Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
PRTN3_chr19_835999_853175	844284	C C	CCGCGCCT others(8): Show CCGCGCCTCTCCCCTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0238 a0001c0001t0001g0239	2	415	0.0048	15	c.369 others(30): Show c.369+263_369+264insTGCGCGCCTCTCCCC		PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRTN3_chr19_835999_853175	847643	A A	AGCCCCCT others(8): Show AGCCCCCTTCCTGGCT	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	415	0.0024	15	c.601 others(30): Show c.601-152_601-138dupCCCTTCCTGGCTGCC		PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76749718	A A	AGTCAGTT others(8): Show AGTCAGTTTGGATCCC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0030 a0030	a0030c0031 a0030c0031	a0030c0031t0003 a0030c0031t0003	a0030c0031t0003g0174 a0030c0031t0003g0174	1	240	0.0042	15	c.757 others(34): Show c.757-35998_757-35997insGGGATCCAAACTGAC		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76837441	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp1 HG01081.hp2 others(21): Show HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp2 HG01258.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG02055.hp2 HG02109.hp2 HG02572.hp2 HG02622.hp2 HG02886.hp2 HG02965.hp1 HG03130.hp1 HG03130.hp2 HG03491.hp1 HG03492.hp1 HG04204.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0012 a0016	a0001c0001 a0001c0004 a0001c0045 others(6): Show a0001c0001 a0001c0004 a0001c0045 a0001c0048 a0002c0002 a0003c0003 a0005c0008 a0012c0021 a0016c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0031 a0001c0004t0001 a0001c0045t0001 a0001c0048t0004 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0004 a0003c0003t0006 a0003c0003t0011 a0003c0003t0015 a0005c0008t0016 a0012c0021t0021 a0016c0019t0025	a0001c0001t0001g0056 a0001c0001t0002g0165 a0001c0001t0031g0127 others(21): Show a0001c0001t0001g0056 a0001c0001t0002g0165 a0001c0001t0031g0127 a0001c0004t0001g0197 a0001c0045t0001g0204 a0001c0048t0004g0230 a0002c0002t0001g0011 a0002c0002t0001g0047 a0002c0002t0001g0084 a0002c0002t0001g0145 a0002c0002t0002g0136 a0003c0003t0001g0128 a0003c0003t0001g0208 a0003c0003t0004g0098 a0003c0003t0004g0108 a0003c0003t0004g0109 a0003c0003t0004g0144 a0003c0003t0004g0183 a0003c0003t0006g0107 a0003c0003t0011g0003 a0003c0003t0015g0067 a0005c0008t0016g0100 a0012c0021t0021g0239 a0016c0019t0025g0034	24	240	0.1000	15	c.508 others(32): Show c.508+9059_508+9073dupATTATTATTATTATT		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	4/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76870799	A A	AGGTAGGG others(8): Show AGGTAGGGAGGACCTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03195.hp2 HG02965.hp2 HG03195.hp2	a0009 a0012 a0009 a0012	a0009c0010 a0012c0021 a0009c0010 a0012c0021	a0009c0010t0004 a0012c0021t0002 a0009c0010t0004 a0012c0021t0002	a0009c0010t0004g0013 a0012c0021t0002g0172 a0009c0010t0004g0013 a0012c0021t0002g0172	2	240	0.0083	15	c.37- others(32): Show c.37-16592_37-16591insGAGGTCCTCCCTACC		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76894716	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00673.hp1 HG00735.hp1 others(28): Show HG00408.hp2 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp1 HG02040.hp1 HG02132.hp2 HG02523.hp2 HG03491.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp2 NA18956.hp2 NA18959.hp2 NA18981.hp2 NA18983.hp2 NA19004.hp1 NA19043.hp2 NA19056.hp2 NA19065.hp2 NA19074.hp1 NA20752.hp1 NA20905.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0007 a0031 a0032	a0001c0001 a0001c0004 a0001c0045 others(8): Show a0001c0001 a0001c0004 a0001c0045 a0002c0002 a0002c0012 a0003c0003 a0004c0005 a0006c0051 a0007c0007 a0031c0041 a0032c0038	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0027 a0001c0004t0001 a0001c0004t0002 a0001c0045t0001 a0002c0002t0001 a0002c0012t0003 a0003c0003t0001 a0003c0003t0003 a0004c0005t0001 a0006c0051t0002 a0007c0007t0010 a0007c0007t0013 a0031c0041t0003 a0032c0038t0002	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0217 others(28): Show a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0003g0217 a0001c0001t0010g0221 a0001c0001t0027g0026 a0001c0004t0001g0197 a0001c0004t0001g0203 a0001c0004t0001g0207 a0001c0004t0001g0220 a0001c0004t0001g0222 a0001c0004t0002g0196 a0001c0045t0001g0204 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0194 a0002c0002t0001g0195 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0202 