Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PIBF1_chr13_72777133_73021461	72904433	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02735.hp1 HG00438.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0282 a0001c0001t0001g0284	2	346	0.0058	33	c.148 others(52): Show c.1489-4073_1489-4072insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIGL_chr17_16212210_16331411	16219580	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	246	0.0041	33	c.235 others(50): Show c.235+2124_235+2125insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PIGN_chr18_62036164_62192056	62062882	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0079 a0002c0002t0004g0079	1	342	0.0029	33	c.267 others(52): Show c.2672+9790_2672+9791insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PIGR_chr1_206923522_206951466	206948169	T T	TCTTGCTT others(26): Show TCTTGCTTTGTCACGATGCTGTGCTGGCCTTGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0006 a0004c0004t0004g0006	1	402	0.0025	33	c.-18 others(44): Show c.-1888_-1887insCCCAAGGCCAGCACAGCATCGTGACAAAGCAAG	PIGR	ENSG00000162896.6	transcript	ENST00000356495.5	protein_coding		1704		chr1	TogoVar
PIGU_chr20_34555542_34682092	34631785	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	320	0.0031	33	c.529 others(50): Show c.529+2829_529+2830insAAATATATATATATATATATATATATAT ATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02970.hp1 NA18991.hp2 HG02602.hp2 HG02970.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0002 a0001c0001t0001g0027	3	384	0.0078	33	c.18 others(42): Show c.185_*186insATATATATATATATATATATTTTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	384	0.0026	33	c.18 others(42): Show c.185_*186insATATATATATATATATATATATTTTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	33	c.18 others(42): Show c.185_*186insATATATATATATATATATATATATTTTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 NA18952.hp2 NA18956.hp2 others(1): Show HG00597.hp2 NA18952.hp2 NA18956.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0030 a0001c0001t0001g0002 a0001c0001t0001g0030	4	384	0.0104	33	c.18 others(42): Show c.185_*186insATATATATATATATATATATATATATTTTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIH1D2_chr11_112062798_112079017	112067685	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA19012.hp2 NA18957.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0007	2	384	0.0052	33	c.18 others(42): Show c.185_*186insATATATATATATATATATATATATATATTTTTT	PIH1D2	ENSG00000150773.12	transcript	ENST00000280350.10	protein_coding		112		chr11	TogoVar
PIK3AP1_chr10_96588315_96725514	96615485	A A	AGAAATGA others(26): Show AGAAATGACCAGATTTAGGATACGCTTTGGAGGC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	256	0.0039	33	c.201 others(52): Show c.2014+1121_2014+1153dupGCCTCCAAAGCGTATCCTAAATCTGG TCATTTC	PIK3AP1	ENSG00000155629.15	transcript	ENST00000339364.10	protein_coding	13/16			chr10	TogoVar
PINX1_chr8_10759961_10844875	10833778	T T	TGGGGTGC others(26): Show TGGGGTGCGGGAGGCTGGAGAAGAATGACGACTG	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0316 a0001c0001t0001g0316	1	352	0.0028	33	c.130 others(48): Show c.130-795_130-794insCAGTCGTCATTCTTCTCCAGCCTCCCGCAC CCC	PINX1	ENSG00000254093.9	transcript	ENST00000314787.8	protein_coding	2/6			chr8	TogoVar
PIP5K1B_chr9_68700240_69014176	68925795	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03486.hp1 NA18977.hp2 HG03041.hp1 HG03486.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0022 a0001c0001t0002g0212 a0001c0001t0002g0220 a0001c0001t0001g0022 a0001c0001t0002g0212 a0001c0001t0002g0220	3	220	0.0136	33	c.120 others(52): Show c.1201+2429_1201+2430insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PIP5K1B	ENSG00000107242.20	transcript	ENST00000265382.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
PISD_chr22_31613491_31667215	31637164	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0304 a0001c0001t0001g0304	1	328	0.0031	33	c.321 others(52): Show c.321+10936_321+10937insATATATATATATATATATATATATAT ATATATA	PISD	ENSG00000241878.12	transcript	ENST00000439502.7	protein_coding	3/7			chr22	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTCTT others(26): Show TTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0058 a0001c0001t0030g0058	1	218	0.0046	33	c.49- others(50): Show c.49-38616_49-38615insCTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67631655	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	218	0.0046	33	c.367 others(48): Show c.367-488_367-487insTATATATATATATATATATATATATATATA TAT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	5/8			chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67688338	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01517.hp1 HG02818.hp1 others(1): Show HG01167.hp1 HG01517.hp1 HG02818.hp1 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0001t0056	a0001c0001t0001g0124 a0001c0001t0002g0207 a0001c0001t0014g0218 others(1): Show a0001c0001t0001g0124 a0001c0001t0002g0207 a0001c0001t0014g0218 a0001c0001t0056g0092	4	218	0.0184	33	c.683 others(50): Show c.683-4221_683-4220insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561167	C C	CCTTCTCC others(26): Show CCTTCTCCCCCCTCCTTCCCTCCTCTTCCTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0051 a0001c0007t0051	a0001c0007t0051g0177 a0001c0007t0051g0177	1	218	0.0046	33	c.