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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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	207880762	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0047 a0001c0001t0034g0047	1	200	0.0050	17	c.195 others(38): Show c.1951-19517_1951-19501dupTTTTTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHO2_chr15_64836915_64873002	64868184	T T	TTATTATT others(10): Show TTATTATTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp1 HG02735.hp1 HG01168.hp2 HG01169.hp1 HG02735.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0041 a0003c0004t0002g0190 a0003c0004t0002g0041 a0003c0004t0002g0190	3	322	0.0093	17	c.22 others(28): Show c.2296_*2297insTATTATTATTATTATTA	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		183		chr15	TogoVar
PLET1_chr11_112243153_112265860	112261449	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(77): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01106.hp2 HG01123.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp2 HG02080.hp1 HG02109.hp2 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02735.hp1 HG02886.hp1 HG02897.hp1 HG02976.hp2 HG03017.hp1 HG03471.hp1 HG03491.hp1 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18522.hp2 NA18942.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18961.hp2 NA18975.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18992.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19058.hp1 NA19060.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19081.hp1 NA19083.hp2 NA19090.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0009 a0001c0012 others(1): Show a0001c0001 a0001c0009 a0001c0012 a0006c0006	a0001c0001t0001 a0001c0009t0001 a0001c0012t0001 others(1): Show a0001c0001t0001 a0001c0009t0001 a0001c0012t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0172 a0001c0009t0001g0161 a0001c0012t0001g0174 a0006c0006t0001g0166	80	368	0.2174	17	c.-86 others(26): Show c.-861_-860insCACACACACACACACAC	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding		590		chr11	TogoVar
PLGRKT_chr9_5352971_5442925	5371986	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	414	0.0024	17	c.82- others(34): Show c.82-10099_82-10098insAAAAAAAAAAAAAAAAA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLIN3_chr19_4833341_4872667	4855249	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0008 a0002c0023t0008	a0002c0023t0008g0014 a0002c0023t0008g0014	1	446	0.0022	17	c.349 others(34): Show c.349-2965_349-2949dupTTTTTTTTTTTTTTTTT	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	4/7			chr19	TogoVar
PLIN4_chr19_4497192_4523486	4509310	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0071 a0071	a0071c0101 a0071c0101	a0071c0101t0001 a0071c0101t0001	a0071c0101t0001g0131 a0071c0101t0001g0131	1	412	0.0024	17	c.351 others(34): Show c.3515-356_3515-355insTTTTTTTTTTTTTTTTT	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44796057	A A	AATATAAA others(10): Show AATATAAATATAAAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG02080.hp2 HG03041.hp2 others(5): Show HG01123.hp1 HG02080.hp2 HG03041.hp2 NA18612.hp2 NA18948.hp2 NA18987.hp1 NA19057.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0016	8	384	0.0208	17	c.-44 others(28): Show c.-4407_-4406insATATAAATATAAAAAAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4319		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	17	c.-24 others(28): Show c.-2481_-2480insAAAAAAAAAAAAAATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	17	c.-24 others(28): Show c.-2481_-2480insAAAAAAAAAAAATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG03540.hp1 HG02615.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	384	0.0052	17	c.-24 others(28): Show c.-2481_-2480insAAAAAAAATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar
PLK4_chr4_127875893_127904224	127897824	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp1 HG02809.hp2 others(2): Show HG02145.hp2 HG02257.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0215 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0035 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	5	364	0.0137	17	c.281 others(34): Show c.2811-597_2811-581dupTTTTTTTTTTTTTTTTT	PLK4	ENSG00000142731.11	transcript	ENST00000270861.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
