JoGo: Joint Open Genome and Omics Platform

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
PLEKHA7_chr11_16772297_17019414	16891070	C C	CTCTATTC others(23): Show CTCTATTCTATTCTATTCTATTCTATTCTAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18966.hp2 HG02135.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0094 a0001c0001t0003g0142 a0001c0001t0002g0094 a0001c0001t0003g0142	2	244	0.0082	30	c.222 others(49): Show c.222-19889_222-19888insATAGAATAGAATAGAATAGAATAGAA TAGA	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16906302	T T	TCCTCCTC others(23): Show TCCTCCTCTCCCTCTCCCTCCTCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01081.hp1 HG01175.hp2 others(1): Show HG01069.hp2 HG01081.hp1 HG01175.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0127 a0001c0001t0002g0102 a0001c0003t0001g0190 others(1): Show a0001c0001t0001g0127 a0001c0001t0002g0102 a0001c0003t0001g0190 a0001c0003t0001g0230	4	244	0.0164	30	c.222 others(49): Show c.222-35121_222-35120insGAGAGGGAGAGGAGGGAGAGGGAGAG GAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16906326	C C	CCCTCTCC others(23): Show CCCTCTCCCTCTCCCTCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0174 a0001c0003t0001g0174	1	244	0.0041	30	c.222 others(49): Show c.222-35145_222-35144insAGGGAGAGGGAGAGGAGGGAGAGGGA GAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHD1_chr14_69479728_69536551	69498057	A A	ATTTATTT others(23): Show ATTTATTTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	318	0.0031	30	c.150 others(47): Show c.150-2038_150-2009dupTTTTATTTTATTTTATTTTATTTTATTT TA	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498057	A A	ATTTTATT others(23): Show ATTTTATTTTATTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0298 a0001c0002t0004g0298	1	318	0.0031	30	c.150 others(47): Show c.150-2055_150-2054insTATTTTATTTATTTTATTTTATTTTATT TT	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498588	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01346.hp2 HG01433.hp2 others(4): Show HG00140.hp1 HG01346.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG02970.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0001 a0001c0003t0003	a0001c0003t0001g0211 a0001c0003t0001g0220 a0001c0003t0001g0221 others(4): Show a0001c0003t0001g0211 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0242 a0001c0003t0001g0244 a0001c0003t0003g0190	7	318	0.0220	30	c.150 others(47): Show c.150-1499_150-1498insCCTTCTCTTCTCTTCTCTTCTCTTCTCT TC	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHD1_chr14_69479728_69536551	69498588	T T	TTTCTCTT others(23): Show TTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02717.hp2 NA18978.hp1 others(1): Show HG02165.hp2 HG02717.hp2 NA18978.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0278 a0001c0001t0003g0089 a0001c0002t0002g0287 others(1): Show a0001c0001t0001g0278 a0001c0001t0003g0089 a0001c0002t0002g0287 a0001c0002t0002g0301	4	318	0.0126	30	c.150 others(47): Show c.150-1482_150-1453dupCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	PLEKHD1	ENSG00000175985.10	transcript	ENST00000322564.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG1_chr6_150594885_150848665	150628575	C C	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01123.hp2 HG01256.hp1 others(9): Show HG00280.hp1 HG01123.hp2 HG01256.hp1 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG02300.hp1 HG03490.hp2 HG03710.hp1 NA19001.hp1 NA19078.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0005c0014	a0001c0001t0011 a0001c0002t0005 a0001c0003t0001 others(6): Show a0001c0001t0011 a0001c0002t0005 a0001c0003t0001 a0001c0003t0005 a0001c0004t0010 a0001c0005t0006 a0001c0006t0004 a0001c0008t0003 a0005c0014t0003	a0001c0001t0011g0217 a0001c0002t0005g0202 a0001c0003t0001g0058 others(9): Show a0001c0001t0011g0217 a0001c0002t0005g0202 a0001c0003t0001g0058 a0001c0003t0005g0206 a0001c0004t0010g0074 a0001c0005t0006g0031 a0001c0006t0004g0037 a0001c0006t0004g0077 a0001c0006t0004g0078 a0001c0008t0003g0205 a0001c0008t0003g0215 a0005c0014t0003g0063	12	272	0.0441	30	c.-15 others(51): Show c.-157-22151_-157-22150insACACACACACACACACACACACAC ACATAC	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804155	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18971.hp1 HG02083.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0029 a0001c0012t0001 a0001c0001t0029 a0001c0012t0001	a0001c0001t0029g0104 a0001c0012t0001g0234 a0001c0001t0029g0104 a0001c0012t0001g0234	2	272	0.0074	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATATATATAT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02132.hp2 HG02040.hp2 HG02132.