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
PLGRKT_chr9_5352971_5442925	5424668	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	414	0.0024	34	c.81+ others(49): Show c.81+7228_81+7229insTATATATATATATATATATATATATATATA TATA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(27): Show TATATATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18961.hp2 NA18985.hp2 others(3): Show NA18747.hp2 NA18961.hp2 NA18985.hp2 NA18986.hp2 NA19065.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0360 a0001c0001t0001g0372 others(3): Show a0001c0001t0001g0350 a0001c0001t0001g0360 a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0001t0001g0374 a0001c0001t0001g0376	6	414	0.0145	34	c.81+ others(49): Show c.81+7205_81+7206insGTGTATGTGTATATATATATATATATATAT ATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0318 a0001c0001t0001g0318	1	414	0.0024	34	c.81+ others(49): Show c.81+7205_81+7206insGTGTATATATATATATATATATATATATAT ATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748348	A A	AAGAGAAA others(27): Show AAGAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG02572.hp1 HG02809.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0300 a0001c0008t0001g0314 a0001c0008t0001g0300 a0001c0008t0001g0314	2	384	0.0052	34	c.212 others(53): Show c.2126-3746_2126-3745insGAGAGAGAGAGAGAGAGAAAGAAAGA AAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(27): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA20905.hp2 HG03831.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	2	384	0.0052	34	c.212 others(53): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44795678	T T	TATATAAA others(27): Show TATATAAATATATAAATATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	34	c.-47 others(45): Show c.-4786_-4785insATATAAATATATAAATATATATAAATATATATAA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4698		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAAATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 NA18947.hp1 HG00099.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002	2	384	0.0052	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAAAATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp2 HG02922.hp2 NA18950.hp1 HG01975.hp2 HG02922.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0001c0001t0001 a0001c0002t0001 a0001c0012t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0012t0001g0002 a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0012t0001g0002	3	384	0.0078	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAAAAAATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	34	c.-24 others(45): Show c.-2481_-2480insAAAAAAATATATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967595	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18612.hp1 NA18961.hp1 HG03486.hp1 NA18612.hp1 NA18961.hp1	a0002 a0002	a0002c0003 a0002c0010 a0002c0003 a0002c0010	a0002c0003t0001 a0002c0010t0001 a0002c0003t0001 a0002c0010t0001	a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0010t0001g0308 a0002c0003t0001g0282 a0002c0003t0001g0283 a0002c0010t0001g0308	3	380	0.0079	34	c.175 others(51): Show c.1755+505_1755+506insATATATATATATATATATATATATATAT ATATAT	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967597	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19065.hp1 NA20905.hp1 NA19009.hp2 NA19065.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0010 a0001c0002 a0001c0006 a0002c0010	a0001c0002t0001 a0001c0006t0001 a0002c0010t0001 a0001c0002t0001 a0001c0006t0001 a0002c0010t0001	a0001c0002t0001g0192 a0001c0006t0001g0240 a0002c0010t0001g0285 a0001c0002t0001g0192 a0001c0006t0001g0240 a0002c0010t0001g0285	3	380	0.0079	34	c.175 others(51): Show c.1755+524_1755+525insTATATATATATATATATATATATATATA TATATA	PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP1_chr5_55419854_55539964	55444743	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	294	0.0034	34	c.492 others(51): Show c.492-2836_492-2835insCACACACACACACACACACACACACACA CACACA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02004.hp2 NA19058.hp1 HG01346.hp1 HG02004.hp2 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0005 a0001c0003t0004 a0001c0003t0005	a0001c0003t0004g0212 a0001c0003t0005g0061 a0001c0003t0005g0213 a0001c0003t0004g0212 a0001c0003t0005g0061 a0001c0003t0005g0213	3	336	0.0089	34	c.633 