Joint Open Genome and Omics Platform (JoGo)

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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
	ZNF516_chr18_76352682_76500242	76393752	GGGTGGTC others(994): Show GGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTC AGGTGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGG TGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGGGGGAAGGC AGGTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGT GGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGAAGCCGGGAAGGCAGG TGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGGCAGGTGGT CAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGG TGGGGGGAGGGCAGGTAGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGG GGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAGGG CAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGG TGGTCAGGTGGGAAGCCGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGG GTGGTCAGGTGGGGGGAGGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGG TCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAG GTGGGGGGAAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGG GGGGAAGGCAGGTGGTCAGGTGGGGGGAAGGCAGGTGGTCAGGTGGGGGG AAGGCAGGTGGTCAGGTGGGGGCAGGGCGGGTGGTCAGGTGGGGGGAGGG CA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0022 a0001c0005t0029g0022	1	296	0.0034	-1001	c.181 others(21): Show c.1811-14450_1811-13450del		ZNF516	ENSG00000101493.11	transcript	ENST00000443185.7	protein_coding	3/6						chr18	TogoVar
	CPNE4_chr3_131528569_132040014	131989409	TGTAGGTG others(993): Show TGTAGGTGAGTAAACAGAGGCTTTAACTACAAATACATGTATTAAAAATT TCTTCTTGAGCAGTAACAATGGCCAAAGAATTGCGCAAGTTTGGGAACCT GTAAACCAAGAGTCCTACCCTCATGGTGCTGTATTCTACCAGGAAAACAG ATATGAGAAGAACCAAAGAAAATTCAAGATAGAATGAAATTAATGCTGAA AAGAGAGAGAAGCAACTTTTGTGAAAGCCAAAAGAATGACATATTTTCTC TCACTGGGAGACAAGAAAGCGCTTATTAAAACAATGTAATTTGAGGTGGT GATAGGTGAGGAATAAATCCAAATTTTACGGGTGGAGAAAGCATGTCCAG TCCAAGATAACACCATGTCAAAAATATCAAAAAGCAAAATTGCTTTCAGA TTTTGGGAAACACGTAGTAGTACAGTGAGAATAACGTTCTGGTGAGACCA GGGTGAGCAAGCTTATAACCAAGCATGAAGGGCCCAGAATTCTGGACTAA AGAGGCTTAAATGTAACGCATGGGCTCTGGGAAGCCATTGAAGGAAAGGC AGGAAGCTCCATTTGGAAGGGGAATGTTGCTGGACTATGGGCATAATGAA AATAATGGATTATTGTGAATTTGTAGCCAAAGCCCACATTCTCTTCAGGT GAATTGCAATGCCCATTGTTTCACTGGTAACTTTGTAAAACAGAAGAGAC ATTTAAAATAATGTATCTTCATTTATCATTTTGTGTGTCATACAAGTCTC TGTAAACTTATATGACCACATCTCCAAGATAGAAAGATTTATCTATATTT AATTCTCTAAAAGAAAAGATACAATCAGTAAGTTTAGTTTTACGAAAGAA TAATTTTCACTATCTAAATTATGATTGTGCAGGCTATAGGTTATTTTACT AAAAAATTATTGGTTCAAGGACTGAGTTGAGTTTTGAGTTCTAGCCAATT TTTTAGTGCCTAAGTCTAAACAACTATTGTTATGTAGAGGTGGAATAAAT G	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01071.hp2 others(16): Show HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG04199.hp2 HG04228.hp2 NA18939.hp2 NA18946.hp1 NA18946.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(16): Show a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0002g0085 a0001c0001t0003g0020 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0005g0073 a0001c0001t0005g0084 a0001c0001t0007g0002 a0001c0001t0009g0067 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0003g0063 a0001c0002t0009g0068 a0001c0003t0001g0019	19	92	0.2065	-1000	c.-2+ others(17): Show c.-2+44158_-2+45157del		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15						chr3	TogoVar
	DVL1_chr1_1330278_1354418	1350166	AGGAGCGA others(993): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC TGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG02717.hp2 HG03098.hp1 HG00642.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0037 a0001c0001t0001g0076	3	323	0.0093	-1000	c.-21 others(11): Show c.-2101_-1102del		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					749		chr1	TogoVar
	MXRA8_chr1_1347691_1363555	1350166	AGGAGCGA others(993): Show AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC TGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC AGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACG GGGGGAGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGA GGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCC TGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGC T	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02717.hp1 HG03098.hp2 HG00642.hp1 HG02717.hp1 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0014 a0001c0002t0005g0014	3	314	0.0096	-1000	c.24 others(11): Show c.2438_*3437del		MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding					2524		chr1	TogoVar
	OR9Q1_chr11_58018881_58186616	58051458	AGGGGAGG others(993): Show AGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACGAGTTAG TGGGTGCAGCGCACCAGCATGGCACATGTATATATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAAAAA AAGAAAAAAAGGAAAAAAAAAAAAAAAAGAAACTACCATCAGAGTGAACA AGCAACCTACAAAATGGGAGAAAATTTTCACAACCTACTCATCTGACAAA GGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTAGGAGAAAAA AACAAACAACCCCATCAAATAGTGGGCGAAGGACATGAACAGACACTTCT CAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCA TCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCT CACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCT GGAGAGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGT AAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCT AGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACC CAAATGACTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTT ATTGCGGCATTATTCACAATAGCAAAGACTTGGAACCAAATGTCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG G	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp1 HG03471.hp1 HG02965.hp1 HG03041.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0022 a0001c0001t0023 a0001c0001t0011 a0001c0001t0022 a0001c0001t0023	a0001c0001t0011g0159 a0001c0001t0022g0161 a0001c0001t0023g0163 a0001c0001t0011g0159 a0001c0001t0022g0161 a0001c0001t0023g0163	3	263	0.0114	-1000	c.-92 others(17): Show c.-92-4412_-92-3413del		OR9Q1	ENSG00000186509.4	transcript	ENST00000335397.3	protein_coding	1/2						chr11	TogoVar