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
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	342	0.0029	19	c.117 others(38): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PLA2G4A_chr1_186823949_186993981	186915511	A A	ATTTTCTT others(12): Show ATTTTCTTTTCTTTTTTCAC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	310	0.0032	19	c.558 others(36): Show c.558+4122_558+4123insTTTTCTTTTCTTTTTTCAC	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	7/17			chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48057480	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0004 a0001c0015t0004	a0001c0015t0004g0104 a0001c0015t0004g0104	1	322	0.0031	19	c.125 others(38): Show c.1258-2432_1258-2431insAAAAAAAAAAAAAAAAAAA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105941	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	322	0.0031	19	c.9-4 others(30): Show c.9-498_9-497insAAAGAAAGAAAGAAAGAAA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2R1_chr2_159927006_160067615	159935945	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0088 a0001c0003t0088	a0001c0003t0088g0184 a0001c0003t0088g0184	1	326	0.0031	19	c.58 others(30): Show c.5814_*5832dupAAAAAAAAAAAAAAAAAAA	PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30	5832		chr2	TogoVar
PLAAT3_chr11_63569462_63619433	63619037	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02683.hp2 HG02809.hp2 others(10): Show HG00738.hp2 HG02683.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp2 HG03471.hp1 HG03710.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0008 a0001c0001t0001g0155 a0001c0001t0001g0164 others(10): Show a0001c0001t0001g0008 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0311 a0001c0001t0002g0021 a0001c0001t0002g0056 a0001c0001t0002g0114 a0001c0001t0002g0127 a0001c0001t0004g0148 a0001c0001t0006g0334 a0001c0001t0006g0335 a0001c0001t0006g0336	13	352	0.0369	19	c.-47 others(30): Show c.-4708_-4707insTTTTTTTTTTTTTTTTTTT	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		4605		chr11	TogoVar
PLAC1_chrX_134560838_134663471	134565312	A A	ACTCTTAC others(12): Show ACTCTTACTCCTCCCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG02055.hp1 HG02280.hp1 others(7): Show HG01496.hp1 HG02055.hp1 HG02280.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03486.hp2 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0038 others(7): Show a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0082 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177	10	252	0.0397	19	c.73 others(28): Show c.731_*732insAGAAAGGGAGGAGTAAGAG	PLAC1	ENSG00000170965.10	transcript	ENST00000359237.9	protein_coding		525		chrX	TogoVar
PLB1_chr2_28491060_28649142	28562540	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03017.hp2 HG03491.hp1 others(1): Show HG01070.hp1 HG03017.hp2 HG03491.hp1 HG03492.hp1	a0005 a0010 a0005 a0010	a0005c0008 a0010c0010 a0010c0021 a0005c0008 a0010c0010 a0010c0021	a0005c0008t0001 a0010c0010t0001 a0010c0021t0001 a0005c0008t0001 a0010c0010t0001 a0010c0021t0001	a0005c0008t0001g0023 a0010c0010t0001g0017 a0010c0021t0001g0244 others(1): Show a0005c0008t0001g0023 a0010c0010t0001g0017 a0010c0021t0001g0244 a0010c0021t0001g0245	4	266	0.0150	19	c.114 others(36): Show c.1148-500_1148-482dupAAAAAAAAAAAAAAAAAAA	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	17/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLBD1_chr12_14498661_14572883	14540106	T T	TTTATATA others(12): Show TTTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18985.hp1 NA19091.hp2 HG02027.hp2 NA18985.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0001 a0002c0002t0001 a0003c0003t0001 a0001c0004t0001 a0002c0002t0001 a0003c0003t0001	a0001c0004t0001g0121 a0002c0002t0001g0232 a0003c0003t0001g0315 a0001c0004t0001g0121 a0002c0002t0001g0232 a0003c0003t0001g0315	3	360	0.0083	19	c.558 others(34): Show c.558+657_558+658insTATATATATATATATATAA	PLBD1	ENSG00000121316.11	transcript	ENST00000240617.10	protein_coding	4/10			chr12	TogoVar
PLBD2_chr12_113353587_113396629	113396605	C C	CCTTCCTT others(12): Show CCTTCCTTCCTTCCTTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	278	0.0036	19	c.79 others(30): Show c.7979_*7980insCTTCCTTCCTTCCTTCCCT	PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding		4977		chr12	TogoVar
