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
AAK1_chr2_69452997_69648739	69493158	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0004 a0002c0002t0015g0004	1	70	0.0143	41	c.236 others(60): Show c.2365+2826_2365+2827insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	17/21			chr2	TogoVar
AARS1_chr16_70247298_70294506	70279999	T T	TCAGCCTC others(34): Show TCAGCCTCCCAAGAGGCTGGAACTACAGGTGTGAGCCACCAC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	360	0.0028	41	c.144 others(58): Show c.144+2580_144+2620dupGTGGTGGCTCACACCTGTAGTTCCAGCC TCTTGGGAGGCTG	AARS1	ENSG00000090861.17	transcript	ENST00000261772.13	protein_coding	2/20			chr16	TogoVar
ABCA10_chr17_69143007_69233824	69177973	A A	ATATATAT others(34): Show ATATATATATATATATATGTTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02145.hp2 HG00738.hp2 HG02145.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0136 a0003c0003t0001g0137 a0003c0003t0001g0136 a0003c0003t0001g0137	2	102	0.0196	41	c.277 others(60): Show c.2770-2461_2770-2460insCATATATATATATATATATATAACAT ATATATATATATATA	ABCA10	ENSG00000154263.18	transcript	ENST00000690296.1	protein_coding	22/38			chr17	TogoVar
ABCA5_chr17_69239311_69332133	69263697	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0196 a0004c0005t0003g0196	1	17	0.0588	41	c.331 others(60): Show c.3315+1037_3315+1038insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	ABCA5	ENSG00000154265.16	transcript	ENST00000392676.8	protein_coding	24/38			chr17	TogoVar
ABCB1_chr7_87498017_87605884	87502438	T T	TAATTATA others(34): Show TAATTATATATATAATATATATTATATATATAATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02615.hp1 others(6): Show HG02258.hp1 HG02559.hp2 HG02615.hp1 HG02895.hp1 HG02970.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0021 a0001c0003t0006 a0001c0001t0006 a0001c0001t0021 a0001c0003t0006	a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 others(6): Show a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0061 a0001c0001t0006g0066 a0001c0001t0006g0238 a0001c0001t0006g0263 a0001c0001t0021g0341 a0001c0003t0006g0062 a0001c0003t0006g0081	9	350	0.0257	41	c.18 others(52): Show c.1804_*1805insTATATATAATTATATATATAATATATATTATATA TATAATT	ABCB1	ENSG00000085563.15	transcript	ENST00000622132.5	protein_coding		578		chr7	TogoVar
ABHD12B_chr14_50867053_50909970	50870981	A A	AGAAGGAA others(34): Show AGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	336	0.0030	41	c.-11 others(52): Show c.-1194_-1193insGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1071		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	117	0.0085	41	c.-11 others(52): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAGA GAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0105 a0002c0002t0002g0105	1	117	0.0085	41	c.-11 others(52): Show c.-1192_-1191insAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAA GAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(34): Show GAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	117	0.0085	41	c.-11 others(52): Show c.-1192_-1191insAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAGAAA others(34): Show GAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0009	1	117	0.0085	41	c.-11 others(52): Show c.-1192_-1191insAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50870986	A A	AGAAAGAA others(34): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	372	0.0027	41	c.-11 others(52): Show c.-1189_-1188insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAA GAAAGAG	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1066		chr14	TogoVar
