hp2	a0001 a0010 a0051 a0001 a0010 a0051	a0001c0001 a0010c0028 a0051c0044 a0001c0001 a0010c0028 a0051c0044	a0001c0001t0001 a0010c0028t0001 a0051c0044t0001 a0001c0001t0001 a0010c0028t0001 a0051c0044t0001	a0001c0001t0001g0025 a0010c0028t0001g0067 a0010c0028t0001g0084 others(1): Show a0001c0001t0001g0025 a0010c0028t0001g0067 a0010c0028t0001g0084 a0051c0044t0001g0050	4	170	0.0235	107	c.101 others(126): Show c.10135-771_10135-770insGGGGGTCTGTCCTGGGGGGTCTGTCC TGGGTGGGTCTGTCCTGGGGGAGTCTGTCCTGGGGCGGTCTGTCCTGGGG GGGGTCTGTCCCGGGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH17_chr17_78418697_78582396	78541054	T T	TGAGCGGG others(100): Show TGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGG GTGAGCGGGGTGGGTGAGTGAGCGGGGTGGGGGGGTGAGCGGGGGTGGGG GGGTGAGC	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0249 a0001c0001t0003g0249	1	252	0.0040	107	c.253 others(126): Show c.2533-1175_2533-1174insGCTCACCCCCCCACCCCCGCTCACCC CCCCACCCCGCTCACTCACCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACCCCGCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAH17_chr17_78418697_78582396	78541054	T T	TGAGCGGG others(100): Show TGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGGG GTGAGCGGGGTGGGTGAGTGAGCGGGGTGGGGGGGTGAGCGGGGTGGGGG GGGTGAGC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0129 a0001c0129	a0001c0129t0001 a0001c0129t0001	a0001c0129t0001g0233 a0001c0129t0001g0233	1	252	0.0040	107	c.253 others(126): Show c.2533-1175_2533-1174insGCTCACCCCCCCCACCCCGCTCACCC CCCCACCCCGCTCACTCACCCACCCCGCTCACCCCCCCACCCCGCTCACC CCCCCACCCCGCTCACCCCCCCACCCCGCTC	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80			chr17	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(100): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGGGATATATATATCATATATATATCATATATATATGGGATATATA TATCATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0297 a0002c0002t0001g0297	1	336	0.0030	107	c.22- others(124): Show c.22-13175_22-13174insATATGATATATATATCCCATATATATAT GATATATATATGATATATATATCCCATATATATATCATATATATATCATA TATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(100): Show GAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA TATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	107	c.29 others(118): Show c.2939_*2940insAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATAT ATATATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DNAJC4_chr11_64225548_64239281	64237123	G G	GAGAGAGA others(100): Show GAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATATATATATA TATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	338	0.0030	107	c.29 others(118): Show c.2939_*2940insAGAGAGAGAGAGAGAAAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATAT ATATATATATATATATATATATA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2843		chr11	TogoVar
DOC2B_chr17_137789_186650	139459	G G	GCCACACA others(100): Show GCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACACGT GCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACACAG GGCCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG01884.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0043 a0001c0002t0019g0044 a0001c0002t0019g0043 a0001c0002t0019g0044	2	339	0.0059	107	c.79 others(118): Show c.7981_*7982insATGTGGCCCTGTGTTCCTGATGTCCCCATTTGTG TGTCCCTCTGTGGGGGACTTTCGCACGTGTGCTCCTTGAGTGGGATCCTC TGTATGTGGGTCTGTGTGTGTGG	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3329		chr17	TogoVar
