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
NPHP4_chr1_5857811_5997425	5964941	A A	ATATATTT others(18): Show ATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0172 a0001c0005t0001g0172	1	32	0.0313	25	c.517 others(42): Show c.517+2357_517+2358insAAAAAAAAAAAAAAAAAAAAATATA	NPHP4	ENSG00000131697.18	transcript	ENST00000378156.9	protein_coding	5/29			chr1	TogoVar
NPIPA8_chr16_18312919_18341736	18341450	G G	GGGAATTG others(18): Show GGGAATTGGGGGAGCGGGATGAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	40	0.0250	25	c.-51 others(36): Show c.-5144_-5143insATCCTCATCCCGCTCCCCCAATTCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4715		chr16	TogoVar
NPIPB15_chr16_74371306_74397115	74392280	C C	CCCAGGCT others(18): Show CCCAGGCTGGAGTGCAGTGGCTCGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	257	0.0039	25	c.20 others(34): Show c.200_*201insCCAGGCTGGAGTGCAGTGGCTCGAT	NPIPB15	ENSG00000196436.9	transcript	ENST00000692376.1	protein_coding		166		chr16	TogoVar
NPIPB9_chr16_28746787_28777864	28776657	T T	TATAAGGG others(18): Show TATAAGGGATCGCTCTACCTGACCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0013 a0006c0008t0001g0013	1	178	0.0056	25	c.39 others(36): Show c.3902_*3903insATAAGGGATCGCTCTACCTGACCTG	NPIPB9	ENSG00000196993.9	transcript	ENST00000357796.8	protein_coding		3794		chr16	TogoVar
NPNT_chr4_105890471_105976671	105920395	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0131 a0003c0014t0001g0131	1	27	0.0370	25	c.173 others(42): Show c.173-6917_173-6916insAAAAAAAAAAAAAAAAAAAAAAAAA	NPNT	ENSG00000168743.13	transcript	ENST00000379987.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
NPPB_chr1_11852464_11863945	11853617	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00735.hp2 others(10): Show HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01074.hp1 HG01074.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02004.hp1 HG02293.hp2 HG04184.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	13	388	0.0335	25	c.40 others(36): Show c.4037_*4038insGTTTTGTTTTGTTTTGTTTTGTTTT	NPPB	ENSG00000120937.9	transcript	ENST00000376468.4	protein_coding		3846		chr1	TogoVar
NPRL3_chr16_80386_143673	103296	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0026 a0004c0006t0001g0026	1	34	0.0294	25	c.630 others(42): Show c.630-2812_630-2788dupAAAAAAAAAAAAAAAAAAAAAAAAA	NPRL3	ENSG00000103148.17	transcript	ENST00000611875.5	protein_coding	7/13			chr16	TogoVar
NPSR1_chr7_34653218_34854978	34790724	T T	TTATATGT others(18): Show TTATATGTTATATGTTATATATAATA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01243.hp2 others(12): Show HG00733.hp2 HG00741.hp1 HG01243.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03139.hp1 HG03516.hp2 NA19240.hp1 NA20805.hp2	a0001 a0003 a0018 a0001 a0003 a0018	a0001c0002 a0003c0005 a0018c0025 a0001c0002 a0003c0005 a0018c0025	a0001c0002t0002 a0001c0002t0003 a0003c0005t0002 others(2): Show a0001c0002t0002 a0001c0002t0003 a0003c0005t0002 a0003c0005t0004 a0018c0025t0002	a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0207 others(12): Show a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0207 a0001c0002t0002g0222 a0001c0002t0003g0150 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0253 a0001c0002t0003g0255 a0003c0005t0002g0134 a0003c0005t0002g0135 a0003c0005t0002g0189 a0003c0005t0002g0218 a0003c0005t0004g0217 a0018c0025t0002g0223	15	257	0.0584	25	c.384 others(44): Show c.384+12163_384+12187dupATGTTATATGTTATATATAATATAT	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPSR1_chr7_34653218_34854978	34823399	G G	GAAAAAAA others(18): Show GAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0003 a0005c0021t0003	a0005c0021t0003g0209 a0005c0021t0003g0209	1	94	0.0106	25	c.479 others(42): Show c.479-3985_479-3984insAAAAAAAAAAAAAAAAAAAAAAAAA	NPSR1	ENSG00000187258.14	transcript	ENST00000360581.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