others(51): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATA	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557044	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0189 a0001c0001t0003g0189	1	336	0.0030	34	c.140 others(53): Show c.140-19933_140-19932insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0318 a0001c0001t0002g0318	1	336	0.0030	34	c.140 others(53): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR5_chr1_98885245_99009861	99001671	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0253 a0001c0001t0016g0253	1	280	0.0036	34	c.237 others(51): Show c.237+2730_237+2763dupATATATATATATATATATATATATATAT ATATAT	PLPPR5	ENSG00000117598.14	transcript	ENST00000263177.5	protein_coding	1/5			chr1	TogoVar
PLSCR5_chr3_146580837_146610346	146602138	C C	CTTCCTAT others(27): Show CTTCCTATCTGAGATAAACAAGGATTATAGATCTG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	416	0.0024	34	c.14- others(49): Show c.14-1676_14-1675insCAGATCTATAATCCTTGTTTATCTCAGATA GGAA	PLSCR5	ENSG00000231213.7	transcript	ENST00000443512.2	protein_coding	1/7			chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349162	C C	CTTTCTTT others(27): Show CTTTCTTTCTTCTTTCTTTCTTTCTTTCCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0205 a0001c0001t0002g0096 a0001c0001t0001g0205 a0001c0001t0002g0096	2	436	0.0046	34	c.31 others(45): Show c.3199_*3200insAAGAAAGGAAAGAAAGAAAGAAAGAAGAAAGAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2292		chr19	TogoVar
PLXDC2_chr10_19811432_20294856	20044235	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0146 a0001c0001t0011g0146	1	180	0.0056	34	c.325 others(51): Show c.325-2632_325-2599dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20126156	T T	TATGTATG others(27): Show TATGTATGTATCTATACATATATGTTATATAATAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0024 a0001c0001t0055g0024	1	180	0.0056	34	c.542 others(53): Show c.542-17136_542-17103dupGTATGTATCTATACATATATGTTATA TAATACAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20129529	A A	ATATATAT others(27): Show ATATATATATATATACACATACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18522.hp1 NA19030.hp2 others(1): Show HG02486.hp1 NA18522.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 others(1): Show a0001c0001t0071 a0001c0001t0084 a0001c0001t0085 a0001c0001t0111	a0001c0001t0071g0074 a0001c0001t0084g0141 a0001c0001t0085g0103 others(1): Show a0001c0001t0071g0074 a0001c0001t0084g0141 a0001c0001t0085g0103 a0001c0001t0111g0049	4	180	0.0222	34	c.542 others(53): Show c.542-13756_542-13755insTATACACATACACATATATATGTGTA TATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238668	T T	TATATATA others(27): Show TATATATATGTATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18973.hp1 NA18961.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0128 a0001c0001t0012g0176 a0001c0001t0004g0128 a0001c0001t0012g0176	2	180	0.0111	34	c.131 others(53): Show c.1313-6652_1313-6651insTATACACACATATATATGTATATATA TATATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(27): Show ATATATATATATATATATATACACACATATATGTG	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0112 a0002c0002t0112	a0002c0002t0112g0035 a0002c0002t0112g0035	1	180	0.0056	34	c.131 others(53): Show c.1313-6652_1313-6651insTATATATATATATACACACATATATG TGTATATA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA1_chr3_126978115_127042389	127037467	T T	TCTCCCTG others(27): Show TCTCCCTGGGAGATGCTTCCCAGGGAAGCACGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02809.hp2 NA19030.hp2 HG01255.hp1 HG02809.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0020 a0001c0006t0001g0020	3	346	0.0087	34	c.34 others(45): Show c.3450_*3451insCTCCCTGGGAGATGCTTCCCAGGGAAGCACGGAA	PLXNA1	ENSG00000114554.12	transcript	ENST00000393409.3	protein_coding		79		chr3	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(27): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19056.hp1 HG02109.