a0002c0002t0001g0219 a0002c0012t0003g0190 a0003c0003t0001g0208 a0003c0003t0001g0218 a0003c0003t0003g0094 a0004c0005t0001g0019 a0006c0051t0002g0017 a0007c0007t0010g0209 a0007c0007t0013g0198 a0007c0007t0013g0201 a0031c0041t0003g0191 a0032c0038t0002g0189	31	240	0.1292	15	c.36+ others(32): Show c.36+11211_36+11212insTTTTTTTTTTTTTTT		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18						chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76894717	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01891.hp2 HG02717.hp2 others(1): Show HG01106.hp2 HG01891.hp2 HG02717.hp2 HG02970.hp2	a0001 a0004 a0026 a0001 a0004 a0026	a0001c0044 a0004c0005 a0026c0053 a0001c0044 a0004c0005 a0026c0053	a0001c0044t0001 a0004c0005t0001 a0026c0053t0033 a0001c0044t0001 a0004c0005t0001 a0026c0053t0033	a0001c0044t0001g0111 a0004c0005t0001g0015 a0004c0005t0001g0235 others(1): Show a0001c0044t0001g0111 a0004c0005t0001g0015 a0004c0005t0001g0235 a0026c0053t0033g0032	4	240	0.0167	15	c.36+ others(32): Show c.36+11196_36+11210dupTTTTTTTTTTTTTTT		PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	1/18						chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80409332	A A	AGAGGCAA others(8): Show AGAGGCAAAGGAAGGG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0174 a0001c0001t0009g0174	1	300	0.0033	15	c.-3+ others(28): Show c.-3+690_-3+704dupGAGGCAAAGGAAGGG		PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr10	TogoVar
PRX_chr19_40388768_40418378	40400592	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG02109.hp1 others(9): Show HG00140.hp2 HG00738.hp1 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02622.hp1 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03710.hp1 NA19240.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0005 a0002c0002 a0005c0005	a0002c0002t0001 a0005c0005t0001 a0002c0002t0001 a0005c0005t0001	a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0120 others(9): Show a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0167 a0002c0002t0001g0250 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0258 a0002c0002t0001g0260 a0002c0002t0001g0264 a0005c0005t0001g0046	12	306	0.0392	15	c.185 others(32): Show c.185-1791_185-1777dupTTTTTTTTTTTTTTT		PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	5/6						chr19	TogoVar
PRX_chr19_40388768_40418378	40409451	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0050 a0006c0006t0001g0050	1	306	0.0033	15	c.-24 others(34): Show c.-242-1083_-242-1069dupATAATAATAATAATA		PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding	1/6						chr19	TogoVar
PRX_chr19_40388768_40418378	40418190	T T	TTTTTCTT others(8): Show TTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02809.hp2 HG02896.hp2 others(3): Show HG02145.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 others(3): Show a0003c0003t0001g0031 a0003c0003t0001g0032 a0003c0003t0001g0033 a0003c0003t0001g0034 a0003c0003t0001g0035 a0003c0003t0001g0036	6	306	0.0196	15	c.-50 others(26): Show c.-5096_-5095insGAAAAGAAAAGAAAA		PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding					4813		chr19	TogoVar
PSAP_chr10_71811298_71856251	71853204	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01175.hp1 others(18): Show HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01192.hp1 HG01361.hp2 HG02055.hp1 HG02145.hp1 HG03654.hp1 HG03688.hp1 HG03831.hp2 HG04199.hp1 NA18612.hp1 NA18940.hp1 NA18979.hp1 NA19005.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp2 NA19070.hp1 NA19074.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0003c0003t0002 a0001c0001t0001 a0001c0001t0002 a0003c0003t0002	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0049 others(16): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0184 a0001c0001t0001g0188 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0002g0010 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0193 a0001c0001t0002g0216 a0003c0003t0002g0238	21	430	0.0488	15	c.-19 others(26): Show c.-1984_-1983insTTTTTTTTTTTTTTT		PSAP	ENSG00000197746.15	transcript	ENST00000394936.8	protein_coding					1954		chr10	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 NA18942.hp2 others(4): Show HG02257.hp1 HG02258.hp2 NA18942.hp2 NA18986.hp1 NA18998.hp2 NA19068.