Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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view	regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
	ZNF783_chr7_149257196_149289988	149281926	G G	A A	stop_gained stop_gained	HIGH	NA19006.hp2 NA19006.hp2	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0001 a0011c0012t0001	a0011c0012t0001g0154 a0011c0012t0001g0154	1	408	0.0025	0	c.122 others(4): Show c.1224G>A	p.Trp others(4): Show p.Trp408*	ZNF783	ENSG00000204946.10	transcript	ENST00000434415.6	protein_coding	6/6	1362/4424	1224/1641	408/546			chr7	TogoVar
	ZNF787_chr19_56082366_56126295	56088414	G G	GC GC	frameshift_variant frameshift_variant	HIGH	HG02738.hp2 HG02895.hp2 HG03209.hp1 others(6): Show HG02738.hp2 HG02895.hp2 HG03209.hp1 NA18942.hp2 NA18960.hp2 NA18972.hp2 NA18987.hp2 NA18990.hp1 NA19006.hp2	a0005 a0010 a0012 others(2): Show a0005 a0010 a0012 a0013 a0014	a0005c0014 a0005c0026 a0005c0027 others(4): Show a0005c0014 a0005c0026 a0005c0027 a0010c0022 a0012c0017 a0013c0025 a0014c0021	a0005c0014t0002 a0005c0014t0004 a0005c0014t0083 others(6): Show a0005c0014t0002 a0005c0014t0004 a0005c0014t0083 a0005c0026t0019 a0005c0027t0001 a0010c0022t0066 a0012c0017t0077 a0013c0025t0001 a0014c0021t0035	a0005c0014t0002g0252 a0005c0014t0004g0153 a0005c0014t0083g0264 others(6): Show a0005c0014t0002g0252 a0005c0014t0004g0153 a0005c0014t0083g0264 a0005c0026t0019g0035 a0005c0027t0001g0094 a0010c0022t0066g0303 a0012c0017t0077g0346 a0013c0025t0001g0330 a0014c0021t0035g0342	9	408	0.0221	1	c.757 others(4): Show c.757dupG	p.Ala others(5): Show p.Ala253fs	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	3/3	891/1940	757/1149	253/382			chr19	TogoVar
	ZNF787_chr19_56082366_56126295	56088492	A A	AC AC	frameshift_variant frameshift_variant	HIGH	HG00735.hp1 HG01099.hp2 HG01243.hp1 others(19): Show HG00735.hp1 HG01099.hp2 HG01243.hp1 HG01257.hp2 HG01515.hp1 HG01884.hp1 HG01978.hp1 HG02109.hp1 HG02145.hp1 HG02258.hp1 HG02572.hp1 HG02738.hp2 HG02896.hp2 HG04204.hp2 NA18612.hp1 NA18975.hp2 NA18989.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp2 NA19080.hp1 NA19090.hp1	a0004 a0009 a0010 others(1): Show a0004 a0009 a0010 a0014	a0004c0004 a0004c0005 a0004c0019 others(4): Show a0004c0004 a0004c0005 a0004c0019 a0004c0020 a0009c0015 a0010c0022 a0014c0021	a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 others(15): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0004 a0004c0004t0005 a0004c0004t0006 a0004c0004t0007 a0004c0004t0008 a0004c0005t0014 a0004c0005t0020 a0004c0005t0022 a0004c0005t0034 a0004c0005t0040 a0004c0005t0067 a0004c0019t0075 a0004c0020t0029 a0009c0015t0002 a0010c0022t0066 a0014c0021t0035	a0004c0004t0001g0258 a0004c0004t0003g0197 a0004c0004t0003g0220 others(19): Show a0004c0004t0001g0258 a0004c0004t0003g0197 a0004c0004t0003g0220 a0004c0004t0004g0138 a0004c0004t0005g0136 a0004c0004t0006g0122 a0004c0004t0007g0161 a0004c0004t0008g0141 a0004c0004t0008g0142 a0004c0004t0008g0211 a0004c0005t0014g0039 a0004c0005t0020g0048 a0004c0005t0022g0291 a0004c0005t0034g0277 a0004c0005t0040g0056 a0004c0005t0067g0278 a0004c0019t0075g0087 a0004c0020t0029g0061 a0009c0015t0002g0331 a0009c0015t0002g0352 a0010c0022t0066g0303 a0014c0021t0035g0342	22	406	0.0542	1	c.679 others(4): Show c.679dupG	p.Val others(5): Show p.Val227fs	ZNF787	ENSG00000142409.6	transcript	ENST00000610935.2	protein_coding	3/3	813/1940	679/1149	227/382			chr19	TogoVar