DOC2B_chr17_137789_186650	139506	C C	CGTGCGAA others(100): Show CGTGCGAAAGTCCCCCACAGAGGGACACACAAATGGGGACATCAGGAACA CAGGGCCACAGCCACACACACAGACCTACATACAGAGGATCCCACTCAAG AAGCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0277 a0001c0001t0007g0277	1	339	0.0030	107	c.79 others(118): Show c.7934_*7935insTTGTGCTTCTTGAGTGGGATCCTCTGTATGTAGG TCTGTGTGTGTGGCTGTGGCCCTGTGTTCCTGATGTCCCCATTTGTGTGT CCCTCTGTGGGGGACTTTCGCAC	DOC2B	ENSG00000272636.5	transcript	ENST00000613549.3	protein_coding		3282		chr17	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(100): Show CCTCCACCACCACCACCACCTCCACCATCACCACCACCACCTCCACCACC ACCAGCATCTTCACCATCACCACCACCTCCACCACCACTATCACCACCAC CACCATCA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0009 a0003c0001t0009	a0003c0001t0009g0167 a0003c0001t0009g0167	1	256	0.0039	107	c.323 others(126): Show c.3234+1214_3234+1215insTCCACCACCACCACCACCTCCACCAT CACCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCT CCACCACCACTATCACCACCACCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPEP1_chr16_89608642_89643433	89634578	C C	CCCTTCCT others(100): Show CCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCCCTTTCCCC TTCCTTCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCC TTCCCTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	250	0.0040	107	c.105 others(124): Show c.105-1328_105-1327insTTCCTTCTCCTTTCCCTTCCTTCCCTTT CCCTTCCTTCCCTTTCCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCCCTTTCCCTTCCTTCCCTTTCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNC1LI1_chr3_32520974_32575858	32537939	T T	TTTATATA others(100): Show TTTATATATATAATATATATATAATTTATATATATAATATATATATAAAT TATATATATATTATATATATAAATTATATATATAATATATATATAAATTA TATATATA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	336	0.0030	107	c.739 others(122): Show c.739-836_739-835insTATATATATAATTTATATATATATTATATA TATAATTTATATATATAATATATATATAATTTATATATATATTATATATA TAAATTATATATATATTATATATATAA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20989056	A A	AGGAGGGG others(100): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGG AGGGGAGG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0116 a0001c0002t0001g0110 a0001c0002t0001g0116	2	312	0.0064	107	c.178 others(124): Show c.178-6649_178-6648insCCTCCCCTCCCCTCCCCTCCCCTCCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCC	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	7/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(100): Show CCCCATCCACACCCCCTACCACCATCACCACCATCCCCATCCACAGCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA20752.hp2 HG01516.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0020 a0001c0002t0002g0118 a0001c0002t0002g0020 a0001c0002t0002g0118	2	250	0.0080	107	c.259 others(126): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGAT GGTGGTGATGGTGGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOB_chr16_2766414_2782280	2781155	G G	GGGTTCCA others(100): Show GGGTTCCACCATGTTGCCCAGGCTGGTCTCAAACAGCTCAAGCAATCCTC CTGCCTCAGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCCCTACACC CAGTCTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	438	0.0023	107	c.-39 others(118): Show c.-3917_-3916insTTAGACTGGGTGTAGGGGCTCATGCCTGTAGTCC CAGCACTTTGGGAGGCTGAGGCAGGAGGATTGCTTGAGCTGTTTGAGACC AGCCTGGGCAACATGGTGGAACC	ELOB	ENSG00000103363.16	transcript	ENST00000409906.9	protein_coding		3876		chr16	TogoVar
ELOVL6_chr4_110040846_110203615	110084188	T T	TATATGTG others(100): Show TATATGTGATATATATGATATATATCACATATATGTGATATATGATATAT ATAACATATATGTGATAATGTTATATATGATATGTATAACATATATGATA TATAAAAC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0235 a0001c0001t0008g0235	1	338	0.0030	107	c.221 others(126): Show c.221+21308_221+21309insGTTTTATATATCATATATGTTATACA TATCATATATAACATTATCACATATATGTTATATATATCATATATCACAT ATATGTGATATATATCATATATATCACATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EPHX2_chr8_27486143_27550564	27501394	T T	TGCTTCTG others(100): Show TGCTTCTGCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCTT CTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGCT TCTTCTTC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0003 a0001c0014t0003	a0001c0014t0003g0346 a0001c0014t0003g0346	1	374	0.0027	107	c.186 others(122): Show c.186+384_186+385insGCTTCTGCTTCTTCTTCTTCTTCTTCTGCT TCTTCTTCTTCTTCTGCTTCTTCTTCTTCTGCTTCTTCTTCTTCTTCTGC TTCTTCTTCTTCTTCTGCTTCTTCTTC	EPHX2	ENSG00000120915.14	transcript	ENST00000521400.6	protein_coding	2/18			chr8	TogoVar