PLK5_chr19_1519077_1541046	1528471	G G	GCCTCCCA others(10): Show GCCTCCCACCTGCCCACA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02723.hp1 HG01106.hp2 HG02723.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0047 a0005c0006t0048 a0001c0001t0047 a0005c0006t0048	a0001c0001t0047g0229 a0005c0006t0048g0228 a0001c0001t0047g0229 a0005c0006t0048g0228	2	430	0.0047	17	c.328 others(30): Show c.328+60_328+76dupACCTCCCACCTGCCCAC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLK5_chr19_1519077_1541046	1528488	A A	ACCTCCCA others(10): Show ACCTCCCACCTGCCCACG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02723.hp2 others(1): Show HG01891.hp2 HG02486.hp2 HG02723.hp2 HG02809.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0017 a0005c0005t0017	a0005c0005t0017g0043 a0005c0005t0017g0320 a0005c0005t0017g0321 a0005c0005t0017g0043 a0005c0005t0017g0320 a0005c0005t0017g0321	4	430	0.0093	17	c.328 others(30): Show c.328+77_328+93dupGCCTCCCACCTGCCCAC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLK5_chr19_1519077_1541046	1528522	A A	ACCTCCCA others(10): Show ACCTCCCACCTGCCCACG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01361.hp2 HG02055.hp1 others(5): Show HG01167.hp2 HG01361.hp2 HG02055.hp1 HG02896.hp1 HG03195.hp1 HG03486.hp2 HG03579.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0020 a0001c0001t0009 a0002c0002t0020	a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 others(5): Show a0001c0001t0009g0183 a0001c0001t0009g0184 a0001c0001t0009g0185 a0001c0001t0009g0186 a0001c0001t0009g0187 a0001c0001t0009g0192 a0002c0002t0020g0307 a0002c0002t0020g0308	8	430	0.0186	17	c.328 others(32): Show c.328+165_328+181dupTCCCACCTGCCCACGCC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLK5_chr19_1519077_1541046	1528644	T T	TCCCACCT others(10): Show TCCCACCTGCCCACGCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03130.hp1 HG03209.hp2 others(1): Show HG02976.hp2 HG03130.hp1 HG03209.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0031 a0001c0001t0058 a0004c0004t0073 a0001c0001t0031 a0001c0001t0058 a0004c0004t0073	a0001c0001t0031g0036 a0001c0001t0031g0238 a0001c0001t0058g0036 others(1): Show a0001c0001t0031g0036 a0001c0001t0031g0238 a0001c0001t0058g0036 a0004c0004t0073g0045	4	430	0.0093	17	c.328 others(32): Show c.328+229_328+230insGCCCCCCACCTGCCCAC	PLK5	ENSG00000185988.15	transcript	ENST00000454744.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLP2_chrX_49166898_49180235	49169081	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00558.hp1 others(49): Show HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01123.hp1 HG01346.hp2 HG01358.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02074.hp1 HG02135.hp1 HG02148.hp1 HG02257.hp1 HG02280.hp1 HG02523.hp2 HG02602.hp1 HG02723.hp2 HG02965.hp1 HG03195.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp2 NA18944.hp1 NA18956.hp2 NA18965.hp1 NA18970.hp1 NA18982.hp1 NA19000.hp1 NA19007.hp1 NA19009.hp1 NA19055.hp1 NA19056.hp1 NA19063.hp1 NA19067.hp1 NA19089.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0016	52	260	0.2000	17	c.-29 others(28): Show c.-2920_-2919insAAAAAAAAAAAAAAAAA	PLP2	ENSG00000102007.11	transcript	ENST00000376327.6	protein_coding		2816		chrX	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18970.hp1 HG03225.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0181 a0001c0001t0001g0152 a0001c0001t0001g0181	2	294	0.0068	17	c.492 others(34): Show c.492-1285_492-1284insATATATTTTTTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03209.hp2 HG03516.hp1 others(1): Show HG02280.hp2 HG03209.hp2 HG03516.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0193 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0026 a0001c0001t0001g0193 a0001c0001t0001g0211 a0001c0001t0001g0213	4	294	0.0136	17	c.492 others(34): Show c.492-1285_492-1284insATATATATTTTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01433.hp1 HG01952.hp1 others(9): Show HG00609.hp1 HG01433.hp1 HG01952.hp1 HG02258.hp2 HG02273.hp2 NA18612.hp1 NA18947.hp1 NA18978.hp2 NA18983.hp1 NA19066.hp1 NA19068.