Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
ABCC5_chr3_183914934_184022884	184012047	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	374	0.0027	17	c.129 others(34): Show c.129+2216_129+2217insGTGTGTGTGTGTGTGTG	ABCC5	ENSG00000114770.17	transcript	ENST00000334444.11	protein_coding	2/29			chr3	TogoVar
ABCC6_chr16_16144565_16228494	16172110	G G	GGTGGGAT others(10): Show GGTGGGATGCATAAATGA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	356	0.0028	17	c.278 others(36): Show c.2787+1173_2787+1174insTCATTTATGCATCCCAC	ABCC6	ENSG00000091262.17	transcript	ENST00000205557.12	protein_coding	21/30			chr16	TogoVar
ABCC8_chr11_17387885_17481845	17467042	C C	CACACACA others(10): Show CACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0127 a0001c0007t0001g0127	1	21	0.0476	17	c.412 others(34): Show c.412+3058_412+3059insTGTGTGTGTGTGTGTGT	ABCC8	ENSG00000006071.16	transcript	ENST00000389817.8	protein_coding	3/38			chr11	TogoVar
ABCC9_chr12_21792389_21946426	21915514	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	38	0.0263	17	c.816 others(32): Show c.816+153_816+154insAAAAATATATATATATA	ABCC9	ENSG00000069431.14	transcript	ENST00000261200.9	protein_coding	7/39			chr12	TogoVar
ABCF3_chr3_184181199_184199005	184191739	G G	GTTCCTTT others(10): Show GTTCCTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA21309.hp1 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0022 a0001c0001t0004g0022	2	322	0.0062	17	c.156 others(34): Show c.1569+486_1569+487insCCTTTTTTTTTTTTTTT	ABCF3	ENSG00000161204.12	transcript	ENST00000429586.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABCG8_chr2_43833971_43887988	43887143	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 NA18969.hp2 HG02647.hp1 NA18969.hp2	a0002 a0014 a0002 a0014	a0002c0004 a0014c0025 a0002c0004 a0014c0025	a0002c0004t0038 a0014c0025t0074 a0002c0004t0038 a0014c0025t0074	a0002c0004t0038g0020 a0014c0025t0074g0156 a0002c0004t0038g0020 a0014c0025t0074g0156	2	119	0.0168	17	c.92 others(28): Show c.9230_*9231insAAAAAAAAAAAAAAAAA	ABCG8	ENSG00000143921.9	transcript	ENST00000272286.4	protein_coding		4156		chr2	TogoVar
ABHD12B_chr14_50867053_50909970	50870983	G G	GAAAAAGA others(10): Show GAAAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0029	1	117	0.0085	17	c.-11 others(28): Show c.-1192_-1191insAAAAAGAAAGAAAGAAA	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding		1069		chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50882373	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0176 a0001c0006t0001g0176	1	7	0.1429	17	c.486 others(32): Show c.486+752_486+768dupTTTTTTTTTTTTTTTTT	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12B_chr14_50867053_50909970	50882382	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	374	0.0027	17	c.486 others(32): Show c.486+768_486+769insTTTTGTTTTTTTTTTTT	ABHD12B	ENSG00000131969.15	transcript	ENST00000337334.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp2 HG03209.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0010 a0001c0003t0010 a0001c0002t0010 a0001c0003t0010	a0001c0002t0010g0298 a0001c0003t0010g0299 a0001c0002t0010g0298 a0001c0003t0010g0299	2	94	0.0213	17	c.422 others(32): Show c.422+943_422+944insATATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0251 a0001c0003t0002g0251	1	93	0.0108	17	c.422 others(32): Show c.422+943_422+944insAAATATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(10): Show ATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0295 a0001c0003t0002g0295	1	93	0.0108	17	c.422 others(32): Show c.422+943_422+944insAAAAATATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD12_chr20_25295214_25395835	25322381	A A	ATATATAT others(10): Show ATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03540.hp1 HG00733.hp2 HG03540.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0005c0008 a0001c0002 a0005c0008	a0001c0002t0002 a0005c0008t0002 a0001c0002t0002 a0005c0008t0002	a0001c0002t0002g0171 a0005c0008t0002g0242 a0001c0002t0002g0171 a0005c0008t0002g0242	2	94	0.0213	17	c.422 others(32): Show c.422+943_422+944insAAAAAAATATATATATA	ABHD12	ENSG00000100997.20	transcript	ENST00000339157.10	protein_coding	3/12			chr20	TogoVar