ABHD12_chr20_25295214_25395835	25312888	C C	CGGAGCCC others(34): Show CGGAGCCCCTCCGCCCGGCAGCCGCCCCCGTCTGAGAAGTGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0282 a0001c0003t0002g0282	1	180	0.0056	41	c.619 others(58): Show c.619+2036_619+2037insTCACTTCTCAGACGGGGGCGGCTGCCGG GCGGAGGGGCTCC	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	6/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0150 a0001c0002t0002g0150	1	93	0.0108	41	c.422 others(56): Show c.422+943_422+944insAAAAAAATATATATATATATATATATATAT ATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD6_chr3_58232792_58299734	58290587	T T	TGGCTGCC others(34): Show TGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGGC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01256.hp1 HG00738.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	2	41	0.0488	41	c.838 others(58): Show c.838-2967_838-2966insGGGGGCGGCTGCCGGGCGGAGGGGCTCC TCACTTCTCAGAC	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26818631	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0280 a0001c0001t0003g0280	1	189	0.0053	41	c.285 others(58): Show c.285+4506_285+4507insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	2/10			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	8091379	T T	TTATATTA others(34): Show TTATATTATATATAATTATATGTAATATATAATTATATATTA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA19005.hp2 NA19088.hp1 NA18947.hp2 NA19005.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048	3	316	0.0095	41	c.339 others(58): Show c.339-3136_339-3096dupTAATATATAATTATATATTACATATAAT TATATATAATATA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABR_chr17_998519_1184981	1032536	G G	GGCAGAGG others(34): Show GGCAGAGGACGCCACGGGCAACCACCCGCGTCCGTGCTGGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02145.hp2 HG02572.hp1 others(4): Show HG01884.hp2 HG02145.hp2 HG02572.hp1 HG02809.hp1 HG03209.hp2 HG03453.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0002t0007 a0001c0002t0042 others(4): Show a0001c0001t0008 a0001c0002t0007 a0001c0002t0042 a0001c0002t0059 a0001c0003t0016 a0001c0003t0017 a0001c0003t0021	a0001c0001t0008g0006 a0001c0002t0007g0295 a0001c0002t0042g0015 others(4): Show a0001c0001t0008g0006 a0001c0002t0007g0295 a0001c0002t0042g0015 a0001c0002t0059g0235 a0001c0003t0016g0162 a0001c0003t0017g0119 a0001c0003t0021g0277	7	313	0.0224	41	c.179 others(62): Show c.1791+17473_1791+17513dupGCCCAGCACGGACGCGGGTGGTTG CCCGTGGCGTCCTCTGC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1032546	G G	GCCACGGG others(34): Show GCCACGGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGACA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01891.hp2 others(16): Show HG01109.hp2 HG01167.hp2 HG01891.hp2 HG01952.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03579.hp1 HG03579.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 others(14): Show a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0027 a0001c0001t0028 a0001c0001t0035 a0001c0001t0041 a0001c0001t0043 a0001c0001t0067 a0001c0002t0008 a0001c0002t0011 a0001c0003t0016 a0001c0003t0054 a0001c0003t0079 a0001c0003t0082 a0001c0006t0047	a0001c0001t0003g0111 a0001c0001t0008g0010 a0001c0001t0011g0238 others(16): Show a0001c0001t0003g0111 a0001c0001t0008g0010 a0001c0001t0011g0238 a0001c0001t0014g0096 a0001c0001t0014g0243 a0001c0001t0014g0244 a0001c0001t0027g0038 a0001c0001t0028g0121 a0001c0001t0035g0013 a0001c0001t0041g0014 a0001c0001t0043g0007 a0001c0001t0067g0159 a0001c0002t0008g0036 a0001c0002t0011g0108 a0001c0003t0016g0221 a0001c0003t0054g0232 a0001c0003t0079g0288 a0001c0003t0082g0286 a0001c0006t0047g0228	19	336	0.0565	41	c.179 others(62): Show c.1791+17503_1791+17504insTGTCCTCTGCGCCCAGCACGGACG CGGGTGGTTGCCCGTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1032633	G G	GGGCAACC others(34): Show GGGCAACCACCCGCGTCCGTGCTGGGCGCAGAGGACGCCACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00673.hp2 others(49): Show HG00639.hp1 HG00642.hp1 HG00673.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01257.hp1 HG01258.