Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSG1_chr19_42861464_42884713	42879901	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02148.hp2 HG02300.hp1 others(3): Show HG02109.hp2 HG02148.hp2 HG02300.hp1 HG02559.hp1 HG03041.hp2 NA18522.hp1	a0002 a0007 a0002 a0007	a0002c0002 a0007c0008 a0002c0002 a0007c0008	a0002c0002t0002 a0002c0002t0004 a0007c0008t0005 a0002c0002t0002 a0002c0002t0004 a0007c0008t0005	a0002c0002t0002g0002 a0002c0002t0004g0070 a0002c0002t0004g0071 others(1): Show a0002c0002t0002g0002 a0002c0002t0004g0070 a0002c0002t0004g0071 a0007c0008t0005g0030	6	408	0.0147	18	c.-32 others(27): Show c.-321_-320insGTGTGTGTGTGTGTGTGT	PSG1	ENSG00000231924.10	transcript	ENST00000436291.7	protein_coding		189		chr19	TogoVar
PSG2_chr19_43059209_43087701	43082880	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG02293.hp2 HG03486.hp1 others(3): Show HG00597.hp2 HG02293.hp2 HG03486.hp1 NA18941.hp1 NA18965.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0020 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0237 a0001c0001t0004g0029	6	424	0.0142	18	c.-32 others(27): Show c.-329_-312dupGTGTGTGTGTGTGTGTGT	PSG2	ENSG00000242221.9	transcript	ENST00000406487.6	protein_coding		180		chr19	TogoVar
PSG4_chr19_43187702_43210638	43205111	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA21309.hp1 HG02647.hp1 NA21309.hp1	a0001 a0024 a0001 a0024	a0001c0011 a0024c0027 a0001c0011 a0024c0027	a0001c0011t0005 a0024c0027t0005 a0001c0011t0005 a0024c0027t0005	a0001c0011t0005g0080 a0024c0027t0005g0079 a0001c0011t0005g0080 a0024c0027t0005g0079	2	300	0.0067	18	c.64+ others(31): Show c.64+361_64+362insAAAAAAAAAAAAAAAAAA	PSG4	ENSG00000243137.8	transcript	ENST00000405312.8	protein_coding	1/5			chr19	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01515.hp1 HG02165.hp2 others(3): Show HG01123.hp1 HG01515.hp1 HG02165.hp2 HG02451.hp2 HG02809.hp1 HG03041.hp2	a0001 a0004 a0011 a0001 a0004 a0011	a0001c0001 a0004c0004 a0011c0012 a0001c0001 a0004c0004 a0011c0012	a0001c0001t0001 a0004c0004t0003 a0011c0012t0003 a0001c0001t0001 a0004c0004t0003 a0011c0012t0003	a0001c0001t0001g0163 a0004c0004t0003g0018 a0004c0004t0003g0097 others(1): Show a0001c0001t0001g0163 a0004c0004t0003g0018 a0004c0004t0003g0097 a0011c0012t0003g0189	6	430	0.0140	18	c.430 others(35): Show c.430+2059_430+2076dupAAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG6_chr19_42897086_42922894	42918104	G G	GACACACA others(11): Show GACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG02015.hp2 others(12): Show HG00423.hp2 HG00544.hp1 HG02015.hp2 HG02071.hp1 HG03139.hp1 HG03669.hp1 HG04204.hp1 NA18941.hp2 NA19000.hp2 NA19001.hp1 NA19066.hp1 NA19075.hp1 NA19075.hp2 NA19088.hp1 NA19240.hp2	a0002 a0003 a0015 a0002 a0003 a0015	a0002c0002 a0003c0003 a0015c0035 a0002c0002 a0003c0003 a0015c0035	a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 others(1): Show a0002c0002t0001 a0002c0002t0006 a0003c0003t0001 a0015c0035t0001	a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0042 others(7): Show a0002c0002t0001g0012 a0002c0002t0001g0024 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0172 a0002c0002t0006g0146 a0003c0003t0001g0007 a0003c0003t0001g0014 a0003c0003t0001g0167 a0015c0035t0001g0152	15	414	0.0362	18	c.-33 others(27): Show c.-330_-313dupGTGTGTGTGTGTGTGTGT	PSG6	ENSG00000170848.16	transcript	ENST00000187910.7	protein_coding		211		chr19	TogoVar
PSG7_chr19_42919132_42942207	42933265	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0323 a0002c0003t0003g0323	1	416	0.0024	18	c.430 others(35): Show c.430+2138_430+2139insTATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933266	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG03139.hp2 HG03209.hp2 others(3): Show HG02293.hp1 HG03139.hp2 HG03209.hp2 NA18942.hp2 NA18960.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0002t0002 a0001c0011t0001 a0001c0001t0001 a0001c0002t0002 a0001c0011t0001	a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0314 others(2): Show a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0314 a0001c0002t0002g0012 a0001c0011t0001g0347	6	416	0.0144	18	c.430 others(35): Show c.430+2120_430+2137dupATATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03654.hp1 HG02735.