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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(31): Show TATATATATATATATATATATATATATACATACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0323	1	414	0.0024	38	c.81+ others(53): Show c.81+7205_81+7206insGTGTGTGTATGTATATATATATATATATAT ATATATAT		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5						chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	414	0.0024	38	c.81+ others(53): Show c.81+7205_81+7206insGTGTATGTGTATATATATATATATATATAT ATATATAT		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5						chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5442087	C C	CGTGTGTG others(31): Show CGTGTGTGTATATACGTGTGTGTATATACACACGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG03239.hp1 HG01074.hp2 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0382 a0001c0001t0001g0167 a0001c0001t0001g0382	2	414	0.0048	38	c.-44 others(49): Show c.-4432_-4431insATATACGTGTGTATATACACACACGTATATACAC ACAC		PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding					4163		chr9	TogoVar
PLG_chr6_160697244_160759097	160748348	A A	AAGAGAAA others(31): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0265 a0001c0002t0001g0265	1	384	0.0026	38	c.212 others(57): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA		PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(31): Show GAGAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0009 a0001c0024t0009	a0001c0024t0009g0246 a0001c0024t0009g0246	1	384	0.0026	38	c.212 others(57): Show c.2126-3746_2126-3745insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA		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(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	384	0.0026	38	c.212 others(57): Show c.2126-3734_2126-3733insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGAAAGAAAGA		PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr6	TogoVar
PLK3_chr1_44795377_44810990	44795518	A A	ATAAATAT others(31): Show ATAAATATATAAAAATATATAAATATATAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	38	c.-49 others(49): Show c.-4946_-4945insTAAATATATAAAAATATATAAATATATAAAAAAT ATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					4858		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795604	A A	AATATATA others(31): Show AATATATAAATATATATAAATATATATAAATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	38	c.-48 others(49): Show c.-4860_-4859insATATATAAATATATATAAATATATATAAATATAT AAAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					4772		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795718	A A	AATATATA others(31): Show AATATATAAATATATATAAATATATATAAATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp1 NA18975.hp2 NA18952.hp1 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	384	0.0052	38	c.-47 others(49): Show c.-4746_-4745insATATATAAATATATATAAATATATATAAATATAT AAAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					4658		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795776	T T	TATATAAA others(31): Show TATATAAATATATATAAATATATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(44): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01099.hp1 HG01256.hp1 HG01361.hp1 HG01975.hp2 HG02083.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02922.hp2 HG03017.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp2 HG03942.hp2 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp1 NA18960.hp1 NA18971.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19009.hp1 NA19054.hp1 NA19054.hp2 NA19068.hp2 NA19076.hp1 NA19087.hp2 NA19091.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0003c0013	a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0012t0001 a0003c0013t0001	a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0007 others(4): Show a0001c0001t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0036 a0001c0012t0001g0002 a0003c0013t0001g0035	47	384	0.1224	38	c.-46 others(49): Show c.-4688_-4687insATATAAATATATATAAATATATATATAAATATAT ATAA		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					4600		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	384	0.0026	38	c.-24 others(49): Show c.-2481_-2480insAAAAAAAAAAAAAAAAATATATATATATATATAT ATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp2 NA18956.hp2 HG02015.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	384	0.0052	38	c.-24 others(49): Show c.-2481_-2480insAAAAAAAAAAAAAAATATATATATATATATATAT ATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00673.hp2 NA18999.hp2 HG00609.hp2 HG00673.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0001t0001g0004 a0001c0002t0001g0002 a0001c0002t0001g0007	3	384	0.0078	38	c.-24 others(49): Show c.-2481_-2480insAAAAAAAAAAAAATATATATATATATATATATAT ATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	384	0.0026	38	c.-24 others(49): Show c.-2481_-2480insAAAAATATATATATATATATATATATATATATAT ATAT		PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding					2393		chr1	TogoVar