ABHD17C_chr15_80690310_80760621	80705333	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG02451.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0299 a0001c0001t0002g0062 a0001c0001t0001g0299 a0001c0001t0002g0062	2	29	0.0690	17	c.590 others(34): Show c.590+9314_590+9315insGTGTGTGTGTGTGTGTG	ABHD17C	ENSG00000136379.12	transcript	ENST00000258884.5	protein_coding	1/2			chr15	TogoVar
ABHD3_chr18_21645901_21709774	21667234	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	96	0.0104	17	c.556 others(34): Show c.556-3021_556-3005dupAAAAAAAAAAAAAAAAA	ABHD3	ENSG00000158201.10	transcript	ENST00000289119.7	protein_coding	4/8			chr18	TogoVar
ABHD6_chr3_58232792_58299734	58271766	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0165 a0001c0001t0005g0165	1	53	0.0189	17	c.523 others(32): Show c.523+710_523+726dupTTTTTTTTTTTTTTTTT	ABHD6	ENSG00000163686.15	transcript	ENST00000478253.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
ABI1_chr10_26741596_26865958	26773215	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02109.hp1 HG02109.hp2 others(6): Show HG01123.hp1 HG02109.hp1 HG02109.hp2 HG02559.hp2 HG02572.hp2 HG02895.hp2 HG02965.hp2 HG03471.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0166 a0001c0001t0003g0278 a0001c0001t0003g0279 others(6): Show a0001c0001t0003g0166 a0001c0001t0003g0278 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0285 a0001c0001t0008g0018 a0001c0001t0008g0019	9	127	0.0709	17	c.463 others(34): Show c.463-2127_463-2126insAAAAAAAAAAAAAAAAA	ABI1	ENSG00000136754.18	transcript	ENST00000376140.4	protein_coding	3/10			chr10	TogoVar
ABI2_chr2_203323394_203437169	203370227	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0103 a0001c0001t0005g0103	1	307	0.0033	17	c.285 others(34): Show c.285+3183_285+3184insCTCTCTCTCTCTCTCTC	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	2/11			chr2	TogoVar
ABI2_chr2_203323394_203437169	203385139	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01257.hp1 HG01258.hp1 others(13): Show HG00621.hp1 HG01257.hp1 HG01258.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp2 HG02155.hp1 HG02293.hp2 HG03942.hp1 HG04204.hp1 NA18747.hp2 NA18962.hp1 NA18965.hp1 NA18993.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0013 a0001c0001t0021 others(3): Show a0001c0001t0005 a0001c0001t0013 a0001c0001t0021 a0001c0001t0023 a0001c0001t0037 a0001c0002t0024	a0001c0001t0005g0081 a0001c0001t0005g0102 a0001c0001t0005g0103 others(13): Show a0001c0001t0005g0081 a0001c0001t0005g0102 a0001c0001t0005g0103 a0001c0001t0005g0104 a0001c0001t0005g0106 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0112 a0001c0001t0005g0151 a0001c0001t0005g0161 a0001c0001t0013g0101 a0001c0001t0021g0152 a0001c0001t0023g0111 a0001c0001t0037g0320 a0001c0002t0024g0118	16	144	0.1111	17	c.480 others(34): Show c.480+2946_480+2947insTTTTTTTTTTTTTTTTT	ABI2	ENSG00000138443.17	transcript	ENST00000261018.12	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ABI3BP_chr3_100744156_100998421	100869330	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01975.hp2 HG03834.hp1 others(2): Show HG00140.hp2 HG01975.hp2 HG03834.hp1 NA18995.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0001c0009 others(2): Show a0001c0001 a0001c0005 a0001c0009 a0001c0035 a0002c0008	a0001c0001t0021 a0001c0005t0001 a0001c0009t0001 others(2): Show a0001c0001t0021 a0001c0005t0001 a0001c0009t0001 a0001c0035t0002 a0002c0008t0001	a0001c0001t0021g0106 a0001c0005t0001g0084 a0001c0009t0001g0086 others(2): Show a0001c0001t0021g0106 a0001c0005t0001g0084 a0001c0009t0001g0086 a0001c0035t0002g0161 a0002c0008t0001g0098	5	25	0.2000	17	c.911 others(34): Show c.911-2391_911-2375dupAAAAAAAAAAAAAAAAA	ABI3BP	ENSG00000154175.19	transcript	ENST00000471714.6	protein_coding	9/67			chr3	TogoVar