NPTXR_chr22_38813452_38849028	38813900	T T	TTTCTCTT others(18): Show TTTCTCTTCTCTTCTCTTCTCTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG03471.hp1 HG03927.hp2 HG02698.hp1 HG03471.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004	a0001c0001t0007g0123 a0001c0002t0002g0002 a0001c0002t0004g0015 a0001c0001t0007g0123 a0001c0002t0002g0002 a0001c0002t0004g0015	3	138	0.0217	25	c.87 others(36): Show c.8708_*8709insGAGAAGAGAAGAGAAGAGAAGAGAA	NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding		4551		chr22	TogoVar
NPTXR_chr22_38813452_38849028	38837845	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(70): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG01099.hp1 HG01099.hp2 HG01884.hp1 HG01884.hp2 HG02015.hp1 HG02015.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02451.hp1 HG02698.hp2 HG02738.hp1 HG02818.hp1 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp2 HG03704.hp2 HG03710.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp1 NA18942.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp1 NA18963.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18972.hp2 NA18977.hp2 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18993.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19056.hp1 NA19057.hp2 NA19060.hp2 NA19065.hp1 NA19068.hp2 NA19078.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0038 a0001c0002t0004 a0001c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0023 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0073 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0174 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0006g0024 a0001c0001t0006g0074 a0001c0001t0006g0084 a0001c0001t0006g0098 a0001c0001t0006g0099 a0001c0001t0006g0180 a0001c0001t0007g0072 a0001c0001t0007g0094 a0001c0001t0007g0095 a0001c0001t0007g0104 a0001c0001t0010g0106 a0001c0001t0011g0089 a0001c0001t0011g0107 a0001c0001t0011g0146 a0001c0001t0016g0100 a0001c0001t0020g0101 a0001c0001t0024g0038 a0001c0001t0027g0148 a0001c0001t0038g0145 a0001c0002t0004g0086 a0001c0002t0004g0092 a0001c0002t0004g0102 a0001c0006t0001g0088	73	245	0.2980	25	c.624 others(42): Show c.624+5365_624+5389dupTAAAATAAAATAAAATAAAATAAAA	NPTXR	ENSG00000221890.6	transcript	ENST00000333039.4	protein_coding	1/4			chr22	TogoVar
NPY4R2_chr10_47913662_47928524	47918383	G G	GAGAGAAG others(18): Show GAGAGAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	87	0.0115	25	c.-77 others(34): Show c.-775_-774insAGAGAAGAAAGAAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		278		chr10	TogoVar
NPY4R2_chr10_47913662_47928524	47918433	G G	GAAAGAAA others(18): Show GAAAGAAAGAAAGAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG04199.hp2 HG02523.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0007 a0001c0003t0001g0030 a0001c0003t0001g0007 a0001c0003t0001g0030	2	250	0.0080	25	c.-72 others(34): Show c.-725_-724insAAAGAAAGAAAGAAGAAAGAAAGAA	NPY4R2	ENSG00000264717.6	transcript	ENST00000576178.7	protein_coding		228		chr10	TogoVar
NR0B1_chrX_30299206_30314390	30301017	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	319	0.0031	25	c.35 others(36): Show c.3561_*3562insCTCTCTCTCTCTCTCTCTCTCTCTC	NR0B1	ENSG00000169297.8	transcript	ENST00000378970.5	protein_coding		3188		chrX	TogoVar
NR1H4_chr12_100468866_100569414	100555976	T T	TTGCTCAA others(18): Show TTGCTCAACAAAGACATTGTTGTTAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	306	0.0033	25	c.107 others(44): Show c.1079-5907_1079-5883dupGCTCAACAAAGACATTGTTGTTAAT	NR1H4	ENSG00000012504.15	transcript	ENST00000392986.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr12	TogoVar