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0224 a0001c0002t0001g0109 a0001c0002t0001g0224	2	272	0.0074	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATATATATTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0007 a0004c0041t0007	a0004c0041t0007g0137 a0004c0041t0007g0137	1	272	0.0037	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATATATTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0021 a0001c0037t0021	a0001c0037t0021g0181 a0001c0037t0021g0181	1	272	0.0037	30	c.781 others(45): Show c.781-434_781-433insATATATATATATATATATATATTTTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	110404	C C	CACACCCA others(23): Show CACACCCACACAATCTGCAACACACATGCAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0060 a0035c0060	a0035c0060t0020 a0035c0060t0020	a0035c0060t0020g0188 a0035c0060t0020g0188	1	210	0.0048	30	c.46- others(45): Show c.46-2823_46-2822insATGCATACACCCACACAATCTGCAACACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165147	A A	AGCTCACA others(23): Show AGCTCACACAGTAATGCTGTGACGGGGCGGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0006 a0006	a0006c0072 a0006c0072	a0006c0072t0036 a0006c0072t0036	a0006c0072t0036g0206 a0006c0072t0036g0206	1	210	0.0048	30	c.347 others(49): Show c.3476+1607_3476+1608insAGTAATGCTGTGACGGGGCGGGGCTC ACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165262	T T	TCACAGTA others(23): Show TCACAGTACTCCTCTGACGGGGCGGAGCTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02004.hp1 HG02602.hp1 others(3): Show HG00323.hp1 HG02004.hp1 HG02602.hp1 HG02723.hp2 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0031 a0001c0001t0097 a0001c0001t0104 others(3): Show a0001c0001t0031 a0001c0001t0097 a0001c0001t0104 a0001c0002t0006 a0001c0011t0029 a0001c0011t0106	a0001c0001t0031g0112 a0001c0001t0097g0086 a0001c0001t0104g0023 others(3): Show a0001c0001t0031g0112 a0001c0001t0097g0086 a0001c0001t0104g0023 a0001c0002t0006g0134 a0001c0011t0029g0136 a0001c0011t0106g0085	6	210	0.0286	30	c.347 others(49): Show c.3476+1717_3476+1718insAGTACTCCTCTGACGGGGCGGAGCTC ACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165305	C C	CGGGGCGG others(23): Show CGGGGCGGAGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0056 a0006c0021t0056	a0006c0021t0056g0199 a0006c0021t0056g0199	1	210	0.0048	30	c.347 others(49): Show c.3476+1764_3476+1765insAGCTCACACTAATGCTGTGACAGGGG GCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165393	G G	GCGGAGCT others(23): Show GCGGAGCTCACACTAATGCTGTGACAGGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0056 a0006c0021t0056	a0006c0021t0056g0199 a0006c0021t0056g0199	1	210	0.0048	30	c.347 others(49): Show c.3476+1864_3476+1865insGTGACAGGGGTCGGAGCTCACACTAA TGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165461	C C	CTAATGCT others(23): Show CTAATGCTGTGACGGGGCGGGGCTCACACAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0021 a0008c0024t0021	a0008c0024t0021g0175 a0008c0024t0021g0175	1	210	0.0048	30	c.347 others(49): Show c.3476+1920_3476+1921insGTGACGGGGCGGGGCTCACACAGTAA TGCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165557	C C	CGGGGCGG others(23): Show CGGGGCGGAGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0008 a0001c0007t0008	a0001c0007t0008g0146 a0001c0007t0008g0146	1	210	0.0048	30	c.347 others(49): Show c.3476+2016_3476+2017insAGCTCACACTAATGCTGTGACAGGGG GCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165644	G G	GGCGGGGC others(23): Show GGCGGGGCTCACACACTAATGCTGTGACGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0050 a0013c0020t0050	a0013c0020t0050g0182 a0013c0020t0050g0182	1	210	0.0048	30	c.347 others(49): Show c.3476+2100_3476+2101insGGCTCACACACTAATGCTGTGACGGA GCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165753	C C	CGGGGCGG others(23): Show CGGGGCGGAGCTCACACTAATGCTGTGACAG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0068 a0006c0068	a0006c0068t0058 a0006c0068t0058	a0006c0068t0058g0194 a0006c0068t0058g0194	1	210	0.0048	30	c.347 others(49): Show c.3476+2212_3476+2213insAGCTCACACTAATGCTGTGACAGGGG GCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165853	G G	GTAATGCT others(23): Show GTAATGCTGTGACAGGGGTCGGAGCTCACAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0006 a0006	a0006c0073 a0006c0073	a0006c0073t0020 a0006c0073t0020	a0006c0073t0020g0193 a0006c0073t0020g0193	1	210	0.0048	30	c.347 others(49): Show c.3476+2309_3476+2310insGCTGTGACAGGGGTCGGAGCTCACAC TAAT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165873	A A	AGCTCACA others(23): Show AGCTCACACACTAATGCTCTGATGGGGCGGG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0134 a0004c0006t0134	a0004c0006t0134g0011 a0004c0006t0134g0011	1	210	0.0048	30	c.347 others(49): Show c.3476+2333_3476+2334insACTAATGCTCTGATGGGGCGGGGCTC ACAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0005 a0009c0021t0005	a0009c0021t0005g0254 a0009c0021t0005g0254	1	256	0.0039	30	c.