EPS8L1_chr19_55070869_55092923	55076103	G G	GCCTGGAT others(100): Show GCCTGGATTCCTGGGTCTGAGGGAGGGACTGGGGGCCTGGTCTCCTGAGT CTAAGGGAAGAAGGATTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GCTGGGGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00438.hp1 others(183): Show HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18948.hp1 NA18952.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18979.hp2 NA18980.hp2 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0008 a0014	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002 a0004c0004 a0005c0007 a0005c0021 a0008c0012 a0014c0017	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(6): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001 a0004c0004t0001 a0005c0007t0001 a0005c0021t0001 a0008c0012t0001 a0014c0017t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(93): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0006t0001g0010 a0001c0006t0001g0134 a0001c0008t0001g0100 a0002c0002t0001g0097 a0002c0002t0001g0128 a0002c0002t0001g0154 a0002c0002t0001g0156 a0004c0004t0001g0009 a0004c0004t0001g0105 a0004c0004t0001g0106 a0004c0004t0001g0107 a0004c0004t0001g0108 a0004c0004t0001g0109 a0004c0004t0001g0137 a0004c0004t0001g0142 a0004c0004t0001g0143 a0005c0007t0001g0098 a0005c0007t0001g0103 a0005c0021t0001g0101 a0008c0012t0001g0147 a0014c0017t0001g0009	186	340	0.5471	107	c.-38 others(122): Show c.-38+190_-38+191insTTCCTGGGTCTGAGGGAGGGACTGGGGGCC TGGTCTCCTGAGTCTAAGGGAAGAAGGATTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGGCTGGGGTCCTGGA	EPS8L1	ENSG00000131037.15	transcript	ENST00000201647.11	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ERBB4_chr2_211370717_212543802	212249437	T T	TAGAAAAG others(100): Show TAGAAAAGATAGGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAA AAAAAAAAGAAAAAAAAAAAAAAACAAACCTCAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	56	0.0179	107	c.83- others(126): Show c.83-124535_83-124534insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGGTTTGTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTATTATACTCT AAGTTTTAGGGTACATGTGCCTATCTTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018532	T T	TAATATAT others(100): Show TAATATATATTATATAATATATATTATATAATATATATTATATAATATAT ATTATATAATATATATTATATATTATATAATATATATTATATATTATATA ATATATAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	306	0.0033	107	c.534 others(124): Show c.534-2790_534-2789insAATATATATTATATAATATATATTATAT AATATATATTATATAATATATATTATATAATATATATTATATATTATATA ATATATATTATATATTATATAATATATAA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018567	T T	TTATATAA others(100): Show TTATATAATATATATTATATAATATATATTATATATTATATATTATATAA TATATATTATATATTATATAATATATATTATATAATATATAATATATAAT ATATATTA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0017 a0003c0004t0017	a0003c0004t0017g0121 a0003c0004t0017g0121	1	306	0.0033	107	c.534 others(124): Show c.534-2750_534-2749insAATATATATTATATAATATATATTATAT ATTATATATTATATAATATATATTATATATTATATAATATATATTATATA ATATATAATATATAATATATATTATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018567	T T	TTATATAA others(100): Show TTATATAATATATATTATATAATATATATTATATATTATATATTATATAA TATATATTATATATTATATATTATATATTATATAATATATAATATATAAT ATATATTA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18944.hp2 NA18949.hp1 others(6): Show NA18942.hp2 NA18944.hp2 NA18949.hp1 NA18955.hp2 NA18977.hp1 NA18982.hp2 NA18992.hp1 NA19003.hp1 NA19004.