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
	ZP4_chr1_237877404_237895922	237884003	CACACACA others(43): Show CACACACACACACAAACACACACACACACAAACACACACAAACACACACA A	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02970.hp1 HG02809.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	2	448	0.0045	-50	c.139 others(67): Show c.1390+716_1390+765delTTGTGTGTGTTTGTGTGTGTTTGTGTGT GTGTGTGTTTGTGTGTGTGTGT		ZP4	ENSG00000116996.10	transcript	ENST00000366570.5	protein_coding	10/11						chr1	TogoVar
	ZPBP_chr7_49932441_50098246	49982047	GATTATAT others(43): Show GATTATATAATTATATGAATTATATAATTATATAATTATATGAATTATAT A	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG06807.hp1 HG02922.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0224 a0001c0001t0001g0061 a0001c0001t0001g0224	2	278	0.0072	-50	c.961 others(67): Show c.961+1245_961+1294delTATATAATTCATATAATTATATAATTAT ATAATTCATATAATTATATAAT		ZPBP	ENSG00000042813.8	transcript	ENST00000046087.7	protein_coding	7/7						chr7	TogoVar
	ZRANB3_chr2_135191969_135536218	135493098	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00741.hp2 HG01346.hp1 others(40): Show HG00408.hp1 HG00741.hp2 HG01346.hp1 HG01928.hp1 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02056.hp1 HG02080.hp1 HG02132.hp2 HG02165.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18941.hp2 NA18959.hp1 NA18969.hp1 NA18972.hp1 NA18979.hp1 NA18982.hp1 NA18986.hp1 NA18992.hp2 NA18993.hp1 NA19001.hp2 NA19007.hp2 NA19058.hp2 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0007 a0008	a0001c0005 a0002c0002 a0002c0007 others(4): Show a0001c0005 a0002c0002 a0002c0007 a0003c0004 a0004c0006 a0007c0014 a0008c0011	a0001c0005t0004 a0002c0002t0002 a0002c0007t0026 others(6): Show a0001c0005t0004 a0002c0002t0002 a0002c0007t0026 a0003c0004t0002 a0003c0004t0010 a0003c0004t0012 a0004c0006t0002 a0007c0014t0002 a0008c0011t0002	a0001c0005t0004g0093 a0002c0002t0002g0006 a0002c0002t0002g0020 others(40): Show a0001c0005t0004g0093 a0002c0002t0002g0006 a0002c0002t0002g0020 a0002c0002t0002g0043 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0007t0026g0004 a0003c0004t0002g0007 a0003c0004t0002g0008 a0003c0004t0002g0037 a0003c0004t0002g0039 a0003c0004t0002g0040 a0003c0004t0002g0041 a0003c0004t0002g0042 a0003c0004t0002g0044 a0003c0004t0002g0045 a0003c0004t0002g0046 a0003c0004t0002g0047 a0003c0004t0002g0048 a0003c0004t0002g0051 a0003c0004t0002g0052 a0003c0004t0002g0053 a0003c0004t0010g0050 a0003c0004t0010g0054 a0003c0004t0010g0055 a0003c0004t0012g0001 a0003c0004t0012g0002 a0004c0006t0002g0011 a0004c0006t0002g0013 a0004c0006t0002g0014 a0004c0006t0002g0025 a0004c0006t0002g0027 a0004c0006t0002g0028 a0004c0006t0002g0029 a0004c0006t0002g0030 a0004c0006t0002g0031 a0004c0006t0002g0032 a0004c0006t0002g0033 a0004c0006t0002g0034 a0004c0006t0002g0109 a0007c0014t0002g0012 a0008c0011t0002g0035	43	214	0.2009	-50	c.161 others(69): Show c.161+11181_161+11230delATATATATATATATATATATATATAT ATATATATATATATATATATATAT		ZRANB3	ENSG00000121988.18	transcript	ENST00000264159.11	protein_coding	2/20						chr2	TogoVar
	ZSCAN26_chr6_28262143_28283204	28282248	TTCTTGAA others(43): Show TTCTTGAAAGCAGGAACCAAGTCTTTTATTCCAGAGTTAACTTTATGCCT G	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0003	1	424	0.0024	-50	c.51 others(61): Show c.5153_*5202delTCTTGAAAGCAGGAACCAAGTCTTTTATTCCAGA GTTAACTTTATGCCTG		ZSCAN26	ENSG00000197062.12	transcript	ENST00000421553.7	protein_coding					4045		chr6	TogoVar
	ZSWIM7_chr17_15971560_16004704	15979621	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCGGAGGACTGA C	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02895.hp2 others(2): Show HG02615.hp2 HG02630.hp2 HG02895.hp2 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0177 a0001c0001t0004g0179 others(1): Show a0001c0001t0004g0025 a0001c0001t0004g0177 a0001c0001t0004g0179 a0001c0001t0004g0183	5	344	0.0145	-50	c.306 others(67): Show c.306+1369_306+1418delGTCAGTCCTCCGCCCAGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGG		ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4						chr17	TogoVar
