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
PSD2_chr5_139790808_139849466	139830626	C C	CTCTTTCT others(13): Show CTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG02602.hp2 others(2): Show HG00639.hp1 HG00735.hp1 HG02602.hp2 HG03098.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0056 a0001c0001t0002g0060 a0001c0001t0002g0100 others(2): Show a0001c0001t0001g0056 a0001c0001t0002g0060 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0004g0236	5	276	0.0181	20	c.127 others(39): Show c.1270-3064_1270-3045dupTTCTTTCTTTCTTTCTTTCT	PSD2	ENSG00000146005.4	transcript	ENST00000274710.4	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
PSD3_chr8_18522303_19018703	18594194	A A	ATATTATA others(13): Show ATATTATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02083.hp1 HG03834.hp1 others(3): Show HG01496.hp2 HG02083.hp1 HG03834.hp1 NA18960.hp1 NA18964.hp2 NA18981.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0013 a0002c0005 others(2): Show a0001c0002 a0001c0013 a0002c0005 a0002c0007 a0002c0033	a0001c0002t0001 a0001c0013t0001 a0002c0005t0016 others(2): Show a0001c0002t0001 a0001c0013t0001 a0002c0005t0016 a0002c0007t0031 a0002c0033t0016	a0001c0002t0001g0062 a0001c0013t0001g0007 a0002c0005t0016g0051 others(3): Show a0001c0002t0001g0062 a0001c0013t0001g0007 a0002c0005t0016g0051 a0002c0005t0016g0144 a0002c0007t0031g0001 a0002c0033t0016g0053	6	228	0.0263	20	c.248 others(39): Show c.2481+6169_2481+6170insATAATATATATTATATAATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18755429	C C	CAAAATAA others(13): Show CAAAATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02273.hp2 HG02559.hp1 HG01891.hp1 HG02273.hp2 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0017 a0001c0001 a0001c0002 a0001c0017	a0001c0001t0019 a0001c0002t0019 a0001c0017t0005 a0001c0001t0019 a0001c0002t0019 a0001c0017t0005	a0001c0001t0019g0186 a0001c0002t0019g0182 a0001c0017t0005g0011 a0001c0001t0019g0186 a0001c0002t0019g0182 a0001c0017t0005g0011	3	228	0.0132	20	c.217 others(41): Show c.2172+10019_2172+10020insATGTTATGTTATGTTATTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18755429	C C	CAACATAA others(13): Show CAACATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02109.hp1 HG02970.hp1 others(3): Show HG01106.hp2 HG02109.hp1 HG02970.hp1 HG03490.hp1 NA18959.hp2 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0007 a0002c0011	a0001c0001t0065 a0001c0002t0001 a0002c0003t0044 others(3): Show a0001c0001t0065 a0001c0002t0001 a0002c0003t0044 a0002c0005t0070 a0002c0007t0027 a0002c0011t0036	a0001c0001t0065g0017 a0001c0002t0001g0032 a0002c0003t0044g0119 others(3): Show a0001c0001t0065g0017 a0001c0002t0001g0032 a0002c0003t0044g0119 a0002c0005t0070g0073 a0002c0007t0027g0168 a0002c0011t0036g0160	6	228	0.0263	20	c.217 others(41): Show c.2172+10000_2172+10019dupATGTTATGTTATGTTATGTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18803389	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA20752.hp2 NA18998.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0054 a0003c0004t0041 a0001c0001t0054 a0003c0004t0041	a0001c0001t0054g0083 a0003c0004t0041g0123 a0001c0001t0054g0083 a0003c0004t0041g0123	2	228	0.0088	20	c.191 others(39): Show c.1910+1113_1910+1132dupCACACACACACACACACACA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	6/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18821684	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0040	a0002c0003t0040g0080 a0002c0003t0040g0080	1	228	0.0044	20	c.163 others(41): Show c.1635-16806_1635-16787dupGTGTGTGTGTGTGTGTGTGT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSD_chr10_102397619_102423785	102398784	T T	TCTCCCAG others(13): Show TCTCCCAGCCCTTCGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0150 a0001c0002t0005g0150	1	388	0.0026	20	c.43 others(31): Show c.4396_*4415dupCACCCCCGAAGGGCTGGGAG	PSD	ENSG00000059915.17	transcript	ENST00000020673.6	protein_coding		3834		chr10	TogoVar
PSEN1_chr14_73131507_73228691	73202462	A A	ATATATAT others(13): Show ATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0295 a0001c0001t0004g0295	1	378	0.0027	20	c.869 others(37): Show c.869-3923_869-3922insATATATATATATATATTTTT	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG1_chr19_42861464_42884713	42878406	A A	AACACACA others(13): Show AACACACACACATACAAACAC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0028 a0028	a0028c0021 a0028c0021	a0028c0021t0001 a0028c0021t0001	a0028c0021t0001g0065 a0028c0021t0001g0065	1	408	0.0025	20	c.65- others(33): Show c.65-129_65-128insGTGTTTGTATGTGTGTGTGT	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding	1/5			chr19	TogoVar
PSG1_chr19_42861464_42884713	42879901	G G	GACACACA others(13): Show GACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	408	0.0025	20	c.-32 others(29): Show c.-321_-320insGTGTGTGTGTGTGTGTGTGT	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding		189		chr19	TogoVar