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0023 a0001c0004 a0003c0023	a0001c0004t0002 a0003c0023t0003 a0001c0004t0002 a0003c0023t0003	a0001c0004t0002g0082 a0003c0023t0003g0139 a0001c0004t0002g0082 a0003c0023t0003g0139	2	312	0.0064	34	c.137 others(51): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132151409	A A	AGGAAGGA others(27): Show AGGAAGGAGGAGGAGGAGGAAGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	88	0.0114	34	c.466 others(53): Show c.4661-2764_4661-2763insCCTCCTCCTCCTCCTTCCTCCTCCTC CTCCTTCC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	25/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132561576	T T	TCCTTCTC others(27): Show TCCTTCTCCTCCTCCTTCTCCTCCTCCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0003 a0001c0006t0007 a0001c0001t0003 a0001c0006t0007	a0001c0001t0003g0087 a0001c0006t0007g0085 a0001c0001t0003g0087 a0001c0006t0007g0085	2	88	0.0227	34	c.-87 others(53): Show c.-87+14845_-87+14846insGGAAAGGAGGAGGAGGAGAAGGAGGA GGAGAAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PM20D1_chr1_205823025_205855132	205853432	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0161 a0002c0001t0002g0161	1	416	0.0024	34	c.-33 others(45): Show c.-3361_-3360insATATATATATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3301		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01516.hp1 others(2): Show HG01168.hp2 HG01169.hp2 HG01516.hp1 NA18997.hp2 NA19010.hp1	a0002 a0004 a0002 a0004	a0002c0001 a0004c0030 a0002c0001 a0004c0030	a0002c0001t0002 a0004c0030t0002 a0002c0001t0002 a0004c0030t0002	a0002c0001t0002g0001 a0002c0001t0002g0032 a0002c0001t0002g0178 others(1): Show a0002c0001t0002g0001 a0002c0001t0002g0032 a0002c0001t0002g0178 a0004c0030t0002g0168	5	416	0.0120	34	c.-33 others(45): Show c.-3365_-3364insATATATATATATATATATATATATATATATATAT	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(27): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	234	0.0043	34	c.234 others(51): Show c.2342+460_2342+461insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	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(27): Show AAAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0072 a0001c0002t0002g0072	1	408	0.0025	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATATTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0085 a0001c0003t0001g0085	1	408	0.0025	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATATATTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(27): Show AAAATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 NA18975.hp2 NA20752.hp2 HG03704.hp2 NA18975.hp2 NA20752.hp2	a0003 a0027 a0003 a0027	a0003c0004 a0027c0041 a0003c0004 a0027c0041	a0003c0004t0004 a0027c0041t0004 a0003c0004t0004 a0027c0041t0004	a0003c0004t0004g0354 a0003c0004t0004g0361 a0027c0041t0004g0357 a0003c0004t0004g0354 a0003c0004t0004g0361 a0027c0041t0004g0357	3	408	0.0074	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATGTATATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATACA others(27): Show AATATACATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 NA19010.hp2 NA19070.hp2 HG02027.hp2 NA19010.hp2 NA19070.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0020 a0003c0004t0004 a0003c0004t0020	a0003c0004t0004g0353 a0003c0004t0004g0358 a0003c0004t0020g0352 a0003c0004t0004g0353 a0003c0004t0004g0358 a0003c0004t0020g0352	3	408	0.0074	34	c.-95 others(43): Show c.-956_-955insATATATATATATATATATATATATATATGTATAT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315038	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	280	0.0036	34	c.237 others(53): Show c.237-24744_237-24743insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(27): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG03516.hp1 others(1): Show HG02896.hp1 HG02897.hp1 HG03516.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0002t0025 a0001c0001t0002 a0001c0002t0003 a0001c0002t0025	a0001c0001t0002g0001 a0001c0002t0003g0044 a0001c0002t0025g0028 a0001c0001t0002g0001 a0001c0002t0003g0044 a0001c0002t0025g0028	4	454	0.0088	34	c.-20 others(45): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGTG others(27): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01261.hp1 HG01358.hp1 others(8): Show HG00673.hp2 HG01261.hp1 HG01358.hp1 HG01928.hp2 HG01978.hp2 HG02293.hp2 NA18942.hp2 NA18954.hp2 NA18960.hp2 NA18974.hp2 NA19091.hp1	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0006 a0005c0005 a0002c0002 a0003c0006 a0005c0005	a0002c0002t0001 a0003c0006t0001 a0005c0005t0002 a0002c0002t0001 a0003c0006t0001 a0005c0005t0002	a0002c0002t0001g0078 a0002c0002t0001g0121 a0002c0002t0001g0358 others(8): Show a0002c0002t0001g0078 a0002c0002t0001g0121 a0002c0002t0001g0358 a0002c0002t0001g0383 a0003c0006t0001g0384 