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 others(9): Show a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0219 a0001c0001t0001g0224	12	294	0.0408	17	c.492 others(34): Show c.492-1285_492-1284insATATATATATTTTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02486.hp1 NA18961.hp2 others(1): Show HG02258.hp1 HG02486.hp1 NA18961.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0194 a0001c0001t0001g0221	4	294	0.0136	17	c.492 others(34): Show c.492-1285_492-1284insATATATATATATTTTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG04184.hp1 HG01358.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0285 a0001c0001t0001g0079 a0001c0001t0001g0285	2	294	0.0068	17	c.492 others(34): Show c.492-1285_492-1284insATATATATATATATTTT	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP1_chr5_55419854_55539964	55443192	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	294	0.0034	17	c.492 others(34): Show c.492-1285_492-1284insATATATATATATATATA	PLPP1	ENSG00000067113.17	transcript	ENST00000307259.9	protein_coding	3/5			chr5	TogoVar
PLPP2_chr19_276043_296403	290694	T T	TCCCGGCC others(10): Show TCCCGGCCCCCCCGCCAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	354	0.0028	17	c.52+ others(30): Show c.52+590_52+591insGTGGCGGGGGGGCCGGG	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding	1/5			chr19	TogoVar
PLPP2_chr19_276043_296403	291663	C C	CGGGGGGG others(10): Show CGGGGGGGGCGGGGCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0027	1	354	0.0028	17	c.-32 others(26): Show c.-328_-327insCGCGCCCCGCCCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		261		chr19	TogoVar
PLPP3_chr1_56489761_56584563	56538959	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01255.hp2 HG01978.hp1 others(9): Show HG00280.hp2 HG01255.hp2 HG01978.hp1 HG02004.hp1 HG02074.hp1 HG02451.hp1 HG02630.hp2 HG03139.hp2 HG03453.hp2 HG04184.hp2 NA19086.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0003 a0001c0002t0001 a0002c0004t0003 a0001c0001t0003 a0001c0002t0001 a0002c0004t0003	a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0087 others(9): Show a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0087 a0001c0001t0003g0125 a0001c0001t0003g0189 a0001c0001t0003g0218 a0001c0001t0003g0223 a0001c0001t0003g0289 a0001c0001t0003g0326 a0001c0002t0001g0129 a0001c0002t0001g0243 a0002c0004t0003g0013	12	336	0.0357	17	c.140 others(34): Show c.140-1848_140-1847insTTTTTTTTTTTTTTTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLRG1_chr4_154530005_154555400	154533392	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	430	0.0023	17	c.32 others(28): Show c.3292_*3293insATATATATATATATATA	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1612		chr4	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG02486.hp1 HG02896.hp2 HG02897.hp2 HG03225.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0006 a0001c0002t0009g0006	6	430	0.0140	17	c.32 others(28): Show c.3290_*3291insATATATATATTTTTTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0075 a0001c0001t0022g0075	1	430	0.0023	17	c.32 others(28): Show c.3290_*3291insATATATATATATTTTTT	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLRG1_chr4_154530005_154555400	154533394	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG03491.hp2 HG01346.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	2	430	0.0047	17	c.32 others(28): Show c.3290_*3291insATATATATATATATATA	PLRG1	ENSG00000171566.12	transcript	ENST00000499023.7	protein_coding		1610		chr4	TogoVar
PLS1_chr3_142591393_142718664	142630938	A A	ACACACAC others(10): Show ACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	276	0.0036	17	c.-36 others(36): Show c.-36-33264_-36-33263insCACACACACACACACAC	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15			chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191704	T T	TATATATA others(10): Show TATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02615.hp1 HG03579.hp2 others(1): Show HG01255.hp2 HG02615.hp1 HG03579.hp2 NA19070.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0007 a0002c0002t0008 a0003c0003t0006 others(1): Show a0001c0001t0007 a0002c0002t0008 a0003c0003t0006 a0003c0003t0010	a0001c0001t0007g0102 a0002c0002t0008g0286 a0003c0003t0006g0012 others(1): Show a0001c0001t0007g0102 a0002c0002t0008g0286 a0003c0003t0006g0012 a0003c0003t0010g0310	4	380	0.0105	17	c.27 others(28): Show c.2706_*2707insTATATATATATATATAT	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		630		chr3	TogoVar