PSG2_chr19_43059209_43087701	43082880	G G	GACACACA others(13): Show GACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA19083.hp2 NA18997.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0217 a0001c0001t0001g0003 a0001c0001t0001g0217	2	424	0.0047	20	c.-33 others(29): Show c.-331_-312dupGTGTGTGTGTGTGTGTGTGT	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding		180		chr19	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(13): Show ATTTTTTTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0107 a0002c0002t0003g0107	1	430	0.0023	20	c.430 others(37): Show c.430+2076_430+2077insAAAAAAAAAAAAGAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02040.hp1 HG02698.hp1 others(18): Show HG01243.hp1 HG02040.hp1 HG02698.hp1 HG03453.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp2 NA18945.hp1 NA18954.hp1 NA18956.hp1 NA18963.hp2 NA18967.hp2 NA18977.hp1 NA18981.hp2 NA18990.hp2 NA19000.hp1 NA19001.hp1 NA19005.hp2 NA19088.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0001g0113 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0007g0207	21	430	0.0488	20	c.430 others(37): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG6_chr19_42897086_42922894	42918104	G G	GACACACA others(13): Show GACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA19078.hp1 NA18983.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0175 a0002c0002t0001g0045 a0002c0002t0001g0175	2	414	0.0048	20	c.-33 others(29): Show c.-332_-313dupGTGTGTGTGTGTGTGTGTGT	PSG6	ENSG00000170848.16	transcript	ENST00000187910.7	protein_coding		211		chr19	TogoVar
PSG7_chr19_42919132_42942207	42933266	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	416	0.0024	20	c.430 others(37): Show c.430+2118_430+2137dupATATATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(13): Show ATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp1 NA18986.hp1 HG04184.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0292 a0001c0001t0001g0178 a0001c0001t0001g0292	2	416	0.0048	20	c.430 others(37): Show c.430+2096_430+2097insAATATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(13): Show ATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18973.hp1 NA18953.hp2 NA18973.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0104 a0001c0002t0002g0105	2	416	0.0048	20	c.430 others(37): Show c.430+2096_430+2097insAAAAAATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(13): Show ATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp1 NA19054.hp1 HG02129.hp1 NA19054.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0101 a0001c0002t0002g0102	2	416	0.0048	20	c.430 others(37): Show c.430+2096_430+2097insAAAAAAAATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(13): Show ATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 NA19090.hp2 HG02300.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0100 a0001c0002t0002g0068 a0001c0002t0002g0100	2	416	0.0048	20	c.430 others(37): Show c.430+2096_430+2097insAAAAAAAAAATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02004.hp1 HG01952.hp1 HG02004.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0017 a0001c0002t0002g0017	2	416	0.0048	20	c.430 others(37): Show c.430+2096_430+2097insAAAAAAAAAAAATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(13): Show ATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19065.hp2 HG03486.hp1 NA19065.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0004 a0001c0002t0002 a0001c0005t0004	a0001c0002t0002g0094 a0001c0005t0004g0340 a0001c0002t0002g0094 a0001c0005t0004g0340	2	416	0.0048	20	c.430 others(37): Show c.430+2096_430+2097insAAAAAAAAAAAAAATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATTT others(13): Show ATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	416	0.0024	20	c.430 others(37): Show c.430+2096_430+2097insAAAAAAAAAAAAAAAATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15497325	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0282 a0001c0001t0003g0282	1	300	0.0033	20	c.150 others(37): Show c.150-7202_150-7201insAAAAAAAAAAAAAAAAAAAA	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0034 a0001c0002t0004g0034	1	300	0.0033	20	c.149 others(37): Show c.149+4701_149+4720dupATATATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(13): Show TATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19090.hp1 HG02155.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0267 a0001c0001t0003g0268	2	300	0.0067	20	c.149 others(37): Show c.149+4694_149+4695insTTATATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSMA1_chr11_14499876_14525386	14508561	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG01167.hp2 others(24): Show HG00099.hp2 HG00423.hp1 HG01167.hp2 HG02027.hp1 HG02074.hp1 HG02155.hp2 HG02735.hp1 HG03239.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18953.hp2 NA18954.hp1 NA18963.hp1 NA18967.hp1 NA18971.hp1 NA18989.hp2 NA18995.hp2 NA19007.hp2 NA19060.hp1 NA19075.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0038 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0161	27	412	0.0655	20	c.625 others(35): Show c.625-796_625-795insTTTTTTTTTTTTTTTTTTTT	PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9			chr11	TogoVar