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02258.hp2 HG02273.hp1 HG02572.hp2 HG02683.hp1 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03471.hp1 HG03516.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp2 NA18944.hp1 NA18950.hp2 NA18955.hp1 NA18962.hp2 NA18980.hp1 NA18982.hp2 NA19010.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA19065.hp2 NA19085.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0032 a0001c0001t0044 a0001c0001t0050 a0001c0001t0058 a0001c0001t0060 a0001c0001t0075 a0001c0001t0078 a0001c0001t0081 a0001c0001t0085 a0001c0002t0001 a0001c0003t0012 a0001c0003t0023 a0001c0003t0025 a0002c0005t0001	a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 others(49): Show a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0100 a0001c0001t0001g0157 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0222 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0149 a0001c0001t0003g0223 a0001c0001t0004g0256 a0001c0001t0004g0313 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0005g0279 a0001c0001t0005g0285 a0001c0001t0005g0319 a0001c0001t0005g0321 a0001c0001t0007g0250 a0001c0001t0007g0326 a0001c0001t0008g0018 a0001c0001t0009g0003 a0001c0001t0009g0033 a0001c0001t0010g0294 a0001c0001t0011g0124 a0001c0001t0012g0092 a0001c0001t0013g0042 a0001c0001t0013g0047 a0001c0001t0013g0048 a0001c0001t0019g0217 a0001c0001t0032g0260 a0001c0001t0044g0020 a0001c0001t0050g0133 a0001c0001t0058g0165 a0001c0001t0060g0148 a0001c0001t0075g0172 a0001c0001t0078g0268 a0001c0001t0081g0303 a0001c0001t0085g0302 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0003t0012g0104 a0001c0003t0023g0005 a0001c0003t0025g0004 a0001c0003t0025g0008 a0002c0005t0001g0187	52	335	0.1552	41	c.179 others(62): Show c.1791+17416_1791+17417insTGTGGCGTCCTCTGCGCCCAGCAC GGACGCGGGTGGTTGCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(34): Show TTTTATATATATATATATTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG02723.hp1 others(2): Show HG00438.hp1 HG00738.hp1 HG02723.hp1 NA19009.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0138 a0001c0001t0003g0147 a0001c0001t0004g0166 others(2): Show a0001c0001t0001g0138 a0001c0001t0003g0147 a0001c0001t0004g0166 a0001c0002t0001g0149 a0001c0003t0001g0126	5	198	0.0253	41	c.38+ others(58): Show c.38+15957_38+15958insTATATATATATATATATATATATAATAT ATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACAN_chr15_88798436_88880353	88828248	A A	AGTGAAAG others(34): Show AGTGAAAGGACAGGGCCAGACCCTAGCCCCAGATTCAAATAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0145 a0018c0016t0001g0145	1	366	0.0027	41	c.-7- others(56): Show c.-7-7950_-7-7910dupTGAAAGGACAGGGCCAGACCCTAGCCCCAG ATTCAAATAGG	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
ACO1_chr9_32379643_32459769	32450961	T T	TATCAATC others(34): Show TATCAATCAGAACTATATTCTCCCATTTTTACAACTCTATCA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01243.hp1 HG02717.hp2 others(4): Show HG01192.hp2 HG01243.hp1 HG02717.hp2 HG02818.hp2 HG03209.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0008 a0001c0010 a0001c0022 others(2): Show a0001c0008 a0001c0010 a0001c0022 a0001c0025 a0001c0026	a0001c0008t0033 a0001c0010t0028 a0001c0010t0071 others(3): Show a0001c0008t0033 a0001c0010t0028 a0001c0010t0071 a0001c0022t0072 a0001c0025t0028 a0001c0026t0028	a0001c0008t0033g0086 a0001c0008t0033g0326 a0001c0010t0028g0066 others(4): Show a0001c0008t0033g0086 a0001c0008t0033g0326 a0001c0010t0028g0066 a0001c0010t0071g0218 a0001c0022t0072g0167 a0001c0025t0028g0070 a0001c0026t0028g0315	7	368	0.0190	41	c.85 others(50): Show c.854_*855insATCAGAACTATATTCTCCCATTTTTACAACTCTATC AATCA	ACO1	ENSG00000122729.19	transcript	ENST00000309951.8	protein_coding	21/21	855	INFO_REALIGN_3_PRIME	chr9	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(34): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA19088.hp2 NA18983.hp2 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0009 a0001c0002t0001g0009	2	96	0.0208	41	c.-43 others(52): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOT7_chr1_6259272_6398767	6366874	G G	GATCTCCT others(34): Show GATCTCCTAGACCAGCCCAGTAGAACTTTCAAAAGTGGAGTC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	223	0.0045	41	c.144 others(60): Show c.144-17049_144-17009dupGACTCCACTTTTGAAAGTTCTACTGG GCTGGTCTAGGAGAT	ACOT7	ENSG00000097021.21	transcript	ENST00000361521.9	protein_coding	1/8			chr1	TogoVar