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0158 a0001c0001t0001g0176 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0158 a0001c0001t0001g0176 a0001c0002t0001g0136 a0001c0002t0001g0137	7	416	0.0168	15	c.870 others(32): Show c.870-1095_870-1094insATATATTTTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18999.hp1 NA19088.hp2 NA18995.hp1 NA18999.hp1 NA19088.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0001 a0006c0004t0001 a0001c0001t0001 a0006c0004t0001	a0001c0001t0001g0174 a0001c0001t0001g0185 a0006c0004t0001g0175 a0001c0001t0001g0174 a0001c0001t0001g0185 a0006c0004t0001g0175	3	416	0.0072	15	c.870 others(32): Show c.870-1095_870-1094insATATTTTTTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSAT1_chr9_78292125_78335093	78326955	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG03139.hp2 others(8): Show HG00558.hp2 HG00673.hp1 HG03139.hp2 HG03704.hp2 NA18947.hp2 NA18951.hp2 NA18956.hp2 NA18982.hp2 NA18984.hp2 NA18986.hp2 NA19072.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0002t0003 a0004c0007t0001	a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0173 others(8): Show a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0316 a0001c0001t0002g0131 a0001c0002t0002g0050 a0001c0002t0002g0060 a0001c0002t0002g0072 a0001c0002t0003g0273 a0004c0007t0001g0177	11	416	0.0264	15	c.870 others(32): Show c.870-1095_870-1094insATTTTTTTTTTTTTT		PSAT1	ENSG00000135069.14	transcript	ENST00000376588.4	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr9	TogoVar
PSD3_chr8_18522303_19018703	18524782	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 NA20300.hp2 NA21309.hp1 HG02559.hp2 NA20300.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0002 a0002c0007t0002 a0001c0001t0002 a0002c0007t0002	a0001c0001t0002g0166 a0001c0001t0002g0200 a0002c0007t0002g0170 a0001c0001t0002g0166 a0001c0001t0002g0200 a0002c0007t0002g0170	3	228	0.0132	15	c.10 others(28): Show c.10960_*10961insTTTTTTTTTTTTTTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding					2520		chr8	TogoVar
PSD3_chr8_18522303_19018703	18570843	C C	CTATTATT others(8): Show CTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp1 HG02280.hp1 others(7): Show HG01891.hp1 HG01934.hp1 HG02280.hp1 HG02559.hp1 HG02698.hp2 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp1 NA19081.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0019 a0001c0001t0049 others(6): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0049 a0001c0001t0078 a0001c0002t0001 a0001c0002t0019 a0001c0002t0038 a0002c0003t0004 a0003c0004t0001	a0001c0001t0001g0048 a0001c0001t0019g0186 a0001c0001t0049g0154 others(7): Show a0001c0001t0001g0048 a0001c0001t0019g0186 a0001c0001t0049g0154 a0001c0001t0078g0217 a0001c0002t0001g0211 a0001c0002t0019g0182 a0001c0002t0019g0199 a0001c0002t0038g0125 a0002c0003t0004g0220 a0003c0004t0001g0067	10	228	0.0439	15	c.278 others(34): Show c.2784+1670_2784+1684dupATAATAATAATAATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	14/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18743959	T T	TCACCACC others(8): Show TCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02109.hp2 HG02818.hp1 others(6): Show HG02074.hp1 HG02109.hp2 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03225.hp2 NA19056.hp1 NA19060.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0028 others(5): Show a0001c0001 a0001c0002 a0001c0028 a0002c0003 a0002c0011 a0002c0030 a0002c0031 a0003c0004	a0001c0001t0055 a0001c0001t0061 a0001c0002t0003 others(6): Show a0001c0001t0055 a0001c0001t0061 a0001c0002t0003 a0001c0028t0006 a0002c0003t0067 a0002c0011t0020 a0002c0030t0021 a0002c0031t0023 a0003c0004t0014	a0001c0001t0055g0171 a0001c0001t0061g0091 a0001c0002t0003g0213 others(6): Show a0001c0001t0055g0171 a0001c0001t0061g0091 a0001c0002t0003g0213 a0001c0028t0006g0195 a0002c0003t0067g0138 a0002c0011t0020g0002 a0002c0030t0021g0183 a0002c0031t0023g0192 a0003c0004t0014g0139	9	228	0.0395	15	c.217 others(36): Show c.2172+21475_2172+21489dupGTGGTGGTGGTGGTG		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18755429	C C	CAAAATAA others(8): Show CAAAATAACATAACAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18970.hp1 NA18999.hp2 NA18965.hp2 NA18970.hp1 NA18999.