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
AKAP6_chr14_32324298_32842684	32615591	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0017	a0001c0006t0017g0079 a0001c0006t0017g0079	1	105	0.0095	24	c.273 others(45): Show c.2730+14821_2730+14822insTTTTTTTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32769037	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0004 a0006c0008t0004	a0006c0008t0004g0117 a0006c0008t0004g0117	1	16	0.0625	24	c.337 others(43): Show c.3373-4637_3373-4614dupTTTTTTTTTTTTTTTTTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780157	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp1 HG02723.hp2 HG03098.hp1	a0001 a0005 a0001 a0005	a0001c0006 a0005c0011 a0001c0006 a0005c0011	a0001c0006t0007 a0005c0011t0009 a0001c0006t0007 a0005c0011t0009	a0001c0006t0007g0099 a0005c0011t0009g0153 a0001c0006t0007g0099 a0005c0011t0009g0153	2	75	0.0267	24	c.358 others(43): Show c.3588+6278_3588+6279insATATATATATATATATATATATAT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32800153	C C	CATATATA others(17): Show CATATATATACACATATATATACAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02886.hp2 HG03130.hp1 others(1): Show HG02572.hp2 HG02886.hp2 HG03130.hp1 NA20129.hp1	a0001 a0020 a0024 a0001 a0020 a0024	a0001c0001 a0020c0028 a0024c0022 a0001c0001 a0020c0028 a0024c0022	a0001c0001t0020 a0020c0028t0033 a0024c0022t0013 a0001c0001t0020 a0020c0028t0033 a0024c0022t0013	a0001c0001t0020g0072 a0001c0001t0020g0130 a0020c0028t0033g0148 others(1): Show a0001c0001t0020g0072 a0001c0001t0020g0130 a0020c0028t0033g0148 a0024c0022t0013g0045	4	149	0.0268	24	c.358 others(45): Show c.3589-21217_3589-21194dupTACACATATATATACATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241607	G G	GTGTGTGT others(17): Show GTGTGTGTGTATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0159 a0001c0001t0041g0159	1	281	0.0036	24	c.850 others(43): Show c.850+21808_850+21809insATATACGTATATATATGTGTGTGT	AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP8L_chr19_15375050_15423988	15392896	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	168	0.0060	24	c.153 others(43): Show c.1536+4253_1536+4254insTTTTTTTTTTTTTTTTTTTTTTTT	AKAP8L	ENSG00000011243.19	transcript	ENST00000397410.10	protein_coding	12/13			chr19	TogoVar
AKAP9_chr7_91935862_92115673	92061584	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18973.hp2 HG01081.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0136 a0001c0001t0001g0016 a0001c0001t0001g0136	2	39	0.0513	24	c.576 others(41): Show c.5764+175_5764+198dupTATATATATATATATATATATATA	AKAP9	ENSG00000127914.19	transcript	ENST00000356239.8	protein_coding	23/49		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKIP1_chr11_8906189_8925079	8910709	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	269	0.0037	24	c.-52 others(33): Show c.-521_-520insGTGTGTGTGTGTGTGTGTGTGTGT	AKIP1	ENSG00000166452.12	transcript	ENST00000309377.9	protein_coding		479		chr11	TogoVar
AKIRIN1_chr1_38986276_39011059	38994672	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG04204.hp2 NA19043.hp1 HG03486.hp1 HG04204.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0214	3	19	0.1579	24	c.220 others(41): Show c.220+3083_220+3106dupTTTTTTTTTTTTTTTTTTTTTTTT	AKIRIN1	ENSG00000174574.16	transcript	ENST00000432648.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03927.hp2 HG01167.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0041 a0001c0001t0004 a0001c0001t0041	a0001c0001t0004g0311 a0001c0001t0041g0325 a0001c0001t0004g0311 a0001c0001t0041g0325	2	37	0.0541	24	c.530 others(39): Show c.530-689_530-666dupGTGTGTGTGTGTGTGTGTGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87676596	A A	AACACACG others(17): Show AACACACGCACGCGCGCGCACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0059 a0001c0002t0006g0059	1	36	0.0278	24	c.530 others(39): Show c.530-666_530-665insGTGTGTGCGCGCGCGTGCGTGTGT	AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding	3/4			chr6	TogoVar