ABL2_chr1_179094330_179234677	179178401	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00621.hp1 others(51): Show HG00280.hp2 HG00544.hp2 HG00621.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp2 HG02135.hp2 HG02257.hp2 HG02559.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03831.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp2 NA18981.hp2 NA18985.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19009.hp2 NA19054.hp2 NA19062.hp2 NA19074.hp2 NA19077.hp1 NA19082.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp1 NA20129.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0001t0023 a0001c0001t0029 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0054 a0001c0001t0058 a0001c0001t0066 a0001c0002t0006 a0001c0002t0018	a0001c0001t0001g0229 a0001c0001t0002g0031 a0001c0001t0002g0032 others(51): Show a0001c0001t0001g0229 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0004g0288 a0001c0001t0007g0050 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0104 a0001c0001t0007g0112 a0001c0001t0011g0030 a0001c0001t0011g0041 a0001c0001t0011g0063 a0001c0001t0011g0111 a0001c0001t0023g0055 a0001c0001t0023g0077 a0001c0001t0029g0259 a0001c0001t0038g0052 a0001c0001t0041g0120 a0001c0001t0042g0121 a0001c0001t0054g0312 a0001c0001t0058g0293 a0001c0001t0066g0350 a0001c0002t0006g0255 a0001c0002t0006g0256 a0001c0002t0018g0262 a0001c0002t0018g0270	54	203	0.2660	17	c.158 others(36): Show c.158-45044_158-45028dupTTTTTTTTTTTTTTTTT	ABL2	ENSG00000143322.22	transcript	ENST00000502732.6	protein_coding	1/11			chr1	TogoVar
ABLIM1_chr10_114426112_114663275	114437505	G G	GAAACAGG others(10): Show GAAACAGGGTTTAGTAGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03098.hp2 NA19030.hp1 HG00735.hp1 HG03098.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0083 a0001c0002t0033 a0001c0001t0083 a0001c0002t0033	a0001c0001t0083g0017 a0001c0002t0033g0004 a0001c0002t0033g0011 a0001c0001t0083g0017 a0001c0002t0033g0004 a0001c0002t0033g0011	3	254	0.0118	17	c.222 others(34): Show c.2223+338_2223+339insTCTACTAAACCCTGTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	22/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114634129	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01192.hp2 others(4): Show HG01074.hp2 HG01081.hp2 HG01192.hp2 HG02809.hp1 NA18977.hp1 NA18997.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0001t0013 a0001c0001t0072 others(4): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0072 a0001c0001t0144 a0001c0002t0001 a0001c0003t0013 a0001c0003t0126	a0001c0001t0010g0185 a0001c0001t0013g0179 a0001c0001t0072g0174 others(4): Show a0001c0001t0010g0185 a0001c0001t0013g0179 a0001c0001t0072g0174 a0001c0001t0144g0020 a0001c0002t0001g0175 a0001c0003t0013g0180 a0001c0003t0126g0163	7	64	0.1094	17	c.244 others(36): Show c.244+23811_244+23827dupAAAAAAAAAAAAAAAAA	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM1_chr10_114426112_114663275	114644306	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0098 a0001c0002t0098	a0001c0002t0098g0119 a0001c0002t0098g0119	1	79	0.0127	17	c.244 others(36): Show c.244+13650_244+13651insATATTTTTTTTTTTTTT	ABLIM1	ENSG00000099204.22	transcript	ENST00000533213.7	protein_coding	1/22			chr10	TogoVar