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0032 a0001c0001 a0002c0003 a0002c0032	a0001c0001t0001 a0002c0003t0018 a0002c0032t0046 a0001c0001t0001 a0002c0003t0018 a0002c0032t0046	a0001c0001t0001g0055 a0002c0003t0018g0204 a0002c0032t0046g0116 a0001c0001t0001g0055 a0002c0003t0018g0204 a0002c0032t0046g0116	3	228	0.0132	15	c.217 others(36): Show c.2172+10019_2172+10020insATGTTATGTTATTTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18755429	C C	CAACATAA others(8): Show CAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00738.hp1 HG01099.hp1 others(22): Show HG00544.hp2 HG00738.hp1 HG01099.hp1 HG01496.hp2 HG01978.hp1 HG02074.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG03130.hp1 HG03239.hp1 HG03486.hp2 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 NA18964.hp1 NA18989.hp2 NA19030.hp2 NA19060.hp1 NA19074.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0013 others(5): Show a0001c0001 a0001c0002 a0001c0013 a0001c0014 a0002c0003 a0002c0011 a0003c0008 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0026 a0001c0001t0050 a0001c0002t0001 a0001c0002t0003 a0001c0002t0008 a0001c0013t0001 a0001c0014t0013 a0001c0014t0020 a0002c0003t0001 a0002c0003t0004 a0002c0003t0040 a0002c0003t0067 a0002c0011t0020 a0003c0008t0003 a0003c0008t0011 a0004c0009t0003 a0004c0009t0076	a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0076 others(22): Show a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0002g0163 a0001c0001t0005g0097 a0001c0001t0006g0197 a0001c0001t0026g0161 a0001c0001t0050g0178 a0001c0002t0001g0062 a0001c0002t0003g0213 a0001c0002t0008g0036 a0001c0013t0001g0007 a0001c0014t0013g0180 a0001c0014t0020g0179 a0002c0003t0001g0047 a0002c0003t0001g0052 a0002c0003t0001g0074 a0002c0003t0004g0219 a0002c0003t0040g0080 a0002c0003t0067g0138 a0002c0011t0020g0002 a0003c0008t0003g0015 a0003c0008t0011g0024 a0004c0009t0003g0126 a0004c0009t0076g0155	25	228	0.1097	15	c.217 others(36): Show c.2172+10005_2172+10019dupATGTTATGTTATGTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18755451	A A	ACATAACA others(8): Show ACATAACATAACATAG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0181 a0001c0002t0017g0181	1	228	0.0044	15	c.217 others(34): Show c.2172+9997_2172+9998insCTATGTTATGTTATG		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18803419	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0029 a0002c0029	a0002c0029t0017 a0002c0029t0017	a0002c0029t0017g0176 a0002c0029t0017g0176	1	228	0.0044	15	c.191 others(34): Show c.1910+1102_1910+1103insACACACACACACACA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	6/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18828067	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0147	1	228	0.0044	15	c.163 others(36): Show c.1635-23170_1635-23169insAAAAATATATATATA		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0224 a0004c0005t0004g0224	1	228	0.0044	15	c.22- others(32): Show c.22-13103_22-13102insATATATATTTTTTTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0184 a0001c0002t0022g0184	1	228	0.0044	15	c.22- others(32): Show c.22-13103_22-13102insATATATATATATTTT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15						chr8	TogoVar
PSD3_chr8_18522303_19018703	18984192	A A	AAATAATA others(8): Show AAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02486.hp1 NA18939.hp2 others(2): Show HG00544.hp2 HG02486.hp1 NA18939.hp2 NA18999.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0002t0001 a0002c0003t0018 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0018 a0002c0006t0001	a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0002t0001g0143 others(2): Show a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0002t0001g0143 a0002c0003t0018g0204 a0002c0006t0001g0057	5	228	0.0219	15	c.21+ others(32): Show c.21+29356_21+29370dupATTATTATTATTATT		PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15						chr8	TogoVar
PSD_chr10_102397619_102423785	102403288	A A	AGGGGGGG others(8): Show AGGGGGGGGGGAGGGG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19078.hp2 NA19078.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0006 a0015c0015t0006	a0015c0015t0006g0133 a0015c0015t0006g0133	1	388	0.0026	15	c.298 others(24): Show c.2986_2987insCCCCTCCCCCCCCCC	p.Ser others(28): Show p.Ser995_Leu996insProProProProPro	PSD	ENSG00000059915.17	transcript	ENST00000020673.6	protein_coding	17/17	3154/3824	2986/3075	996/1024			chr10	TogoVar
PSEN1_chr14_73131507_73228691	73151895	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0311 a0001c0001t0019g0311	1	378	0.0027	15	c.87+ others(30): Show c.87+3789_87+3790insATATATATATATATA		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	3/11						chr14	TogoVar
