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
PKP3_chr11_389209_409908	401194	A A	ACCCACCC others(23): Show ACCCACCCCGCTCACACCCGCCCCGCTCACC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0112 a0001c0002t0001g0112	1	216	0.0046	30	c.173 others(47): Show c.1737+492_1737+493insACCCCGCTCACACCCGCCCCGCTCACCC CC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401194	A A	ACCCGCCC others(23): Show ACCCGCCCCGCTCACACCCGCCCCGCTCACC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00639.hp2 others(33): Show HG00609.hp1 HG00639.hp1 HG00639.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp1 HG01943.hp1 HG01952.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02735.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03492.hp2 HG03704.hp2 HG04199.hp2 NA18612.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA19030.hp1 NA19065.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0002 a0010 others(3): Show a0001 a0002 a0010 a0011 a0015 a0016	a0001c0002 a0001c0003 a0001c0004 others(8): Show a0001c0002 a0001c0003 a0001c0004 a0001c0010 a0001c0016 a0001c0036 a0002c0013 a0010c0033 a0011c0031 a0015c0032 a0016c0020	a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 others(8): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0010t0003 a0001c0016t0001 a0001c0036t0001 a0002c0013t0001 a0010c0033t0001 a0011c0031t0001 a0015c0032t0001 a0016c0020t0001	a0001c0002t0001g0100 a0001c0002t0001g0125 a0001c0002t0001g0131 others(33): Show a0001c0002t0001g0100 a0001c0002t0001g0125 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0140 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0158 a0001c0003t0001g0095 a0001c0003t0001g0099 a0001c0003t0001g0101 a0001c0003t0001g0102 a0001c0003t0001g0108 a0001c0003t0001g0114 a0001c0003t0001g0118 a0001c0003t0001g0149 a0001c0003t0001g0155 a0001c0003t0001g0160 a0001c0003t0001g0161 a0001c0003t0001g0165 a0001c0003t0001g0166 a0001c0004t0001g0070 a0001c0010t0003g0018 a0001c0016t0001g0208 a0001c0036t0001g0168 a0002c0013t0001g0110 a0002c0013t0001g0111 a0002c0013t0001g0179 a0010c0033t0001g0124 a0011c0031t0001g0167 a0015c0032t0001g0157 a0016c0020t0001g0020	36	216	0.1667	30	c.173 others(47): Show c.1737+493_1737+494insCCCCGCTCACACCCGCCCCGCTCACCCC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401199	G G	CCCCGCTC others(23): Show CCCCGCTCACACCCGCCCCGCTCACCCCCGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01934.hp2 others(9): Show HG00099.hp2 HG00673.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG02074.hp2 HG02451.hp1 HG02683.hp1 HG02723.hp2 HG03017.hp1 HG03453.hp1 HG06807.hp1	a0001 a0007 a0019 a0001 a0007 a0019	a0001c0002 a0001c0003 a0001c0010 others(2): Show a0001c0002 a0001c0003 a0001c0010 a0007c0034 a0019c0017	a0001c0002t0001 a0001c0003t0001 a0001c0010t0003 others(2): Show a0001c0002t0001 a0001c0003t0001 a0001c0010t0003 a0007c0034t0001 a0019c0017t0001	a0001c0002t0001g0105 a0001c0002t0001g0141 a0001c0002t0001g0144 others(9): Show a0001c0002t0001g0105 a0001c0002t0001g0141 a0001c0002t0001g0144 a0001c0002t0001g0176 a0001c0002t0001g0178 a0001c0003t0001g0096 a0001c0003t0001g0098 a0001c0003t0001g0152 a0001c0003t0001g0159 a0001c0010t0003g0017 a0007c0034t0001g0163 a0019c0017t0001g0109	12	216	0.0556	30	c.173 others(47): Show c.1737+493_1737+494insCCCCGCTCACACCCGCCCCGCTCACCCC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401240	A A	ACCCGACC others(23): Show ACCCGACCCGCTCACCCCGGCCCCGCTCACC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	216	0.0046	30	c.173 others(47): Show c.1737+539_1737+540insACCCGCTCACCCCGGCCCCGCTCACCCC CG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401240	A A	ACCCGGCC others(23): Show ACCCGGCCCGCTCACCCCCGGCCCCGCTCAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	216	0.0046	30	c.173 others(47): Show c.1737+543_1737+544insGCTCACCCCCGGCCCCGCTCACCCCGGC CC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401707	G G	GCCCCGCT others(23): Show GCCCCGCTCACCCCCAGCCCCGCTCACACCT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0106 a0001c0002t0001g0106	1	216	