PLOD1_chr1_11929717_11980537	11967595	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA19078.hp1 HG03831.hp2 NA19078.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0284 a0002c0003t0001g0300 a0002c0003t0001g0284 a0002c0003t0001g0300	2	380	0.0053	38	c.175 others(55): Show c.1755+505_1755+506insATATATATATATATATATATATATATAT ATATATATAT		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(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	380	0.0026	38	c.175 others(55): Show c.1755+524_1755+525insTATATATATATATATATATATATATATA TATATATATA		PLOD1	ENSG00000083444.17	transcript	ENST00000196061.5	protein_coding	16/18					INFO_REALIGN_3_PRIME	chr1	TogoVar
PLPP3_chr1_56489761_56584563	56518715	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02895.hp2 HG02273.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0004 a0001c0001t0002 a0001c0003t0004	a0001c0001t0002g0259 a0001c0003t0004g0173 a0001c0001t0002g0259 a0001c0003t0004g0173	2	336	0.0060	38	c.633 others(55): Show c.633+5107_633+5108insTATATATATATATATATATATATATATA TATATATATA		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	4/5						chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557044	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	336	0.0030	38	c.140 others(57): Show c.140-19933_140-19932insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557052	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	336	0.0030	38	c.140 others(57): Show c.140-19941_140-19940insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557056	G G	GAAAGAAA others(31): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 NA19086.hp2 HG03471.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0076 a0001c0001t0001g0031 a0001c0001t0001g0076	2	336	0.0060	38	c.140 others(57): Show c.140-19945_140-19944insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT		PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5						chr1	TogoVar
PLVAP_chr19_17346455_17382342	17349162	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	436	0.0023	38	c.31 others(49): Show c.3199_*3200insAAGGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAA GAAA		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					2292		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349167	T T	TTTCTTTC others(31): Show TTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19085.hp1 NA19011.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0310 a0001c0001t0001g0311	2	436	0.0046	38	c.31 others(49): Show c.3194_*3195insGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA AGAA		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					2287		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAAGAAAG others(31): Show AAAGAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	436	0.0023	38	c.-49 others(49): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTT TCTT		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01934.hp2 NA18945.hp1 HG00621.hp2 HG01934.hp2 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0309 a0001c0001t0001g0386 a0001c0001t0001g0285 a0001c0001t0001g0309 a0001c0001t0001g0386	3	436	0.0069	38	c.-49 others(49): Show c.-4989_-4988insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT		PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding					4935		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128165	A A	ATATATGT others(31): Show ATATATGTGTGTATATATATGTATATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03579.hp1 HG02818.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0208 a0001c0001t0014g0209 a0001c0001t0003g0208 a0001c0001t0014g0209	2	320	0.0063	38	c.255 others(57): Show c.255+11488_255+11489insCATATACACATATATATACATATATA TACACACATATA		PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13						chr17	TogoVar
PLXDC1_chr17_39058313_39156637	39150668	C C	CTCCACCC others(31): Show CTCCACCCCCTACCCCAGTGCCCCATCTAGAGCCAGAGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0016 a0002c0003t0006g0016	1	320	0.0031	38	c.76+ others(51): Show c.76+656_76+693dupACTCTGGCTCTAGATGGGGCACTGGGGTAGGG GGTGGA		PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	1/13						chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19966257	G G	GTATGTGT others(31): Show GTATGTGTAAGTACACATATATGTGTATATATACACATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01071.hp1 HG01884.hp1 others(20): Show HG00642.hp1 HG01071.hp1 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02572.hp1 HG02630.