NR2C1_chr12_95015229_95078618	95019484	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02027.hp2 NA18961.hp2 others(11): Show HG00609.hp1 HG02027.hp2 NA18961.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp2 NA18985.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA19000.hp1 NA19010.hp2 NA19058.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0178 a0001c0001t0001g0324 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0332 a0001c0001t0001g0340 a0001c0001t0001g0344 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0352	14	361	0.0388	25	c.27 others(36): Show c.2744_*2745insAAAAAAAAAAAAAAAAAAAAAAAAA	NR2C1	ENSG00000120798.17	transcript	ENST00000333003.10	protein_coding		744		chr12	TogoVar
NR2F6_chr19_17226883_17250919	17229556	T T	TAAGGCGC others(18): Show TAAGGCGCAACAGCCGCCCATCGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	412	0.0024	25	c.27 others(36): Show c.2795_*2796insCTTCGATGGGCGGCTGTTGCGCCTT	NR2F6	ENSG00000160113.6	transcript	ENST00000291442.4	protein_coding		2326		chr19	TogoVar
NR3C2_chr4_148073764_148447414	148148083	T T	TGGATAAT others(18): Show TGGATAATTCTTCAAAGGCAAGTCAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00438.hp2 HG00544.hp2 others(44): Show HG00323.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG01074.hp2 HG01106.hp2 HG01167.hp2 HG01175.hp1 HG01243.hp1 HG01257.hp1 HG01358.hp1 HG01496.hp1 HG01943.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02074.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp2 HG02735.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03540.hp1 HG03831.hp2 NA18948.hp2 NA18957.hp1 NA18964.hp2 NA18970.hp2 NA18972.hp2 NA18977.hp1 NA18983.hp2 NA18998.hp1 NA18998.hp2 NA19010.hp2 NA19057.hp1 NA19062.hp1 NA19082.hp2 NA19084.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0004 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0021 a0001c0001t0022 a0001c0003t0001 a0002c0002t0001 a0002c0002t0014 a0003c0004t0001 a0006c0009t0007	a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0096 others(44): Show a0001c0001t0001g0052 a0001c0001t0001g0061 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0002g0104 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0118 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0128 a0001c0001t0003g0133 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0147 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0158 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0004g0167 a0001c0001t0007g0146 a0001c0001t0008g0094 a0001c0001t0012g0169 a0001c0001t0012g0170 a0001c0001t0013g0071 a0001c0001t0021g0157 a0001c0001t0022g0126 a0001c0003t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0046 a0002c0002t0014g0031 a0003c0004t0001g0058 a0003c0004t0001g0059 a0003c0004t0001g0060 a0006c0009t0007g0166	47	168	0.2798	25	c.251 others(44): Show c.2510+4361_2510+4385dupTTGACTTGCCTTTGAAGAATTATCC	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	6/8			chr4	TogoVar
NR3C2_chr4_148073764_148447414	148363504	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0050 a0001c0001t0019g0050	1	106	0.0094	25	c.175 others(46): Show c.1757+71599_1757+71600insAAAAAAAAAAAAAAAAAAAAAAAA A	NR3C2	ENSG00000151623.15	transcript	ENST00000358102.8	protein_coding	2/8			chr4	TogoVar
NR5A1_chr9_124476236_124512399	124504051	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18906.hp1 HG02257.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0008 a0002c0002t0001 a0002c0002t0008	a0002c0002t0001g0007 a0002c0002t0008g0034 a0002c0002t0001g0007 a0002c0002t0008g0034	2	296	0.0068	25	c.-15 others(40): Show c.-15-642_-15-641insCTCTCTCTCTCTCTCTCTCTCTCTC	NR5A1	ENSG00000136931.10	transcript	ENST00000373588.9	protein_coding	1/6			chr9	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(18): Show AAAAAAAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp1 HG03831.hp2 HG03942.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0005 a0002c0006t0005	a0002c0006t0005g0059 a0002c0006t0005g0125 a0002c0006t0005g0059 a0002c0006t0005g0125	2	36	0.0556	25	c.-10 others(46): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTTTTT T	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108335434	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0084 a0002c0008t0003g0084	1	43	0.0233	25	c.-17 others(46): Show c.-173-22728_-173-22704dupAAAAAAAAAAAAAAAAAAAAAAAA A	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	2/32			chr7	TogoVar