0.0046	30	c.173 others(49): Show c.1737+1002_1737+1003insCCCCGCTCACCCCCAGCCCCGCTCAC ACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401841	A A	ACCCCCGG others(23): Show ACCCCCGGCCCGCACACCCCGCCCCGCTCAC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0080 a0001c0004t0001g0080	1	216	0.0046	30	c.173 others(49): Show c.1737+1140_1737+1141insCGGCCCGCACACCCCGCCCCGCTCAC CCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G2D_chr1_20106939_20124536	20111920	C C	CTTATTTT others(23): Show CTTATTTTATTTTATTTTATTTTATTTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03098.hp2 NA18944.hp2 HG02976.hp2 HG03098.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0001 a0001c0001t0001g0013	3	464	0.0065	30	c.21 others(41): Show c.2193_*2194insAATAAAATAAAATAAAATAAAATAAAATAA	PLA2G2D	ENSG00000117215.15	transcript	ENST00000375105.8	protein_coding		18		chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186830608	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	310	0.0032	30	c.-70 others(47): Show c.-70+1597_-70+1598insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186934443	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03486.hp1 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0215 a0001c0001t0001g0030 a0001c0001t0001g0215	2	310	0.0065	30	c.695 others(47): Show c.695+1565_695+1566insTATATATATATATATATATATATATATA TA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0027 a0027	a0027c0049 a0027c0049	a0027c0049t0008 a0027c0049t0008	a0027c0049t0008g0181 a0027c0049t0008g0181	1	322	0.0031	30	c.125 others(47): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63615044	A A	ATATATAT others(23): Show ATATATATATATATATATGTATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	352	0.0028	30	c.-71 others(39): Show c.-715_-714insCATATATACATACATATATATATATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		612		chr11	TogoVar
PLAGL1_chr6_143935300_144013259	143943031	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp2 HG04228.hp2 HG03654.hp1 HG03654.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0117 a0001c0001t0001g0306 a0001c0001t0001g0307	3	394	0.0076	30	c.153 others(45): Show c.153-369_153-368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	7/7			chr6	TogoVar
PLAGL1_chr6_143935300_144013259	143985982	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0040 a0001c0001t0004g0040	1	394	0.0025	30	c.-58 others(47): Show c.-583-809_-583-808insTATATATATATATATATATATATATATA TA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	1/7			chr6	TogoVar
PLAT_chr8_42169718_42212565	42194241	A A	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGTGT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0150 a0001c0002t0001g0150	1	378	0.0027	30	c.-26 others(47): Show c.-26-1031_-26-1030insACACACTCTCTCTCTCTCTCTCTCTCTC TC	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0320 a0001c0005t0004g0320	1	378	0.0027	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTGTGTGTGTGTATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02896.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0317 a0001c0002t0001g0318 a0001c0002t0003g0332 a0001c0001t0001g0317 a0001c0002t0001g0318 a0001c0002t0003g0332	3	378	0.0079	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTGTGTGTGTATATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0310 a0001c0002t0001g0310	1	378	0.0027	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTGTATATATATATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0307 a0001c0002t0001g0308	2	378	0.0053	30	c.-27 others(47): Show c.-27+3501_-27+3502insGTATATATATATATATATATATATATAT AT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAUR_chr19_43643579_43675169	43645481	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0172 a0001c0001t0001g0026 a0001c0001t0001g0172	2	442	0.0045	30	c.34 others(41): Show c.3408_*3409insCACACACACACACACACACACACACACACA	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		3097		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8130116	G G	GAGGAAAG others(23): Show GAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp2 HG01346.hp1 others(7): Show HG01109.hp1 HG01109.hp2 HG01346.hp1 HG01496.hp1 HG02258.hp2 HG02683.hp2 HG02895.hp2 HG03041.hp1 HG03471.hp2 HG03492.