PSEN1_chr14_73131507_73228691	73202462	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	378	0.0027	15	c.869 others(32): Show c.869-3923_869-3922insATATATATTTTTTTT		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSEN1_chr14_73131507_73228691	73212088	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03098.hp1 HG03017.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0002 a0001c0001t0029	a0001c0001t0002g0146 a0001c0001t0029g0133 a0001c0001t0002g0146 a0001c0001t0029g0133	2	378	0.0053	15	c.112 others(32): Show c.1129+173_1129+187dupTTTTTTTTTTTTTTT		PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSG4_chr19_43187702_43210638	43205111	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(115): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01074.hp2 HG01175.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02080.hp2 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02572.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp2 HG03453.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18963.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18991.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19011.hp1 NA19012.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19070.hp1 NA19070.hp2 NA19086.hp2 NA19090.hp1 NA20752.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0007 a0013 a0014 a0018 a0026 a0027	a0001c0001 a0001c0024 a0001c0026 others(9): Show a0001c0001 a0001c0024 a0001c0026 a0003c0030 a0006c0006 a0007c0008 a0007c0022 a0013c0013 a0014c0016 a0018c0018 a0026c0029 a0027c0032	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0024t0001 a0001c0026t0001 a0003c0030t0002 a0006c0006t0001 a0007c0008t0001 a0007c0022t0001 a0013c0013t0001 a0014c0016t0001 a0018c0018t0001 a0026c0029t0001 a0027c0032t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 others(72): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0007g0040 a0001c0001t0007g0161 a0001c0001t0008g0042 a0001c0001t0008g0184 a0001c0001t0010g0046 a0001c0001t0012g0109 a0001c0024t0001g0055 a0001c0026t0001g0106 a0003c0030t0002g0090 a0006c0006t0001g0009 a0006c0006t0001g0033 a0006c0006t0001g0092 a0006c0006t0001g0098 a0006c0006t0001g0137 a0007c0008t0001g0008 a0007c0008t0001g0071 a0007c0008t0001g0072 a0007c0022t0001g0054 a0013c0013t0001g0113 a0013c0013t0001g0116 a0013c0013t0001g0125 a0014c0016t0001g0030 a0018c0018t0001g0120 a0018c0018t0001g0131 a0026c0029t0001g0115 a0027c0032t0001g0112	118	300	0.3933	15	c.64+ others(28): Show c.64+361_64+362insAAAAAAAAAAAAAAA		PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19070.hp1 NA19054.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0312 a0001c0001t0001g0245 a0001c0001t0001g0312	2	416	0.0048	15	c.430 others(32): Show c.430+2096_430+2097insATATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	416	0.0024	15	c.430 others(32): Show c.430+2096_430+2097insAAATATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	416	0.0024	15	c.430 others(32): Show c.430+2096_430+2097insAAAAATATATATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0098 a0001c0002t0002g0098	1	416	0.0024	15	c.430 others(32): Show c.430+2096_430+2097insAAAAAAAAAAATATA		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSG7_chr19_42919132_42942207	42933308	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02486.hp1 NA18953.hp1 others(7): Show HG02135.hp1 HG02486.hp1 NA18953.hp1 NA18970.hp1 NA18974.hp2 NA18991.hp1 NA19068.hp2 NA19074.hp1 NA19077.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0207 others(5): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0207 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0299 a0001c0001t0001g0319 a0001c0001t0012g0154	10	416	0.0240	15	c.430 others(32): Show c.430+2095_430+2096insTATATATATATATAT		PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5						chr19	TogoVar
PSIP1_chr9_15459066_15515970	15497325	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0245 a0001c0001t0007g0245	1	300	0.0033	15	c.150 others(32): Show c.150-7216_150-7202dupAAAAAAAAAAAAAAA		PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15						chr9	TogoVar
PSKH1_chr16_67888254_67934676	67934091	T T	TTGGTGAG others(8): Show TTGGTGAGACTGTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	230	0.0044	15	c.64 others(26): Show c.6449_*6450insTGGTGAGACTGTGGG		PSKH1	ENSG00000159792.10	transcript	ENST00000291041.6	protein_coding					4416		chr16	TogoVar
