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
PRTFDC1_chr10_24843614_24957606	24880813	C C	CTCTTTCT others(18): Show CTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18984.hp2 NA19002.hp1 others(2): Show NA18522.hp2 NA18984.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0138 a0001c0001t0004g0241 others(2): Show a0001c0001t0004g0111 a0001c0001t0004g0138 a0001c0001t0004g0241 a0001c0001t0004g0255 a0001c0001t0004g0288	5	96	0.0521	25	c.340 others(42): Show c.340-8775_340-8751dupAAAGAAAGAAAGAAAGAAAGAAAGA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTFDC1_chr10_24843614_24957606	24880813	C C	CTCTTTCT others(18): Show CTCTTTCTTTCTTTCTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19084.hp1 NA19056.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0102 a0001c0001t0004g0254 a0001c0001t0004g0102 a0001c0001t0004g0254	2	93	0.0215	25	c.340 others(42): Show c.340-8751_340-8750insAAGAAAAGAAAGAAAGAAAGAAAGA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01167.hp1 others(10): Show HG00140.hp1 HG01106.hp1 HG01167.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp2 HG02698.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp2 HG03710.hp1 NA18994.hp1 NA21309.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0008 a0007c0017 a0001c0001 a0001c0008 a0007c0017	a0001c0001t0002 a0001c0008t0037 a0007c0017t0002 a0001c0001t0002 a0001c0008t0037 a0007c0017t0002	a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0246 others(10): Show a0001c0001t0002g0241 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0253 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0008t0037g0208 a0001c0008t0037g0210 a0007c0017t0002g0254	13	59	0.2203	25	c.204 others(44): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55659927	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0001 a0012 a0001 a0012	a0001c0001 a0012c0019 a0001c0001 a0012c0019	a0001c0001t0032 a0012c0019t0046 a0001c0001t0032 a0012c0019t0046	a0001c0001t0032g0098 a0012c0019t0046g0003 a0001c0001t0032g0098 a0012c0019t0046g0003	2	6	0.3333	25	c.204 others(46): Show c.2041+12493_2041+12517dupGTTTTGTTTTGTTTTGTTTTGTTT T	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTN3_chr19_835999_853175	842413	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0116 a0002c0002t0001g0117 a0002c0002t0001g0116 a0002c0002t0001g0117	2	103	0.0194	25	c.62- others(40): Show c.62-1024_62-1023insTTTTTTTTTTTTTTTTTTTTTTTTT	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76714223	C C	CTGGGAGA others(18): Show CTGGGAGATTTTTAAAAGAGCTGTGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02257.hp2 NA18522.hp1 others(9): Show HG02071.hp1 HG02257.hp2 NA18522.hp1 NA18942.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18981.hp1 NA18989.hp1 NA19003.hp1 NA19007.hp2 NA19068.hp1	a0005 a0010 a0013 a0005 a0010 a0013	a0005c0007 a0005c0027 a0010c0013 others(1): Show a0005c0007 a0005c0027 a0010c0013 a0013c0017	a0005c0007t0001 a0005c0027t0003 a0010c0013t0001 others(3): Show a0005c0007t0001 a0005c0027t0003 a0010c0013t0001 a0010c0013t0002 a0013c0017t0005 a0013c0017t0009	a0005c0007t0001g0020 a0005c0007t0001g0036 a0005c0007t0001g0054 others(9): Show a0005c0007t0001g0020 a0005c0007t0001g0036 a0005c0007t0001g0054 a0005c0007t0001g0055 a0005c0007t0001g0076 a0005c0007t0001g0126 a0005c0027t0003g0212 a0010c0013t0001g0042 a0010c0013t0001g0068 a0010c0013t0002g0128 a0013c0017t0005g0010 a0013c0017t0009g0178	12	238	0.0504	25	c.757 others(40): Show c.757-527_757-503dupTCACAGCTCTTTTAAAAATCTCCCA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TATTTATT others(18): Show TATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02809.hp2 others(4): Show HG02258.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 NA18522.hp2	a0003 a0005 a0009 others(3): Show a0003 a0005 a0009 a0012 a0015 a0024	a0003c0003 a0003c0054 a0005c0009 others(4): Show a0003c0003 a0003c0054 a0005c0009 a0009c0010 a0012c0021 a0015c0016 a0024c0037	a0003c0003t0001 a0003c0054t0005 a0005c0009t0001 others(4): Show a0003c0003t0001 a0003c0054t0005 a0005c0009t0001 a0009c0010t0014 a0012c0021t0002 a0015c0016t0012 a0024c0037t0008	a0003c0003t0001g0096 a0003c0054t0005g0122 a0005c0009t0001g0183 others(4): Show a0003c0003t0001g0096 a0003c0054t0005g0122 a0005c0009t0001g0183 a0009c0010t0014g0123 a0012c0021t0002g0172 a0015c0016t0012g0001 a0024c0037t0008g0008	7	124	0.0565	25	c.756 others(44): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAATAAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CATATATA others(18): Show CATATATATATATAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0156 a0001c0001t0042g0156	1	26	0.0385	25	c.