PLSCR4_chr3_146187335_146256105	146191704	T T	TTTATATA others(10): Show TTTATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG02559.hp1 HG01081.hp1 HG02559.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0015 a0001c0001t0006 a0002c0002t0015	a0001c0001t0006g0284 a0002c0002t0015g0264 a0001c0001t0006g0284 a0002c0002t0015g0264	2	380	0.0053	17	c.27 others(28): Show c.2706_*2707insTATATATATATATATAA	PLSCR4	ENSG00000114698.15	transcript	ENST00000354952.7	protein_coding		630		chr3	TogoVar
PLVAP_chr19_17346455_17382342	17349152	T T	TTCTCTTC others(10): Show TTCTCTTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0042 a0001c0001t0004g0042	1	436	0.0023	17	c.32 others(28): Show c.3209_*3210insGAGAGAGAGAGAAGAGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2302		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382276	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01169.hp2 HG01261.hp2 HG01074.hp2 HG01169.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0402 a0001c0001t0001g0405 a0001c0001t0001g0326 a0001c0001t0001g0402 a0001c0001t0001g0405	3	436	0.0069	17	c.-49 others(28): Show c.-4989_-4988insCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4935		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17382280	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG03239.hp1 HG03710.hp1 others(2): Show HG02683.hp2 HG03239.hp1 HG03710.hp1 HG04228.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0001t0002g0129 others(2): Show a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131	5	436	0.0115	17	c.-49 others(28): Show c.-4993_-4992insCTTTCTTTCTTTCTTTC	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4939		chr19	TogoVar
PLXDC1_chr17_39058313_39156637	39128117	A A	ATATATTA others(10): Show ATATATTATATATGTATG	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0273 a0001c0001t0001g0273	1	320	0.0031	17	c.255 others(36): Show c.255+11536_255+11537insCATACATATATAATATA	PLXDC1	ENSG00000161381.14	transcript	ENST00000315392.9	protein_coding	2/13			chr17	TogoVar
PLXDC2_chr10_19811432_20294856	19883884	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03017.hp1 HG03195.hp1 others(3): Show HG01516.hp1 HG03017.hp1 HG03195.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0021 a0001c0001t0037 others(3): Show a0001c0001t0001 a0001c0001t0021 a0001c0001t0037 a0001c0001t0095 a0003c0003t0008 a0003c0003t0108	a0001c0001t0001g0009 a0001c0001t0021g0101 a0001c0001t0037g0011 others(3): Show a0001c0001t0001g0009 a0001c0001t0021g0101 a0001c0001t0037g0011 a0001c0001t0095g0100 a0003c0003t0008g0114 a0003c0003t0108g0036	6	180	0.0333	17	c.112 others(36): Show c.112+66704_112+66720dupTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	19994312	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0028 a0001c0001t0012g0028	1	180	0.0056	17	c.113 others(34): Show c.113-7451_113-7435dupTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20044216	T T	TCTTTCTT others(10): Show TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0103 a0001c0001t0085g0103	1	180	0.0056	17	c.325 others(34): Show c.325-2652_325-2636dupCTTTCTTTCTTTCTTTC	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20158501	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 homoSapiens_chm13v2.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0024 a0002c0002t0005 a0002c0002t0024	a0002c0002t0005g0086 a0002c0002t0024g0043 a0002c0002t0005g0086 a0002c0002t0024g0043	2	180	0.0111	17	c.784 others(34): Show c.784-5957_784-5941dupAAAAAAAAAAAAAAAAA	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA2_chr1_208017242_208249384	208168723	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp1 HG02027.hp1 others(4): Show HG01175.hp2 HG01981.hp1 HG02027.hp1 HG02155.hp2 NA18979.hp1 NA19060.hp2 NA19077.