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0017 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0061 a0001c0001t0066 a0001c0001t0072 a0001c0001t0087 a0001c0001t0094 a0001c0001t0125 a0002c0002t0064 a0004c0004t0039 a0004c0004t0040 a0004c0004t0076 a0004c0004t0077	a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0004g0096 others(20): Show a0001c0001t0001g0009 a0001c0001t0001g0132 a0001c0001t0004g0096 a0001c0001t0004g0107 a0001c0001t0010g0013 a0001c0001t0010g0063 a0001c0001t0017g0106 a0001c0001t0021g0120 a0001c0001t0027g0158 a0001c0001t0028g0155 a0001c0001t0028g0161 a0001c0001t0029g0003 a0001c0001t0061g0030 a0001c0001t0066g0170 a0001c0001t0072g0062 a0001c0001t0087g0095 a0001c0001t0094g0105 a0001c0001t0125g0055 a0002c0002t0064g0021 a0004c0004t0039g0134 a0004c0004t0040g0007 a0004c0004t0076g0129 a0004c0004t0077g0079	23	180	0.1278	38	c.113 others(57): Show c.113-35509_113-35472dupAGTACACATATATGTGTATATATACA CATATATGTGTA		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044231	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	180	0.0056	38	c.325 others(55): Show c.325-2636_325-2599dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044239	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0123 a0001c0001t0003g0123	1	180	0.0056	38	c.325 others(55): Show c.325-2628_325-2591dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20238687	A A	ATATATAT others(31): Show ATATATATATATATATATATATATACACACATATATGTG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03098.hp1 HG00642.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0064 a0002c0002t0101 a0002c0002t0064 a0002c0002t0101	a0002c0002t0064g0021 a0002c0002t0101g0177 a0002c0002t0064g0021 a0002c0002t0101g0177	2	180	0.0111	38	c.131 others(57): Show c.1313-6652_1313-6651insTATATATATATATATATACACACATA TATGTGTATATA		PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	12/13					INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(31): Show AATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01515.hp2 HG01928.hp2 others(10): Show HG01496.hp1 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG02071.hp2 HG03710.hp2 NA18969.hp2 NA18970.hp1 NA18974.hp1 NA18974.hp2 NA18978.hp2 NA19066.hp2 NA19086.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0008	a0001c0022 a0001c0040 a0002c0002 others(5): Show a0001c0022 a0001c0040 a0002c0002 a0003c0005 a0004c0006 a0004c0008 a0005c0007 a0008c0011	a0001c0022t0021 a0001c0040t0001 a0002c0002t0001 others(9): Show a0001c0022t0021 a0001c0040t0001 a0002c0002t0001 a0002c0002t0101 a0002c0002t0111 a0003c0005t0015 a0004c0006t0013 a0004c0008t0001 a0004c0008t0029 a0005c0007t0004 a0005c0007t0050 a0008c0011t0010	a0001c0022t0021g0293 a0001c0040t0001g0105 a0002c0002t0001g0181 others(10): Show a0001c0022t0021g0293 a0001c0040t0001g0105 a0002c0002t0001g0181 a0002c0002t0101g0256 a0002c0002t0111g0307 a0003c0005t0015g0217 a0004c0006t0013g0225 a0004c0008t0001g0135 a0004c0008t0029g0160 a0004c0008t0029g0162 a0005c0007t0004g0140 a0005c0007t0050g0002 a0008c0011t0010g0281	13	312	0.0417	38	c.137 others(55): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAT		PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31						chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132188995	A A	AGAGGAGA others(31): Show AGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0025 a0001c0002t0004g0025	1	88	0.0114	38	c.285 others(57): Show c.2857-1389_2857-1388insCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTC		PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31						chr7	TogoVar
PM20D1_chr1_205823025_205855132	205853436	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG03041.hp2 HG01361.hp2 HG03041.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0122 a0004c0005t0002g0190 a0004c0005t0002g0122 a0004c0005t0002g0190	2	416	0.0048	38	c.-33 others(49): Show c.-3365_-3364insATATATATATATATATATATATATATATATATAT ATAT		PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding					3305		chr1	TogoVar
PM20D1_chr1_205823025_205855132	205853447	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0003 a0002c0016t0003	a0002c0016t0003g0008 a0002c0016t0003g0008	1	416	0.0024	38	c.-33 others(49): Show c.-3376_-3375insCATATATATATATATATATATATATATATATATA TATA		PM20D1	ENSG00000162877.13	transcript	ENST00000367136.5	protein_coding					3316		chr1	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0024 a0024	a0024c0038 a0024c0038	a0024c0038t0001 a0024c0038t0001	a0024c0038t0001g0081 a0024c0038t0001g0081	1	408	0.0025	38	c.-95 others(47): Show c.-956_-955insATATATATATATATATATATATATATATATTTTTTT TT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAATATA others(31): Show AAAATATACATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0359 a0003c0004t0004g0359	1	408	0.0025	38	c.-95 others(47): Show c.-956_-955insATATATATATATATATATATATATATATATGTATAT TT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AATATATA others(31): Show AATATATACATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0003 a0003c0004t0004g0003	1	408	0.0025	38	c.-95 others(47): Show c.-956_-955insATATATATATATATATATATATATATATATGTATAT AT		PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding					926		chr7	TogoVar