-47 others(44): Show c.-4762_-4761insAAGGAGGAAGAGGAGGGAAGGAGGGGGGAGAAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4613		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561372	T T	TCCTCCTC others(26): Show TCCTCCTCCTCCCCTCCTCCTCCCCTCTTCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	218	0.0046	33	c.-49 others(44): Show c.-4967_-4966insGGAGGAAGAGGGGAGGAGGAGGGGAGGAGGAGG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4818		chr17	TogoVar
PITRM1_chr10_3132728_3177782	3174583	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02165.hp2 HG03098.hp2 others(2): Show HG00558.hp1 HG02165.hp2 HG03098.hp2 NA18974.hp1 NA18984.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0007 a0001c0001 a0001c0002 a0005c0007	a0001c0001t0001 a0001c0002t0001 a0005c0007t0001 a0001c0001t0001 a0001c0002t0001 a0005c0007t0001	a0001c0001t0001g0015 a0001c0001t0001g0093 a0001c0001t0001g0309 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0093 a0001c0001t0001g0309 a0001c0002t0001g0272 a0005c0007t0001g0044	5	446	0.0112	33	c.-18 others(44): Show c.-1812_-1811insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PITRM1	ENSG00000107959.17	transcript	ENST00000224949.9	protein_coding		1802		chr10	TogoVar
PJA2_chr5_109329722_109414974	109372905	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02055.hp1 HG02145.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0291 a0002c0002t0001g0339 a0002c0002t0001g0291 a0002c0002t0001g0339	2	346	0.0058	33	c.128 others(52): Show c.1284-4160_1284-4159insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	4/9			chr5	TogoVar
PKD2L1_chr10_100283149_100335228	100321755	G G	GAAAGAAA others(26): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0286 a0002c0009t0001g0286	1	306	0.0033	33	c.349 others(50): Show c.349+7455_349+7456insTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTT	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109357595	G G	GAAATAAG others(26): Show GAAATAAGACAAGTTTTTTTTCAATTTGTTCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0212 a0001c0001t0011g0212	1	282	0.0036	33	c.-49 others(44): Show c.-4986_-4985insAAATAAGACAAGTTTTTTTTCAATTTGTTCATT	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding		4865		chr8	TogoVar
PKHD1_chr6_51610299_52092613	51950220	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0045 a0045	a0045c0084 a0045c0084	a0045c0084t0006 a0045c0084t0006	a0045c0084t0006g0087 a0045c0084t0006g0087	1	134	0.0075	33	c.590 others(52): Show c.5908+9649_5908+9650insATATATATATATATATTTTTTTTTTT TTTTTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	36/66			chr6	TogoVar
PKIG_chr20_44577579_44624037	44623665	C C	CTTTCCTT others(26): Show CTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03579.hp1 HG02486.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	2	300	0.0067	33	c.53 others(44): Show c.5301_*5302insTTTCCTTCCTTCCTCCCTCCCTCCCTTCCTCTT	PKIG	ENSG00000168734.14	transcript	ENST00000372886.6	protein_coding		4629		chr20	TogoVar
PKN1_chr19_14428306_14476859	14465399	C C	CTCTTTTT others(26): Show CTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01255.hp2 HG01261.hp2 others(4): Show HG01071.hp1 HG01255.hp2 HG01261.hp2 HG02129.hp2 HG02300.hp2 HG03017.hp1 NA19087.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0096 a0003c0005t0001g0177 a0003c0005t0001g0181 others(4): Show a0003c0005t0001g0096 a0003c0005t0001g0177 a0003c0005t0001g0181 a0003c0005t0001g0182 a0003c0005t0001g0187 a0003c0005t0001g0200 a0003c0005t0001g0352	7	376	0.0186	33	c.173 others(52): Show c.1731+1247_1731+1248insCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PKN1	ENSG00000123143.13	transcript	ENST00000242783.11	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP2_chr12_32785755_32901777	32846745	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0188 a0002c0002t0006g0188	1	342	0.0029	33	c.137 others(52): Show c.1378+4020_1378+4021insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	5/12			chr12	TogoVar
