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
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0089 a0001c0001t0046g0089	1	200	0.0050	33	c.195 others(52): Show c.1951-4540_1951-4539insATATATATATATATATATATATATTT TTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	208022674	G G	GTCCTTCC others(26): Show GTCCTTCCCCTACTTTAAGTCTCTCCAATTTCCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	200	0.0050	33	c.-31 others(52): Show c.-319+2682_-319+2714dupGGGAAATTGGAGAGACTTAAAGTAGG GGAAGGA	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHN1_chr1_961482_980865	976970	G G	GCCAACCC others(26): Show GCCAACCCCGGGAACCGCCTCCCACTCCCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0148 a0002c0002t0029g0148	1	422	0.0024	33	c.23 others(44): Show c.2395_*2396insCCAACCCCGGGAACCGCCTCCCACTCCCCCCAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1106		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977719	C C	CCACTCCC others(26): Show CCACTCCCCGCGCAACCCCGGGAACCACCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00673.hp2 HG01975.hp2 others(12): Show HG00438.hp2 HG00673.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp2 HG02071.hp2 NA18747.hp1 NA18943.hp1 NA18966.hp2 NA18990.hp1 NA19057.hp1 NA19065.hp1 NA19085.hp2 NA19086.hp1 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0022 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0022 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0157 a0002c0002t0001g0003	15	422	0.0356	33	c.31 others(44): Show c.3144_*3145insCACTCCCCGCGCAACCCCGGGAACCACCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1855		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977719	C C	CCACTCCC others(26): Show CCACTCCCCGCGCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02135.hp2 NA19085.hp1 HG00544.hp1 HG02135.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0001 a0001c0001t0016g0037 a0001c0001t0001g0001 a0001c0001t0016g0037	3	422	0.0071	33	c.31 others(44): Show c.3144_*3145insCACTCCCCGCGCAACCCCGGGAACCGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1855		chr1	TogoVar
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(26): Show AAGAAAGAAAGAAAGAAAGAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0317 a0009c0019t0001g0317	1	384	0.0026	33	c.212 others(52): Show c.2126-3741_2126-3740insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748357	A A	AAAGAAAG others(26): Show AAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0245 a0001c0002t0009g0245	1	384	0.0026	33	c.212 others(52): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAAGAAAGAAAGAA AGAAAGA	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(26): Show AAAAAAAAAAAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	384	0.0052	33	c.-24 others(44): Show c.-2481_-2480insAAAAAAAAAAAAAAAAAAAATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	384	0.0026	33	c.-24 others(44): Show c.-2481_-2480insAAAAAAAAAAAAAATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	384	0.0026	33	c.-24 others(44): Show c.-2481_-2480insAAAAAAAAAAAATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	33	c.-24 others(44): Show c.-2481_-2480insAAAAAATATATATATATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLPBP_chr8_37757645_37784768	37779323	T T	TCAGGCAC others(26): Show TCAGGCACATGGTTTCAACAAAGCCTGGCTTTGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0177 a0001c0001t0013g0177	1	348	0.0029	33	c.12 others(44): Show c.1222_*1254dupGGCACATGGTTTCAACAAAGCCTGGCTTTGACA	PLPBP	ENSG00000147471.12	transcript	ENST00000328195.8	protein_coding	8/8	1255	INFO_REALIGN_3_PRIME	chr8	TogoVar