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0178 a0001c0002t0002g0083 a0001c0001t0001g0178 a0001c0002t0002g0083	2	416	0.0048	18	c.430 others(35): Show c.430+2096_430+2097insAATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(11): Show ATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 NA18988.hp2 HG00323.hp1 HG00323.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0002t0002g0078 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0002t0002g0078	3	416	0.0072	18	c.430 others(35): Show c.430+2096_430+2097insAAAAAATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(11): Show ATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	416	0.0024	18	c.430 others(35): Show c.430+2096_430+2097insAAAAAAAATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0095 a0001c0002t0002g0095	1	416	0.0024	18	c.430 others(35): Show c.430+2096_430+2097insAAAAAAAAAAAATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSIP1_chr9_15459066_15515970	15501840	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02886.hp2 others(1): Show HG02109.hp2 HG02559.hp1 HG02886.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0281 a0001c0001t0006g0283 a0001c0001t0007g0246 others(1): Show a0001c0001t0006g0281 a0001c0001t0006g0283 a0001c0001t0007g0246 a0001c0001t0007g0287	4	300	0.0133	18	c.149 others(35): Show c.149+4703_149+4720dupATATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSIP1_chr9_15459066_15515970	15501866	T T	TATATATA others(11): Show TATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	300	0.0033	18	c.149 others(35): Show c.149+4694_149+4695insTTATATATATATATATAT	PSIP1	ENSG00000164985.15	transcript	ENST00000380733.9	protein_coding	3/15			chr9	TogoVar
PSKH2_chr8_86042109_86074668	86057285	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02145.hp1 others(1): Show HG01081.hp2 HG02055.hp1 HG02145.hp1 HG02809.hp1	a0003 a0003	a0003c0004 a0003c0006 a0003c0004 a0003c0006	a0003c0004t0002 a0003c0006t0010 a0003c0004t0002 a0003c0006t0010	a0003c0004t0002g0272 a0003c0004t0002g0273 a0003c0004t0002g0274 others(1): Show a0003c0004t0002g0272 a0003c0004t0002g0273 a0003c0004t0002g0274 a0003c0006t0010g0265	4	420	0.0095	18	c.852 others(35): Show c.852+6662_852+6679dupGTGTGTGTGTGTGTGTGT	PSKH2	ENSG00000147613.8	transcript	ENST00000276616.3	protein_coding	2/2			chr8	TogoVar
PSMA1_chr11_14499876_14525386	14508561	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00673.hp1 HG01081.hp1 others(20): Show HG00099.hp1 HG00673.hp1 HG01081.hp1 HG01123.hp1 HG01192.hp2 HG02015.hp1 HG02155.hp1 HG02559.hp1 HG02630.hp1 HG02683.hp1 HG03225.hp1 HG03486.hp2 NA18747.hp2 NA18946.hp2 NA18962.hp1 NA18966.hp1 NA18986.hp1 NA18988.hp2 NA19009.hp2 NA19054.hp2 NA19066.hp2 NA19085.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0102 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0041 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0001g0157	23	412	0.0558	18	c.625 others(33): Show c.625-796_625-795insTTTTTTTTTTTTTTTTTT	PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9			chr11	TogoVar
PSMA1_chr11_14499876_14525386	14508564	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	412	0.0024	18	c.625 others(33): Show c.625-799_625-798insGTTTTTTTTTTTTTTTTT	PSMA1	ENSG00000129084.18	transcript	ENST00000396394.7	protein_coding	8/9			chr11	TogoVar
PSMA3_chr14_58239843_58277004	58254340	A A	ATATATAT others(11): Show ATATATATATATATGTATG	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18957.hp1 HG02080.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	332	0.0060	18	c.228 others(35): Show c.228+2101_228+2102insATATATATATGTATGTAT	PSMA3	ENSG00000100567.13	transcript	ENST00000216455.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA6_chr14_35287382_35322493	35299327	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG01109.hp2 others(20): Show HG00140.hp1 HG00408.hp1 HG01109.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01433.hp1 HG02602.hp2 HG02647.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp2 HG03704.hp1 HG04204.hp2 NA18941.hp2 NA18947.hp2 NA18960.hp2 NA18978.hp1 NA18989.