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0002c0025 a0005c0015	a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0002t0013 a0001c0005t0008 a0001c0006t0006 a0001c0007t0010 a0002c0025t0001 a0005c0015t0008	a0001c0001t0003g0012 a0001c0001t0003g0062 a0001c0001t0006g0028 others(7): Show a0001c0001t0003g0012 a0001c0001t0003g0062 a0001c0001t0006g0028 a0001c0001t0010g0008 a0001c0002t0013g0005 a0001c0005t0008g0003 a0001c0006t0006g0024 a0001c0007t0010g0006 a0002c0025t0001g0044 a0005c0015t0008g0002	10	106	0.0943	30	c.-25 others(41): Show c.-2536_-2535insAGGAAAGGAAAGGAAAGGAAAGGAAAGGAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding		2149		chr20	TogoVar
PLCB1_chr20_8127266_8889900	8490869	T T	TATATATA others(23): Show TATATATATGTACACATATCTATATGTACAC	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0039 a0001c0004t0003g0039	1	106	0.0094	30	c.246 others(51): Show c.246+119430_246+119459dupACACATATCTATATGTACACATAT ATATGT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523490	C C	CCATATAT others(23): Show CCATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA20129.hp2 NA20752.hp1 HG03139.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0022 a0001c0001 a0001c0005 a0001c0022	a0001c0001t0018 a0001c0005t0002 a0001c0022t0015 a0001c0001t0018 a0001c0005t0002 a0001c0022t0015	a0001c0001t0018g0060 a0001c0005t0002g0064 a0001c0022t0015g0100 a0001c0001t0018g0060 a0001c0005t0002g0064 a0001c0022t0015g0100	3	106	0.0283	30	c.247 others(51): Show c.247-104804_247-104803insCATATATATATATATATATATATA TATATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTATAT others(23): Show CTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0009 a0002c0024t0009	a0002c0024t0009g0081 a0002c0024t0009g0081	1	106	0.0094	30	c.247 others(51): Show c.247-104797_247-104796insCTATATATATATATATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0006 a0001c0010t0006	a0001c0010t0006g0085 a0001c0010t0006g0085	1	106	0.0094	30	c.247 others(51): Show c.247-104797_247-104796insCTCTCTCTCTCTATATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0069 a0001c0003t0002g0069	1	106	0.0094	30	c.247 others(51): Show c.247-104797_247-104796insCTCTCTCTCTCTCTATATATATAT ATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8643742	G G	GCCCTCTC others(23): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01891.hp1 HG02647.hp1 others(7): Show HG01074.hp1 HG01891.hp1 HG02647.hp1 HG02895.hp1 HG02970.hp2 HG03209.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006	a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 others(6): Show a0001c0001t0003 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001 a0001c0004t0003 a0001c0004t0019 a0001c0005t0007 a0001c0006t0002	a0001c0001t0003g0062 a0001c0001t0014g0007 a0001c0002t0001g0020 others(7): Show a0001c0001t0003g0062 a0001c0001t0014g0007 a0001c0002t0001g0020 a0001c0002t0003g0023 a0001c0003t0001g0029 a0001c0004t0003g0016 a0001c0004t0019g0052 a0001c0005t0007g0032 a0001c0006t0002g0048 a0001c0006t0002g0049	10	106	0.0943	30	c.385 others(47): Show c.385-2353_385-2324dupCCCTCTCCCTCTCCCTCTCCCTCTCCCT CT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8643753	C C	CTCCCTCT others(23): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01517.hp2 HG01934.hp2 others(2): Show HG01496.hp2 HG01517.hp2 HG01934.hp2 HG02683.hp1 NA20300.