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
	ZNF80_chr3_114229631_114242578	114236340	A A	C C	stop_gained stop_gained	HIGH	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp2 HG01981.hp2 HG02015.hp1 HG02145.hp1 HG02273.hp1 HG02293.hp2 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 HG02809.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18949.hp1 NA18949.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18972.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp1 NA18998.hp2 NA18999.hp2 NA19009.hp1 NA19011.hp2 NA19057.hp2 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19081.hp1 NA19088.hp2 NA20805.hp2 NA21309.hp1	a0003 a0010 a0003 a0010	a0003c0003 a0010c0009 a0003c0003 a0010c0009	a0003c0003t0003 a0003c0003t0007 a0003c0003t0014 others(4): Show a0003c0003t0003 a0003c0003t0007 a0003c0003t0014 a0003c0003t0015 a0003c0003t0021 a0003c0003t0023 a0010c0009t0003	a0003c0003t0003g0000 a0003c0003t0007g0000 a0003c0003t0014g0000 others(4): Show a0003c0003t0003g0000 a0003c0003t0007g0000 a0003c0003t0014g0000 a0003c0003t0015g0000 a0003c0003t0021g0000 a0003c0003t0023g0000 a0010c0009t0003g0000	67	424	0.1580	0	c.735 others(3): Show c.735T>G	p.Tyr others(4): Show p.Tyr245*	ZNF80	ENSG00000174255.8	transcript	ENST00000482457.4	protein_coding	1/1	1239/2948	735/822	245/273			chr3	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(461): Show AACCTTACAAATGTAATGAATTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAACAAACAAACAAACAA AAAAAAACAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACAC CTTGCACAACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAG TGACTGTGGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAA GAGTTCACACTGGAGAGAG	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG02922.hp1 NA18972.hp2 HG02922.hp1 NA18972.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0041 a0002c0012t0002g0099 a0002c0012t0002g0041 a0002c0012t0002g0099	2	284	0.0070	468	c.123 others(477): Show c.1237_1238insTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCATCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAACAAACAAACAAACAAAAAAAAA CAAATGTAATGAATGTGGCAAAGTCTTCAGTTACAATTCACACCTTGCAC AACATCAGAGAATACATACTGGAGAGAAACCTTACAAATGCAGTGACTGT GGCAAGGTATTTAGTCGACTTCCGTGCCTTACACGACATCAAAGAGTTCA CACTGGAGAGAGACCTTACAAATGTAATGAAT	p.Glu others(481): Show p.Glu412_Cys413insPheGlyArgProArgArgValAspHisGluVa lArgArgSerArgProSerTrpLeuThrArgTerAsnProIleSerThrL ysAsnThrLysAsnTerProGlyAlaValAlaGlyAlaCysSerProSer TyrSerGlyGlyTerGlyArgArgMetAlaTerThrArgGluAlaGluLe uAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaT hrGluArgAspSerValSerLysLysLysLysThrAsnLysGlnThrLys LysAsnLysCysAsnGluCysGlyLysValPheSerTyrAsnSerHisLe uAlaGlnHisGlnArgIleHisThrGlyGluLysProTyrLysCysSerA spCysGlyLysValPheSerArgLeuProCysLeuThrArgHisGlnArg ValHisThrGlyGluArgProTyrLysCysAsnGlu	ZNF880	ENSG00000221923.9	transcript	ENST00000422689.3	protein_coding	4/4	1281/2258	1238/1734	413/577		INFO_REALIGN_3_PRIME	chr19	TogoVar
	ZNG1E_chr9_65670928_65739041	65731675	G G	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show HG00423.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02683.hp2 HG02896.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18949.hp1 NA18954.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18984.hp2 NA18987.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19068.hp2 NA19075.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0010 a0002c0002 a0007c0010	a0002c0002t0002 a0002c0002t0006 a0007c0010t0002 a0002c0002t0002 a0002c0002t0006 a0007c0010t0002	a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 others(52): Show a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0073 a0002c0002t0006g0043 a0007c0010t0002g0015	56	202	0.2772	0	c.862 others(3): Show c.862G>T	p.Glu others(4): Show p.Glu288*	ZNG1E	ENSG00000147996.17	transcript	ENST00000382405.8	protein_coding	12/15	911/1662	862/1188	288/395			chr9	TogoVar
	ZNG1E_chr9_65670928_65739041	65733107	C C	T T	stop_gained stop_gained	HIGH	HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show HG00423.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp1 HG02683.hp2 HG02896.hp1 HG03017.hp1 HG03041.hp1 HG03491.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18949.hp1 NA18954.hp2 NA18961.hp1 NA18963.hp1 NA18965.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18984.hp2 NA18987.hp1 NA18993.hp1 NA18998.hp2 NA18999.hp1 NA19005.hp1 NA19007.hp1 NA19068.hp2 NA19075.hp2 NA19083.hp1 NA19088.hp2 NA19091.hp2 NA20805.hp2 NA21309.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0010 a0002c0002 a0007c0010	a0002c0002t0002 a0002c0002t0006 a0007c0010t0002 a0002c0002t0002 a0002c0002t0006 a0007c0010t0002	a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 others(52): Show a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0073 a0002c0002t0006g0043 a0007c0010t0002g0015	56	202	0.2772	0	c.106 others(4): Show c.1066C>T	p.Arg others(4): Show p.Arg356*	ZNG1E	ENSG00000147996.17	transcript	ENST00000382405.8	protein_coding	14/15	1115/1662	1066/1188	356/395			chr9	TogoVar