PSMA6_chr14_35287382_35322493	35299327	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp1 HG03041.hp2 others(2): Show HG02717.hp1 HG02970.hp1 HG03041.hp2 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065	5	380	0.0132	20	c.76+ others(35): Show c.76+6788_76+6789insTTTTTTTTTTTTTTTTTTTT	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA6_chr14_35287382_35322493	35314947	A A	ATGTGTGT others(13): Show ATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	380	0.0026	20	c.683 others(35): Show c.683+510_683+529dupGTGTGTGTGTGTGTGTGTGT	PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA7_chr20_62131733_62148394	62143431	C C	CCGGCGAC others(13): Show CCGGCGACGGGCGGCGTCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG01256.hp2 others(5): Show HG00597.hp1 HG00609.hp1 HG01256.hp2 HG01261.hp2 HG01934.hp1 NA18747.hp2 NA18994.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0003t0002g0003 a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0003t0002g0003	8	362	0.0221	20	c.-12 others(29): Show c.-129_-128insCCTGACGCCGCCCGTCGCCG	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		38		chr20	TogoVar
PSMA7_chr20_62131733_62148394	62143443	G G	GGCGTCAG others(13): Show GGCGTCAGGCGGCGACGGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	20	c.-14 others(29): Show c.-141_-140insTGCCCGTCGCCGCCTGACGC	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		50		chr20	TogoVar
PSMA7_chr20_62131733_62148394	62146605	A A	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03579.hp1 HG03486.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	2	362	0.0055	20	c.-33 others(31): Show c.-3322_-3303dupAAAAAAAAAAAAAAAAAAAA	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		3212		chr20	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18989.hp2 NA19068.hp1 HG03209.hp2 NA18989.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 a0001c0001t0002 a0001c0001t0015 a0001c0001t0016	a0001c0001t0002g0070 a0001c0001t0015g0050 a0001c0001t0016g0063 a0001c0001t0002g0070 a0001c0001t0015g0050 a0001c0001t0016g0063	3	300	0.0100	20	c.285 others(37): Show c.285+2677_285+2678insATATATATTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640052	G G	GTACTATA others(13): Show GTACTATACTATACTATACTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01516.hp2 HG01517.hp1 others(1): Show HG01123.hp1 HG01516.hp2 HG01517.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0119 a0001c0001t0005g0007 a0001c0001t0010g0287 a0001c0001t0002g0119 a0001c0001t0005g0007 a0001c0001t0010g0287	4	300	0.0133	20	c.91+ others(35): Show c.91+1289_91+1290insTAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(13): Show ATACTATACTATACTGTACTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03239.hp1 HG03927.hp1 others(1): Show HG02280.hp2 HG03239.hp1 HG03927.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0014 a0001c0001t0021 a0001c0001t0008 a0001c0001t0014 a0001c0001t0021	a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0014g0245 others(1): Show a0001c0001t0008g0246 a0001c0001t0008g0247 a0001c0001t0014g0245 a0001c0001t0021g0244	4	300	0.0133	20	c.91+ others(35): Show c.91+1254_91+1255insCAGTACAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB7_chr9_124348465_124420442	124419780	T T	TCAGCCGG others(13): Show TCAGCCGGGCGGGGATGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03486.hp2 HG01433.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0094 a0002c0002t0001g0085 a0002c0002t0001g0094	2	408	0.0049	20	c.-43 others(31): Show c.-4356_-4355insCCCCCATCCCCGCCCGGCTG	PSMB7	ENSG00000136930.13	transcript	ENST00000259457.8	protein_coding		4339		chr9	TogoVar
PSMC2_chr7_103342643_103374395	103364958	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01928.hp1 HG01934.hp1 others(3): Show HG01261.hp2 HG01928.hp1 HG01934.hp1 HG03490.hp2 HG03492.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0001g0231 a0001c0001t0002g0019 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0231 a0001c0001t0002g0019 a0001c0001t0002g0208	6	382	0.0157	20	c.756 others(35): Show c.756+658_756+677dupATATATATATATATATATAT	PSMC2	ENSG00000161057.13	transcript	ENST00000292644.5	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PSMD11_chr17_32439510_32488319	32459115	C C	CATATATA others(13): Show CATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02647.hp2 HG01123.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0139 a0001c0001t0009g0191 a0001c0001t0002g0139 a0001c0001t0009g0191	2	290	0.0069	20	c.318 others(37): Show c.318+4501_318+4520dupATATATATATATATATATAT	PSMD11	ENSG00000108671.11	transcript	ENST00000261712.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD13_chr11_231976_257984	234403	T T	TTTTTGTT others(13): Show TTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02572.hp1 HG02717.hp1 others(3): Show HG01192.hp1 HG02572.hp1 HG02717.hp1 HG03139.hp2 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0076 a0001c0001t0002g0077 others(1): Show a0001c0001t0002g0009 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078	6	450	0.0133	20	c.-26 others(31): Show c.-2647_-2646insTTTTGTTTTGTTTTGTTTTG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		2572		chr11	TogoVar