ABLIM2_chr4_7960327_8163813	7980941	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp1 others(57): Show HG00099.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG01074.hp2 HG01243.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01975.hp2 HG02015.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp2 HG02451.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02895.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03491.hp2 HG04199.hp2 HG04204.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18955.hp2 NA18962.hp2 NA18983.hp1 NA18984.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19011.hp2 NA19063.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19081.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0022 a0001c0001t0034 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0003 a0001c0003t0004 a0001c0003t0021 a0001c0004t0004	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(57): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0295 a0001c0001t0002g0182 a0001c0001t0002g0242 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0062 a0001c0001t0003g0193 a0001c0001t0003g0270 a0001c0001t0004g0128 a0001c0001t0004g0208 a0001c0001t0004g0224 a0001c0001t0006g0078 a0001c0001t0009g0212 a0001c0001t0011g0139 a0001c0001t0011g0173 a0001c0001t0011g0246 a0001c0001t0022g0138 a0001c0001t0034g0322 a0001c0002t0001g0059 a0001c0002t0001g0098 a0001c0002t0001g0123 a0001c0002t0001g0175 a0001c0002t0001g0249 a0001c0002t0001g0287 a0001c0002t0003g0025 a0001c0002t0003g0031 a0001c0002t0003g0088 a0001c0002t0003g0220 a0001c0002t0003g0280 a0001c0002t0004g0239 a0001c0003t0003g0232 a0001c0003t0004g0030 a0001c0003t0021g0004 a0001c0004t0004g0126	60	143	0.4196	17	c.182 others(36): Show c.1824+2306_1824+2322dupAAAAAAAAAAAAAAAAA	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	20/20			chr4	TogoVar
ABLIM2_chr4_7960327_8163813	8091549	T T	TATATATT others(10): Show TATATATTATATATATTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01071.hp2 HG01074.hp2 others(13): Show HG00438.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01243.hp2 HG01943.hp2 HG01975.hp2 HG02015.hp2 HG02083.hp2 HG02293.hp2 HG03041.hp1 NA18971.hp1 NA19007.hp1 NA19070.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0027 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0053 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0100 a0001c0001t0001g0180 a0001c0001t0001g0195 a0001c0001t0002g0006 a0001c0001t0003g0079 a0001c0001t0003g0188 a0001c0001t0004g0156 a0001c0001t0005g0052 a0001c0001t0018g0001 a0001c0001t0027g0317 a0001c0002t0001g0287 a0001c0002t0002g0041 a0001c0002t0005g0140	16	245	0.0653	17	c.339 others(34): Show c.339-3266_339-3265insTAATATATATAATATAT	ABLIM2	ENSG00000163995.22	transcript	ENST00000447017.7	protein_coding	3/20			chr4	TogoVar
ABLIM3_chr5_149136493_149265542	149170228	T T	TCTCTCTC others(10): Show TCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0214 a0001c0002t0005g0214	1	71	0.0141	17	c.14- others(34): Show c.14-13224_14-13223insCTCTCTCTCTCTCTCTC	ABLIM3	ENSG00000173210.21	transcript	ENST00000309868.12	protein_coding	2/23			chr5	TogoVar
ABRACL_chr6_139023745_139048302	139045630	G G	GACATCTA others(10): Show GACATCTAACAGATGTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp1 HG02630.hp1 others(5): Show HG01891.hp1 HG02622.hp1 HG02630.hp1 HG03209.hp2 HG03471.hp1 HG03540.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0054 others(2): Show a0001c0001t0002g0031 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0133 a0001c0001t0002g0138	8	446	0.0179	17	c.27 others(28): Show c.2727_*2728insACATCTAACAGATGTTA	ABRACL	ENSG00000146386.8	transcript	ENST00000367660.4	protein_coding		2329		chr6	TogoVar