NRF1_chr7_129606720_129762076	129754464	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	33	0.0303	25	c.134 others(42): Show c.1349-535_1349-534insAAAAAAAAAAAAAAAAAAAAAAAAA	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02622.hp1 HG01109.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0358 a0001c0003t0001g0015 a0001c0001t0001g0358 a0001c0003t0001g0015	2	77	0.0260	25	c.64 others(36): Show c.6499_*6500insAAAAAAAAAAAAAAAATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRF1_chr7_129606720_129762076	129761680	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01978.hp1 NA18972.hp1 HG00140.hp2 HG01978.hp1 NA18972.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0233 a0001c0002t0004g0256 a0001c0002t0004g0293 a0001c0002t0004g0233 a0001c0002t0004g0256 a0001c0002t0004g0293	3	78	0.0385	25	c.64 others(36): Show c.6499_*6500insAAAAAATATATATATATATATATAT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding		4605		chr7	TogoVar
NRG1_chr8_32543311_32779046	32582069	C C	CTATTTTA others(18): Show CTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00639.hp2 others(27): Show HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00733.hp2 HG01081.hp1 HG01169.hp2 HG01175.hp1 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02886.hp1 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03942.hp2 HG04228.hp2 NA18954.hp2 NA18967.hp1 NA19060.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0011 a0012	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0011c0013 a0012c0012	a0001c0001t0002 a0001c0001t0037 a0001c0001t0101 others(23): Show a0001c0001t0002 a0001c0001t0037 a0001c0001t0101 a0001c0001t0108 a0001c0001t0123 a0001c0001t0169 a0002c0002t0003 a0002c0002t0007 a0002c0002t0016 a0002c0002t0017 a0002c0002t0028 a0002c0002t0032 a0002c0002t0037 a0002c0002t0038 a0002c0002t0040 a0002c0002t0099 a0002c0002t0117 a0002c0002t0146 a0002c0002t0151 a0002c0002t0158 a0002c0002t0162 a0002c0002t0164 a0003c0003t0129 a0004c0004t0115 a0011c0013t0097 a0012c0012t0004	a0001c0001t0002g0243 a0001c0001t0037g0149 a0001c0001t0101g0087 others(27): Show a0001c0001t0002g0243 a0001c0001t0037g0149 a0001c0001t0101g0087 a0001c0001t0108g0181 a0001c0001t0123g0127 a0001c0001t0169g0128 a0002c0002t0003g0235 a0002c0002t0003g0236 a0002c0002t0007g0144 a0002c0002t0007g0147 a0002c0002t0007g0224 a0002c0002t0016g0163 a0002c0002t0017g0166 a0002c0002t0028g0177 a0002c0002t0032g0188 a0002c0002t0037g0168 a0002c0002t0038g0157 a0002c0002t0040g0129 a0002c0002t0040g0156 a0002c0002t0099g0092 a0002c0002t0117g0112 a0002c0002t0146g0148 a0002c0002t0151g0146 a0002c0002t0158g0162 a0002c0002t0162g0161 a0002c0002t0164g0239 a0003c0003t0129g0111 a0004c0004t0115g0238 a0011c0013t0097g0237 a0012c0012t0004g0104	30	45	0.6667	25	c.101 others(44): Show c.101-13757_101-13733dupATTTTATTTTATTTTATTTTATTTT	NRG1	ENSG00000157168.22	transcript	ENST00000405005.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
NRG3_chr10_81870194_82992178	82869567	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03195.hp2 HG02723.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0006 a0001c0001t0003 a0001c0002t0006	a0001c0001t0003g0004 a0001c0002t0006g0021 a0001c0001t0003g0004 a0001c0002t0006g0021	2	11	0.1818	25	c.105 others(44): Show c.1054+4164_1054+4188dupATTTTATTTTATTTTATTTTATTTT	NRG3	ENSG00000185737.13	transcript	ENST00000372141.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
NRM_chr6_30683049_30695984	30695475	T T	TTTTTTTT others(18): Show TTTTTTTTTTGGAGACAGAGTCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	442	0.0023	25	c.-45 others(36): Show c.-4502_-4501insGCACGACTCTGTCTCCAAAAAAAAA	NRM	ENSG00000137404.15	transcript	ENST00000376421.7	protein_coding		4492		chr6	TogoVar