AKNAD1_chr1_108810901_108862094	108827813	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0015 a0015	a0015c0034 a0015c0034	a0015c0034t0003 a0015c0034t0003	a0015c0034t0003g0098 a0015c0034t0003g0098	1	219	0.0046	24	c.183 others(41): Show c.1839-512_1839-511insTTTTTTTTTTTTTTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	10/15			chr1	TogoVar
AKNAD1_chr1_108810901_108862094	108839471	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAGAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0008 a0008	a0008c0044 a0008c0044	a0008c0044t0001 a0008c0044t0001	a0008c0044t0001g0276 a0008c0044t0001g0276	1	40	0.0250	24	c.138 others(43): Show c.1380-1766_1380-1765insTTTTTTTTTTTTCTTTTTTTTTTT	AKNAD1	ENSG00000162641.20	transcript	ENST00000370001.8	protein_coding	6/15			chr1	TogoVar
AKR1B10_chr7_134522567_134546412	134527015	C C	CTCCCTCC others(17): Show CTCCCTCCCTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	1	59	0.0169	24	c.-89 others(33): Show c.-897_-896insTCCCTCCCTCCTTCCTTCCTTCCT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		551		chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134527015	C C	CTCCCTCC others(17): Show CTCCCTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00639.hp2 others(9): Show HG00280.hp1 HG00280.hp2 HG00639.hp2 HG00642.hp2 HG01192.hp2 HG02145.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03453.hp2 HG03516.hp1 HG03710.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0002 a0004c0006t0009 a0001c0002t0002 a0004c0006t0009	a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0025 others(4): Show a0001c0002t0002g0005 a0001c0002t0002g0010 a0001c0002t0002g0025 a0001c0002t0002g0060 a0001c0002t0002g0148 a0001c0002t0002g0155 a0004c0006t0009g0158	12	70	0.1714	24	c.-89 others(33): Show c.-897_-896insTCCCTCCTTCCTTCCTTCCTTCCT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		551		chr7	TogoVar
AKR1B10_chr7_134522567_134546412	134527015	C C	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG02080.hp1 HG02132.hp1 others(8): Show HG00423.hp1 HG02080.hp1 HG02132.hp1 NA18941.hp2 NA18942.hp2 NA18977.hp1 NA18997.hp1 NA19002.hp2 NA19004.hp1 NA19059.hp2 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0002c0003t0001g0006 a0002c0003t0001g0011 others(5): Show a0001c0001t0001g0001 a0002c0003t0001g0006 a0002c0003t0001g0011 a0002c0003t0001g0013 a0002c0003t0001g0037 a0002c0003t0001g0041 a0002c0003t0001g0074 a0002c0003t0001g0079	11	69	0.1594	24	c.-89 others(33): Show c.-897_-896insTCCTTCCTTCCTTCCTTCCTTCCT	AKR1B10	ENSG00000198074.10	transcript	ENST00000359579.5	protein_coding		551		chr7	TogoVar
AKR1B15_chr7_134544110_134584869	134562832	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	66	0.0152	24	c.-22 others(41): Show c.-22-1731_-22-1708dupTTTCTTTCTTTCTTTCTTTCTTTC	AKR1B15	ENSG00000227471.9	transcript	ENST00000457545.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1C3_chr10_5089414_5112686	5105281	A A	ATGACCCT others(17): Show ATGACCCTATCATGTGGGCACAATG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	68	0.0147	24	c.847 others(39): Show c.847-288_847-265dupGACCCTATCATGTGGGCACAATGT	AKR1C3	ENSG00000196139.14	transcript	ENST00000380554.5	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
AKR1C4_chr10_5191837_5223949	5221401	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	60	0.0167	24	c.26 others(35): Show c.2641_*2642insAAAAAAAAAAAAAAAAAAAAAAAA	AKR1C4	ENSG00000198610.11	transcript	ENST00000263126.3	protein_coding		2453		chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5156525	G G	GATCTATC others(17): Show GATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0004c0005 a0002c0003 a0004c0005	a0002c0003t0001 a0004c0005t0004 a0002c0003t0001 a0004c0005t0004	a0002c0003t0001g0225 a0004c0005t0004g0217 a0002c0003t0001g0225 a0004c0005t0004g0217	2	322	0.0062	24	c.856 others(39): Show c.856-792_856-769dupAGATAGATAGATAGATAGATAGAT	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/8			chr10	TogoVar