PLCB1_chr20_8127266_8889900	8229856	C C	CATAAAAT others(12): Show CATAAAATAAAATAAAATAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01891.hp1 NA18950.hp2 HG00741.hp1 HG01891.hp1 NA18950.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0001 a0001c0003t0001 a0001c0009t0002 a0001c0002t0001 a0001c0003t0001 a0001c0009t0002	a0001c0002t0001g0020 a0001c0003t0001g0010 a0001c0009t0002g0095 a0001c0002t0001g0020 a0001c0003t0001g0010 a0001c0009t0002g0095	3	106	0.0283	19	c.177 others(38): Show c.177+79487_177+79505dupTAAAATAAAATAAAATAAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	2/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8482092	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0003 a0001c0005t0008g0003	1	106	0.0094	19	c.246 others(40): Show c.246+110654_246+110672dupTTTTTTTTTTTTTTTTTTT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8541562	G G	GAAAAGAA others(12): Show GAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	106	0.0094	19	c.247 others(38): Show c.247-86731_247-86730insAAAGAAAGAAAGAAAGAAA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB3_chr11_64246530_64272923	64257016	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00642.hp1 HG01169.hp1 others(7): Show HG00544.hp1 HG00642.hp1 HG01169.hp1 HG01261.hp2 HG01515.hp2 HG02970.hp1 HG03486.hp2 NA18960.hp1 NA18966.hp2 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0005 a0002c0013 others(1): Show a0001c0004 a0002c0005 a0002c0013 a0002c0020	a0001c0004t0002 a0002c0005t0001 a0002c0013t0001 others(1): Show a0001c0004t0002 a0002c0005t0001 a0002c0013t0001 a0002c0020t0001	a0001c0004t0002g0158 a0002c0005t0001g0016 a0002c0005t0001g0055 others(6): Show a0001c0004t0002g0158 a0002c0005t0001g0016 a0002c0005t0001g0055 a0002c0005t0001g0056 a0002c0005t0001g0135 a0002c0005t0001g0159 a0002c0013t0001g0016 a0002c0013t0001g0057 a0002c0020t0001g0016	10	382	0.0262	19	c.101 others(36): Show c.1012+257_1012+258insTTTTTTTTTTTTTCTTTTT	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding	10/30		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB4_chr20_9064087_9485808	9213128	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0082	1	140	0.0071	19	c.-78 others(36): Show c.-78-4250_-78-4232dupTTTTTTTTTTTTTTTTTTT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCD1_chr3_38002496_38034642	38033298	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0050 a0001c0013t0002g0050	1	362	0.0028	19	c.-37 others(30): Show c.-3760_-3759insAAAAAAAAAAAAAAAAAAA	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		3657		chr3	TogoVar
PLCD1_chr3_38002496_38034642	38033999	A A	ACACACAC others(12): Show ACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02615.hp1 NA18947.hp2 others(2): Show HG00639.hp2 HG02615.hp1 NA18947.hp2 NA18970.hp1 NA18970.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0092 a0002c0002t0001g0099	5	362	0.0138	19	c.-44 others(30): Show c.-4461_-4460insGTGTGTGTGTGTGTGTGTG	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		4358		chr3	TogoVar
PLCD4_chr2_218602899_218642175	218616898	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	298	0.0034	19	c.181 others(34): Show c.181+836_181+837insATATATATATATATATATA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15			chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616960	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0072 a0001c0001t0004g0072	1	298	0.0034	19	c.181 others(34): Show c.181+916_181+917insTGAGAGAGAGAGAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCE1_chr10_93988931_94337823	94106912	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA20300.hp2 NA19070.hp1 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0002 a0002c0004t0001 a0002c0004t0002	a0002c0004t0001g0076 a0002c0004t0002g0081 a0002c0004t0001g0076 a0002c0004t0002g0081	2	118	0.0170	19	c.120 others(40): Show c.1207-25262_1207-25261insCTCTCTCTCTCTCTCTCTC	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	2/32			chr10	TogoVar