NRXN1_chr2_49913503_51037132	50334192	A A	AATTTTAT others(18): Show AATTTTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0068 a0001c0001t0020g0068	1	44	0.0227	25	c.336 others(46): Show c.3365-97223_3365-97222insATATATATATATATATATATAAAA T	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	17/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683631	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0106 a0001c0002t0010g0106	1	113	0.0088	25	c.833 others(44): Show c.833-60017_833-60016insTTTTTTTTTTTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA20752.hp1 HG02027.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0019 a0001c0002t0005 a0001c0001t0019 a0001c0002t0005	a0001c0001t0019g0067 a0001c0002t0005g0086 a0001c0001t0019g0067 a0001c0002t0005g0086	2	8	0.2500	25	c.833 others(44): Show c.833-60032_833-60031insATATATATATTTTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN1_chr2_49913503_51037132	50683646	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp1 HG01952.hp2 others(1): Show HG01109.hp1 HG01261.hp1 HG01952.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0020 a0001c0001t0058 others(1): Show a0001c0001t0004 a0001c0001t0020 a0001c0001t0058 a0001c0001t0062	a0001c0001t0004g0014 a0001c0001t0020g0068 a0001c0001t0058g0074 others(1): Show a0001c0001t0004g0014 a0001c0001t0020g0068 a0001c0001t0058g0074 a0001c0001t0062g0071	4	10	0.4000	25	c.833 others(44): Show c.833-60032_833-60031insATATATATATATTTTTTTTTTTTTT	NRXN1	ENSG00000179915.25	transcript	ENST00000401669.7	protein_coding	5/22			chr2	TogoVar
NRXN3_chr14_78165373_79873291	78888392	C C	CCTTTTTT others(18): Show CCTTTTTTTTTTTATTTTTTATGTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0016 a0002c0005t0016	a0002c0005t0016g0022 a0002c0005t0016g0022	1	24	0.0417	25	c.227 others(46): Show c.2276-68850_2276-68849insCTTTTTTTTTTTATTTTTTATGTT T	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	10/20			chr14	TogoVar
NRXN3_chr14_78165373_79873291	79565343	G G	GTGTGTGT others(18): Show GTGTGTGTGTATATATATACACACAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0010 a0001c0007t0002g0010	1	20	0.0500	25	c.344 others(46): Show c.3444+97945_3444+97946insTGTGTATATATATACACACATTGT G	NRXN3	ENSG00000021645.20	transcript	ENST00000335750.7	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr14	TogoVar
NSD1_chr5_177128773_177305213	177158998	T T	TTATATAT others(18): Show TTATATATATATATATATGAATGATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp2 HG03130.hp1 others(2): Show HG02559.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 NA18522.hp1	a0001 a0013 a0001 a0013	a0001c0003 a0013c0025 a0001c0003 a0013c0025	a0001c0003t0016 a0001c0003t0027 a0013c0025t0028 a0001c0003t0016 a0001c0003t0027 a0013c0025t0028	a0001c0003t0016g0114 a0001c0003t0016g0117 a0001c0003t0016g0118 others(2): Show a0001c0003t0016g0114 a0001c0003t0016g0117 a0001c0003t0016g0118 a0001c0003t0027g0121 a0013c0025t0028g0115	5	58	0.0862	25	c.927 others(44): Show c.927+22985_927+22986insGAATGATATATATATATATATATAT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177199579	A A	ATTTTCTT others(18): Show ATTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG03195.hp2 others(2): Show HG02055.hp1 HG02451.hp2 HG03195.hp2 HG03486.hp1 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0005 a0001c0005t0006 a0001c0005t0038 others(1): Show a0001c0005t0005 a0001c0005t0006 a0001c0005t0038 a0001c0014t0002	a0001c0005t0005g0016 a0001c0005t0006g0021 a0001c0005t0006g0023 others(2): Show a0001c0005t0005g0016 a0001c0005t0006g0021 a0001c0005t0006g0023 a0001c0005t0038g0027 a0001c0014t0002g0013	5	245	0.0204	25	c.106 others(44): Show c.1064-4531_1064-4507dupCTTTTCTTTTCTTTTCTTTTCTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD1_chr5_177128773_177305213	177207593	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0113 a0001c0003t0007g0113	1	102	0.0098	25	c.123 others(44): Show c.1237-2038_1237-2014dupTTTTTTTTTTTTTTTTTTTTTTTTT	NSD1	ENSG00000165671.22	transcript	ENST00000439151.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