PLPP2_chr19_276043_296403	286662	A A	AAAAAAAG others(26): Show AAAAAAAGTCAGAGATCTGGCTGGATGTGGTGGC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	354	0.0028	33	c.482 others(48): Show c.482+779_482+811dupGCCACCACATCCAGCCAGATCTCTGACTTT TTT	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	3/5			chr19	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGC others(26): Show GGAGGGGCGGGGAGGGGAGAGGGGGGAGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	354	0.0028	33	c.-26 others(42): Show c.-269_-268insTCCTCCCTCCCCCCTCTCCCCTCCCCGCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AGGAAAGA others(26): Show AGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01358.hp2 HG03041.hp2 HG00280.hp1 HG01358.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0081 a0001c0001t0003g0132 a0001c0001t0008g0004 a0001c0001t0001g0081 a0001c0001t0003g0132 a0001c0001t0008g0004	3	336	0.0089	33	c.140 others(52): Show c.140-19897_140-19896insCTTTCTTTCTCTTTCTTTCTTTTCTT TCTTTCC	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557008	A A	AGGAAAGA others(26): Show AGGAAAGAAAGAAAGAAAAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0120 a0001c0002t0001g0120	1	336	0.0030	33	c.140 others(52): Show c.140-19897_140-19896insCTTTCTCTTTCTTTCTTTTCTTTCTT TCTTTCC	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557010	G G	GAAGGAAA others(26): Show GAAGGAAAGAAAGAAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01261.hp1 HG04184.hp1 HG00140.hp2 HG01261.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0161 a0001c0001t0003g0187 a0001c0001t0004g0020 a0001c0001t0001g0161 a0001c0001t0003g0187 a0001c0001t0004g0020	3	336	0.0089	33	c.140 others(52): Show c.140-19899_140-19898insTTCTTTCTCTTTCTTTCTTTTCTTTC TTTCCTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(26): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01884.hp1 others(2): Show HG01106.hp2 HG01109.hp2 HG01884.hp1 HG02055.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0002t0003	a0001c0001t0001g0051 a0001c0001t0002g0150 a0001c0001t0004g0090 others(2): Show a0001c0001t0001g0051 a0001c0001t0002g0150 a0001c0001t0004g0090 a0001c0001t0009g0045 a0001c0002t0003g0149	5	203	0.0246	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGAA GAAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	G G	GAGAAGGA others(26): Show GAGAAGGAGAAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02896.hp2 HG02897.hp2 others(2): Show HG01257.hp1 HG02896.hp2 HG02897.hp2 NA19005.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0008 a0001c0001t0001 a0001c0001t0018 a0001c0002t0008	a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0018g0170 others(2): Show a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0018g0170 a0001c0002t0008g0004 a0001c0002t0008g0005	5	203	0.0246	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078105	A A	AAGGAGAA others(26): Show AAGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02145.hp2 HG02040.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0168 a0001c0001t0001g0144 a0001c0001t0001g0168	2	203	0.0099	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101078106	A A	AGGAGAAG others(26): Show AGGAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	203	0.0049	33	c.-46 others(52): Show c.-46+49005_-46+49006insGAGAAGGAGAAGGAGAAGGAGAAGGA GAAGAGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLPPR1_chr9_101023727_101330135	101316616	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19043.hp2 HG02976.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0034 a0001c0001t0007g0095 a0001c0001t0002g0034 a0001c0001t0007g0095	2	203	0.0099	33	c.814 others(48): Show c.814-737_814-736insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(26): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01109.hp1 HG02040.hp1 others(5): Show HG00423.hp1 HG01109.hp1 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp1 NA18959.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0328 others(5): Show a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0328 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0001t0001g0348 a0001c0001t0001g0366 a0001c0001t0003g0288	8	436	0.0184	33	c.-49 others(44): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382309	A A	AAAGAGAA others(26): Show AAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	436	0.0023	33	c.-50 others(44): Show c.-5022_-5021insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTT	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4968		chr19	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(26): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0197 a0001c0009t0006g0197	1	312	0.0032	33	c.137 others(50): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132562020	T T	TCCTCCTC others(26): Show TCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0033 a0001c0001t0013g0033	1	88	0.0114	33	c.-87 others(52): Show c.-87+14369_-87+14401dupGAGAGGAGGAGGAAGAGGAGGAGAAG GAGGAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	416	0.0024	33	c.-33 others(44): Show c.-3365_-3364insATATATATATATATATATATATATATATATATA	PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding		3305		chr1	TogoVar