AKR1C8_chr10_5148920_5190150	5156554	A A	ATCTATCT others(17): Show ATCTATCTATCTATCTATCTATCTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG02071.hp2 others(2): Show HG01106.hp1 HG01433.hp2 HG02071.hp2 HG02132.hp1 HG02602.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0075 a0003c0004t0002g0079 a0003c0004t0002g0084 others(2): Show a0003c0004t0002g0075 a0003c0004t0002g0079 a0003c0004t0002g0084 a0003c0004t0002g0085 a0003c0004t0002g0162	5	375	0.0133	24	c.856 others(39): Show c.856-798_856-797insAAGATAGATAGATAGATAGATAGA	AKR1C8	ENSG00000264006.9	transcript	ENST00000648824.2	protein_coding	7/8			chr10	TogoVar
AKR1D1_chr7_138071459_138123305	138101149	T T	TTCTTTCC others(17): Show TTCTTTCCCTCCCTCCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0306 a0001c0001t0020g0306	1	336	0.0030	24	c.456 others(41): Show c.456+3208_456+3209insTTTCCCTCCCTCCCTCCCTCCCTC	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT3_chr1_243494724_243855243	243525768	T T	TAAGAAAG others(17): Show TAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp1 HG00735.hp2 others(20): Show HG00280.hp1 HG00423.hp1 HG00735.hp2 HG01070.hp1 HG01109.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 NA18747.hp2 NA18943.hp1 NA18974.hp1 NA18998.hp1 NA18999.hp2 NA19002.hp2 NA19007.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0019 a0001c0001t0033 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039	a0001c0001t0001g0048 a0001c0001t0001g0121 a0001c0001t0001g0140 others(20): Show a0001c0001t0001g0048 a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0001g0148 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0253 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0007g0267 a0001c0001t0019g0270 a0001c0001t0033g0145 a0001c0001t0036g0029 a0001c0001t0038g0233 a0001c0001t0039g0268	23	118	0.1949	24	c.125 others(45): Show c.1252-13366_1252-13343dupTCTTTCTTTCTTTCTTTCTTTCTT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	12/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686630	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02735.hp2 HG02486.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0207 a0001c0001t0005g0299 a0001c0001t0001g0207 a0001c0001t0005g0299	2	221	0.0090	24	c.172 others(41): Show c.172+8960_172+8961insATATATATATATATATATATATAT	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	195	0.0051	24	c.172 others(41): Show c.172+8939_172+8940insAATATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243699465	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19068.hp1 HG00621.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0001 a0001c0001t0025	a0001c0001t0001g0052 a0001c0001t0025g0010 a0001c0001t0001g0052 a0001c0001t0025g0010	2	20	0.1000	24	c.47- others(39): Show c.47-3773_47-3750dupTATATATATATATATATATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
AKT3_chr1_243494724_243855243	243815776	A A	AGTTGTTG others(17): Show AGTTGTTGTTGTTGTTGTTGTTGTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02056.hp2 NA18943.hp1 others(2): Show HG01106.hp1 HG02056.hp2 NA18943.hp1 NA18999.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0018	a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0031 others(2): Show a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0003g0031 a0001c0001t0008g0072 a0001c0001t0018g0196	5	104	0.0481	24	c.46+ others(41): Show c.46+27348_46+27349insAACAACAACAACAACAACAACAAC	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	2/13			chr1	TogoVar
ALAD_chr9_113381312_113406284	113381412	C C	CCTCCCTC others(17): Show CCTCCCTCCCTCCCTCTCTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	79	0.0127	24	c.68 others(35): Show c.6887_*6888insAGAGAGAGAGAGGGAGGGAGGGAG	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4899		chr9	TogoVar