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0028 a0001c0001 a0003c0004 a0003c0028	a0001c0001t0001 a0003c0004t0001 a0003c0028t0001 a0001c0001t0001 a0003c0004t0001 a0003c0028t0001	a0001c0001t0001g0123 a0003c0004t0001g0089 a0003c0004t0001g0107 others(6): Show a0001c0001t0001g0123 a0003c0004t0001g0089 a0003c0004t0001g0107 a0003c0004t0001g0108 a0003c0004t0001g0122 a0003c0004t0001g0127 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0028t0001g0143	9	306	0.0294	107	c.534 others(124): Show c.534-2750_534-2749insAATATATATTATATAATATATATTATAT ATTATATATTATATAATATATATTATATATTATATATTATATATTATATA ATATATAATATATAATATATATTATATAT	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ESPNL_chr2_238095340_238138287	238119316	T T	TTGGATGG others(100): Show TTGGATGGAGGAGGTGGATGGAGGAGGGTGAATGGAGGAGGTGGATGAAG GACGTGGATGAAGGAGTTGGATGGAGGAGGGCGAATGGAGGAGGTGAACG GAGGAGGG	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0004 a0001c0016t0004	a0001c0016t0004g0080 a0001c0016t0004g0080	1	408	0.0025	107	c.987 others(124): Show c.987+2354_987+2355insGAGGAGGGCGAATGGAGGAGGTGAACGG AGGAGGGTGGATGGAGGAGGTGGATGGAGGAGGGTGAATGGAGGAGGTGG ATGAAGGACGTGGATGAAGGAGTTGGATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
FAIM_chr3_138603771_138638376	138609533	A A	ACTCTCTC others(100): Show ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCC TCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTC TCTCCTCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	368	0.0027	107	c.-17 others(122): Show c.-17+639_-17+640insTCTCCCTCTCTCCCTCTCTCCCTCTCTCCC TCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609539	T T	TCTCTCTC others(100): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCC TCTCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0342 a0003c0003t0001g0342	1	368	0.0027	107	c.-17 others(122): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609541	T T	TCTCTCTC others(100): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCC TCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	368	0.0027	107	c.-17 others(122): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCCCTCTCCCTCTC TCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAIM_chr3_138603771_138638376	138609543	T T	TCTCTCTC others(100): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCC TCTCTCTC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0001 a0007c0008t0001	a0007c0008t0001g0335 a0007c0008t0001g0335	1	368	0.0027	107	c.-17 others(122): Show c.-17+639_-17+640insTCTCTCTCTCTCTCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCTCTCCCTCCCTCTCCCTCTCTCTCCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTC	FAIM	ENSG00000158234.13	transcript	ENST00000360570.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
FAM163A_chr1_179738291_179821198	179783722	A A	AATATTTT others(100): Show AATATTTTATATATATATATATTATATAATTTATTATATATATATTATAT AATTTATTATATATATATTATATAATTTATTATATATATTATATAATTTA TTATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0188 a0001c0001t0027g0188	1	226	0.0044	107	c.-13 others(128): Show c.-135-24074_-135-24073insATTTTATATATATATATATTATAT AATTTATTATATATATATTATATAATTTATTATATATATATTATATAATT TATTATATATATTATATAATTTATTATATATAT	FAM163A	ENSG00000143340.7	transcript	ENST00000341785.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
FAM174B_chr15_92612448_92660775	92630855	G G	GTTACATA others(100): Show GTTACATATTACATATTATATATATTACATATTACATGTTACATATTACA TATTATATATTATATATTACGTATTACATATTACATATTATATATTATAT ATTACGTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03704.hp1 HG00735.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0010 a0001c0001t0005 a0001c0001t0010	a0001c0001t0005g0325 a0001c0001t0010g0104 a0001c0001t0005g0325 a0001c0001t0010g0104	2	394	0.0051	107	c.345 others(122): Show c.345-511_345-510insTACGTAATATATAATATATAATATGTAATA TGTAATACGTAATATATAATATATAATATGTAATATGTAACATGTAATAT GTAATATATATAATATGTAATATGTAA	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM227B_chr15_49321970_49625818	49371671	A A	AATAAATA others(100): Show AATAAATAAATGAAATAAAATTCACTTATAAATAAATGAAATAAAATTCA CTTATAAATAAATAATGAAATAAAATTCACTTATAAATAAATGAAATAAA ATTCACTT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02738.hp2 HG03017.hp1 HG02698.hp1 HG02738.hp2 HG03017.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0004 a0001c0001 a0005c0004	a0001c0001t0018 a0005c0004t0014 a0001c0001t0018 a0005c0004t0014	a0001c0001t0018g0241 a0005c0004t0014g0288 a0005c0004t0014g0289 a0001c0001t0018g0241 a0005c0004t0014g0288 a0005c0004t0014g0289	3	294	0.0102	107	c.101 others(124): Show c.1013-379_1013-273dupAAGTGAATTTTATTTCATTTATTTATAA GTGAATTTTATTTCATTATTTATTTATAAGTGAATTTTATTTCATTTATT TATAAGTGAATTTTATTTCATTTATTTAT	FAM227B	ENSG00000166262.16	transcript	ENST00000299338.11	protein_coding	11/15			chr15	TogoVar