PM20D2_chr6_89141055_89170565	89141977	A A	ATTATTTA others(26): Show ATTATTTATTTTATTTTATTTTATTTTATTTTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0066 a0001c0001t0003g0066	1	372	0.0027	33	c.-41 others(44): Show c.-4168_-4167insTTATTTATTTTATTTTATTTTATTTTATTTTAT	PM20D2	ENSG00000146281.6	transcript	ENST00000275072.5	protein_coding		4077		chr6	TogoVar
PMM1_chr22_41571900_41594840	41594383	G G	GGGGTGGG others(26): Show GGGGTGGGGGAGGCGGTGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0060 a0001c0001t0002g0060	1	330	0.0030	33	c.-45 others(44): Show c.-4579_-4578insGCCTCCCCCACCCCCCCACCGCCTCCCCCACCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4544		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594383	G G	GGGTGGGG others(26): Show GGGTGGGGGAGGCGGTGGGGGGGGTGGGGGAGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	33	c.-45 others(44): Show c.-4579_-4578insGCCTCCCCCACCCCCCCCACCGCCTCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4544		chr22	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	408	0.0025	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATTTTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0076 a0001c0003t0001g0076	1	408	0.0025	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATATTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0009 a0001c0003t0001g0009	1	408	0.0025	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(26): Show AAAAATATACATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0338 a0003c0004t0004g0338	1	408	0.0025	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATGTATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(26): Show AAAATATACATTATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0382 a0003c0004t0004g0382	1	408	0.0025	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATAATGTATATTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAC others(26): Show AAATATACATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0004 a0011c0018t0004	a0011c0018t0004g0013 a0011c0018t0004g0013	2	408	0.0049	33	c.-95 others(42): Show c.-956_-955insATATATATATATATATATATATATATGTATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	406	0.0025	33	c.-11 others(52): Show c.-111-2757_-111-2725dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNMA6E_chrX_153390639_153406350	153390647	A A	ACACACAC others(26): Show ACACACACACACCACACACAACATGCACACCATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0047 a0002c0002t0002g0047	1	346	0.0029	33	c.62 others(44): Show c.6258_*6259insCATGGTGTGCATGTTGTGTGTGGTGTGTGTGTG	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding		4991		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153401076	A A	AAACCGGG others(26): Show AAACCGGGCCAGGCGGGACCGCCGCCCCCCAGCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	346	0.0029	33	c.-72 others(48): Show c.-72+135_-72+167dupAGCTGGGGGGCGGCGGTCCCGCCTGGCCCG GTT	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	1/1			chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137484843	A A	AGAGGCCG others(26): Show AGAGGCCGCCTGGCCCTCCCGCCTCCCCAGTCCT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0140 a0001c0002t0001g0140	1	188	0.0053	33	c.219 others(50): Show c.2198-140_2198-108dupAGGACTGGGGAGGCGGGAGGGCCAGGCG GCCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137484849	C C	CGCCTGGC others(26): Show CGCCTGGCCCTCCCGCCTCCCCAGTCCTGAGGCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG02074.hp1 others(9): Show HG01109.hp1 HG01891.hp1 HG02074.hp1 HG02155.hp1 HG02280.hp2 HG03017.hp1 HG03139.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 NA18940.hp2 NA18944.