-18 others(36): Show c.-1889_-1888insATATATATATATAATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(18): Show CTTATATATCATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG01981.hp2 others(3): Show HG00140.hp1 HG01358.hp2 HG01981.hp2 HG01993.hp2 HG02735.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0066 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0066	6	31	0.1935	25	c.-18 others(36): Show c.-1889_-1888insTTATATATCATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406789	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	296	0.0034	25	c.-18 others(36): Show c.-1857_-1856insATATATATATATATATATATATATA	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1761		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406790	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02056.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0136 a0001c0001t0020g0004 a0001c0001t0001g0136 a0001c0001t0020g0004	2	293	0.0068	25	c.-18 others(36): Show c.-1856_-1855insTATATATATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1760		chr10	TogoVar
PRX_chr19_40388768_40418378	40418190	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0043 a0003c0003t0001g0043	1	186	0.0054	25	c.-50 others(36): Show c.-5096_-5095insGAAAAGAAAAGAAAAGAAAAGAAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding		4813		chr19	TogoVar
PSD3_chr8_18522303_19018703	18755429	C C	CAACATAA others(18): Show CAACATAACATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0039 a0001c0002t0010g0039	1	48	0.0208	25	c.217 others(45): Show c.2172+9995_2172+10019dupATGTTATGTTATGTTATGTTATGTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184116	A A	AGTAGGAG others(18): Show AGTAGGAGCGGCCGGGCAGAGGCGCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0358 a0001c0001t0002g0358	1	376	0.0027	25	c.481 others(42): Show c.481-2737_481-2736insGTAGGAGCGGCCGGGCAGAGGCGCC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11			chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp1 HG04204.hp2 others(11): Show HG02683.hp2 HG03688.hp1 HG04204.hp2 NA18747.hp2 NA18943.hp2 NA18949.hp2 NA18950.hp2 NA18960.hp1 NA18991.hp1 NA19001.hp2 NA19009.hp2 NA19060.hp2 NA19062.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0011 a0001c0001t0001g0039 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0006g0120	14	78	0.1795	25	c.430 others(42): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	136	0.0074	25	c.430 others(42): Show c.430+2096_430+2097insAAATATATATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	136	0.0074	25	c.430 others(42): Show c.430+2096_430+2097insAAAAAAAAAAATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	136	0.0074	25	c.430 others(42): Show c.430+2096_430+2097insAAAAAAAAAAAAAAATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933308	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0079 a0002c0003t0003g0079	1	336	0.0030	25	c.430 others(42): Show c.430+2095_430+2096insTATATATATATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	184	0.0054	25	c.285 others(42): Show c.285+2677_285+2678insATATATATATATATATTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640052	G G	GTACTATA others(18): Show GTACTATACTATACTATACTATACTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	74	0.0135	25	c.91+ others(40): Show c.91+1289_91+1290insTAGTATAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(18): Show ATACTATACTATACTATACTGTACTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02083.hp1 HG02135.hp1 others(5): Show HG00423.hp2 HG02083.hp1 HG02135.hp1 HG02451.hp2 NA18992.hp1 NA18995.hp2 NA19009.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021	a0001c0001t0008g0222 a0001c0001t0008g0224 a0001c0001t0008g0226 others(5): Show a0001c0001t0008g0222 a0001c0001t0008g0224 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0228 a0001c0001t0018g0223 a0001c0001t0018g0225 a0001c0001t0021g0029	8	285	0.0281	25	c.91+ others(40): Show c.91+1254_91+1255insCAGTACAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(18): Show ATACTATACTATACTGTACTGTACTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0216 a0001c0001t0034g0216	1	278	0.0036	25	c.91+ others(40): Show c.91+1254_91+1255insCAGTACAGTACAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMD13_chr11_231976_257984	234403	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0075 a0001c0001t0002g0076	2	93	0.0215	25	c.-26 others(36): Show c.-2647_-2646insTTTTGTTTTGTTTTGTTTTGTTTTG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		2572		chr11	TogoVar