ACSBG1_chr15_78162468_78239565	78239120	T T	TTAGGAAT others(34): Show TTAGGAATTGTGTAGGACATTAGTGCTGAGTCGTGAACGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0062 a0002c0002t0004g0062	1	348	0.0029	41	c.-46 others(52): Show c.-4620_-4619insCTACGTTCACGACTCAGCACTAATGTCCTACACA ATTCCTA	ACSBG1	ENSG00000103740.10	transcript	ENST00000258873.9	protein_coding		4556		chr15	TogoVar
ACSF3_chr16_89088852_89161233	89105025	C C	CAGAGCCT others(34): Show CAGAGCCTCTCTGAGGGCCCCGTCGCCAGGGTCACCTCCTGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(214): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18986.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0007 a0008 a0009 a0011	a0001c0001 a0001c0005 a0001c0014 others(9): Show a0001c0001 a0001c0005 a0001c0014 a0001c0018 a0003c0008 a0004c0004 a0005c0009 a0005c0017 a0007c0013 a0008c0016 a0009c0019 a0011c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0001t0049 a0001c0001t0058 a0001c0005t0001 a0001c0005t0009 a0001c0005t0010 a0001c0014t0023 a0001c0018t0010 a0003c0008t0019 a0004c0004t0003 a0004c0004t0021 a0004c0004t0024 a0004c0004t0029 a0004c0004t0035 a0004c0004t0036 a0005c0009t0014 a0005c0009t0032 a0005c0009t0037 a0005c0009t0051 a0005c0017t0033 a0007c0013t0001 a0008c0016t0002 a0009c0019t0019 a0011c0015t0009	a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 others(200): Show a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0158 a0001c0001t0001g0194 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0011g0012 a0001c0001t0011g0013 a0001c0001t0011g0014 a0001c0001t0011g0015 a0001c0001t0011g0038 a0001c0001t0011g0039 a0001c0001t0011g0267 a0001c0001t0012g0045 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0012g0048 a0001c0001t0012g0110 a0001c0001t0012g0268 a0001c0001t0014g0105 a0001c0001t0015g0236 a0001c0001t0015g0237 a0001c0001t0016g0011 a0001c0001t0016g0246 a0001c0001t0017g0104 a0001c0001t0017g0107 a0001c0001t0022g0269 a0001c0001t0025g0011 a0001c0001t0026g0213 a0001c0001t0027g0238 a0001c0001t0028g0345 a0001c0001t0030g0262 a0001c0001t0031g0265 a0001c0001t0034g0242 a0001c0001t0049g0296 a0001c0001t0058g0313 a0001c0005t0001g0010 a0001c0005t0001g0040 a0001c0005t0001g0041 a0001c0005t0001g0042 a0001c0005t0001g0043 a0001c0005t0001g0044 a0001c0005t0001g0243 a0001c0005t0001g0244 a0001c0005t0001g0293 a0001c0005t0001g0295 a0001c0005t0009g0196 a0001c0005t0009g0241 a0001c0005t0009g0245 a0001c0005t0009g0289 a0001c0005t0009g0290 a0001c0005t0009g0291 a0001c0005t0009g0301 a0001c0005t0009g0302 a0001c0005t0009g0320 a0001c0005t0009g0321 a0001c0005t0009g0341 a0001c0005t0010g0304 a0001c0005t0010g0305 a0001c0005t0010g0306 a0001c0005t0010g0307 a0001c0005t0010g0314 a0001c0005t0010g0315 a0001c0005t0010g0316 a0001c0005t0010g0319 a0001c0014t0023g0312 a0001c0018t0010g0256 a0003c0008t0019g0240 a0004c0004t0003g0001 a0004c0004t0003g0019 a0004c0004t0003g0212 a0004c0004t0003g0218 a0004c0004t0003g0224 a0004c0004t0003g0225 a0004c0004t0003g0226 a0004c0004t0003g0228 a0004c0004t0003g0229 a0004c0004t0003g0297 a0004c0004t0003g0299 a0004c0004t0003g0300 a0004c0004t0003g0323 a0004c0004t0003g0324 a0004c0004t0003g0325 a0004c0004t0003g0326 a0004c0004t0003g0327 a0004c0004t0003g0328 a0004c0004t0003g0330 a0004c0004t0003g0331 a0004c0004t0003g0332 a0004c0004t0003g0333 a0004c0004t0003g0335 a0004c0004t0003g0336 a0004c0004t0003g0337 a0004c0004t0021g0108 a0004c0004t0024g0329 a0004c0004t0029g0227 