PKP2_chr12_32785755_32901777	32858095	A A	ATATATAT others(26): Show ATATATATATATATATTTATATATATTTTATATT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18993.hp2 NA19009.hp1 NA18969.hp1 NA18993.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0004g0041 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0004g0041	3	342	0.0088	33	c.117 others(52): Show c.1171-7123_1171-7122insAATATAAAATATATATAAATATATAT ATATATA	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	400887	C C	CGCCCCGC others(26): Show CGCCCCGCTCACACCCGGCCCCCGCTCACACCCG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	216	0.0046	33	c.173 others(50): Show c.1737+193_1737+194insACCCGGCCCCCGCTCACACCCGGCCCCG CTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	403015	C C	CCCCCGGA others(26): Show CCCCCGGACCCCGCTCACCCCCGCCCCACTCACA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0169 a0001c0003t0001g0169	1	216	0.0046	33	c.173 others(48): Show c.1738-60_1738-59insCGGACCCCGCTCACCCCCGCCCCACTCACA CCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G12A_chr4_109704989_109735070	109730174	G G	GGGGGGGG others(26): Show GGGGGGGGGAGGGGGGGGGGGGCGGGGCGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0274 a0001c0002t0002g0274	1	412	0.0024	33	c.-36 others(42): Show c.-366_-365insGCCCCCGCCCCGCCCCCCCCCCCCTCCCCCCCC	PLA2G12A	ENSG00000123739.11	transcript	ENST00000243501.10	protein_coding		105		chr4	TogoVar
PLA2G4C_chr19_48042846_48115817	48105933	C C	CCTTTCTT others(26): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0014 a0014	a0014c0064 a0014c0064	a0014c0064t0022 a0014c0064t0022	a0014c0064t0022g0187 a0014c0064t0022g0187	1	322	0.0031	33	c.9-4 others(44): Show c.9-490_9-489insAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G7_chr6_46699201_46740375	46739384	A A	AAAAAAAA others(26): Show AAAAAAAAAACTATCACAACGTAAAAACTCATCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0006 a0006c0006t0006	a0006c0006t0006g0018 a0006c0006t0006g0018	1	392	0.0026	33	c.-42 others(44): Show c.-4240_-4239insGGATGAGTTTTTACGTTGTGATAGTTTTTTTTT	PLA2G7	ENSG00000146070.17	transcript	ENST00000274793.12	protein_coding		4010		chr6	TogoVar
PLAGL1_chr6_143935300_144013259	143943031	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	394	0.0025	33	c.153 others(48): Show c.153-369_153-368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	7/7			chr6	TogoVar
PLB1_chr2_28491060_28649142	28554489	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0075 a0003c0003t0001g0075	1	266	0.0038	33	c.114 others(52): Show c.1147+1527_1147+1528insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	17/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLBD2_chr12_113353587_113396629	113366411	C C	CACAAAAC others(26): Show CACAAAACTACAAAATGAAACTACAAAAAAAACT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01496.hp2 HG02040.hp1 others(22): Show HG01168.hp2 HG01496.hp2 HG02040.hp1 HG02080.hp2 HG02155.hp1 HG02300.hp1 HG03927.hp2 HG06807.hp2 NA18942.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp1 NA18991.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19062.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016	a0001c0001t0002g0025 a0001c0001t0003g0005 a0001c0001t0003g0010 others(15): Show a0001c0001t0002g0025 a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0003g0024 a0001c0001t0003g0193 a0001c0001t0003g0195 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0009g0024 a0001c0001t0016g0194 a0001c0001t0016g0196	25	278	0.0899	33	c.291 others(50): Show c.291-2699_291-2698insCTACAAAATGAAACTACAAAAAAAACTA CAAAA	PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLCB1_chr20_8127266_8889900	8661945	A A	ATATATAT others(26): Show ATATATATAATTATATAATTATTTATTATATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG01109.hp2 HG02258.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0015 a0001c0005 a0005c0015	a0001c0005t0011 a0005c0015t0008 a0001c0005t0011 a0005c0015t0008	a0001c0005t0011g0068 a0005c0015t0008g0002 a0001c0005t0011g0068 a0005c0015t0008g0002	2	106	0.0189	33	c.862 others(50): Show c.862+3285_862+3317dupTATATAATTATTTATTATATAATTATAT ATAAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCH1_chr3_155474881_155750071	155739519	T T	TGGAACCA others(26): Show TGGAACCAGACCTGGAACCAGACCTGGAACCAGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	264	0.0038	33	c.-41 others(50): Show c.-41+5320_-41+5321insTCTGGTTCCAGGTCTGGTTCCAGGTCTG GTTCC	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22			chr3	TogoVar