PLCE1_chr10_93988931_94337823	94179512	G G	GTTTTTTT others(12): Show GTTTTTTTTTGTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0005 a0003c0002t0005	a0003c0002t0005g0111 a0003c0002t0005g0111	1	118	0.0085	19	c.180 others(38): Show c.1809+8025_1809+8026insGTTTTTTGTTTTTTTTTTT	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLCE1_chr10_93988931_94337823	94179512	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG02523.hp1 others(1): Show HG01175.hp2 HG01255.hp1 HG02523.hp1 NA19065.hp2	a0004 a0006 a0012 others(1): Show a0004 a0006 a0012 a0013	a0004c0008 a0006c0012 a0012c0029 others(1): Show a0004c0008 a0006c0012 a0012c0029 a0013c0031	a0004c0008t0051 a0006c0012t0042 a0012c0029t0016 others(1): Show a0004c0008t0051 a0006c0012t0042 a0012c0029t0016 a0013c0031t0006	a0004c0008t0051g0070 a0006c0012t0042g0114 a0012c0029t0016g0115 others(1): Show a0004c0008t0051g0070 a0006c0012t0042g0114 a0012c0029t0016g0115 a0013c0031t0006g0061	4	118	0.0339	19	c.180 others(38): Show c.1809+8034_1809+8035insTTTTTTTTTTTTTTTTTTT	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLCE1_chr10_93988931_94337823	94179530	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG02723.hp2 others(1): Show HG02145.hp1 HG02647.hp2 HG02723.hp2 NA18612.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0010 a0003c0006 a0001c0001 a0002c0010 a0003c0006	a0001c0001t0060 a0002c0010t0068 a0003c0006t0053 others(1): Show a0001c0001t0060 a0002c0010t0068 a0003c0006t0053 a0003c0006t0086	a0001c0001t0060g0062 a0002c0010t0068g0064 a0003c0006t0053g0063 others(1): Show a0001c0001t0060g0062 a0002c0010t0068g0064 a0003c0006t0053g0063 a0003c0006t0086g0014	4	118	0.0339	19	c.180 others(38): Show c.1809+8034_1809+8035insTTTTTTTTTTTTTTTTTGA	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	4/32			chr10	TogoVar
PLCG2_chr16_81774291_81967685	81802093	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0315 a0001c0003t0001g0315	1	330	0.0030	19	c.193 others(38): Show c.193+15931_193+15949dupTTTTTTTTTTTTTTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCG2_chr16_81774291_81967685	81874948	G G	GTTTTTTT others(12): Show GTTTTTTTGTTTTTTTGTTC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0067 a0001c0022t0067	a0001c0022t0067g0219 a0001c0022t0067g0219	1	330	0.0030	19	c.648 others(36): Show c.648+4020_648+4021insGTTTTTTTGTTCTTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCH1_chr3_155474881_155750071	155737231	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02155.hp2 HG02630.hp1 others(2): Show HG01884.hp2 HG02155.hp2 HG02630.hp1 NA19043.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0020 a0001c0001 a0001c0002 a0001c0020	a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0003 a0001c0020t0001	a0001c0001t0001g0008 a0001c0001t0002g0006 a0001c0002t0003g0022 others(2): Show a0001c0001t0001g0008 a0001c0001t0002g0006 a0001c0002t0003g0022 a0001c0002t0003g0026 a0001c0020t0001g0027	5	264	0.0189	19	c.-41 others(36): Show c.-41+7608_-41+7609insTTTTTTTTTTTTTTTTTTT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22			chr3	TogoVar
PLCH1_chr3_155474881_155750071	155741684	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03098.hp1 HG02630.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0018 a0001c0002t0003g0026 a0001c0001t0001g0018 a0001c0002t0003g0026	2	264	0.0076	19	c.-41 others(36): Show c.-41+3137_-41+3155dupAAAAAAAAAAAAAAAAAAA	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	1/22			chr3	TogoVar
PLCL1_chr2_197799593_198154863	198136489	T T	TCTAGTCT others(12): Show TCTAGTCTAGAGACTAGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0055 a0001c0001t0047g0055	1	204	0.0049	19	c.310 others(40): Show c.3106-10280_3106-10262dupGACTAGAGACTAGTCTAGA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCL2_chr3_16879955_17095604	16904306	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 NA18522.hp1 others(1): Show HG02055.hp1 HG02976.hp2 NA18522.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0012t0001g0005	4	250	0.0160	19	c.327 others(38): Show c.327+18951_327+18952insAAAAAAAAAAAAAAAAAAA	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLCXD1_chrX_276381_308356	280476	G G	GGGAGGCC others(12): Show GGGAGGCCGTGCAGGGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0114 a0001c0001t0114	a0001c0001t0114g0013 a0001c0001t0114g0013	1	176	0.0057	19	c.-12 others(30): Show c.-1230_-1229insGGAGGCCGTGCAGGGGGAA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		904		chrX	TogoVar
PLCXD1_chrX_276381_308356	280834	G G	GGAAGGAG others(12): Show GGAAGGAGGCCGTGCAGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0164 a0001c0001t0041g0164	1	176	0.0057	19	c.-87 others(28): Show c.-872_-871insGAAGGAGGCCGTGCAGGCA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		546		chrX	TogoVar
PLCXD1_chrX_276381_308356	281022	A A	AGGCCGTG others(12): Show AGGCCGTGCAGGGGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	176	0.0057	19	c.-68 others(28): Show c.-684_-683insGGCCGTGCAGGGGGAGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		358		chrX	TogoVar