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0033 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0047 a0001c0001t0001g0054 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138	23	380	0.0605	18	c.76+ others(33): Show c.76+6788_76+6789insTTTTTTTTTTTTTTTTTT	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(11): Show ATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG03017.hp1 others(2): Show HG01255.hp1 HG01255.hp2 HG03017.hp1 HG03492.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0002 a0001c0002t0002 a0001c0003t0002	a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0012 others(1): Show a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0012 a0001c0003t0002g0046	5	362	0.0138	18	c.-33 others(29): Show c.-3320_-3303dupAAAAAAAAAAAAAAAAAA	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		3212		chr20	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0024 a0001c0001t0016g0024	1	300	0.0033	18	c.285 others(35): Show c.285+2677_285+2678insATATTTTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	300	0.0033	18	c.285 others(35): Show c.285+2677_285+2678insATATATTTTTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35628631	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0126 a0001c0001t0012g0126	1	300	0.0033	18	c.285 others(35): Show c.285+2642_285+2643insAAAAAAAAAATATATATA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB9_chr6_32849192_32864851	32851924	T T	TGTGTGAG others(11): Show TGTGTGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	1	455	0.0022	18	c.-23 others(29): Show c.-2306_-2305insGTGTGAGAGAGAGAGAGA	PSMB9	ENSG00000240065.8	transcript	ENST00000374859.3	protein_coding		2267		chr6	TogoVar
PSMC2_chr7_103342643_103374395	103364958	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01515.hp2 HG02080.hp2 others(8): Show HG00423.hp2 HG01515.hp2 HG02080.hp2 HG02273.hp2 HG02559.hp1 HG02896.hp2 HG02897.hp2 HG03195.hp1 HG03239.hp2 NA18971.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0275 a0001c0001t0002g0042 a0001c0001t0002g0146 others(7): Show a0001c0001t0001g0275 a0001c0001t0002g0042 a0001c0001t0002g0146 a0001c0001t0002g0195 a0001c0001t0002g0226 a0001c0001t0002g0232 a0001c0001t0002g0255 a0001c0001t0004g0068 a0001c0001t0004g0070 a0001c0001t0008g0234	11	382	0.0288	18	c.756 others(33): Show c.756+660_756+677dupATATATATATATATATAT	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(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02976.hp2 HG02622.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0114 a0001c0001t0007g0172 a0001c0001t0007g0114 a0001c0001t0007g0172	2	290	0.0069	18	c.318 others(35): Show c.318+4503_318+4520dupATATATATATATATATAT	PSMD11	ENSG00000108671.11	transcript	ENST00000261712.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD12_chr17_67332916_67371577	67351392	A A	AAATAATA others(11): Show AAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01358.hp1 HG03239.hp1 others(3): Show HG01261.hp2 HG01358.hp1 HG03239.hp1 NA18990.hp2 NA19000.hp2 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 others(1): Show a0001c0001t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0017	a0001c0001t0002g0064 a0001c0002t0003g0297 a0001c0002t0004g0336 others(3): Show a0001c0001t0002g0064 a0001c0002t0003g0297 a0001c0002t0004g0336 a0001c0002t0004g0353 a0001c0002t0017g0326 a0001c0002t0017g0327	6	398	0.0151	18	c.298 others(35): Show c.298-1074_298-1057dupATTATTATTATTATTATT	PSMD12	ENSG00000197170.10	transcript	ENST00000356126.8	protein_coding	3/10			chr17	TogoVar
PSMD13_chr11_231976_257984	234403	T T	TTTGTTTT others(11): Show TTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01256.hp2 HG01258.hp1 others(2): Show HG00639.hp2 HG01256.hp2 HG01258.hp1 NA19090.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0137 others(1): Show a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0137 a0001c0001t0001g0151	5	450	0.0111	18	c.-26 others(29): Show c.-2647_-2646insTTGTTTTGTTTTGTTTTG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		2572		chr11	TogoVar