PLCXD1_chrX_276381_308356	287656	T T	TTATATAT others(26): Show TTATATATAGATATAGATACTATATATGTTTATA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0115 a0001c0003t0044g0115	1	176	0.0057	33	c.128 others(50): Show c.128-1074_128-1073insATATAGATATAGATACTATATATGTTTA TATAT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLD5_chr1_242077986_242529697	242241910	T T	TATACACT others(26): Show TATACACTTACTATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0179 a0001c0001t0014g0179	1	188	0.0053	33	c.608 others(52): Show c.608-21796_608-21795insGTATATATATATATATATATATAGTA AGTGTAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	4/9			chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(26): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA19058.hp1 NA19068.hp1 NA18998.hp2 NA19058.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0097 a0001c0001t0005g0076 a0001c0001t0005g0125 a0001c0001t0002g0097 a0001c0001t0005g0076 a0001c0001t0005g0125	3	316	0.0095	33	c.228 others(48): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0218 a0001c0001t0009g0218	1	316	0.0032	33	c.244 others(52): Show c.2449-1685_2449-1684insAAAAAAAAAAATATATATATATATAT ATATATA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0093 a0001c0001t0022g0093	1	272	0.0037	33	c.781 others(48): Show c.781-434_781-433insATATATATATATATATATATATTTTTTTTT TTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG7_chr12_92697989_92777455	92737749	G G	GAGGAAGG others(26): Show GAGGAAGGAAGGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(73): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02300.hp2 HG02486.hp1 HG02523.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02886.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp2 NA18939.hp1 NA18964.hp1 NA18995.hp1 NA18995.hp2 NA19043.hp1 NA19058.hp1 NA19062.hp1 NA19068.hp1 NA19084.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0001 a0001c0005 a0001c0015 others(4): Show a0001c0001 a0001c0005 a0001c0015 a0001c0018 a0004c0006 a0005c0008 a0007c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0019 a0001c0005t0001 a0001c0005t0006 a0001c0015t0004 a0001c0018t0001 a0004c0006t0007 a0005c0008t0002 a0007c0014t0006	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0023 others(72): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0002g0005 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0070 a0001c0001t0002g0092 a0001c0001t0006g0107 a0001c0001t0007g0089 a0001c0001t0019g0086 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0006g0044 a0001c0005t0006g0131 a0001c0015t0004g0122 a0001c0018t0001g0121 a0004c0006t0007g0220 a0004c0006t0007g0221 a0004c0006t0007g0222 a0005c0008t0002g0025 a0005c0008t0002g0026 a0005c0008t0002g0027 a0005c0008t0002g0030 a0005c0008t0002g0031 a0007c0014t0006g0049 a0007c0014t0006g0050	76	252	0.3016	33	c.939 others(48): Show c.939+239_939+240insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGG	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(26): Show ATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0241 a0001c0002t0002g0241	1	256	0.0039	33	c.-81 others(42): Show c.-815_-814insTATATATATATATATATATATATTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(26): Show ATATATATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0011 a0002c0006t0011	a0002c0006t0011g0239 a0002c0006t0011g0239	1	256	0.0039	33	c.-81 others(42): Show c.-815_-814insTATATATATATATATATATATTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(26): Show ATATATATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02615.hp1 NA18978.hp1 others(1): Show HG00438.hp2 HG02615.hp1 NA18978.hp1 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0225 a0001c0002t0002g0130 a0001c0002t0002g0224 others(1): Show a0001c0002t0001g0225 a0001c0002t0002g0130 a0001c0002t0002g0224 a0001c0002t0002g0229	4	256	0.0156	33	c.-81 others(42): Show c.-815_-814insTATATATATATATATATATTTTTTTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636569	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0186 a0001c0003t0001g0186	1	256	0.0039	33	c.-81 others(42): Show c.-814_-813insATATATATATATATATATATATATATATATATA	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		690		chr2	TogoVar
PLEKHM2_chr1_15679320_15739769	15686648	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0026 a0002c0002t0012g0026	1	336	0.0030	33	c.60+ others(48): Show c.60+2048_60+2049insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PLEKHM2	ENSG00000116786.13	transcript	ENST00000375799.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(26): Show AAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0055 a0001c0001t0002g0055	1	200	0.0050	33	c.195 others(52): Show c.1951-4540_1951-4539insATATATATATATATATATATATTTTT TTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar

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