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0007c0020	a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0005 a0001c0004t0005 a0007c0020t0004	a0001c0001t0001g0015 a0001c0001t0004g0025 a0001c0003t0005g0046 others(2): Show a0001c0001t0001g0015 a0001c0001t0004g0025 a0001c0003t0005g0046 a0001c0004t0005g0051 a0007c0020t0004g0071	5	106	0.0472	30	c.385 others(47): Show c.385-2324_385-2323insCCCTTTCCCTCTCCCTCTCCCTCTCCCT CT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8643765	C C	CTCCCTCT others(23): Show CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0042 a0001c0004t0021g0042	1	106	0.0094	30	c.385 others(47): Show c.385-2324_385-2323insCCCTCTCCCTCTCCCTTTCCCTCTCCCT CT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8676434	G G	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0058 a0001c0001t0016g0058	1	106	0.0094	30	c.863 others(47): Show c.863-8497_863-8496insAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8681086	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0007 a0001c0001t0014g0007	1	106	0.0094	30	c.863 others(47): Show c.863-3845_863-3844insGTGTGTGTGTATATATATATATATATAT AT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8744616	T T	TAAATAAA others(23): Show TAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01074.hp2 HG00639.hp1 HG01074.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0024 a0001c0002 a0002c0024	a0001c0002t0005 a0002c0024t0009 a0001c0002t0005 a0002c0024t0009	a0001c0002t0005g0054 a0002c0024t0009g0081 a0001c0002t0005g0054 a0002c0024t0009g0081	2	106	0.0189	30	c.252 others(49): Show c.2523+3057_2523+3086dupTAAAATAAAATAAAATAAAATAAAAT AAAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	23/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9330306	G G	GCCTCTTC others(23): Show GCCTCTTCCTCAGACTCCTCTTTGTTTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0091 a0001c0001t0003g0091	1	140	0.0071	30	c.85- others(45): Show c.85-6817_85-6788dupTCTTCCTCAGACTCCTCTTTGTTTCTCTCC	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	4/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCD1_chr3_38002496_38034642	38007400	G G	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG02717.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0002 a0001c0001t0001 a0001c0004t0002	a0001c0001t0001g0039 a0001c0004t0002g0150 a0001c0001t0001g0039 a0001c0004t0002g0150	2	362	0.0055	30	c.37 others(39): Show c.372_*373insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		95		chr3	TogoVar
PLCE1_chr10_93988931_94337823	94106912	T T	TTCTCTCT others(23): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0018 a0006c0012t0018	a0006c0012t0018g0113 a0006c0012t0018g0113	1	118	0.0085	30	c.120 others(51): Show c.1207-25259_1207-25230dupTCTCTCTCTCTCTCTCTCTCTCTC TCTCTC	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLCG2_chr16_81774291_81967685	81803558	C C	CTTCCTTT others(23): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0035 a0001c0007t0035	a0001c0007t0035g0244 a0001c0007t0035g0244	1	330	0.0030	30	c.193 others(49): Show c.193+17404_193+17405insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCG2_chr16_81774291_81967685	81824003	T T	TCTTTCCT others(23): Show TCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0013 a0001c0005t0012g0013	1	330	0.0030	30	c.194 others(49): Show c.194-30441_194-30440insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTC	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32			chr16	TogoVar
PLCG2_chr16_81774291_81967685	81824004	T T	TTTTCCTT others(23): Show TTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02735.hp1 HG02818.hp1 others(2): Show HG02486.hp2 HG02735.hp1 HG02818.hp1 HG02976.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0007 others(2): Show a0001c0002 a0001c0006 a0001c0007 a0001c0017 a0001c0060	a0001c0002t0005 a0001c0006t0007 a0001c0007t0035 others(2): Show a0001c0002t0005 a0001c0006t0007 a0001c0007t0035 a0001c0017t0005 a0001c0060t0005	a0001c0002t0005g0016 a0001c0006t0007g0160 a0001c0007t0035g0244 others(2): Show a0001c0002t0005g0016 a0001c0006t0007g0160 a0001c0007t0035g0244 a0001c0017t0005g0017 a0001c0060t0005g0240	5	330	0.0152	30	c.194 others(49): Show c.194-30423_194-30394dupTTCCTTTCCTTTCCTTTCCTTTCCTT TCCT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCH1_chr3_155474881_155750071	155568754	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0039 a0003c0007t0004g0039	1	264	0.0038	30	c.772 others(45): Show c.772-431_772-430insCACACACACACACACACACACACACACACA	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	6/22			chr3	TogoVar