PSMD13_chr11_231976_257984	240101	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18939.hp2 NA18947.hp1 others(1): Show HG00438.hp2 NA18939.hp2 NA18947.hp1 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 others(1): Show a0002c0002t0001g0348 a0002c0002t0001g0349 a0002c0002t0001g0350 a0002c0002t0001g0359	4	450	0.0089	18	c.174 others(35): Show c.174+1035_174+1052dupTTTTTTTTTTTTTTTTTT	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD14_chr2_161303425_161416717	161327946	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG02040.hp1 others(14): Show HG00323.hp1 HG00423.hp2 HG02040.hp1 HG02074.hp2 HG02109.hp2 HG02300.hp1 HG02630.hp2 HG03139.hp1 HG03834.hp2 NA18960.hp1 NA18988.hp2 NA18990.hp1 NA18998.hp2 NA18999.hp2 NA19076.hp2 NA19087.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0013 a0001c0001t0002g0020 others(14): Show a0001c0001t0001g0204 a0001c0001t0002g0013 a0001c0001t0002g0020 a0001c0001t0002g0049 a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0110	17	268	0.0634	18	c.48+ others(33): Show c.48+9094_48+9111dupTGTGTGTGTGTGTGTGTG	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161327981	T T	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0164 a0001c0001t0002g0164	1	268	0.0037	18	c.48+ others(33): Show c.48+9111_48+9112insTGTGTGTGTGTGTGAGTG	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(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	268	0.0037	18	c.49- others(35): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTT	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(11): Show GTTGTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02622.hp2 NA19076.hp1 HG02074.hp1 HG02622.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0249 a0001c0001t0001g0222 a0001c0001t0001g0232 a0001c0001t0001g0249	3	268	0.0112	18	c.571 others(35): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161414140	T T	TGAGGGCA others(11): Show TGAGGGCAAATGGCAGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG01978.hp1 HG03834.hp2 others(1): Show HG00323.hp1 HG01978.hp1 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0002g0083 others(1): Show a0001c0001t0002g0055 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0107	4	268	0.0149	18	c.27 others(29): Show c.2740_*2741insGAGGGCAAATGGCAGTAG	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding		2424		chr2	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02970.hp1 HG04204.hp2 others(3): Show HG02083.hp2 HG02970.hp1 HG04204.hp2 NA18956.hp1 NA18978.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0047 a0001c0001t0001g0172 a0001c0001t0001g0179	6	420	0.0143	18	c.-35 others(29): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD4_chr1_151249734_151272479	151264979	G G	GCCCTCAG others(11): Show GCCCTCAGGAGAACCTGGC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	420	0.0024	18	c.369 others(31): Show c.369+62_369+79dupCCCTCAGGAGAACCTGGC	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
PSMD6_chr3_64005551_64028494	64011531	A A	ACCCAGAT others(11): Show ACCCAGATTTGAAATTCTT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	426	0.0024	18	c.996 others(33): Show c.996-594_996-577dupAAGAATTTCAAATCTGGG	PSMD6	ENSG00000163636.11	transcript	ENST00000295901.9	protein_coding	6/7			chr3	TogoVar
PSMD9_chr12_121883790_121923297	121901666	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0008 a0005c0005t0008	a0005c0005t0008g0343 a0005c0005t0008g0343	1	398	0.0025	18	c.454 others(35): Show c.454-1330_454-1313dupTTTTTTTTTTTTTTTTTT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSMD9_chr12_121883790_121923297	121904639	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp2 others(23): Show HG00099.hp1 HG00280.hp2 HG00323.hp2 HG00741.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp2 HG01975.hp2 HG02015.hp2 HG02148.hp1 HG02630.hp2 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp1 HG03195.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 others(23): Show a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0004g0052 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0074 a0001c0001t0004g0077 a0001c0001t0004g0101	26	398	0.0653	18	c.555 others(35): Show c.555+1550_555+1567dupATTATTATTATTATTATT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSMD9_chr12_121883790_121923297	121904639	T T	TTTTTTAT others(11): Show TTTTTTATTATTATTATTA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0112 a0001c0001t0005g0112	1	398	0.0025	18	c.555 others(35): Show c.555+1534_555+1535insTTTATTATTATTATTATT	PSMD9	ENSG00000110801.14	transcript	ENST00000541212.