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0020	a0001c0025 a0002c0016 a0003c0008 others(5): Show a0001c0025 a0002c0016 a0003c0008 a0003c0022 a0003c0026 a0003c0058 a0006c0009 a0020c0055	a0001c0025t0001 a0002c0016t0001 a0003c0008t0001 others(5): Show a0001c0025t0001 a0002c0016t0001 a0003c0008t0001 a0003c0022t0001 a0003c0026t0001 a0003c0058t0001 a0006c0009t0001 a0020c0055t0001	a0001c0025t0001g0011 a0002c0016t0001g0173 a0003c0008t0001g0014 others(9): Show a0001c0025t0001g0011 a0002c0016t0001g0173 a0003c0008t0001g0014 a0003c0008t0001g0087 a0003c0008t0001g0091 a0003c0008t0001g0159 a0003c0022t0001g0088 a0003c0022t0001g0185 a0003c0026t0001g0012 a0003c0058t0001g0176 a0006c0009t0001g0033 a0020c0055t0001g0177	12	188	0.0638	33	c.219 others(50): Show c.2198-146_2198-114dupAGCCTCAGGACTGGGGAGGCGGGAGGGC CAGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137495519	C C	CTGCAAGC others(26): Show CTGCAAGCTCCACCTCCTGGGTTCACGCCATTCT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0077 a0028c0034t0001g0077	1	188	0.0053	33	c.201 others(50): Show c.2014-406_2014-374dupAGAATGGCGTGAACCCAGGAGGTGGAGC TTGCA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	18/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137507582	T T	TCCCTTGA others(26): Show TCCCTTGAACCCAGGAGGCAGAGGTTGCGGTGAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0033 a0033	a0033c0050 a0033c0050	a0033c0050t0001 a0033c0050t0001	a0033c0050t0001g0136 a0033c0050t0001g0136	1	188	0.0053	33	c.122 others(52): Show c.1226-1532_1226-1500dupCTCACCGCAACCTCTGCCTCCTGGGT TCAAGGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	12/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137517782	C C	CTCACTCA others(26): Show CTCACTCACTCCACTCTGTCCACTCCATCCCCCG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	188	0.0053	33	c.108 others(52): Show c.1084+2102_1084+2134dupCGGGGGATGGAGTGGACAGAGTGGAG TGAGTGA	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518738	C C	CCACTCCA others(26): Show CCACTCCATCCTCACTCACTCACTCCACTCTGCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0031 a0031	a0031c0044 a0031c0044	a0031c0044t0001 a0031c0044t0001	a0031c0044t0001g0034 a0031c0044t0001g0034	1	188	0.0053	33	c.108 others(52): Show c.1084+1178_1084+1179insAGCAGAGTGGAGTGAGTGAGTGAGGA TGGAGTG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551728	C C	CCCGCCCC others(26): Show CCCGCCCCGCGAGCCCCGCACCGCCGACCCCGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0161 a0001c0006t0003g0161	1	188	0.0053	33	c.-15 others(44): Show c.-1532_-1531insTGCGGGGTCGGCGGTGCGGGGCTCGCGGGGCGG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1327		chr9	TogoVar
POFUT2_chr21_45258935_45292895	45265645	A A	ATCACAGA others(26): Show ATCACAGAGGTTCCAGAGTCAGGGAGAACTGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0013 a0001c0001t0001 a0003c0005t0013	a0001c0001t0001g0157 a0003c0005t0013g0061 a0001c0001t0001g0157 a0003c0005t0013g0061	2	436	0.0046	33	c.113 others(48): Show c.1137-11_1137-10insCCCCAGTTCTCCCTGACTCTGGAACCTCTG TGA	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	8/8			chr21	TogoVar
POFUT2_chr21_45258935_45292895	45290648	A A	AAAAATAA others(26): Show AAAAATAAGCGTTTCTGGTCTTTGAAAGACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG01361.hp2 others(3): Show HG00099.hp2 HG00323.hp2 HG01361.hp2 HG03490.hp1 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0001 a0001c0001t0003 a0001c0001t0015	a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0001t0003g0210 others(2): Show a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0001t0003g0210 a0001c0001t0003g0261 a0001c0001t0015g0048	6	436	0.0138	33	c.-27 others(44): Show c.-2778_-2777insAAGTGTCTTTCAAAGACCAGAAACGCTTATTTT	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding		2754		chr21	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0233 a0001c0001t0006g0233	1	400	0.0025	33	c.220 others(50): Show c.220-2126_220-2125insATATATATATATATATATATATATATAT ATATT	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(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA18955.hp2 NA20129.hp1 HG00597.hp2 NA18955.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0002t0001g0125 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0002t0001g0125	3	340	0.0088	33	c.438 others(48): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar

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