Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp2 HG01106.hp2 others(1): Show HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01934.hp2	a0001 a0018 a0001 a0018	a0001c0001 a0018c0030 a0001c0001 a0018c0030	a0001c0001t0001 a0001c0001t0017 a0018c0030t0001 a0001c0001t0001 a0001c0001t0017 a0018c0030t0001	a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0017g0008 others(1): Show a0001c0001t0001g0070 a0001c0001t0001g0101 a0001c0001t0017g0008 a0018c0030t0001g0009	4	216	0.0185	25	c.-51 others(42): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	216	0.0046	25	c.112 others(42): Show c.1120+742_1120+766dupAAAAAAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569572	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0179 a0004c0004t0001g0179	1	336	0.0030	25	c.665 others(44): Show c.6651+1233_6651+1234insATATATATATATATATATATATATA	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34			chr1	TogoVar
PRRC2C_chr1_171480530_171598511	171586543	G G	GTATTTTA others(18): Show GTATTTTATTTTATTTTATTTTATTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01256.hp1 NA19030.hp1 HG00408.hp1 HG01256.hp1 NA19030.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0001 a0001c0001t0001 a0004c0004t0001	a0001c0001t0001g0185 a0004c0004t0001g0015 a0004c0004t0001g0076 a0001c0001t0001g0185 a0004c0004t0001g0015 a0004c0004t0001g0076	3	336	0.0089	25	c.775 others(42): Show c.7750-428_7750-404dupATTTTATTTTATTTTATTTTATTTT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37450992	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03669.hp1 NA18906.hp2 HG03139.hp1 HG03669.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0005g0067 a0001c0001t0002g0070 a0001c0001t0002g0073 a0001c0001t0005g0067	3	216	0.0139	25	c.172 others(42): Show c.172-2126_172-2102dupTTGTTTTGTTTTGTTTTGTTTTGTT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	3/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRT2_chr16_29807193_29820881	29815724	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0001 a0001c0001t0026g0001	1	322	0.0031	25	c.10 others(36): Show c.1089_*1113dupAAAAAAAAAAAAAAAAAAAAAAAAA	PRRT2	ENSG00000167371.21	transcript	ENST00000358758.12	protein_coding	4/4	1114	INFO_REALIGN_3_PRIME	chr16	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00741.hp2 HG00735.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0078 a0001c0001t0001g0053 a0001c0001t0001g0078	2	356	0.0056	25	c.-13 others(34): Show c.-131_-130insTCTCTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01496.hp1 HG01516.hp2 others(4): Show HG01346.hp1 HG01496.hp1 HG01516.hp2 HG02922.hp2 HG02965.hp2 HG04115.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0057 a0001c0001t0001g0107 a0001c0001t0001g0111 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0006g0013 a0001c0001t0014g0042	7	356	0.0197	25	c.241 others(42): Show c.241+4971_241+4995dupAAAAAAAAAAAAAAAAAAAAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRX1_chr1_170659131_170744421	170691441	A A	ATTTCCTT others(18): Show ATTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	356	0.0028	25	c.241 others(44): Show c.241+27030_241+27054dupTCCTTTCCTTTCCTTTCCTTTCCTT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS22_chr16_2847730_2863170	2857248	C C	CAGTGAGG others(18): Show CAGTGAGGAGGGGTCCCCCAGCGCCT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	412	0.0024	25	c.83- others(38): Show c.83-401_83-400insAGGCGCTGGGGGACCCCTCCTCACT	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding	1/5			chr16	TogoVar
PRSS22_chr16_2847730_2863170	2857261	T T	TCCCCAGC others(18): Show TCCCCAGCGCCTAGTGAGGAGGGGTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	412	0.0024	25	c.83- others(38): Show c.83-414_83-413insGACCCCTCCTCACTAGGCGCTGGGG	PRSS22	ENSG00000005001.10	transcript	ENST00000161006.8	protein_coding	1/5			chr16	TogoVar
PRSS55_chr8_10520532_10543819	10543472	C C	CTTTCTTT others(18): Show CTTTCTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01256.hp2 HG01258.hp1 others(2): Show HG00639.hp2 HG01256.hp2 HG01258.hp1 HG01358.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0011 a0004c0008t0001g0011	5	480	0.0104	25	c.46 others(36): Show c.4679_*4680insTTTCTTTTCTTTTCTTTTCTTTTCT	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4654		chr8	TogoVar
PRSS57_chr19_680546_700452	688536	C C	CGGGTCTG others(18): Show CGGGTCTGCATGGATGCACCACGTGT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	442	0.0023	25	c.379 others(42): Show c.379-1373_379-1349dupACACGTGGTGCATCCATGCAGACCC	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4			chr19	TogoVar
PRTFDC1_chr10_24843614_24957606	24880813	C C	CTCTTTCT others(18): Show CTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18984.hp2 NA19002.hp1 others(2): Show NA18522.hp2 NA18984.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0120 a0001c0001t0004g0143 a0001c0001t0004g0241 others(2): Show a0001c0001t0004g0120 a0001c0001t0004g0143 a0001c0001t0004g0241 a0001c0001t0004g0255 a0001c0001t0004g0288	5	338	0.0148	25	c.340 others(42): Show c.340-8775_340-8751dupAAAGAAAGAAAGAAAGAAAGAAAGA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTFDC1_chr10_24843614_24957606	24880813	C C	CTCTTTCT others(18): Show CTCTTTCTTTCTTTCTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19084.hp1 NA19056.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0108 a0001c0001t0004g0254 a0001c0001t0004g0108 a0001c0001t0004g0254	2	338	0.0059	25	c.340 others(42): Show c.340-8751_340-8750insAAGAAAAGAAAGAAAGAAAGAAAGA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01106.hp1 HG01167.hp1 others(11): Show HG00140.hp1 HG01106.hp1 HG01167.hp1 HG01515.hp2 HG01978.hp2 HG01981.hp2 HG02698.hp2 HG03453.hp1 HG03486.hp2 HG03492.hp2 HG03710.hp1 NA18994.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0012 a0001 a0012	a0001c0001 a0001c0008 a0012c0017 a0001c0001 a0001c0008 a0012c0017	a0001c0001t0002 a0001c0001t0004 a0001c0001t0043 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0043 a0001c0008t0038 a0012c0017t0002	a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 others(11): Show a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0271 a0001c0001t0002g0277 a0001c0001t0004g0244 a0001c0001t0004g0253 a0001c0001t0004g0259 a0001c0001t0004g0263 a0001c0001t0004g0281 a0001c0001t0043g0272 a0001c0008t0038g0209 a0001c0008t0038g0210 a0012c0017t0002g0254	14	284	0.0493	25	c.204 others(44): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55659927	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0033 a0011c0019t0051 a0001c0001t0033 a0011c0019t0051	a0001c0001t0033g0098 a0011c0019t0051g0003 a0001c0001t0033g0098 a0011c0019t0051g0003	2	284	0.0070	25	c.204 others(46): Show c.2041+12493_2041+12517dupGTTTTGTTTTGTTTTGTTTTGTTT T	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTN3_chr19_835999_853175	842413	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19240.hp2 HG02055.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0083 a0002c0002t0001g0084	2	415	0.0048	25	c.62- others(40): Show c.62-1024_62-1023insTTTTTTTTTTTTTTTTTTTTTTTTT	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76714223	C C	CTGGGAGA others(18): Show CTGGGAGATTTTTAAAAGAGCTGTGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02257.hp2 NA18522.hp1 others(9): Show HG02071.hp1 HG02257.hp2 NA18522.hp1 NA18942.hp1 NA18950.hp2 NA18955.hp2 NA18956.hp1 NA18981.hp1 NA18989.hp1 NA19003.hp1 NA19007.hp2 NA19068.hp1	a0006 a0010 a0016 others(1): Show a0006 a0010 a0016 a0035	a0006c0007 a0010c0013 a0016c0017 others(1): Show a0006c0007 a0010c0013 a0016c0017 a0035c0027	a0006c0007t0001 a0010c0013t0001 a0010c0013t0002 others(3): Show a0006c0007t0001 a0010c0013t0001 a0010c0013t0002 a0016c0017t0005 a0016c0017t0009 a0035c0027t0003	a0006c0007t0001g0020 a0006c0007t0001g0037 a0006c0007t0001g0052 others(9): Show a0006c0007t0001g0020 a0006c0007t0001g0037 a0006c0007t0001g0052 a0006c0007t0001g0068 a0006c0007t0001g0077 a0006c0007t0001g0121 a0010c0013t0001g0041 a0010c0013t0001g0061 a0010c0013t0002g0123 a0016c0017t0005g0010 a0016c0017t0009g0175 a0035c0027t0003g0210	12	240	0.0500	25	c.757 others(40): Show c.757-527_757-503dupTCACAGCTCTTTTAAAAATCTCCCA	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TATTTATT others(18): Show TATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 HG02809.hp2 others(4): Show HG02258.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 NA18522.hp2	a0003 a0006 a0009 others(3): Show a0003 a0006 a0009 a0015 a0017 a0042	a0003c0003 a0003c0054 a0006c0009 others(4): Show a0003c0003 a0003c0054 a0006c0009 a0009c0010 a0015c0021 a0017c0016 a0042c0037	a0003c0003t0001 a0003c0054t0005 a0006c0009t0001 others(4): Show a0003c0003t0001 a0003c0054t0005 a0006c0009t0001 a0009c0010t0014 a0015c0021t0002 a0017c0016t0012 a0042c0037t0008	a0003c0003t0001g0096 a0003c0054t0005g0119 a0006c0009t0001g0184 others(4): Show a0003c0003t0001g0096 a0003c0054t0005g0119 a0006c0009t0001g0184 a0009c0010t0014g0130 a0015c0021t0002g0172 a0017c0016t0012g0001 a0042c0037t0008g0008	7	240	0.0292	25	c.756 others(44): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAATAAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CATATATA others(18): Show CATATATATATATAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0157 a0001c0001t0042g0157	1	300	0.0033	25	c.-18 others(36): Show c.-1889_-1888insATATATATATATAATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406757	C C	CTTATATA others(18): Show CTTATATATCATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01358.hp2 HG01981.hp2 others(3): Show HG00140.hp1 HG01358.hp2 HG01981.hp2 HG01993.hp2 HG02735.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0066 a0001c0001t0003g0005 a0001c0001t0003g0015 a0001c0001t0003g0066	6	300	0.0200	25	c.-18 others(36): Show c.-1889_-1888insTTATATATCATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1793		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406789	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	300	0.0033	25	c.-18 others(36): Show c.-1857_-1856insATATATATATATATATATATATATA	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1761		chr10	TogoVar
PRXL2A_chr10_80403551_80442115	80406790	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp2 HG02056.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0001 a0001c0001t0020	a0001c0001t0001g0137 a0001c0001t0020g0004 a0001c0001t0001g0137 a0001c0001t0020g0004	2	300	0.0067	25	c.-18 others(36): Show c.-1856_-1855insTATATATATATATATATATATATAT	PRXL2A	ENSG00000122378.14	transcript	ENST00000606162.6	protein_coding		1760		chr10	TogoVar
PRX_chr19_40388768_40418378	40418190	T T	TTTTTCTT others(18): Show TTTTTCTTTTCTTTTCTTTTCTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	306	0.0033	25	c.-50 others(36): Show c.-5096_-5095insGAAAAGAAAAGAAAAGAAAAGAAAA	PRX	ENSG00000105227.16	transcript	ENST00000324001.8	protein_coding		4813		chr19	TogoVar
PSD3_chr8_18522303_19018703	18755429	C C	CAACATAA others(18): Show CAACATAACATAACATAACATAACAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0039 a0001c0002t0010g0039	1	228	0.0044	25	c.217 others(45): Show c.2172+9995_2172+10019dupATGTTATGTTATGTTATGTTATGTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184116	A A	AGTAGGAG others(18): Show AGTAGGAGCGGCCGGGCAGAGGCGCC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0358 a0001c0001t0002g0358	1	378	0.0027	25	c.481 others(42): Show c.481-2737_481-2736insGTAGGAGCGGCCGGGCAGAGGCGCC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11			chr14	TogoVar
PSG5_chr19_43162743_43191536	43182705	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03688.hp1 HG04204.hp2 others(11): Show HG02683.hp2 HG03688.hp1 HG04204.hp2 NA18747.hp2 NA18943.hp2 NA18949.hp2 NA18950.hp2 NA18960.hp1 NA18991.hp1 NA19001.hp2 NA19009.hp2 NA19060.hp2 NA19062.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0109 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0042 a0001c0001t0001g0109 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0006g0132	14	430	0.0326	25	c.430 others(42): Show c.430+2076_430+2077insAAAAAAAAAAAAAAAAAAAAAAAAA	PSG5	ENSG00000204941.14	transcript	ENST00000342951.11	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(18): Show ATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	416	0.0024	25	c.430 others(42): Show c.430+2096_430+2097insAAATATATATATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0075 a0001c0002t0002g0075	1	416	0.0024	25	c.430 others(42): Show c.430+2096_430+2097insAAAAAAAAAAATATATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933307	A A	ATATATAT others(18): Show ATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0090 a0001c0002t0002g0090	1	416	0.0024	25	c.430 others(42): Show c.430+2096_430+2097insAAAAAAAAAAAAAAATATATATATA	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSG7_chr19_42919132_42942207	42933308	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0330 a0002c0003t0003g0330	1	416	0.0024	25	c.430 others(42): Show c.430+2095_430+2096insTATATATATATATATATATATATAT	PSG7	ENSG00000221878.13	transcript	ENST00000406070.7	protein_coding	2/5			chr19	TogoVar
PSMB2_chr1_35594541_35646526	35628596	A A	AAAAAAAA others(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0013 a0001c0001t0004g0013	1	300	0.0033	25	c.285 others(42): Show c.285+2677_285+2678insATATATATATATATATTTTTTTTTT	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	3/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640052	G G	GTACTATA others(18): Show GTACTATACTATACTATACTATACTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	300	0.0033	25	c.91+ others(40): Show c.91+1289_91+1290insTAGTATAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(18): Show ATACTATACTATACTATACTGTACTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02083.hp1 HG02135.hp1 others(5): Show HG00423.hp2 HG02083.hp1 HG02135.hp1 HG02451.hp2 NA18992.hp1 NA18995.hp2 NA19009.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0021 a0001c0001t0008 a0001c0001t0018 a0001c0001t0021	a0001c0001t0008g0248 a0001c0001t0008g0250 a0001c0001t0008g0252 others(5): Show a0001c0001t0008g0248 a0001c0001t0008g0250 a0001c0001t0008g0252 a0001c0001t0008g0253 a0001c0001t0008g0254 a0001c0001t0018g0249 a0001c0001t0018g0251 a0001c0001t0021g0010	8	300	0.0267	25	c.91+ others(40): Show c.91+1254_91+1255insCAGTACAGTATAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMB2_chr1_35594541_35646526	35640087	A A	ATACTATA others(18): Show ATACTATACTATACTGTACTGTACTG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0242 a0001c0001t0034g0242	1	300	0.0033	25	c.91+ others(40): Show c.91+1254_91+1255insCAGTACAGTACAGTATAGTATAGTA	PSMB2	ENSG00000126067.12	transcript	ENST00000373237.4	protein_coding	1/5			chr1	TogoVar
PSMD13_chr11_231976_257984	234403	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03225.hp2 HG01891.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0072 a0001c0001t0002g0073	2	450	0.0044	25	c.-26 others(36): Show c.-2647_-2646insTTTTGTTTTGTTTTGTTTTGTTTTG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding		2572		chr11	TogoVar
PSMD13_chr11_231976_257984	249547	A A	AGGGGGAG others(18): Show AGGGGGAGAGCGGCGGGTGCGGGGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	450	0.0022	25	c.774 others(40): Show c.774+495_774+519dupGAGAGCGGCGGGTGCGGGGAGGGGG	PSMD13	ENSG00000185627.19	transcript	ENST00000532097.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PSMD14_chr2_161303425_161416717	161357076	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG04115.hp2 HG03209.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0258 a0001c0001t0001g0007 a0001c0001t0001g0258	2	268	0.0075	25	c.49- others(42): Show c.49-10390_49-10389insTTTTTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTGT others(18): Show GTTGTTGTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18988.hp1 HG03130.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0129 a0001c0001t0002g0031 a0001c0001t0001g0129 a0001c0001t0002g0031	2	268	0.0075	25	c.571 others(42): Show c.571-1213_571-1212insGTTGTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD14_chr2_161303425_161416717	161389889	G G	GTTGTTTT others(18): Show GTTGTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18950.hp2 NA19057.hp2 others(1): Show HG02074.hp2 NA18950.hp2 NA19057.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0100 others(1): Show a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0100 a0001c0001t0002g0103	4	268	0.0149	25	c.571 others(42): Show c.571-1213_571-1212insGTTTTTTTTTTTTTTTTTTTTTTTT	PSMD14	ENSG00000115233.12	transcript	ENST00000409682.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