NSD2_chr4_1866393_1987192	1872631	A A	AGAGAGAG others(18): Show AGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0034 a0001c0001t0007g0034	1	123	0.0081	25	c.-30 others(42): Show c.-30+1094_-30+1095insAGAGAGAGAGAGAGAGAGAGGAGAG	NSD2	ENSG00000109685.19	transcript	ENST00000508803.6	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
NSG2_chr5_174040706_174114179	174080554	T T	TCTCTCTC others(18): Show TCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02976.hp1 HG02145.hp2 HG02257.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0032 a0001c0001t0003g0003 a0001c0001t0003g0032	3	291	0.0103	25	c.213 others(44): Show c.213+16239_213+16240insCTCTCTCTCTCTCTCTCTCTCTCTC	NSG2	ENSG00000170091.11	transcript	ENST00000303177.8	protein_coding	3/4			chr5	TogoVar
NSMCE2_chr8_125086860_125372120	125256922	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	64	0.0156	25	c.418 others(44): Show c.418+74679_418+74703dupAAAAAAAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125262096	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	165	0.0061	25	c.418 others(44): Show c.418+79847_418+79871dupAAATAAAATAAAATAAAATAAAATA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125333505	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	45	0.0222	25	c.419 others(44): Show c.419-23711_419-23687dupTTTTTTTTTTTTTTTTTTTTTTTTT	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
NSMCE2_chr8_125086860_125372120	125367509	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp2 NA19003.hp2 NA18961.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0191 a0001c0001t0001g0062 a0001c0001t0001g0191	2	16	0.1250	25	c.62 others(34): Show c.624_*625insAAAAAAAAAAAAAAAAAAAAAAAAA	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding		390		chr8	TogoVar
NSRP1_chr17_30111816_30191475	30122349	T T	TGTGTGTG others(18): Show TGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	265	0.0038	25	c.114 others(42): Show c.114+4176_114+4177insGTGTGTGTGTGTATATATATATATA	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6			chr17	TogoVar
NSRP1_chr17_30111816_30191475	30122386	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0143 a0001c0002t0001g0143	1	231	0.0043	25	c.114 others(42): Show c.114+4213_114+4214insATATATATATATATATATATATATA	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6			chr17	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	235	0.0043	25	c.754 others(40): Show c.754-454_754-453insAAAAAAAAAAAAAAATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19006.hp1 NA19068.hp2 NA18975.hp2 NA19006.hp1 NA19068.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0167 a0003c0003t0003g0001 a0003c0003t0003g0167	3	237	0.0127	25	c.754 others(40): Show c.754-454_754-453insAAAAAAAAAAATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN4_chr1_46335807_46370018	46360249	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0001 a0003c0003t0003g0001	1	235	0.0043	25	c.754 others(40): Show c.754-454_754-453insAAAAAAAAATATATATATATATATA	NSUN4	ENSG00000117481.11	transcript	ENST00000474844.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
NSUN6_chr10_18540561_18656587	18555906	A A	AGAATGGA others(18): Show AGAATGGAATGGAATGGAATGGAATG	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	88	0.0114	25	c.923 others(42): Show c.923-3960_923-3936dupCATTCCATTCCATTCCATTCCATTC	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	8/10			chr10	TogoVar
NSUN6_chr10_18540561_18656587	18600939	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	343	0.0058	25	c.658 others(42): Show c.658-4613_658-4612insATATATATATATATATATATATATA	NSUN6	ENSG00000241058.4	transcript	ENST00000377304.7	protein_coding	6/10			chr10	TogoVar

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