ALAD_chr9_113381312_113406284	113381760	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0168 a0001c0003t0002g0168	1	142	0.0070	24	c.65 others(35): Show c.6539_*6540insAAAAAAAAAAAAAAAAAAAAAAAA	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding		4551		chr9	TogoVar
ALCAM_chr3_105361909_105581900	105368223	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01175.hp2 others(16): Show HG00323.hp2 HG00438.hp2 HG01175.hp2 HG01928.hp1 HG01934.hp1 HG01981.hp2 HG02132.hp1 HG02698.hp1 HG02965.hp1 HG03831.hp1 NA18906.hp2 NA18945.hp2 NA18963.hp2 NA18973.hp1 NA18982.hp2 NA18990.hp2 NA18991.hp1 NA18995.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0002t0017 a0001c0003t0001 a0001c0003t0002 a0002c0004t0002	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0274 others(16): Show a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0004g0270 a0001c0001t0004g0271 a0001c0001t0004g0273 a0001c0002t0001g0056 a0001c0002t0001g0267 a0001c0002t0003g0268 a0001c0002t0003g0269 a0001c0002t0008g0272 a0001c0002t0017g0059 a0001c0003t0001g0057 a0001c0003t0002g0062 a0002c0004t0002g0060	19	59	0.3220	24	c.73+ others(37): Show c.73+760_73+783dupGAGAGAGAGAGAGAGAGAGAGAGA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105486957	C C	CATTTATT others(17): Show CATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp1 HG01168.hp2 others(20): Show HG00099.hp1 HG00735.hp1 HG01168.hp2 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01934.hp2 HG02004.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG03486.hp1 HG03579.hp2 HG03831.hp2 HG03834.hp1 NA18612.hp1 NA18959.hp1 NA18988.hp2 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA19089.hp1 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0006c0013	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0006c0013t0001	a0001c0001t0001g0088 a0001c0001t0001g0291 a0001c0001t0001g0304 others(20): Show a0001c0001t0001g0088 a0001c0001t0001g0291 a0001c0001t0001g0304 a0001c0002t0001g0035 a0001c0002t0001g0201 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0249 a0001c0002t0003g0026 a0001c0002t0003g0123 a0001c0002t0003g0132 a0001c0002t0003g0228 a0001c0002t0003g0269 a0001c0002t0003g0276 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0312 a0001c0002t0003g0368 a0001c0002t0003g0369 a0001c0002t0003g0370 a0001c0003t0001g0072 a0006c0013t0001g0305	23	164	0.1402	24	c.74- others(41): Show c.74-33108_74-33085dupTTTATTTATTTATTTATTTATTTA	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALCAM_chr3_105361909_105581900	105486957	C C	CATTTATT others(17): Show CATTTATTTATTTTTTTATTTATTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03492.hp1 HG02602.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0243 a0001c0002t0001g0164 a0001c0002t0001g0243	2	143	0.0140	24	c.74- others(41): Show c.74-33098_74-33097insTTTTATTTATTTATTTATTTATTT	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49451966	T T	TGCCACAC others(17): Show TGCCACACTTCCTGTATCTATGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0004 a0002c0002t0010g0004	1	340	0.0029	24	c.-13 others(35): Show c.-1366_-1365insGCCACACTTCCTGTATCTATGAAA	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding		1258		chr19	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCACACAC others(17): Show GCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0051 a0002c0003t0003g0051	1	167	0.0060	24	c.148 others(43): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTGTGTGTGTGTG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1A2_chr15_57948429_58070711	57958214	G G	GCGCACAC others(17): Show GCGCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01943.hp1 HG02273.hp2 others(1): Show HG01928.hp2 HG01943.hp1 HG02273.hp2 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0007g0010 others(1): Show a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0007g0010 a0002c0002t0007g0011	4	170	0.0235	24	c.148 others(43): Show c.1484+2555_1484+2556insTGTGTGTGTGTGTGTGTGTGTGCG	ALDH1A2	ENSG00000128918.15	transcript	ENST00000249750.9	protein_coding	12/12			chr15	TogoVar