ABRA_chr8_106754483_106775244	106758499	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	2	35	0.0571	17	c.25 others(28): Show c.2537_*2538insAAAAAAAAAAAAAAAAA	ABRA	ENSG00000174429.4	transcript	ENST00000311955.4	protein_coding		983		chr8	TogoVar
ABR_chr17_998519_1184981	1022106	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01884.hp2 HG02071.hp2 others(6): Show HG00438.hp1 HG01884.hp2 HG02071.hp2 HG02698.hp2 HG03486.hp2 HG04199.hp1 HG04228.hp1 NA18955.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0021 a0001c0001t0058 a0001c0001t0087 a0001c0003t0017	a0001c0001t0004g0309 a0001c0001t0005g0323 a0001c0001t0006g0073 others(6): Show a0001c0001t0004g0309 a0001c0001t0005g0323 a0001c0001t0006g0073 a0001c0001t0006g0093 a0001c0001t0006g0209 a0001c0001t0021g0282 a0001c0001t0058g0165 a0001c0001t0087g0296 a0001c0003t0017g0119	9	298	0.0302	17	c.179 others(36): Show c.1792-8959_1792-8943dupTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABR_chr17_998519_1184981	1024024	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG01109.hp1 others(1): Show HG00642.hp1 HG01106.hp1 HG01109.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0057 a0001c0001t0003g0061 a0001c0001t0003g0167 others(1): Show a0001c0001t0001g0057 a0001c0001t0003g0061 a0001c0001t0003g0167 a0001c0001t0005g0285	4	85	0.0471	17	c.179 others(38): Show c.1792-10877_1792-10861dupTTTTTTTTTTTTTTTTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	16/22			chr17	TogoVar
ABTB2_chr11_34145987_34363010	34182497	T T	TGGGGGGG others(10): Show TGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	168	0.0060	17	c.124 others(36): Show c.1245-9191_1245-9190insCCCCCCCCCCCCCCCCC	ABTB2	ENSG00000166016.6	transcript	ENST00000435224.3	protein_coding	3/16			chr11	TogoVar
ABTB3_chr12_107313434_107664642	107508434	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0172 a0002c0002t0007g0172	1	186	0.0054	17	c.113 others(38): Show c.1136-12050_1136-12049insTTTTTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	42	0.0238	17	c.113 others(38): Show c.1136-12035_1136-12019dupTTTTTTTTTTTTTTTTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107525324	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	73	0.0137	17	c.128 others(36): Show c.1285+4698_1285+4714dupAAAAAAAAAAAAAAAAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0137 a0001c0004t0005g0137	1	99	0.0101	17	c.507 others(36): Show c.5079+5239_5079+5240insAAATATATATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0189 a0001c0001t0006g0189	1	99	0.0101	17	c.507 others(36): Show c.5079+5239_5079+5240insAAAAAAAAATATATATA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174021	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0154 a0001c0002t0001g0154	1	274	0.0036	17	c.507 others(36): Show c.5079+5238_5079+5239insTATATATATATATATAT	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109126946	C C	CATAAATT others(10): Show CATAAATTAATAAAAAAA	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0077 a0001c0003t0002g0077	1	306	0.0033	17	c.-10 others(36): Show c.-10+10242_-10+10243insATAAATTAATAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109133864	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0070 a0002c0070	a0002c0070t0005 a0002c0070t0005	a0002c0070t0005g0200 a0002c0070t0005g0200	1	241	0.0041	17	c.-9- others(32): Show c.