a0004c0004t0035g0018 a0004c0004t0036g0334 a0005c0009t0014g0253 a0005c0009t0032g0348 a0005c0009t0037g0037 a0005c0009t0051g0214 a0005c0017t0033g0347 a0007c0013t0001g0275 a0007c0013t0001g0285 a0008c0016t0002g0167 a0009c0019t0019g0239 a0011c0015t0009g0322	217	366	0.5929	41	c.822 others(58): Show c.822+2274_822+2275insTCTGAGGGCCCCGTCGCCAGGGTCACCT CCTGAAGAGCCTC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSF3_chr16_89088852_89161233	89105045	C C	CGTCGCCA others(34): Show CGTCGCCAGGGTCACCTCCTGAAGAGCCTCCCTGAGGGCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01168.hp1 HG02080.hp2 others(1): Show HG01070.hp2 HG01168.hp1 HG02080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0163 a0001c0001t0002g0189 others(1): Show a0001c0001t0002g0004 a0001c0001t0002g0163 a0001c0001t0002g0189 a0001c0001t0002g0190	4	360	0.0111	41	c.822 others(58): Show c.822+2326_822+2327insTGTCGCCAGGGTCACCTCCTGAAGAGCC TCCCTGAGGGCCC	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAAAATAT others(34): Show AAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03710.hp2 HG02109.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0182 a0001c0001t0002g0204 a0001c0001t0001g0182 a0001c0001t0002g0204	2	28	0.0714	41	c.159 others(58): Show c.1593+781_1593+782insAAATATATATATATATATATATATATAT ATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACTL6B_chr7_100638097_100661448	100648997	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	292	0.0034	41	c.468 others(56): Show c.468-175_468-174insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	ACTL6B	ENSG00000077080.10	transcript	ENST00000160382.10	protein_coding	5/13			chr7	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(34): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	256	0.0039	41	c.195 others(58): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236737318	T T	TATATATA others(34): Show TATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0224 a0001c0001t0004g0224	1	341	0.0029	41	c.876 others(56): Show c.876+104_876+105insATATATATATATATATATATATATATATAT ATATATATATA	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	9/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38735737	C C	CGGGGCGG others(34): Show CGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGGCGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0088 a0001c0003t0004g0088	1	308	0.0032	41	c.63 others(52): Show c.6305_*6306insGGGGCGGGGCGGGGGTTCTGGGGGCGGGGCGGGG CGGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4149		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735917	C C	CGGGGCGG others(34): Show CGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGGTTCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0277	1	287	0.0035	41	c.64 others(52): Show c.6485_*6486insGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGG GGTTCTG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4329		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735922	C C	CGGTGGTT others(34): Show CGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCTGGGGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	303	0.0033	41	c.64 others(52): Show c.6490_*6491insGGTGGTTCTGCGGGCGGGGCGGGGCGGGGGTTCT GGGGGCG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4334		chr19	TogoVar
ADAM10_chr15_58583809_58754707	58655695	A A	ATATACTA others(34): Show ATATACTATATATAGTATATATATATACTATATATAGTGTGT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01071.hp1 others(3): Show HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01981.hp2 HG03239.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0025g0125 a0001c0001t0025g0150	6	297	0.0202	41	c.585 others(58): Show c.585+9401_585+9402insACACACTATATATAGTATATATATATAC TATATATAGTATA	ADAM10	ENSG00000137845.15	transcript	ENST00000260408.8	protein_coding	5/15			chr15	TogoVar