PLCH1_chr3_155474881_155750071	155699822	T T	TCACACAC others(23): Show TCACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	264	0.0038	30	c.79+ others(45): Show c.79+4323_79+4324insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCL1_chr2_197799593_198154863	197924136	G G	GGGGAGAG others(23): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0115 a0002c0002t0005g0129 a0002c0002t0001g0115 a0002c0002t0005g0129	2	204	0.0098	30	c.240 others(51): Show c.240+118818_240+118847dupGAGAGGGAGAGGGAGAGGGAGAGG GAGAGG	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCXD1_chrX_276381_308356	287625	G G	GTTTATAT others(23): Show GTTTATATATAGATATAGATACTATATATGT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0117 a0001c0002t0008g0117	1	176	0.0057	30	c.128 others(47): Show c.128-1105_128-1076dupTATATATAGATATAGATACTATATATGT TT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41403408	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTGTTTTTGTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03195.hp1 HG03540.hp1 others(1): Show HG03139.hp2 HG03195.hp1 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0034 a0001c0002t0051 a0001c0002t0022 a0001c0002t0034 a0001c0002t0051	a0001c0002t0022g0224 a0001c0002t0022g0226 a0001c0002t0034g0225 others(1): Show a0001c0002t0022g0224 a0001c0002t0022g0226 a0001c0002t0034g0225 a0001c0002t0051g0165	4	244	0.0164	30	c.104 others(49): Show c.104-20875_104-20874insTAAAAAAAAACAAAAACAAAAAAAAA AAAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCZ1_chr12_18678180_18743012	18696322	C C	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18971.hp1 HG02056.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0129 a0001c0001t0001g0019 a0001c0001t0001g0129	2	326	0.0061	30	c.117 others(45): Show c.1175-57_1175-56insTATATATATATATATATATATATATATATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLCZ1_chr12_18678180_18743012	18696348	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	326	0.0031	30	c.117 others(45): Show c.1175-83_1175-82insGATATATATATATATATATATATATATATA	PLCZ1	ENSG00000139151.16	transcript	ENST00000266505.12	protein_coding	10/14			chr12	TogoVar
PLD5_chr1_242077986_242529697	242394186	A A	ATATATGT others(23): Show ATATATGTGTATATATGAGTATATATATGTG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02572.hp2 HG02622.hp1 others(3): Show HG01943.hp2 HG02572.hp2 HG02622.hp1 HG02896.hp1 HG03130.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0078 a0001c0002t0059 a0001c0002t0065	a0001c0001t0001g0031 a0001c0001t0006g0072 a0001c0001t0015g0009 others(3): Show a0001c0001t0001g0031 a0001c0001t0006g0072 a0001c0001t0015g0009 a0001c0001t0078g0183 a0001c0002t0059g0130 a0001c0002t0065g0132	6	188	0.0319	30	c.190 others(49): Show c.190-45945_190-45944insCACATATATATACTCATATATACACA TATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242494091	T T	TTCCCCTC others(23): Show TTCCCCTCTCCTCCCCTCTCCTCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03225.hp1 NA18906.hp1 HG03041.hp2 HG03225.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0041 a0001c0002t0003 a0001c0001t0008 a0001c0001t0041 a0001c0002t0003	a0001c0001t0008g0038 a0001c0001t0041g0008 a0001c0002t0003g0143 a0001c0001t0008g0038 a0001c0001t0041g0008 a0001c0002t0003g0143	3	188	0.0160	30	c.189 others(49): Show c.189+29967_189+29996dupGGAGAGGGGAGGAGAGGGGAGGAGAG GGGA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19167405	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0309 a0001c0001t0007g0309	1	316	0.0032	30	c.227 others(49): Show c.227+34984_227+34985insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0219 a0001c0001t0009g0219	1	316	0.0032	30	c.228 others(45): Show c.228-850_228-849insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(23): Show AAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0070 a0001c0001t0002g0070	1	316	0.0032	30	c.244 others(49): Show c.2449-1685_2449-1684insAAAAAAAAAAAATATATATATATATA TATA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar

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