FAM89A_chr1_231013958_231045254	231044796	C C	CTTTGTCA others(100): Show CTTTGTCAGAGCCTAGAACCACTTGCGGTCTGGAGCTGCCTGATTTATGA ATCACTTTTTGCTCAAATAAACTCTTTAATATTTCAATGTGCCTCAGTTG GTCTTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0139 a0001c0001t0002g0139	1	450	0.0022	107	c.-45 others(118): Show c.-4586_-4585insTAAAAGACCAACTGAGGCACATTGAAATATTAAA GAGTTTATTTGAGCAAAAAGTGATTCATAAATCAGGCAGCTCCAGACCGC AAGTGGTTCTAGGCTCTGACAAA	FAM89A	ENSG00000182118.8	transcript	ENST00000366654.5	protein_coding		4543		chr1	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(100): Show CATATATCATATATCATATATATGATATATATGATAGATCATATATGATC TATCATATATATCATATATCATATATATCATATATATCATATATATCATA TATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 NA19074.hp1 NA19085.hp2 HG00609.hp1 NA19074.hp1 NA19085.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0001 a0003c0002t0001 a0001c0003t0001 a0003c0002t0001	a0001c0003t0001g0174 a0001c0003t0001g0179 a0003c0002t0001g0183 a0001c0003t0001g0174 a0001c0003t0001g0179 a0003c0002t0001g0183	3	236	0.0127	107	c.-23 others(118): Show c.-2329_-2328insATGATATATATGATATATATGATATATATGATAT ATATGATATATGATATATATGATAGATCATATATGATCTATCATATATAT CATATATATGATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1687		chr5	TogoVar
FBN2_chr5_128252909_128543245	128539931	C C	CATATATC others(100): Show CATATATCATATATCATATATATGATCTATATGATAGATCATATATGATC TATCATATATATCATATATCATATATATCATATATATCATATATATCATA TATATCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0173 a0001c0003t0001g0173	1	236	0.0042	107	c.-23 others(118): Show c.-2329_-2328insATGATATATATGATATATATGATATATATGATAT ATATGATATATGATATATATGATAGATCATATATGATCTATCATATAGAT CATATATATGATATATGATATAT	FBN2	ENSG00000138829.14	transcript	ENST00000262464.9	protein_coding		1687		chr5	TogoVar
FBN3_chr19_8060402_8154592	8130604	G G	GGAAAGGA others(100): Show GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA GGAAAGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0013 a0013	a0013c0141 a0013c0141	a0013c0141t0001 a0013c0141t0001	a0013c0141t0001g0052 a0013c0141t0001g0052	1	380	0.0026	107	c.204 others(124): Show c.2044+630_2044+631insTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTC	FBN3	ENSG00000142449.13	transcript	ENST00000600128.6	protein_coding	16/63			chr19	TogoVar
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(100): Show TCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGC CCGCCCCTGCCCCCCAGCCCTGTCCCCCCCACCACCCAGCCTGGGCGCAC ACCCCCCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02738.hp2 NA18978.hp2 others(1): Show HG02602.hp1 HG02738.hp2 NA18978.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0105 a0001c0001t0002g0029 a0001c0001t0002g0082 a0001c0001t0001g0105 a0001c0001t0002g0029 a0001c0001t0002g0082	4	372	0.0108	107	c.633 others(120): Show c.633+94_633+95insGGGGGGGTGTGCGCCCAGGCTGGGTGGTGGGG GGGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAGGTGG GAGCGGATGGTGGCTTTGGGGTGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5			chr16	TogoVar
FBXL16_chr16_687500_710801	696678	T T	TCCCACCC others(100): Show TCCCACCCCAAAGCCACCATCCGCTCCCACCTCCATAGGGTTGCTGCTGC CCGCCCCTGCCCCCCAGCCCTGTCCCCCCCCACCACCCAGCCTGGGCGCA CACCCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	372	0.0027	107	c.633 others(120): Show c.633+94_633+95insGGGGGGTGTGCGCCCAGGCTGGGTGGTGGGGG GGGACAGGGCTGGGGGGCAGGGGCGGGCAGCAGCAACCCTATGGAGGTGG GAGCGGATGGTGGCTTTGGGGTGGG	FBXL16	ENSG00000127585.13	transcript	ENST00000397621.6	protein_coding	2/5			chr16	TogoVar

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