ADAM17_chr2_9483486_9560830	9521840	T T	TCTTCCCT others(34): Show TCTTCCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0123 a0001c0001t0008g0123	1	128	0.0078	41	c.844 others(56): Show c.844-525_844-524insGCAGGCAGGCAGGCAGGCAGGCAGGCAGGC AGGCAGGGAAG	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	7/18			chr2	TogoVar
ADAM22_chr7_87929251_88207889	88039464	A A	AAAAAAAA others(34): Show AAAAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0178 a0002c0002t0001g0178	1	77	0.0130	41	c.324 others(60): Show c.324-36161_324-36160insAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATA	ADAM22	ENSG00000008277.15	transcript	ENST00000413139.2	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr7	TogoVar
ADAMTS13_chr9_133417367_133464386	133460471	C C	CGGCGGGG others(34): Show CGGCGGGGGCGGGGGGGCGGCGGGGGGCGGGGGGGCGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0026 a0026	a0026c0059 a0026c0059	a0026c0059t0001 a0026c0059t0001	a0026c0059t0001g0076 a0026c0059t0001g0076	1	161	0.0062	41	c.12 others(52): Show c.1291_*1292insGGCGGGGGCGGGGGGGCGGCGGGGGGCGGGGGGG CGGCGGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1086		chr9	TogoVar
ADAMTS13_chr9_133417367_133464386	133460471	C C	CGGCGGGG others(34): Show CGGCGGGGGCGGGGGGGGCGGCGGGGGCGGGGGGGCGGCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	161	0.0062	41	c.12 others(52): Show c.1291_*1292insGGCGGGGGCGGGGGGGGCGGCGGGGGCGGGGGGG CGGCGGG	ADAMTS13	ENSG00000160323.19	transcript	ENST00000355699.7	protein_coding		1086		chr9	TogoVar
ADAMTS18_chr16_77277128_77440034	77314786	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18950.hp1 NA18969.hp1 HG00609.hp1 NA18950.hp1 NA18969.hp1	a0003 a0009 a0003 a0009	a0003c0002 a0009c0009 a0003c0002 a0009c0009	a0003c0002t0006 a0009c0009t0001 a0003c0002t0006 a0009c0009t0001	a0003c0002t0006g0019 a0003c0002t0006g0072 a0009c0009t0001g0126 a0003c0002t0006g0019 a0003c0002t0006g0072 a0009c0009t0001g0126	3	316	0.0095	41	c.253 others(60): Show c.2532+5062_2532+5063insATATATATATATATATATATATATAT ATATATATATATATA	ADAMTS18	ENSG00000140873.16	transcript	ENST00000282849.10	protein_coding	16/22			chr16	TogoVar
ADAMTS19_chr5_129455298_129743683	129658347	A A	AAGAAAGA others(34): Show AAGAAAGAAAGAAAGAAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	198	0.0051	41	c.230 others(58): Show c.2305-254_2305-253insGAGAGAGAGAGAGAGAGAGAGAGAGAGA AAGAAAGAAAGAA	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS20_chr12_43348866_43557203	43460988	A A	ATATATAT others(34): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	44	0.0227	41	c.161 others(60): Show c.1614+1906_1614+1907insAAAAAAAAAAAAATATATATATATAT ATATATATATATATA	ADAMTS20	ENSG00000173157.18	transcript	ENST00000389420.8	protein_coding	11/38			chr12	TogoVar
ADAMTS2_chr5_179105853_179350461	179208108	A A	AGCCCGCA others(34): Show AGCCCGCACTGCCTGACGCTGGAGTGGGCAGAGCCACCCCTT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA19011.hp2 NA18970.hp2 NA19011.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0011 a0001c0001 a0005c0011	a0001c0001t0001 a0005c0011t0003 a0001c0001t0001 a0005c0011t0003	a0001c0001t0001g0015 a0005c0011t0003g0170 a0001c0001t0001g0015 a0005c0011t0003g0170	2	149	0.0134	41	c.689 others(56): Show c.689-434_689-394dupAAGGGGTGGCTCTGCCCACTCCAGCGTCAG GCAGTGCGGGC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179331408	A A	AGGGGGAA others(34): Show AGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0004 a0004	a0004c0015 a0004c0015	a0004c0015t0003 a0004c0015t0003	a0004c0015t0003g0069 a0004c0015t0003g0069	1	272	0.0037	41	c.534 others(60): Show c.534+12318_534+12358dupCTCCTCTCCCTCCCTTCCCCCTCCTC TCCCTCCCTTCCCCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179331568	A A	AGGGGGAA others(34): Show AGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0108 a0002c0108	a0002c0108t0008 a0002c0108t0008	a0002c0108t0008g0207 