PSMD13_chr11_231976_257984	249547	A A	AGGGGGAG others(18): Show AGGGGGAGAGCGGCGGGTGCGGGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	445	0.0022	25	c.774 others(40): Show c.774+495_774+519dupGAGAGCGGCGGGTGCGGGGAGGGGG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04115.hp2 HG03209.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0248 a0001c0001t0001g0015 a0001c0001t0001g0248	2	20	0.1000	25	c.49- others(42): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(18): Show GTTGTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18988.hp1 HG03130.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0128 a0001c0001t0002g0039 a0001c0001t0001g0128 a0001c0001t0002g0039	2	36	0.0556	25	c.571 others(42): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(18): Show GTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18950.hp2 NA19057.hp2 others(1): Show HG02074.hp2 NA18950.hp2 NA19057.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0080 a0001c0001t0002g0086 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0080 a0001c0001t0002g0086 a0001c0001t0002g0101	4	38	0.1053	25	c.571 others(42): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD3_chr17_39975807_40002959	39992024	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01192.hp1 others(17): Show HG00733.hp1 HG00741.hp1 HG01192.hp1 HG01192.hp2 HG01891.hp2 HG01978.hp2 HG03098.hp2 HG03669.hp2 HG03688.hp2 NA18522.hp2 NA18946.hp2 NA18965.hp2 NA18966.hp1 NA18999.hp1 NA19004.hp2 NA19011.hp1 NA19067.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0012t0002 a0001c0001t0002 a0001c0012t0002	a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0038 others(11): Show a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0187 a0001c0012t0002g0058	20	268	0.0746	25	c.981 others(42): Show c.981+1836_981+1837insAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG04184.hp2 HG04204.hp1 HG01934.hp2 HG04184.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0084 a0001c0001t0001g0017 a0001c0001t0001g0084	3	42	0.0714	25	c.-35 others(36): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(18): Show TGTGTGTGTGCGCGCGCCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	352	0.0028	25	c.703 others(40): Show c.703-169_703-168insTGCGCGCGCCGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(18): Show TGTGTGTGTGCGCGCGCGGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	352	0.0028	25	c.703 others(40): Show c.703-169_703-168insTGCGCGCGCGGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38385765	A A	AGCCGGGG others(18): Show AGCCGGGGATGGGGCCGGGGCCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	335	0.0030	25	c.23 others(36): Show c.2375_*2376insGCCGGGGATGGGGCCGGGGCCGGGG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding		1942		chr19	TogoVar
PSME3IP1_chr16_57147466_57191039	57149838	C C	CTTGTCTA others(18): Show CTTGTCTAAACTCTTGTCTAAAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03209.hp1 HG02258.hp2 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0183 a0001c0001t0001g0034 a0001c0001t0001g0183	3	361	0.0083	25	c.44 others(36): Show c.4451_*4452insACTCTTTAGACAAGAGTTTAGACAA	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding		2627		chr16	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02129.hp1 HG00408.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0329 a0001c0005t0001g0373 a0001c0005t0001g0329 a0001c0005t0001g0373	2	71	0.0282	25	c.481 others(42): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp1 NA18995.hp1 HG02015.hp2 HG02132.hp1 NA18995.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0248 a0003c0004t0001g0298 a0003c0004t0001g0300 a0003c0004t0001g0248 a0003c0004t0001g0298 a0003c0004t0001g0300	3	35	0.0857	25	c.958 others(40): Show c.958-640_958-616dupTTTTTTTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0110 a0001c0001t0003g0110	1	150	0.0067	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATATATATATT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	150	0.0067	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATATTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02165.hp1 HG02922.hp2 others(1): Show HG02071.hp2 HG02165.hp1 HG02922.