PSMD13_chr11_231976_257984	256211	T T	TGGACGGA others(13): Show TGGACGGACGGACGGACGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	2	450	0.0044	20	c.36 others(31): Show c.3611_*3612insGGACGGACGGACGGACGGAC	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		3228		chr11	TogoVar
PSMD14_chr2_161303425_161416717	161327946	C C	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02258.hp2 HG02647.hp1 others(8): Show HG02056.hp1 HG02258.hp2 HG02647.hp1 HG02886.hp1 NA18989.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19075.hp2 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0022 others(8): Show a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0114 a0001c0001t0002g0180	11	268	0.0410	20	c.48+ others(35): Show c.48+9092_48+9111dupTGTGTGTGTGTGTGTGTGTG	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02080.hp1 NA18906.hp1 others(6): Show HG02015.hp2 HG02080.hp1 NA18906.hp1 NA18943.hp2 NA18977.hp1 NA18983.hp1 NA18987.hp1 NA18989.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 others(6): Show a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0197 a0001c0001t0001g0202	9	268	0.0336	20	c.49- others(37): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(13): Show GTTGTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA19003.hp2 HG00544.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0248 a0001c0001t0001g0151 a0001c0001t0001g0248	2	268	0.0075	20	c.571 others(37): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01168.hp1 HG01168.hp2 others(7): Show HG00408.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG02055.hp2 HG02818.hp2 HG04228.hp2 NA18949.hp2 NA19011.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 others(5): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0110 a0001c0001t0001g0158 a0001c0002t0001g0197	10	420	0.0238	20	c.-35 others(31): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 NA18980.hp2 HG02258.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0212 a0001c0001t0006g0184 a0001c0001t0005g0212 a0001c0001t0006g0184	2	398	0.0050	20	c.454 others(37): Show c.454-1332_454-1313dupTTTTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME1_chr14_24131194_24143962	24135105	A A	AACACACA others(13): Show AACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG02055.hp2 HG02280.hp1 others(5): Show HG01167.hp2 HG02055.hp2 HG02280.hp1 HG02735.hp1 HG03209.hp1 HG03540.hp2 HG03710.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0002g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0002g0004 a0001c0002t0002g0008	8	418	0.0191	20	c.-11 others(31): Show c.-1158_-1157insACACACACACACACACACAC	PSME1	ENSG00000092010.15	transcript	ENST00000206451.11	protein_coding		1088		chr14	TogoVar
PSME3IP1_chr16_57147466_57191039	57160296	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0257 a0001c0002t0013g0257	1	364	0.0028	20	c.547 others(37): Show c.547+3685_547+3704dupTTTTCTTTTTTTTTTTTTTT	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding	6/6			chr16	TogoVar
PSME3IP1_chr16_57147466_57191039	57160308	A A	AAAAGAAA others(13): Show AAAAGAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0258 a0001c0002t0001g0258	1	364	0.0028	20	c.547 others(37): Show c.547+3692_547+3693insCTTTTTTTTTTTTTTTCTTT	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding	6/6			chr16	TogoVar
PSME4_chr2_53859069_53975993	53873238	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0365 a0001c0009t0001g0365	1	384	0.0026	20	c.510 others(39): Show c.5100+1100_5100+1101insTTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA18955.hp2 NA18986.hp2 others(2): Show HG02293.hp1 NA18955.hp2 NA18986.hp2 NA19002.hp2 NA19057.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0333 a0001c0005t0001g0334 a0001c0005t0001g0337 others(2): Show a0001c0005t0001g0333 a0001c0005t0001g0334 a0001c0005t0001g0337 a0001c0005t0001g0341 a0001c0005t0001g0350	5	384	0.0130	20	c.481 others(37): Show c.4816-981_4816-962dupAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0303 a0003c0004t0001g0303	1	384	0.0026	20	c.958 others(35): Show c.958-635_958-616dupTTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar

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