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PSME1_chr14_24131194_24143962	24135105	A A	AACACACA others(11): Show AACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02015.hp2 HG02109.hp2 others(7): Show HG01884.hp2 HG02015.hp2 HG02109.hp2 HG02647.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0002g0004 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0002g0004	10	418	0.0239	18	c.-11 others(29): Show c.-1158_-1157insACACACACACACACACAC	PSME1	ENSG00000092010.15	transcript	ENST00000206451.11	protein_coding		1088		chr14	TogoVar
PSME3_chr17_42828397_42848760	42848524	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	264	0.0038	18	c.69 others(29): Show c.6946_*6947insATATATATATATATATAT	PSME3	ENSG00000131467.12	transcript	ENST00000590720.6	protein_coding		4765		chr17	TogoVar
PSME4_chr2_53859069_53975993	53873238	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01346.hp2 others(4): Show HG01099.hp2 HG01106.hp1 HG01346.hp2 HG01516.hp2 HG02257.hp2 HG02486.hp1 NA20805.hp2	a0001 a0011 a0001 a0011	a0001c0006 a0011c0023 a0001c0006 a0011c0023	a0001c0006t0003 a0011c0023t0003 a0001c0006t0003 a0011c0023t0003	a0001c0006t0003g0025 a0001c0006t0003g0026 a0001c0006t0003g0027 others(4): Show a0001c0006t0003g0025 a0001c0006t0003g0026 a0001c0006t0003g0027 a0001c0006t0003g0029 a0001c0006t0003g0030 a0001c0006t0003g0172 a0011c0023t0003g0028	7	384	0.0182	18	c.510 others(37): Show c.5100+1100_5100+1101insTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53873247	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0381 a0004c0008t0001g0381	1	384	0.0026	18	c.510 others(37): Show c.5100+1091_5100+1092insCTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	43/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0197 a0001c0007t0006g0197	1	384	0.0026	18	c.481 others(35): Show c.4816-979_4816-962dupAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0271 a0003c0004t0001g0271	1	384	0.0026	18	c.958 others(33): Show c.958-633_958-616dupTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53940952	C C	CATATTTA others(11): Show CATATTTAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0179 a0001c0007t0001g0179	1	384	0.0026	18	c.501 others(33): Show c.501-953_501-952insATATATATATTTAAATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133555	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp1 HG02055.hp1 HG02723.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0057 a0001c0006t0001 a0001c0006t0057	a0001c0006t0001g0215 a0001c0006t0057g0214 a0001c0006t0001g0215 a0001c0006t0057g0214	2	326	0.0061	18	c.366 others(35): Show c.366-1551_366-1550insATATATATATATATATAT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMF1_chr20_1113602_1177246	1133555	G G	GTGTGTAT others(11): Show GTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	326	0.0031	18	c.366 others(35): Show c.366-1565_366-1564insGTGTATATATATATATAT	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(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02074.hp2 HG02559.hp1 others(1): Show HG01891.hp1 HG02074.hp2 HG02559.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0005 a0001c0006t0001 a0001c0001t0001 a0001c0001t0005 a0001c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0222 a0001c0001t0005g0212 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0222 a0001c0001t0005g0212 a0001c0006t0001g0017	4	326	0.0123	18	c.366 others(35): Show c.366-1551_366-1550insATATATATATATATATTT	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(11): Show ATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02165.hp2 HG00323.hp1 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0063 a0001c0001t0005 a0001c0001t0063	a0001c0001t0005g0213 a0001c0001t0063g0188 a0001c0001t0005g0213 a0001c0001t0063g0188	2	326	0.0061	18	c.366 others(35): Show c.366-1551_366-1550insATATATATATATATTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar

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