ALDH1L2_chr12_105014790_105089458	105071614	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0201 a0001c0002t0002g0201	1	355	0.0028	24	c.194 others(39): Show c.194-834_194-811dupTATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(17): Show ATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	183	0.0055	24	c.194 others(39): Show c.194-839_194-838insAATATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(17): Show ATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03669.hp2 NA18999.hp2 HG00140.hp1 HG03669.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0003g0189 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0003g0189	3	185	0.0162	24	c.194 others(39): Show c.194-839_194-838insAAAATATATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105071642	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0344 a0001c0002t0010g0344	1	183	0.0055	24	c.194 others(39): Show c.194-839_194-838insAAAAAAAATATATATATATATATA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding	2/22			chr12	TogoVar
ALDH1L2_chr12_105014790_105089458	105088785	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTGTCTCTGTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0226 a0001c0001t0008g0226	1	13	0.0769	24	c.-43 others(35): Show c.-4350_-4349insGAGACAGAGACAGAGAGAGAGAGA	ALDH1L2	ENSG00000136010.14	transcript	ENST00000258494.14	protein_coding		4328		chr12	TogoVar
ALDH4A1_chr1_18866430_18907555	18876661	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0091 a0001c0007t0001g0091	1	9	0.1111	24	c.118 others(41): Show c.1186-195_1186-194insCACACACACACATACACACACACA	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14			chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18876661	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(74): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01516.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02165.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02738.hp1 HG03139.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18943.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18954.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18995.hp2 NA19003.hp1 NA19010.hp2 NA19011.hp1 NA19058.hp2 NA19063.hp2 NA19074.hp1 NA19079.hp1 NA19082.hp2 NA19088.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0004 a0015 a0001 a0004 a0015	a0001c0001 a0001c0002 a0001c0005 others(7): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0030 a0004c0018 a0004c0019 a0004c0020 a0015c0029	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0020 a0001c0001t0034 a0001c0002t0001 a0001c0002t0008 a0001c0005t0001 a0001c0005t0002 a0001c0005t0021 a0001c0007t0001 a0001c0010t0003 a0001c0010t0029 a0001c0030t0011 a0004c0018t0014 a0004c0019t0013 a0004c0020t0013 a0015c0029t0035	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0055 others(62): Show a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0055 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0103 a0001c0001t0001g0137 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0156 a0001c0001t0001g0212 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0268 a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0304 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0065 a0001c0001t0003g0087 a0001c0001t0003g0282 a0001c0001t0006g0073 a0001c0001t0008g0043 a0001c0001t0020g0068 a0001c0001t0034g0341 a0001c0002t0001g0012 a0001c0002t0001g0099 a0001c0002t0001g0104 a0001c0002t0001g0127 a0001c0002t0001g0242 a0001c0002t0008g0081 a0001c0002t0008g0084 a0001c0005t0001g0007 a0001c0005t0001g0056 a0001c0005t0001g0074 a0001c0005t0001g0082 a0001c0005t0001g0122 a0001c0005t0001g0132 a0001c0005t0001g0135 a0001c0005t0001g0172 a0001c0005t0001g0223 a0001c0005t0001g0227 a0001c0005t0001g0264 a0001c0005t0002g0213 a0001c0005t0002g0235 a0001c0005t0002g0240 a0001c0005t0002g0241 a0001c0005t0002g0303 a0001c0005t0021g0092 a0001c0007t0001g0126 a0001c0007t0001g0157 a0001c0007t0001g0230 a0001c0010t0003g0041 a0001c0010t0003g0054 a0001c0010t0029g0045 a0001c0030t0011g0321 a0004c0018t0014g0339 a0004c0019t0013g0336 a0004c0020t0013g0334 a0004c0020t0013g0335 a0015c0029t0035g0340	77	85	0.9059	24	c.118 others(41): Show c.1186-195_1186-194insCACACACACACACACACACACACA	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14			chr1	TogoVar