	ZNF880_chr19_52364923_52390795	52383892	TA TA	T T	frameshift_variant frameshift_variant	HIGH	HG00140.hp2 HG00438.hp1 HG00438.hp2 others(146): Show HG00140.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0012 a0002c0013 others(6): Show a0002c0002 a0002c0012 a0002c0013 a0002c0014 a0002c0024 a0002c0025 a0002c0026 a0005c0006 a0005c0011	a0002c0002t0002 a0002c0012t0002 a0002c0013t0002 others(6): Show a0002c0002t0002 a0002c0012t0002 a0002c0013t0002 a0002c0014t0002 a0002c0024t0002 a0002c0025t0002 a0002c0026t0002 a0005c0006t0002 a0005c0011t0002	a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(77): Show a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0136 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0190 a0002c0002t0002g0202 a0002c0002t0002g0230 a0002c0012t0002g0041 a0002c0012t0002g0099 a0002c0013t0002g0042 a0002c0014t0002g0001 a0002c0024t0002g0082 a0002c0025t0002g0018 a0002c0026t0002g0186 a0005c0006t0002g0007 a0005c0006t0002g0061 a0005c0006t0002g0109 a0005c0006t0002g0122 a0005c0006t0002g0123 a0005c0006t0002g0219 a0005c0011t0002g0007	149	456	0.3268	-1	c.317 others(4): Show c.317delA	p.Asn others(5): Show p.Asn106fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	360/2258	317/1734	106/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
	ZNF880_chr19_52364923_52390795	52384797	A A	AACCTTAC others(460): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAACAAACAAACAAACAAA AAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACC TTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGT GACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAG AGTTCACACTGGAGAGAG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG00423.hp2 HG00438.hp2 HG00544.hp2 others(139): Show HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02015.hp2 HG02040.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp2 NA18945.hp1 NA18947.hp1 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp2 NA19005.hp1 NA19006.hp1 NA19007.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20752.hp1	a0002 a0005 a0011 others(1): Show a0002 a0005 a0011 a0013	a0002c0002 a0002c0014 a0005c0006 others(2): Show a0002c0002 a0002c0014 a0005c0006 a0011c0021 a0013c0018	a0002c0002t0002 a0002c0014t0002 a0005c0006t0002 others(2): Show a0002c0002t0002 a0002c0014t0002 a0005c0006t0002 a0011c0021t0002 a0013c0018t0002	a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 others(72): Show a0002c0002t0002g0001 a0002c0002t0002g0006 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0096 a0002c0002t0002g0098 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0136 a0002c0002t0002g0145 a0002c0002t0002g0146 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0184 a0002c0002t0002g0190 a0002c0002t0002g0202 a0002c0002t0002g0230 a0002c0014t0002g0001 a0005c0006t0002g0007 a0005c0006t0002g0061 a0005c0006t0002g0109 a0005c0006t0002g0122 a0005c0006t0002g0123 a0005c0006t0002g0219 a0011c0021t0002g0205 a0013c0018t0002g0179	142	424	0.3349	467	c.123 others(476): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAACAAACAAACAAACAAAAAAAAAC AAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCACA ACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGTG GCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCAC ACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Cys others(5): Show p.Cys413fs	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar