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
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(28): Show ATATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0231 a0001c0002t0002g0231	1	256	0.0039	35	c.-81 others(44): Show c.-815_-814insTATATATATATATATATATATATTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(28): Show ATATATATATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0222	1	256	0.0039	35	c.-81 others(44): Show c.-815_-814insTATATATATATATATATATTTTTTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636569	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0128 a0001c0009t0002g0128	1	256	0.0039	35	c.-81 others(44): Show c.-814_-813insATATATATATATATATATATATATATATATATATA	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		690		chr2	TogoVar
PLEKHM2_chr1_15679320_15739769	15679425	T T	TGTCTTTT others(28): Show TGTCTTTTGTCCTTTAACTTCCATGGCCAGCTAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0126 a0001c0001t0007g0126	1	336	0.0030	35	c.-51 others(46): Show c.-5134_-5133insGTCTTTTGTCCTTTAACTTCCATGGCCAGCTAAA A	PLEKHM2	ENSG00000116786.13	transcript	ENST00000375799.8	protein_coding		4894		chr1	TogoVar
PLEK_chr2_68360282_68402453	68402116	G G	GGGCCTCC others(28): Show GGGCCTCCCCTTGTGGGTAACCCAACCTTTCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0144 a0005c0006t0001g0144	1	374	0.0027	35	c.63 others(46): Show c.6300_*6301insGGCCTCCCCTTGTGGGTAACCCAACCTTTCTCTC T	PLEK	ENSG00000115956.10	transcript	ENST00000234313.8	protein_coding		4664		chr2	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(28): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0302 a0001c0008t0001g0302	1	384	0.0026	35	c.212 others(54): Show c.2126-3746_2126-3745insGAGAGAGAGAGAGAGAAGAAAGAAAG AAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	35	c.-24 others(46): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	384	0.0026	35	c.-24 others(46): Show c.-2481_-2480insAAAAAAAAAAAAAAAATATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	35	c.-24 others(46): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02074.hp1 HG00558.hp2 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0004 a0001c0001t0001g0005	2	384	0.0052	35	c.-24 others(46): Show c.-2481_-2480insAAAAAAAAAATATATATATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	35	c.-24 others(46): Show c.-2481_-2480insAAAAAAAATATATATATATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	384	0.0026	35	c.-24 others(46): Show c.-2481_-2480insAATATATATATATATATATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	384	0.0026	35	c.-24 others(46): Show c.-2481_-2480insTATATATATATATATATATATATATATATATATA T	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK4_chr4_127875893_127904224	127888177	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	364	0.0028	35	c.145 others(52): Show c.1459+682_1459+716dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLOD1_chr1_11929717_11980537	11967597	G G	GTATATAT others(28): Show GTATATATATATATAATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	380	0.0026	35	c.175 others(52): Show c.1755+520_1755+521insATATATATATATATATATATATATATAT ATATATA	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLOD1_chr1_11929717_11980537	11969109	G G	GCCTCCTG others(28): Show GCCTCCTGGGTTCAAGTGATTCACCTGCCTCAGCCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG04228.hp2 NA18948.hp1 others(5): Show HG02083.hp1 HG04228.hp2 NA18948.hp1 NA18952.hp1 NA18967.hp1 NA18990.hp1 NA18994.hp1 NA19090.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0093 a0001c0008t0002g0094 a0001c0008t0002g0175 others(5): Show a0001c0008t0002g0093 a0001c0008t0002g0094 a0001c0008t0002g0175 a0001c0008t0002g0221 a0001c0008t0002g0222 a0001c0008t0002g0223 a0001c0008t0002g0224 a0001c0008t0002g0225	8	380	0.0211	35	c.175 others(54): Show c.1756-1558_1756-1557insCCTGGGTTCAAGTGATTCACCTGCCT CAGCCTCCT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(28): Show AAGAAAGAAAGAAGGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	336	0.0030	35	c.140 others(54): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCCTTC TTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557000	A A	AAGAAAGA others(28): Show AAGAAAGAAGGAAAGAAAGAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	336	0.0030	35	c.140 others(54): Show c.140-19889_140-19888insCTTTCTTTCTTTTCTTTCTTTCTTTC CTTCTTTCT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01884.hp1 HG01975.hp1 others(1): Show HG00323.hp1 HG01884.hp1 HG01975.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0044 a0001c0001t0002g0108 a0001c0001t0002g0118 others(1): Show a0001c0001t0002g0044 a0001c0001t0002g0108 a0001c0001t0002g0118 a0001c0001t0004g0090	4	203	0.0197	35	c.814 others(50): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17382272	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	436	0.0023	35	c.-49 others(46): Show c.-4985_-4984insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4931		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG02004.hp1 others(5): Show HG00597.hp1 HG00597.hp2 HG02004.hp1 HG02273.hp2 HG03017.hp1 HG03017.hp2 NA18952.hp2 NA18964.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0254 a0001c0001t0001g0301 a0001c0001t0001g0333 others(5): Show a0001c0001t0001g0254 a0001c0001t0001g0301 a0001c0001t0001g0333 a0001c0001t0001g0377 a0001c0001t0001g0390 a0001c0001t0003g0344 a0001c0001t0005g0246 a0002c0002t0001g0001	8	436	0.0184	35	c.-49 others(46): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLXNA4_chr7_132118340_132581470	132151577	A A	AAGGAGGA others(28): Show AAGGAGGAGGAGGAGAAAGGAGGAGGAGGAGAAAGG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02965.hp1 NA19043.hp2 others(2): Show HG02717.hp1 HG02965.hp1 NA19043.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0006 a0001c0017 others(2): Show a0001c0004 a0001c0006 a0001c0017 a0001c0018 a0001c0022	a0001c0004t0021 a0001c0006t0003 a0001c0017t0003 others(2): Show a0001c0004t0021 a0001c0006t0003 a0001c0017t0003 a0001c0018t0020 a0001c0022t0022	a0001c0004t0021g0039 a0001c0006t0003g0035 a0001c0017t0003g0088 others(2): Show a0001c0004t0021g0039 a0001c0006t0003g0035 a0001c0017t0003g0088 a0001c0018t0020g0036 a0001c0022t0022g0081	5	88	0.0568	35	c.466 others(54): Show c.4661-2932_4661-2931insCCTTTCTCCTCCTCCTCCTTTCTCCT CCTCCTCCT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94144363	C C	CATGCTAT others(28): Show CATGCTATGCTATGCTATGCTATGCTATGCTATGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0147 a0001c0003t0001g0147	1	298	0.0034	35	c.-46 others(46): Show c.-4609_-4608insATGCTATGCTATGCTATGCTATGCTATGCTATGC T	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding		4213		chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94265492	A A	ACTTTCAG others(28): Show ACTTTCAGTGTCGTCAAAGGAAATGCAAAGTACTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0123 a0001c0003t0001g0123	1	298	0.0034	35	c.359 others(52): Show c.3597+270_3597+304dupTTCAGTGTCGTCAAAGGAAATGCAAAGT ACTCCCT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01358.hp1 HG01168.hp1 HG01358.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0138 a0002c0001t0002g0192 a0001c0002t0002g0138 a0002c0001t0002g0192	2	416	0.0048	35	c.-33 others(46): Show c.-3365_-3364insATATATATATATATATATATATATATATATATAT A	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PM20D2_chr6_89141055_89170565	89141977	A A	ATTTATTT others(28): Show ATTTATTTTATTTTATTTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG02293.hp1 NA18946.hp2 others(1): Show HG01168.hp1 HG02293.hp1 NA18946.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0016 a0001c0001t0003g0002 a0001c0001t0003g0016	4	372	0.0108	35	c.-41 others(46): Show c.-4168_-4167insTTTATTTTATTTTATTTTATTTTATTTTATTTTA T	PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding		4077		chr6	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(28): Show GGGTGGGGGGGTGGGGGGGTGGGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	330	0.0030	35	c.-45 others(46): Show c.-4531_-4530insGCCCCCCCACCCCCCCACCCCCCCACCCCCCCAC C	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864687	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	234	0.0043	35	c.234 others(52): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 NA18989.hp2 NA19074.hp1 HG03471.hp2 NA18989.hp2 NA19074.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0020 a0001c0003 a0003c0020	a0001c0003t0021 a0003c0020t0054 a0001c0003t0021 a0003c0020t0054	a0001c0003t0021g0084 a0001c0003t0021g0116 a0003c0020t0054g0366 a0001c0003t0021g0084 a0001c0003t0021g0116 a0003c0020t0054g0366	3	408	0.0074	35	c.-95 others(44): Show c.-956_-955insATATATATATATATATATATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG03139.hp2 HG01433.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0087 a0001c0003t0001g0009 a0001c0003t0001g0087	2	408	0.0049	35	c.-95 others(44): Show c.-956_-955insATATATATATATATATATATATATATATTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	408	0.0025	35	c.-95 others(44): Show c.-956_-955insATATATATATATATATATATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(28): Show AAATATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02300.hp1 NA19057.hp2 HG00621.hp2 HG02300.hp1 NA19057.hp2	a0003 a0022 a0003 a0022	a0003c0004 a0022c0032 a0003c0004 a0022c0032	a0003c0004t0004 a0022c0032t0003 a0003c0004t0004 a0022c0032t0003	a0003c0004t0004g0012 a0003c0004t0004g0362 a0022c0032t0003g0325 a0003c0004t0004g0012 a0003c0004t0004g0362 a0022c0032t0003g0325	3	408	0.0074	35	c.-95 others(44): Show c.-956_-955insATATATATATATATATATATATATATATGTATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	G G	GAAAATAA others(28): Show GAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01993.hp1 HG02683.hp1 others(3): Show HG00323.hp2 HG01993.hp1 HG02683.hp1 HG03491.hp1 HG03492.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0107 a0001c0002t0001g0025 a0001c0002t0001g0029 others(1): Show a0001c0001t0001g0107 a0001c0002t0001g0025 a0001c0002t0001g0029 a0001c0002t0001g0152	6	420	0.0143	35	c.815 others(50): Show c.815-781_815-747dupTAAAATAAAATAAAATAAAATAAAATAAAA TAAAA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNMA6E_chrX_153390639_153406350	153390752	A A	ACTCACAC others(28): Show ACTCACACACCACACACCATGCACACCACGCACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp1 HG02895.hp1 HG02897.hp2 HG03453.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0023c0016 a0001c0001 a0023c0016	a0001c0001t0001 a0023c0016t0001 a0001c0001t0001 a0023c0016t0001	a0001c0001t0001g0062 a0001c0001t0001g0076 a0023c0016t0001g0075 a0001c0001t0001g0062 a0001c0001t0001g0076 a0023c0016t0001g0075	3	346	0.0087	35	c.61 others(46): Show c.6153_*6154insAGTGTGCGTGGTGTGCATGGTGTGTGGTGTGTGA G	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4886		chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	454	0.0022	35	c.-20 others(46): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330362	C C	CTTTATTT others(28): Show CTTTATTTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0201 a0001c0001t0003g0201	1	424	0.0024	35	c.126 others(52): Show c.126+1083_126+1117dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(28): Show ATTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	424	0.0024	35	c.126 others(52): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282090	A A	AAAGAAAG others(28): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0235	1	386	0.0026	35	c.206 others(52): Show c.206-9229_206-9228insAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137518679	T T	TCCCCCAC others(28): Show TCCCCCACTCACTCACTCCACTCTGTCCACTCCATC	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG03017.hp2 HG03041.hp2 others(1): Show HG02683.hp1 HG03017.hp2 HG03041.hp2 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0039 a0001c0002 a0001c0012 a0001c0039	a0001c0002t0001 a0001c0012t0001 a0001c0039t0001 a0001c0002t0001 a0001c0012t0001 a0001c0039t0001	a0001c0002t0001g0009 a0001c0012t0001g0008 a0001c0012t0001g0037 others(1): Show a0001c0002t0001g0009 a0001c0012t0001g0008 a0001c0012t0001g0037 a0001c0039t0001g0007	4	188	0.0213	35	c.108 others(54): Show c.1084+1237_1084+1238insGATGGAGTGGACAGAGTGGAGTGAGT GAGTGGGGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0005 a0005	a0005c0029 a0005c0029	a0005c0029t0001 a0005c0029t0001	a0005c0029t0001g0051 a0005c0029t0001g0051	1	440	0.0023	35	c.-21 others(46): Show c.-2120_-2119insAAAAAAATATATATATATATATATATATATATAT A	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0017 a0017	a0017c0028 a0017c0028	a0017c0028t0029 a0017c0028t0029	a0017c0028t0029g0050 a0017c0028t0029g0050	1	440	0.0023	35	c.-21 others(46): Show c.-2120_-2119insAAAAAAAAAAATATATATATATATATATATATAT A	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POLB_chr8_42333494_42376808	42347291	T T	TCCTCAGT others(28): Show TCCTCAGTAATTCTAGAAATTATTCTAGAATTACTC	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	314	0.0032	35	c.187 others(52): Show c.187-1723_187-1689dupCTCAGTAATTCTAGAAATTATTCTAGAA TTACTCC	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLK_chr5_75506891_75614991	75612322	C C	CCCCCGCC others(28): Show CCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01358.hp1 HG01516.hp1 others(9): Show HG01123.hp1 HG01358.hp1 HG01516.hp1 HG02602.hp1 HG02698.hp1 HG02735.hp1 HG03486.hp2 HG03688.hp2 NA18747.hp2 NA18942.hp2 NA18975.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0004 a0001c0002t0027 a0001c0002t0117 others(7): Show a0001c0002t0004 a0001c0002t0027 a0001c0002t0117 a0001c0002t0120 a0001c0002t0122 a0001c0002t0123 a0001c0002t0126 a0001c0002t0127 a0003c0006t0124 a0003c0006t0125	a0001c0002t0004g0314 a0001c0002t0004g0333 a0001c0002t0027g0322 others(9): Show a0001c0002t0004g0314 a0001c0002t0004g0333 a0001c0002t0027g0322 a0001c0002t0027g0332 a0001c0002t0117g0330 a0001c0002t0120g0329 a0001c0002t0122g0334 a0001c0002t0123g0325 a0001c0002t0126g0321 a0001c0002t0127g0324 a0003c0006t0124g0337 a0003c0006t0125g0338	12	356	0.0337	35	c.14 others(48): Show c.14304_*14305insCCCCGCCCTCCGCCCCGCCCCCGCCCTCCGCC CCG	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding		2332		chr5	TogoVar
POLR1D_chr13_27616892_27628449	27625161	A A	AGAGAAGC others(28): Show AGAGAAGCCTGTCCTCTGGAGTCCATGGAGAAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	438	0.0023	35	c.19 others(46): Show c.1911_*1912insGAGAAGCCTGTCCTCTGGAGTCCATGGAGAAGAT G	POLR1D	ENSG00000186184.20	transcript	ENST00000302979.5	protein_coding		1713		chr13	TogoVar
POLR2M_chr15_57701714_57722557	57710420	G G	GAAAACCT others(28): Show GAAAACCTCTAGTGAAAAGTATCTAAAACATGCTTC	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	404	0.0025	35	c.758 others(52): Show c.758+1063_758+1097dupAAAACCTCTAGTGAAAAGTATCTAAAAC ATGCTTC	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3A_chr10_77970149_78034515	78029723	C C	CCACGTAA others(28): Show CCACGTAATCAGACACCCGCAGAGAAACTGCATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	374	0.0027	35	c.-31 others(44): Show c.-317_-316insTATATGCAGTTTCTCTGCGGGTGTCTGATTACGTG	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		209		chr10	TogoVar
POLR3B_chr12_106352748_106515198	106479796	C C	CTTCTTTT others(28): Show CTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	304	0.0033	35	c.271 others(56): Show c.2713+16209_2713+16210insTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTC	POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3C_chr1_145819200_145849402	145842809	A A	AGATAGAT others(28): Show AGATAGATAGATAGATAGATAGATAGATAGATAGAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp1 HG02572.hp2 HG02809.hp2 others(2): Show HG02055.hp1 HG02572.hp2 HG02809.hp2 NA18522.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0011 a0001c0001t0028 a0001c0001t0033 others(1): Show a0001c0001t0011 a0001c0001t0028 a0001c0001t0033 a0004c0004t0011	a0001c0001t0011g0008 a0001c0001t0011g0051 a0001c0001t0028g0060 others(2): Show a0001c0001t0011g0008 a0001c0001t0011g0051 a0001c0001t0028g0060 a0001c0001t0033g0058 a0004c0004t0011g0028	5	368	0.0136	35	c.39 others(44): Show c.397_*398insGATAGATAGATAGATAGATAGATAGATGATAGATA	POLR3C	ENSG00000186141.10	transcript	ENST00000334163.4	protein_coding	15/15	398	INFO_REALIGN_3_PRIME	chr1	TogoVar
POLR3E_chr16_22292409_22340096	22300563	G G	GCAGAGAA others(28): Show GCAGAGAAGGCAGGAGCTTGACATCTGCCCAGCTGC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0070 a0001c0001t0003g0070	1	358	0.0028	35	c.-38 others(52): Show c.-38-2345_-38-2344insCTGCCCAGCTGCCAGAGAAGGCAGGAGC TTGACAT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLRMT_chr19_612221_638537	614028	G G	GGGGGCGT others(28): Show GGGGGCGTGGCCGGGGCGGGTGCCCTGGCGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0018 a0018	a0018c0032 a0018c0032	a0018c0032t0009 a0018c0032t0009	a0018c0032t0009g0172 a0018c0032t0009g0172	1	422	0.0024	35	c.32 others(46): Show c.3245_*3246insTCCCCCCGCCAGGGCACCCGCCCCGGCCACGCCC C	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3192		chr19	TogoVar

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