	ZSWIM7_chr17_15971560_16004704	15979643	CGGGGCGG others(43): Show CGGGGCGGCTGGCTGGGCGGAGGACTGACCCCCCCCACCTCCCTCCCGAA T	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp1 HG01123.hp1 others(6): Show HG00323.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG02148.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0180 a0001c0001t0004g0181 others(6): Show a0001c0001t0004g0130 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0185 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0188 a0001c0001t0004g0191	9	344	0.0262	-50	c.306 others(67): Show c.306+1347_306+1396delATTCGGGAGGGAGGTGGGGGGGGTCAGT CCTCCGCCCAGCCAGCCGCCCC		ZSWIM7	ENSG00000214941.8	transcript	ENST00000399277.6	protein_coding	4/4						chr17	TogoVar
	ZYG11B_chr1_52721453_52832336	52803073	TATATATA others(43): Show TATATATATATACACATATATATATACATATATATATATATATATACACA C	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02922.hp1 HG03704.hp1 others(1): Show HG02622.hp2 HG02922.hp1 HG03704.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0148 a0001c0001t0005g0212 a0001c0001t0005g0213 others(1): Show a0001c0001t0001g0148 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0221	4	352	0.0114	-50	c.169 others(67): Show c.1695+950_1695+999delTATATATATACATATATATATATATATA TACACACATATATATATACACA		ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
	ZYG11B_chr1_52721453_52832336	52803089	TATATATA others(43): Show TATATATATACATATATATATATATATATACACACATATATATATACACA C	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00544.hp2 others(57): Show HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01071.hp1 HG01255.hp1 HG01358.hp1 HG01928.hp2 HG01975.hp1 HG01978.hp2 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02886.hp1 HG03471.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18956.hp2 NA18960.hp1 NA18963.hp1 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18978.hp2 NA18979.hp2 NA18982.hp2 NA18990.hp2 NA18991.hp2 NA18995.hp2 NA19001.hp2 NA19002.hp2 NA19007.hp1 NA19010.hp2 NA19054.hp1 NA19058.hp1 NA19065.hp1 NA19070.hp2 NA19078.hp1 NA19080.hp1 NA19081.hp2 NA19084.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 others(11): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0017 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0005t0005	a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 others(57): Show a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0005g0047 a0001c0001t0005g0190 a0001c0001t0005g0199 a0001c0001t0017g0292 a0001c0001t0017g0303 a0001c0001t0017g0321 a0001c0001t0039g0333 a0001c0001t0042g0306 a0001c0001t0043g0309 a0001c0001t0046g0285 a0001c0001t0047g0271 a0001c0001t0049g0305 a0001c0001t0050g0313 a0001c0001t0051g0284 a0001c0001t0052g0318 a0001c0001t0054g0192 a0001c0005t0005g0343	60	352	0.1705	-50	c.169 others(68): Show c.1695+960_1695+1009delCATATATATATATATATATACACACAT ATATATATACACACATATATATA		ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
	ZYG11B_chr1_52721453_52832336	52803199	TATATACA others(43): Show TATATACACACACATATATATATATACACACATATATATATACACACACA C	T T	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02135.hp1 NA18974.hp2 others(7): Show HG00597.hp1 HG02135.hp1 NA18974.hp2 NA18975.hp1 NA18981.hp1 NA19000.hp2 NA19010.hp1 NA19056.hp2 NA19080.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 others(7): Show a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0161 a0001c0001t0018g0079	10	352	0.0284	-50	c.169 others(69): Show c.1695+1066_1695+1115delCACACACATATATATATATACACACA TATATATATACACACACACATATA		ZYG11B	ENSG00000162378.13	transcript	ENST00000294353.7	protein_coding	10/13					INFO_REALIGN_3_PRIME	chr1	TogoVar