-9-5533_-9-5532insATATATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	1/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109206428	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01258.hp2 HG01884.hp1 others(1): Show HG01106.hp2 HG01258.hp2 HG01884.hp1 HG02559.hp2	a0009 a0019 a0025 a0009 a0019 a0025	a0009c0025 a0019c0123 a0025c0066 a0009c0025 a0019c0123 a0025c0066	a0009c0025t0001 a0019c0123t0015 a0025c0066t0015 a0009c0025t0001 a0019c0123t0015 a0025c0066t0015	a0009c0025t0001g0267 a0009c0025t0001g0299 a0019c0123t0015g0058 others(1): Show a0009c0025t0001g0267 a0009c0025t0001g0299 a0019c0123t0015g0058 a0025c0066t0015g0115	4	177	0.0226	17	c.291 others(34): Show c.2914-266_2914-265insAAAAAAAAAAAAAAAAA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	19/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACB_chr12_109111587_109273226	109262950	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0211 a0001c0034t0001g0211	1	25	0.0400	17	c.678 others(34): Show c.6787+481_6787+482insATATATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52			chr12	TogoVar
ACACB_chr12_109111587_109273226	109262962	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0088 a0003c0001t0001g0088	1	306	0.0033	17	c.678 others(34): Show c.6787+494_6787+510dupTATATATATATATATAT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	49/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAD9_chr3_128874620_128918114	128913477	T T	TTACACCA others(10): Show TTACACCAGGTCCCAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00735.hp2 others(45): Show HG00323.hp2 HG00423.hp1 HG00735.hp2 HG00738.hp2 HG01167.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01515.hp1 HG01952.hp1 HG01978.hp2 HG02071.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02300.hp2 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03688.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp1 NA18960.hp1 NA18977.hp2 NA19007.hp1 NA19077.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 others(27): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0194 a0001c0003t0002g0004 a0001c0003t0002g0156	48	370	0.1297	17	c.87 others(26): Show c.870_*871insTACACCAGGTCCCAGCG	ACAD9	ENSG00000177646.20	transcript	ENST00000308982.12	protein_coding		364		chr3	TogoVar
ACADL_chr2_210182923_210230447	210214467	A A	AAGAAGAA others(10): Show AAGAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	22	0.0455	17	c.536 others(34): Show c.536+1879_536+1880insCTTTCTTTCTTTCTTCT	ACADL	ENSG00000115361.8	transcript	ENST00000233710.4	protein_coding	4/10			chr2	TogoVar
ACADM_chr1_75719709_75768679	75737279	A A	AATTATAT others(10): Show AATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	101	0.0099	17	c.468 others(34): Show c.468+2410_468+2411insTATATATATATATATAT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACADSB_chr10_123004006_123063290	123056850	G G	GTTATAAT others(10): Show GTTATAATTTAAATAAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0042 a0002c0003t0042	a0002c0003t0042g0140 a0002c0003t0042g0140	1	372	0.0027	17	c.30 others(28): Show c.3088_*3089insTAATTTAAATAAGATTA	ACADSB	ENSG00000196177.13	transcript	ENST00000358776.7	protein_coding	11/11	3089	INFO_REALIGN_3_PRIME	chr10	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19091.hp2 HG02040.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0044 a0001c0002t0004g0050 a0001c0002t0004g0044 a0001c0002t0004g0050	2	250	0.0080	17	c.176 others(34): Show c.1765+110_1765+111insATATATTTTTTTTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0039 a0001c0002t0015g0039	1	249	0.0040	17	c.176 others(34): Show c.1765+110_1765+111insATATATATATATTTTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar
ACAP2_chr3_195269745_195448020	195294608	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19078.hp2 HG00673.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0048 a0001c0002t0004g0025 a0001c0002t0004g0048	2	250	0.0080	17	c.176 others(34): Show c.1765+110_1765+111insATATATATATATATTTT	ACAP2	ENSG00000114331.16	transcript	ENST00000326793.11	protein_coding	18/22			chr3	TogoVar

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