PNKD_chr2_218265519_218351793	218315038	T T	TTCTTTCT others(31): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	280	0.0036	38	c.237 others(57): Show c.237-24744_237-24743insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCT		PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
PNLIP_chr10_116540931_116572855	116561622	A A	ATTACCTA others(31): Show ATTACCTAGAGTGGGAGCATCCAAGATTAAGTGGAGACC	frameshift_variant frameshift_variant	HIGH	NA19063.hp2 NA19063.hp2	a0000 a0000	a0000c0012 a0000c0012	a0000c0012t0001 a0000c0012t0001	a0000c0012t0001g0082 a0000c0012t0001g0082	1	276	0.0036	38	c.132 others(47): Show c.1320_1321insTTACCTAGAGTGGGAGCATCCAAGATTAAGTGGAGA CC	p.Asn others(5): Show p.Asn441fs	PNLIP	ENSG00000175535.6	transcript	ENST00000369221.2	protein_coding	12/13	1349/1483	1321/1398	441/465			chr10	TogoVar
PNMA5_chrX_152983824_152999116	152998615	A A	AATATATA others(31): Show AATATATATTATATATTATATTATATATATAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG03471.hp1 HG02280.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	286	0.0070	38	c.-49 others(49): Show c.-4913_-4912insATATATATTATATATATAATATAATATATAATAT ATAT		PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding					4500		chrX	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(31): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	454	0.0022	38	c.-20 others(49): Show c.-2004_-2003insAACAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA AAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(31): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp1 NA18747.hp1 NA18973.hp1 others(1): Show HG02083.hp1 NA18747.hp1 NA18973.hp1 NA19058.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0001c0007 a0006c0019 a0001c0002 a0001c0007 a0006c0019	a0001c0002t0003 a0001c0007t0003 a0006c0019t0003 a0001c0002t0003 a0001c0007t0003 a0006c0019t0003	a0001c0002t0003g0002 a0001c0007t0003g0023 a0006c0019t0003g0048 a0001c0002t0003g0002 a0001c0007t0003g0023 a0006c0019t0003g0048	4	454	0.0088	38	c.-20 others(49): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAA AAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(31): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00642.hp2 HG02965.hp1 others(2): Show HG00423.hp2 HG00642.hp2 HG02965.hp1 NA19043.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0002 a0001c0002t0007g0007 a0001c0002t0003g0002 a0001c0002t0007g0007	5	454	0.0110	38	c.-20 others(49): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA		PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding					1698		chr19	TogoVar
PNPLA1_chr6_36265060_36318955	36300178	T T	TGTGTGTG others(31): Show TGTGTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0175 a0002c0002t0001g0175	1	386	0.0026	38	c.776 others(55): Show c.776-1682_776-1681insTGTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAG		PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA7_chr9_137454952_137555402	137485345	T T	TGGAGTAA others(31): Show TGGAGTAAACCAGACAAACGCTGCAGGTGAGGCCTCATC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0178 a0013c0023t0001g0178	1	188	0.0053	38	c.219 others(55): Show c.2198-647_2198-610dupGATGAGGCCTCACCTGCAGCGTTTGTCT GGTTTACTCC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503434	T T	TGAGGAGG others(31): Show TGAGGAGGGGGAAGGAGAAGGAGGAGGGGGAAGGAGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0030 a0030	a0030c0059 a0030c0059	a0030c0059t0001 a0030c0059t0001	a0030c0059t0001g0075 a0030c0059t0001g0075	1	188	0.0053	38	c.147 others(57): Show c.1474-1745_1474-1708dupCTTCTCCTTCCCCCTCCTCCTTCTCC TTCCCCCTCCTC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137518484	C C	CCACTCAC others(31): Show CCACTCACTCACTCGACTCTGTCCACTCCATCCCCCACT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	188	0.0053	38	c.108 others(57): Show c.1084+1432_1084+1433insAGTGGGGGATGGAGTGGACAGAGTCG AGTGAGTGAGTG		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	11/34						chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551649	C C	CGCGCCGC others(31): Show CGCGCCGCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0028 a0028	a0028c0034 a0028c0034	a0028c0034t0001 a0028c0034t0001	a0028c0034t0001g0077 a0028c0034t0001g0077	1	188	0.0053	38	c.-14 others(49): Show c.-1453_-1452insCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGCG GCGC		PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding					1248		chr9	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0111 a0001c0001t0028g0111	1	390	0.0026	38	c.161 others(55): Show c.161+1784_161+1785insAAAAAAAAAAAATATATATATATATATA TATATATATA		PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27						chr2	TogoVar
PODXL_chr7_131495271_131561628	131497335	T T	TTGAATTA others(31): Show TTGAATTAATTATTAAATGTTTATTCAGTTTAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0340 a0004c0004t0003g0340	1	440	0.0023	38	c.69 others(49): Show c.6975_*6976insTTATTATTAAACTGAATAAACATTTAATAATTAA TTCA		PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding					2935		chr7	TogoVar

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