-81 others(39): Show c.-815_-814insTATATATATATATATATATATATATTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0243 a0001c0002t0001g0243	1	256	0.0039	30	c.-81 others(39): Show c.-815_-814insTATATATATATATATATATATATTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0240 a0001c0002t0002g0240	1	256	0.0039	30	c.-81 others(39): Show c.-815_-814insTATATATATATATATATTTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01981.hp1 HG01109.hp1 HG01981.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0102 a0003c0004t0010g0139 a0003c0004t0010g0102 a0003c0004t0010g0139	2	256	0.0078	30	c.-81 others(39): Show c.-815_-814insTATATATATATATATTTTTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207830664	A A	ATAAGTGT others(23): Show ATAAGTGTCCTTAGAAGAAGGACACTTCTTC	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	200	0.0050	30	c.210 others(49): Show c.2109-2198_2109-2169dupGAAGAAGTGTCCTTCTTCTAAGGACA CTTA	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207923880	C C	CACACACA others(23): Show CACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	200	0.0050	30	c.188 others(49): Show c.1886+7045_1886+7046insATATATATATATATATATATATGTGT GTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	208024142	C C	CAAAATAA others(23): Show CAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0004 a0002c0005t0004	a0002c0005t0004g0094 a0002c0005t0004g0094	1	200	0.0050	30	c.-31 others(49): Show c.-319+1217_-319+1246dupATTTTATTTTATTTTATTTTATTTTA TTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHN1_chr1_961482_980865	976719	C C	CCCCAGGA others(23): Show CCCCAGGAACCGCCTCCCACTCCCCCCACAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	422	0.0024	30	c.21 others(41): Show c.2144_*2145insCCCAGGAACCGCCTCCCACTCCCCCCACAA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		855		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976779	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	30	c.22 others(41): Show c.2204_*2205insAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		915		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976875	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	30	c.23 others(41): Show c.2300_*2301insAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1011		chr1	TogoVar
PLEKHN1_chr1_961482_980865	976907	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03098.hp1 HG03209.hp2 others(1): Show HG02922.hp1 HG03098.hp1 HG03209.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0009 a0001c0053 a0004c0029 a0001c0009 a0001c0053 a0004c0029	a0001c0009t0010 a0001c0053t0010 a0004c0029t0041 a0001c0009t0010 a0001c0053t0010 a0004c0029t0041	a0001c0009t0010g0015 a0001c0053t0010g0035 a0004c0029t0041g0002 a0001c0009t0010g0015 a0001c0053t0010g0035 a0004c0029t0041g0002	4	422	0.0095	30	c.23 others(41): Show c.2332_*2333insAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1043		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977065	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01928.hp2 others(3): Show HG01167.hp2 HG01169.hp1 HG01928.hp2 HG01978.hp2 HG03688.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0044 a0001c0001 a0001c0044	a0001c0001t0001 a0001c0001t0016 a0001c0044t0001 a0001c0001t0001 a0001c0001t0016 a0001c0044t0001	a0001c0001t0001g0001 a0001c0001t0016g0048 a0001c0044t0001g0001 a0001c0001t0001g0001 a0001c0001t0016g0048 a0001c0044t0001g0001	6	422	0.0142	30	c.24 others(41): Show c.2490_*2491insAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1201		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977151	C C	CCACCCCG others(23): Show CCACCCCGCCAACCCCGGGAACCGCCTCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0015 a0015	a0015c0041 a0015c0041	a0015c0041t0002 a0015c0041t0002	a0015c0041t0002g0113 a0015c0041t0002g0113	1	422	0.0024	30	c.25 others(41): Show c.2576_*2577insCACCCCGCCAACCCCGGGAACCGCCTCCCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1287		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977160	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG02135.hp1 HG03490.hp1 others(6): Show HG00558.hp2 HG02135.hp1 HG03490.hp1 HG03834.hp1 NA18950.hp1 NA18952.hp1 NA18961.hp1 NA19078.hp1 NA19086.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0003c0003 a0001c0001 a0001c0007 a0003c0003	a0001c0001t0001 a0001c0007t0001 a0003c0003t0001 a0001c0001t0001 a0001c0007t0001 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0139 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0007t0001g0023 a0003c0003t0001g0001	9	422	0.0213	30	c.25 others(41): Show c.2585_*2586insAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1296		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977192	C C	CAACCCCG others(23): Show CAACCCCGGGAACCACCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp1 others(6): Show HG00140.hp1 HG00642.hp2 HG00733.hp1 HG01256.hp2 HG01258.hp2 HG01952.hp2 HG02083.hp2 NA18987.hp1 NA19004.