PLCXD1_chrX_276381_308356	281081	A A	AGGCCGTG others(12): Show AGGCCGTGCAGGCGGAGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01496.hp2 HG01891.hp2 others(7): Show HG00735.hp2 HG01496.hp2 HG01891.hp2 HG02148.hp2 HG02615.hp2 HG02723.hp1 HG03516.hp1 NA18941.hp1 NA18948.hp1 NA19009.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0008 a0001c0001 a0001c0003 a0010c0008	a0001c0001t0009 a0001c0001t0025 a0001c0001t0026 others(7): Show a0001c0001t0009 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0030 a0001c0001t0086 a0001c0001t0087 a0001c0003t0036 a0001c0003t0051 a0010c0008t0077	a0001c0001t0009g0065 a0001c0001t0025g0079 a0001c0001t0026g0064 others(7): Show a0001c0001t0009g0065 a0001c0001t0025g0079 a0001c0001t0026g0064 a0001c0001t0027g0059 a0001c0001t0030g0062 a0001c0001t0086g0061 a0001c0001t0087g0060 a0001c0003t0036g0006 a0001c0003t0051g0071 a0010c0008t0077g0072	10	176	0.0568	19	c.-62 others(28): Show c.-625_-624insGGCCGTGCAGGCGGAGGGG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		299		chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41440249	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01952.hp1 HG01928.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0134 a0001c0001t0004g0135 a0001c0001t0002g0134 a0001c0001t0004g0135	2	244	0.0082	19	c.104 others(38): Show c.104-57716_104-57715insCAAAAAAAAAAAAAAAAAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLD1_chr3_171595404_171815483	171710872	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0159 a0002c0003t0005g0159	1	294	0.0034	19	c.912 others(36): Show c.912-1182_912-1164dupAAAAAAAAAAAAAAAAAAA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	9/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171770888	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp2 HG03471.hp1 others(1): Show HG02630.hp1 HG02818.hp2 HG03471.hp1 NA19030.hp2	a0001 a0014 a0001 a0014	a0001c0002 a0001c0005 a0014c0022 a0001c0002 a0001c0005 a0014c0022	a0001c0002t0007 a0001c0005t0027 a0014c0022t0007 a0001c0002t0007 a0001c0005t0027 a0014c0022t0007	a0001c0002t0007g0090 a0001c0002t0007g0286 a0001c0005t0027g0277 others(1): Show a0001c0002t0007g0090 a0001c0002t0007g0286 a0001c0005t0027g0277 a0014c0022t0007g0285	4	294	0.0136	19	c.-31 others(38): Show c.-31-32825_-31-32807dupTTTTTTTTTTTTTTTTTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171808815	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp1 HG06807.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0257 a0001c0002t0002g0258	2	294	0.0068	19	c.-32 others(36): Show c.-32+1565_-32+1583dupAAAAAAAAAAAAAAAAAAA	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242168846	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02145.hp1 HG03130.hp2 HG00597.hp2 HG02145.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0057 a0001c0001t0001 a0001c0001t0015 a0001c0001t0057	a0001c0001t0001g0011 a0001c0001t0015g0009 a0001c0001t0057g0124 a0001c0001t0001g0011 a0001c0001t0015g0009 a0001c0001t0057g0124	3	188	0.0160	19	c.736 others(38): Show c.736-44200_736-44182dupAAAAAAAAAAAAAAAAAAA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242246517	A A	ACACACAC others(12): Show ACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0018 a0001c0001t0031g0018	1	188	0.0053	19	c.607 others(38): Show c.607+18819_607+18820insGTGTGTGTGTGTGTGTGTG	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	4/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242382128	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	188	0.0053	19	c.190 others(38): Show c.190-33887_190-33886insTTTTTTTTTTTTTTTTTTT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242404875	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02572.hp1 others(2): Show HG01243.hp2 HG01891.hp1 HG02572.hp1 HG02723.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0015 a0001c0001t0042 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0001t0042 a0001c0002t0003	a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0015g0036 others(2): Show a0001c0001t0005g0024 a0001c0001t0005g0026 a0001c0001t0015g0036 a0001c0001t0042g0010 a0001c0002t0003g0126	5	188	0.0266	19	c.190 others(38): Show c.190-56652_190-56634dupAAAAAAAAAAAAAAAAAAA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA2_chr8_38896346_38978912	38933790	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01081.hp1 others(19): Show HG00099.hp1 HG00738.