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0001t0001 a0001c0001t0004 a0001c0001t0011	a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0004g0077 others(1): Show a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0004g0077 a0001c0001t0011g0075	4	153	0.0261	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0085 a0001c0001t0019g0085	1	150	0.0067	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATTTTTTTTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133570	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0108 a0001c0001t0003g0108	1	301	0.0033	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATATATATATA	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6			chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	81	0.0123	25	c.174 others(42): Show c.174+1096_174+1097insATATATATATATATATATATATTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PSMG4_chr6_3253947_3273049	3260292	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	403	0.0025	25	c.174 others(42): Show c.174+1096_174+1097insATATATATATATATATATATATATA	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2			chr6	TogoVar
PSTK_chr10_122975401_122995390	122980723	C C	CGCGGGGC others(18): Show CGCGGGGCGGGGCGGGGCGGGGCGGG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02273.hp1 HG02647.hp2 others(10): Show HG01081.hp2 HG02273.hp1 HG02647.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 NA18969.hp2 NA18972.hp2 NA18978.hp2 NA18979.hp2 NA19056.hp1 NA19066.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0005 others(1): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0003c0003t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0002c0002t0001g0133 others(4): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0002c0002t0001g0133 a0002c0005t0001g0138 a0003c0003t0001g0010 a0003c0003t0001g0134 a0003c0003t0001g0135	13	214	0.0607	25	c.216 others(38): Show c.216+40_216+64dupCGGGGCGGGGCGGGGCGGGGCGGGG	PSTK	ENSG00000179988.15	transcript	ENST00000406217.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02922.hp2 HG01517.hp1 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0299 a0001c0002t0001g0307 a0001c0002t0001g0299 a0001c0002t0001g0307	2	98	0.0204	25	c.905 others(42): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp1 HG01934.hp1 others(11): Show HG00738.hp1 HG01261.hp1 HG01934.hp1 HG04115.hp2 HG04199.hp1 NA18942.hp2 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp1 NA18968.hp2 NA19000.hp2 NA19064.hp2 NA19083.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0019 a0003c0003t0002 a0001c0001t0002 a0001c0001t0019 a0003c0003t0002	a0001c0001t0002g0101 a0001c0001t0002g0121 a0001c0001t0002g0124 others(11): Show a0001c0001t0002g0101 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0133 a0001c0001t0002g0158 a0001c0001t0002g0191 a0001c0001t0002g0218 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0297 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0019g0132 a0003c0003t0002g0103	14	71	0.1972	25	c.802 others(42): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112302582	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0335 a0001c0001t0012g0335	1	32	0.0313	25	c.-51 others(42): Show c.-51-4667_-51-4666insAAAAAAAAAAAAAAAAAAAAAAAAA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 NA18956.hp1 NA19011.hp2 HG03239.hp2 NA18956.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0016g0088 a0001c0001t0001g0089 a0001c0001t0001g0098 a0001c0001t0016g0088	3	217	0.0138	25	c.-52 others(44): Show c.-52+13155_-52+13156insAAAAATATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0240 a0004c0007t0008g0240	1	180	0.0056	25	c.-20 others(36): Show c.-2010_-2009insATATATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0013 a0013	a0013c0026 a0013c0026	a0013c0026t0005 a0013c0026t0005	a0013c0026t0005g0056 a0013c0026t0005g0056	1	180	0.0056	25	c.-20 others(36): Show c.-2010_-2009insAAAAATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar

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