PSMA1_chr11_14499876_14525386	14508561	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02717.hp1 HG02965.hp2 others(5): Show HG00423.hp2 HG02717.hp1 HG02965.hp2 HG03516.hp2 NA18963.hp2 NA18979.hp1 NA18979.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0065 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0001g0081	8	412	0.0194	15	c.625 others(30): Show c.625-810_625-796dupTTTTTTTTTTTTTTT		PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9						chr11	TogoVar
PSMA6_chr14_35287382_35322493	35287777	C C	CACCGCAA others(8): Show CACCGCAAGTCTAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	380	0.0026	15	c.-47 others(26): Show c.-4700_-4699insACCGCAAGTCTAGAG		PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding					4604		chr14	TogoVar
PSMA6_chr14_35287382_35322493	35299327	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00597.hp2 others(48): Show HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00735.hp2 HG01071.hp2 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01358.hp1 HG01358.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02074.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp2 HG02809.hp2 HG03209.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp1 HG06807.hp2 NA18943.hp1 NA18947.hp1 NA18949.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18995.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0027 others(40): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0262 a0001c0001t0002g0211 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0206	51	380	0.1342	15	c.76+ others(30): Show c.76+6788_76+6789insTTTTTTTTTTTTTTT		PSMA6	ENSG00000100902.11	transcript	ENST00000261479.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA7_chr20_62131733_62148394	62146605	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	1	362	0.0028	15	c.-33 others(26): Show c.-3317_-3303dupAAAAAAAAAAAAAAA		PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding					3212		chr20	TogoVar
PSMB2_chr1_35594541_35646526	35628578	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01496.hp2 HG01928.hp1 others(5): Show HG00438.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp1 NA18977.hp2 NA18990.hp2 NA19060.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0015 a0001c0001t0002 a0001c0001t0007 a0001c0001t0015	a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0054 others(5): Show a0001c0001t0002g0022 a0001c0001t0002g0027 a0001c0001t0002g0054 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0007g0060 a0001c0001t0007g0062 a0001c0001t0015g0052	8	300	0.0267	15	c.285 others(32): Show c.285+2681_285+2695dupTTTTTTTTTTTTTTT		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18981.hp2 NA19085.hp1 HG01261.hp1 NA18981.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0025 a0001c0001t0002g0051 a0001c0001t0007g0121 a0001c0001t0002g0025 a0001c0001t0002g0051 a0001c0001t0007g0121	3	300	0.0100	15	c.285 others(32): Show c.285+2677_285+2678insATTTTTTTTTTTTTT		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18955.hp2 HG01255.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0026 a0001c0001t0005g0012 a0001c0001t0002g0026 a0001c0001t0005g0012	2	300	0.0067	15	c.285 others(32): Show c.285+2677_285+2678insATATATTTTTTTTTT		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18979.hp2 HG03654.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0230 a0001c0001t0001g0204 a0001c0001t0001g0230	2	300	0.0067	15	c.285 others(32): Show c.285+2677_285+2678insATATATATATATATT		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0234 a0001c0001t0003g0234	1	300	0.0033	15	c.285 others(32): Show c.285+2677_285+2678insATATATATATATATA		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628631	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	300	0.0033	15	c.285 others(32): Show c.285+2642_285+2643insAAAAAAAAAAATATA		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628631	A A	ATATTTTT others(8): Show ATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	300	0.0033	15	c.285 others(32): Show c.285+2642_285+2643insAAAAAAAAAAAAATA		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628632	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0131 a0001c0001t0028g0131	1	300	0.0033	15	c.285 others(32): Show c.285+2641_285+2642insTATATATATATATAT		PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5						chr1	TogoVar

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