PSMD3_chr17_39975807_40002959	39992024	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00741.hp1 HG01192.hp1 others(17): Show HG00733.hp1 HG00741.hp1 HG01192.hp1 HG01192.hp2 HG01891.hp2 HG01978.hp2 HG03098.hp2 HG03669.hp2 HG03688.hp2 NA18522.hp2 NA18946.hp2 NA18965.hp2 NA18966.hp1 NA18999.hp1 NA19004.hp2 NA19011.hp1 NA19067.hp2 NA19084.hp2 NA19085.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0002 a0001c0012t0002 a0001c0001t0002 a0001c0012t0002	a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0038 others(11): Show a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0086 a0001c0001t0002g0105 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0187 a0001c0012t0002g0058	20	418	0.0479	25	c.981 others(42): Show c.981+1836_981+1837insAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD3	ENSG00000108344.15	transcript	ENST00000264639.9	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PSMD4_chr1_151249734_151272479	151251260	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG04184.hp2 HG04204.hp1 others(1): Show HG01934.hp2 HG04184.hp2 HG04204.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0107	4	420	0.0095	25	c.-35 others(36): Show c.-3523_-3522insAAAAAAAAAAAAAAAAAAAAAAAAA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		3473		chr1	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(18): Show TGTGTGTGTGCGCGCGCCGTGCGCGC	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	424	0.0024	25	c.703 others(40): Show c.703-169_703-168insTGCGCGCGCCGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38380723	T T	TGTGTGTG others(18): Show TGTGTGTGTGCGCGCGCGGTGCGCGC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	424	0.0024	25	c.703 others(40): Show c.703-169_703-168insTGCGCGCGCGGTGCGCGCGTGTGTG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
PSMD8_chr19_38369571_38388824	38385765	A A	AGCCGGGG others(18): Show AGCCGGGGATGGGGCCGGGGCCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	424	0.0024	25	c.23 others(36): Show c.2375_*2376insGCCGGGGATGGGGCCGGGGCCGGGG	PSMD8	ENSG00000099341.13	transcript	ENST00000215071.9	protein_coding		1942		chr19	TogoVar
PSME3IP1_chr16_57147466_57191039	57149838	C C	CTTGTCTA others(18): Show CTTGTCTAAACTCTTGTCTAAAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02717.hp2 HG03209.hp1 HG02258.hp2 HG02717.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0185 a0001c0001t0001g0034 a0001c0001t0001g0185	3	364	0.0082	25	c.44 others(36): Show c.4451_*4452insACTCTTTAGACAAGAGTTTAGACAA	PSME3IP1	ENSG00000172775.18	transcript	ENST00000309137.13	protein_coding		2627		chr16	TogoVar
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02129.hp1 HG00408.hp1 HG02129.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0329 a0001c0005t0001g0373 a0001c0005t0001g0329 a0001c0005t0001g0373	2	384	0.0052	25	c.481 others(42): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSME4_chr2_53859069_53975993	53933375	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp1 NA18995.hp1 HG02015.hp2 HG02132.hp1 NA18995.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0249 a0003c0004t0001g0298 a0003c0004t0001g0300 a0003c0004t0001g0249 a0003c0004t0001g0298 a0003c0004t0001g0300	3	384	0.0078	25	c.958 others(40): Show c.958-640_958-616dupTTTTTTTTTTTTTTTTTTTTTTTTT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	8/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0111 a0001c0001t0003g0111	1	326	0.0031	25	c.366 others(42): Show c.366-1551_366-1550insATATATATATATATATATATATATT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar

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