a0005c0005t0002g0025 a0005c0005t0002g0174 a0005c0005t0002g0211 a0005c0005t0002g0223 a0005c0005t0002g0244 a0005c0005t0002g0357	11	386	0.0285	34	c.776 others(51): Show c.776-1682_776-1681insTGTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137511506	A A	AGGCACCC others(27): Show AGGCACCCGTTACTTAGTGGACCTTGGCCTGGCGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	188	0.0053	34	c.122 others(53): Show c.1225+3839_1225+3872dupCCGCCAGGCCAAGGTCCACTAAGTAA CGGGTGCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518704	T T	TCACTCCA others(27): Show TCACTCCATCCCCCACTCACTCACTCCACTCTGTC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01109.hp2 HG01261.hp1 others(1): Show HG00738.hp2 HG01109.hp2 HG01261.hp1 HG02723.hp1	a0001 a0016 a0001 a0016	a0001c0002 a0016c0017 a0001c0002 a0016c0017	a0001c0002t0001 a0016c0017t0004 a0001c0002t0001 a0016c0017t0004	a0001c0002t0001g0003 a0001c0002t0001g0056 a0001c0002t0001g0145 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0056 a0001c0002t0001g0145 a0016c0017t0004g0053	4	188	0.0213	34	c.108 others(53): Show c.1084+1179_1084+1212dupGACAGAGTGGAGTGAGTGAGTGGGGG ATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518760	A A	ACTCCACT others(27): Show ACTCCACTCTGCTCACTCCATCCCCCACTCACTCG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	188	0.0053	34	c.108 others(53): Show c.1084+1156_1084+1157insCGAGTGAGTGGGGGATGGAGTGAGCA GAGTGGAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518772	C C	CCACTCCA others(27): Show CCACTCCATCCCCCACTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0036 a0001c0012t0001g0036	1	188	0.0053	34	c.108 others(53): Show c.1084+1144_1084+1145insAGCAGAGTGGAGTGAGTGAGTGGGGG ATGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PODXL_chr7_131495271_131561628	131524379	C C	CACACAGA others(27): Show CACACAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	440	0.0023	34	c.101 others(53): Show c.101-12947_101-12946insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTGTGT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POLA1_chrX_24688918_25001986	24921892	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	197	0.0051	34	c.416 others(53): Show c.4165-8545_4165-8544insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTG	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	35/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42347249	G G	GGAATTAC others(27): Show GGAATTACTCCTCAGTAATTCTAGAAATTATTCTA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01192.hp1 others(25): Show HG00544.hp1 HG00673.hp1 HG01192.hp1 HG02027.hp2 HG02040.hp2 HG02109.hp1 HG02165.hp2 HG02523.hp1 HG02622.hp2 HG02630.hp2 HG02717.hp1 HG03098.hp1 HG03491.hp2 HG03492.hp1 HG04115.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp1 NA18949.hp1 NA18959.hp1 NA18968.hp2 NA18979.hp2 NA18992.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19078.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0030 others(23): Show a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0126	28	314	0.0892	34	c.187 others(51): Show c.187-1594_187-1561dupATTACTCCTCAGTAATTCTAGAAATTAT TCTAGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0211 a0001c0001t0010g0211	1	400	0.0025	34	c.220 others(51): Show c.220-2126_220-2125insATATATATATATATATATATATATATAT TTTTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01943.hp1 HG02145.hp2 others(2): Show HG01168.hp1 HG01943.hp1 HG02145.hp2 NA18972.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0004g0126 others(1): Show a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0004g0126 a0001c0002t0001g0038	5	340	0.0147	34	c.438 others(49): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLG_chr15_89311320_89339824	89311742	T T	TCACTCTC others(27): Show TCACTCTCACAAAAGAGCATAGAGCAGGTCATTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	398	0.0025	34	c.50 others(45): Show c.5008_*5009insTTAATGACCTGCTCTATGCTCTTTTGTGAGAGTG	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding		4577		chr15	TogoVar
POLG_chr15_89311320_89339824	89325263	T T	TGAGAGAG others(27): Show TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	398	0.0025	34	c.194 others(51): Show c.1949+186_1949+187insTCACTCACTCACTCACTCTCTCACTCAC TCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar

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