a0002c0108t0008g0207	1	270	0.0037	41	c.534 others(60): Show c.534+12158_534+12198dupCTCCTCTCCCTCCCTTCCCCCTCCTC TCCCTCCCTTCCCCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179331608	A A	AGGGGGAA others(34): Show AGGGGGAAGGGAGGGAGAGGAGGGGGAAGGGAGGGAGAGGAG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0003 a0005c0011t0003	a0005c0011t0003g0158 a0005c0011t0003g0158	1	274	0.0036	41	c.534 others(60): Show c.534+12158_534+12159insCTCCTCTCCCTCCCTTCCCCCTCCTC TCCCTCCCTTCCCCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72399855	T T	TACGCATA others(34): Show TACGCATATGTGTGTATATATATACACACACGGTGTGTACGC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp2 HG02602.hp2 others(5): Show HG01106.hp1 HG01243.hp2 HG02602.hp2 HG02630.hp1 HG02965.hp2 HG03453.hp1 HG03471.hp1 NA19030.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0006 a0002c0002 others(2): Show a0001c0001 a0001c0006 a0002c0002 a0003c0008 a0009c0018	a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0001 a0002c0002t0001 a0003c0008t0003 a0009c0018t0006	a0001c0001t0001g0009 a0001c0001t0001g0136 a0001c0001t0004g0138 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0136 a0001c0001t0004g0138 a0001c0006t0001g0030 a0002c0002t0001g0071 a0002c0002t0001g0083 a0003c0008t0003g0133 a0009c0018t0006g0137	8	56	0.1429	41	c.661 others(60): Show c.661+14959_661+14960insGCGTACACACCGTGTGTGTATATATA TACACACATATGCGT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72530056	A A	ATATAATA others(34): Show ATATAATATATTATATTTATATATATATAATATATTATATTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	123	0.0081	41	c.504 others(60): Show c.504+18421_504+18422insAAATATAATATATTATATATATATAA ATATAATATATTATA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAP1_chr7_892900_959680	943620	G G	GGAGGAAG others(34): Show GGAGGAAGGGAGGAGGAGGAAGAGGAGGAAGGGAGAGAGGAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0011 a0001c0003t0004g0011	1	8	0.1250	41	c.83- others(56): Show c.83-8116_83-8115insATCCTCTCTCCCTTCCTCCTCTTCCTCCTC CTCCCTTCCTC	ADAP1	ENSG00000105963.15	transcript	ENST00000265846.10	protein_coding	1/10			chr7	TogoVar
ADARB2_chr10_1172313_1742525	1182370	G G	GCAGCACG others(34): Show GCAGCACGCGTGGGCCAGGTTTTTCCAGGCTCCCCACATCTA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG01243.hp1 HG01433.hp1 others(21): Show HG00408.hp1 HG01243.hp1 HG01433.hp1 HG01433.hp2 HG02040.hp2 HG02630.hp1 HG02683.hp1 HG02735.hp1 HG02970.hp2 HG03041.hp1 HG04184.hp1 NA18522.hp2 NA18945.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18989.hp1 NA18995.hp1 NA18998.hp2 NA19011.hp1 NA19086.hp2 NA20805.hp1 NA21309.hp1	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0011	a0001c0001 a0001c0003 a0001c0007 others(3): Show a0001c0001 a0001c0003 a0001c0007 a0003c0006 a0009c0015 a0011c0011	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 others(14): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0018 a0001c0001t0035 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0003t0009 a0001c0003t0032 a0001c0007t0033 a0003c0006t0003 a0009c0015t0014 a0011c0011t0034	a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 others(21): Show a0001c0001t0003g0085 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0102 a0001c0001t0009g0054 a0001c0001t0009g0055 a0001c0001t0010g0013 a0001c0001t0010g0025 a0001c0001t0011g0017 a0001c0001t0011g0026 a0001c0001t0015g0005 a0001c0001t0018g0027 a0001c0001t0035g0079 a0001c0001t0056g0081 a0001c0001t0057g0103 a0001c0001t0058g0099 a0001c0001t0059g0092 a0001c0003t0009g0046 a0001c0003t0032g0071 a0001c0007t0033g0041 a0003c0006t0003g0090 a0009c0015t0014g0008 a0011c0011t0034g0076	24	106	0.2264	41	c.82 others(50): Show c.822_*823insTAGATGTGGGGAGCCTGGAAAAACCTGGCCCACGCG TGCTG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	10/10	822		chr10	TogoVar

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