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0004 a0001c0034 a0007c0014 others(2): Show a0001c0004 a0001c0034 a0007c0014 a0007c0021 a0008c0011	a0001c0004t0012 a0001c0034t0001 a0007c0014t0010 others(4): Show a0001c0004t0012 a0001c0034t0001 a0007c0014t0010 a0007c0014t0106 a0007c0021t0010 a0008c0011t0010 a0008c0011t0091	a0001c0004t0012g0125 a0001c0034t0001g0201 a0007c0014t0010g0269 others(4): Show a0001c0004t0012g0125 a0001c0034t0001g0201 a0007c0014t0010g0269 a0007c0014t0106g0301 a0007c0021t0010g0263 a0008c0011t0010g0280 a0008c0011t0091g0279	7	312	0.0224	17	c.137 others(38): Show c.1372-26261_1372-26260insAAAAAAAAAAAAAAAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	AATTTTTT others(10): Show AATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0017 a0009c0013t0017	a0009c0013t0017g0108 a0009c0013t0017g0109 a0009c0013t0017g0108 a0009c0013t0017g0109	2	312	0.0064	17	c.137 others(34): Show c.1371+296_1371+297insAAAAAAAAAAAAAAAAT	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA2_chr1_208017242_208249384	208209983	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0030 a0005c0030	a0005c0030t0033 a0005c0030t0033	a0005c0030t0033g0277 a0005c0030t0033g0277	1	312	0.0032	17	c.137 others(34): Show c.1371+280_1371+296dupAAAAAAAAAAAAAAAAA	PLXNA2	ENSG00000076356.7	transcript	ENST00000367033.4	protein_coding	3/31			chr1	TogoVar
PLXNA4_chr7_132118340_132581470	132188993	G G	GGAAAGGA others(10): Show GGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01993.hp1 homoSapiens_chm13v2.hp1 HG01993.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0027 a0001c0004 a0001c0027	a0001c0004t0021 a0001c0027t0002 a0001c0004t0021 a0001c0027t0002	a0001c0004t0021g0039 a0001c0027t0002g0026 a0001c0004t0021g0039 a0001c0027t0002g0026	2	88	0.0227	17	c.285 others(36): Show c.2857-1387_2857-1386insTCCTTTCCTTTCCTTTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132188998	G G	GGAGAGGA others(10): Show GGAGAGGAGAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG03942.hp2 HG01346.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0024 a0001c0002t0004 a0001c0002t0024	a0001c0002t0004g0007 a0001c0002t0024g0058 a0001c0002t0004g0007 a0001c0002t0024g0058	2	88	0.0227	17	c.285 others(36): Show c.2857-1392_2857-1391insTCCTTTCCTCTCCTCTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132560088	G G	GAATGTGG others(10): Show GAATGTGGGATTAGACCA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0078 a0001c0001t0004g0078	1	88	0.0114	17	c.-87 others(36): Show c.-87+16317_-87+16333dupTGGTCTAATCCCACATT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94170696	C C	CAGCCTAA others(10): Show CAGCCTAATACAGTGCTG	intron_variant intron_variant	MODIFIER	HG02004.hp2 homoSapiens_chm13v2.hp1 HG02004.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0013 a0001c0005 a0001c0013	a0001c0005t0002 a0001c0013t0002 a0001c0005t0002 a0001c0013t0002	a0001c0005t0002g0192 a0001c0013t0002g0195 a0001c0005t0002g0192 a0001c0013t0002g0195	2	298	0.0067	17	c.120 others(36): Show c.1203+1406_1203+1422dupCCTAATACAGTGCTGAG	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94268588	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02809.hp1 HG02922.hp1 others(2): Show HG01978.hp1 HG02809.hp1 HG02922.hp1 HG02922.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0018 a0002c0021 others(1): Show a0001c0007 a0001c0018 a0002c0021 a0002c0040	a0001c0007t0003 a0001c0007t0013 a0001c0018t0011 others(2): Show a0001c0007t0003 a0001c0007t0013 a0001c0018t0011 a0002c0021t0002 a0002c0040t0002	a0001c0007t0003g0060 a0001c0007t0013g0002 a0001c0018t0011g0177 others(2): Show a0001c0007t0003g0060 a0001c0007t0013g0002 a0001c0018t0011g0177 a0002c0021t0002g0015 a0002c0040t0002g0258	5	298	0.0168	17	c.359 others(36): Show c.3597+3371_3597+3387dupTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMAIP1_chr18_59894996_59909305	59896082	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0028 a0001c0001t0019g0028	1	458	0.0022	17	c.-40 others(28): Show c.-4096_-4095insTTTTTTTTTTTTTTTTT	PMAIP1	ENSG00000141682.12	transcript	ENST00000316660.7	protein_coding		3913		chr18	TogoVar
PMCH_chr12_102191459_102202833	102200373	A A	ATTTTACA others(10): Show ATTTTACAGATAATGATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	17	c.-26 others(28): Show c.-2604_-2603insAATCATTATCTGTAAAA	PMCH	ENSG00000183395.5	transcript	ENST00000329406.5	protein_coding		2541		chr12	TogoVar

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