ALDH4A1_chr1_18866430_18907555	18876665	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18522.hp1 HG03516.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0279 a0001c0001t0001g0093 a0001c0001t0001g0279	2	400	0.0050	24	c.118 others(41): Show c.1186-199_1186-198insTACACACACACACACACACACACA	ALDH4A1	ENSG00000159423.17	transcript	ENST00000375341.8	protein_coding	11/14			chr1	TogoVar
ALDH5A1_chr6_24489969_24542207	24522478	C C	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00609.hp1 others(16): Show HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp2 HG01257.hp1 HG01261.hp1 HG02602.hp1 HG02683.hp2 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18945.hp2 NA18981.hp1 NA19000.hp2 NA19056.hp2 NA19058.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0024 a0001c0001t0031 a0001c0001t0001 a0001c0001t0024 a0001c0001t0031	a0001c0001t0001g0024 a0001c0001t0001g0171 a0001c0001t0001g0177 others(16): Show a0001c0001t0001g0024 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0024g0214 a0001c0001t0031g0197	19	216	0.0880	24	c.101 others(41): Show c.1015-286_1015-263dupGTGTGTGTGTGTGTGTGTGTGTGT	ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
ALG12_chr22_49895229_49923438	49919032	T T	TCGCCCCC others(17): Show TCGCCCCCACCGTGGGCCCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0071 a0001c0002t0003g0071	1	346	0.0029	24	c.-84 others(33): Show c.-849_-848insGACCCCGGGCCCACGGTGGGGGCG	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		595		chr22	TogoVar
ALG14_chr1_94969405_95077951	95045664	G G	GTATACTA others(17): Show GTATACTAATAGAATTAGCATACTA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0188 a0001c0001t0188	a0001c0001t0188g0114 a0001c0001t0188g0114	1	346	0.0029	24	c.289 others(43): Show c.289-18428_289-18405dupTAGTATGCTAATTCTATTAGTATA	ALG14	ENSG00000172339.10	transcript	ENST00000370205.6	protein_coding	2/3			chr1	TogoVar
ALG6_chr1_63362627_63443553	63422274	T T	TATATAAA others(17): Show TATATAAATATATATATTTATATAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	365	0.0027	24	c.105 others(43): Show c.1058+2849_1058+2872dupATTTATATAGATATAAATATATAT	ALG6	ENSG00000088035.18	transcript	ENST00000263440.6	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALG8_chr11_78095946_78144626	78130361	A A	AAAAAAAA others(17): Show AAAAAAAAAAGAAAAGAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp1 HG03225.hp1 others(10): Show HG01884.hp2 HG02976.hp1 HG03225.hp1 HG03453.hp2 HG03516.hp2 NA18952.hp1 NA18957.hp1 NA18960.hp1 NA18972.hp2 NA18991.hp1 NA19009.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0057 others(8): Show a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0113	13	302	0.0430	24	c.96- others(39): Show c.96-2926_96-2925insCTTTCTTTTCTTTTCTTTTTTTTT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding	1/12			chr11	TogoVar
ALG8_chr11_78095946_78144626	78143317	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	112	0.0089	24	c.-37 others(35): Show c.-3730_-3729insGTGTGTGTGTGTGTGTGTGTGTGT	ALG8	ENSG00000159063.14	transcript	ENST00000299626.10	protein_coding		3692		chr11	TogoVar
ALG9_chr11_111777195_111876581	111850706	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	10	0.1000	24	c.895 others(41): Show c.895+2673_895+2674insTTTTTTTTTTTTTTTTTTTTTTTT	ALG9	ENSG00000086848.15	transcript	ENST00000616540.5	protein_coding	8/14			chr11	TogoVar

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