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0002 a0002c0002t0007	a0002c0002t0002g0003 a0002c0002t0002g0104 a0002c0002t0002g0120 others(2): Show a0002c0002t0002g0003 a0002c0002t0002g0104 a0002c0002t0002g0120 a0002c0002t0002g0147 a0002c0002t0007g0003	9	422	0.0213	30	c.26 others(41): Show c.2617_*2618insAACCCCGGGAACCACCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1328		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977320	C C	CCCCGGGA others(23): Show CCCCGGGAACCGCCTCCCACTCCCCCCGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	422	0.0024	30	c.27 others(41): Show c.2745_*2746insCCCGGGAACCGCCTCCCACTCCCCCCGCAA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1456		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977342	C C	CCCCCGCA others(23): Show CCCCCGCAACCCCGGGAACCGCCTCCCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0099 a0003c0003t0011g0099	1	422	0.0024	30	c.27 others(41): Show c.2767_*2768insCCCCGCAACCCCGGGAACCGCCTCCCACCA	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1478		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977444	C C	CAACCCCG others(23): Show CAACCCCGGGAACCGCCTCCCACTCCCCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0014 a0014	a0014c0040 a0014c0040	a0014c0040t0001 a0014c0040t0001	a0014c0040t0001g0034 a0014c0040t0001g0034	1	422	0.0024	30	c.28 others(41): Show c.2869_*2870insAACCCCGGGAACCGCCTCCCACTCCCCGCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1580		chr1	TogoVar
PLEKHN1_chr1_961482_980865	978047	A A	ACCCCCCC others(23): Show ACCCCCCCAACCCCAGGAACCGCCTCCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	1	422	0.0024	30	c.34 others(41): Show c.3472_*3473insCCCCCCCAACCCCAGGAACCGCCTCCCAAC	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		2183		chr1	TogoVar
PLEKHO2_chr15_64836915_64873002	64871388	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02818.hp2 HG02886.hp2 others(2): Show HG02615.hp1 HG02818.hp2 HG02886.hp2 HG03516.hp2 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011	a0001c0001t0002g0005 a0001c0001t0002g0139 a0001c0001t0004g0036 others(2): Show a0001c0001t0002g0005 a0001c0001t0002g0139 a0001c0001t0004g0036 a0001c0001t0004g0176 a0001c0001t0011g0156	5	322	0.0155	30	c.55 others(41): Show c.5500_*5501insATATATATATATATATATATATATATATAT	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		3387		chr15	TogoVar
PLGRKT_chr9_5352971_5442925	5424668	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	414	0.0024	30	c.81+ others(45): Show c.81+7228_81+7229insTATATATATATATATATATATATATATATA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(23): Show TATATATATATATATATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02027.hp1 HG02602.hp1 others(12): Show HG00621.hp1 HG02027.hp1 HG02602.hp1 NA18943.hp1 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp1 NA18972.hp1 NA18994.hp1 NA18995.hp2 NA19070.hp1 NA19077.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 others(12): Show a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0367 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0378 a0002c0002t0001g0319 a0002c0002t0001g0326	15	414	0.0362	30	c.81+ others(45): Show c.81+7205_81+7206insGTGTATGTGTATATATATATATATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	414	0.0024	30	c.81+ others(45): Show c.81+7205_81+7206insGTGTGTATATATATATATATATATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748354	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAAAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	384	0.0026	30	c.212 others(49): Show c.2126-3738_2126-3737insGAGAGAGAGAAAGAAAGAAAGAAAGA AAGA	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(23): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0009 a0001c0013t0009	a0001c0013t0009g0035 a0001c0013t0009g0035	1	384	0.0026	30	c.212 others(49): Show c.2126-3742_2126-3741insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748358	A A	AAGAAAGA others(23): Show AAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0194 a0001c0001t0017g0194	1	384	0.0026	30	c.212 others(49): Show c.2126-3738_2126-3737insGAGAGAGAGAGAGAAAGAAAGAAAGA AAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748361	A A	AAAGAAAG others(23): Show AAAGAAAGAAAGAAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0134 a0001c0003t0001g0134	1	384	0.0026	30	c.212 others(49): Show c.2126-3741_2126-3740insGAGAGAGAGAGAGAGAGAAGAAAGAA AGAA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar

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