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01496.hp2 HG01978.hp2 HG02004.hp1 HG02145.hp1 HG02148.hp1 HG03239.hp1 HG03486.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA19240.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0006 a0001c0001 a0002c0002 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0012 a0001c0001t0022 a0001c0001t0034 a0001c0001t0038 a0002c0002t0001 a0003c0006t0001	a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0031 others(19): Show a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0103 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0225 a0001c0001t0002g0036 a0001c0001t0002g0212 a0001c0001t0003g0208 a0001c0001t0003g0210 a0001c0001t0011g0166 a0001c0001t0012g0230 a0001c0001t0022g0223 a0001c0001t0034g0181 a0001c0001t0038g0198 a0002c0002t0001g0231 a0003c0006t0001g0050	22	376	0.0585	19	c.142 others(36): Show c.142-2200_142-2199insAAAAAAAAAAAAAAGAAAA	PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHA3_chr2_178475457_178521463	178507658	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02647.hp2 HG03486.hp2 HG02647.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0192 a0001c0002t0193 a0001c0002t0192 a0001c0002t0193	a0001c0002t0192g0048 a0001c0002t0193g0048 a0001c0002t0192g0048 a0001c0002t0193g0048	2	382	0.0052	19	c.37 others(30): Show c.3789_*3807dupTTTTTTTTTTTTTTTTTTT	PLEKHA3	ENSG00000116095.11	transcript	ENST00000234453.10	protein_coding	8/8	3808	INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHA4_chr19_48832097_48873617	48858627	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp2 HG03041.hp2 others(1): Show HG01433.hp1 HG02145.hp2 HG03041.hp2 NA20805.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0004c0004t0002 a0002c0002t0002 a0004c0004t0002	a0002c0002t0002g0024 a0002c0002t0002g0093 a0002c0002t0002g0094 others(1): Show a0002c0002t0002g0024 a0002c0002t0002g0093 a0002c0002t0002g0094 a0004c0004t0002g0090	4	300	0.0133	19	c.972 others(34): Show c.972+232_972+233insTTTTTTTTTTTTTTTTTTT	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding	8/19			chr19	TogoVar
PLEKHA5_chr12_19124733_19381400	19253064	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01256.hp1 HG02040.hp2 others(1): Show HG00323.hp2 HG01256.hp1 HG02040.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0004g0180 others(1): Show a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0004g0180 a0001c0001t0004g0185	4	316	0.0127	19	c.228 others(34): Show c.228-868_228-850dupTTTTTTTTTTTTTTTTTTT	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(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03098.hp1 HG03209.hp2 others(2): Show HG01192.hp1 HG03098.hp1 HG03209.hp2 HG03471.hp2 NA18612.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0009 a0005c0012 a0001c0001 a0001c0009 a0005c0012	a0001c0001t0002 a0001c0001t0005 a0001c0009t0003 others(1): Show a0001c0001t0002 a0001c0001t0005 a0001c0009t0003 a0005c0012t0005	a0001c0001t0002g0077 a0001c0001t0002g0127 a0001c0001t0005g0067 others(2): Show a0001c0001t0002g0077 a0001c0001t0002g0127 a0001c0001t0005g0067 a0001c0009t0003g0146 a0005c0012t0005g0068	5	316	0.0158	19	c.244 others(38): Show c.2449-1685_2449-1684insAAAAAAAAAAATATATATA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19334829	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0131 a0004c0008t0002g0131	1	316	0.0032	19	c.244 others(38): Show c.2449-1685_2449-1684insAAAAAAAAATATATATATA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	20/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19379903	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	316	0.0032	19	c.43 others(30): Show c.4384_*4385insAAAAAAAAAAAAAAAAAAA	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding		3504		chr12	TogoVar
PLEKHA6_chr1_204213853_204364929	204222049	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0059 a0001c0009t0059	a0001c0009t0059g0240 a0001c0009t0059g0240	1	270	0.0037	19	c.73 others(28): Show c.738_*739insGAGAGAGAGAGAGAGAGAG	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	23/23	1420		chr1	TogoVar
PLEKHA7_chr11_16772297_17019414	16889420	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0203 a0001c0003t0003g0203	1	244	0.0041	19	c.222 others(38): Show c.222-18239_222-18238insATATATATTTTTTTTTTTT	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar

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