Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	362	0.0028	28	c.-57 others(47): Show c.-57+12741_-57+12742insAAAAAAAAAATATATATATATATATA TA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01981.hp2 HG02280.hp2 HG01071.hp1 HG01981.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0015 a0001c0001t0007 a0001c0001t0008 a0001c0001t0015	a0001c0001t0007g0005 a0001c0001t0008g0272 a0001c0001t0015g0273 a0001c0001t0007g0005 a0001c0001t0008g0272 a0001c0001t0015g0273	3	362	0.0083	28	c.-57 others(47): Show c.-57+12741_-57+12742insAAAAAATATATATATATATATATATA TA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	42987404	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02965.hp2 HG02559.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0024 a0001c0001t0007g0011 a0001c0001t0001g0024 a0001c0001t0007g0011	2	362	0.0055	28	c.-57 others(47): Show c.-57+12741_-57+12742insAAAATATATATATATATATATATATA TA	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PKNOX1_chr21_42969562_43038931	43035901	A A	AATAAATA others(21): Show AATAAATAAATAAATAAATAAATAAATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01257.hp2 HG01258.hp2 others(3): Show HG01081.hp1 HG01257.hp2 HG01258.hp2 HG02258.hp2 HG03139.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0037 a0001c0001t0002 a0001c0001t0007 a0001c0001t0037	a0001c0001t0002g0189 a0001c0001t0002g0198 a0001c0001t0002g0234 others(3): Show a0001c0001t0002g0189 a0001c0001t0002g0198 a0001c0001t0002g0234 a0001c0001t0002g0246 a0001c0001t0007g0010 a0001c0001t0037g0195	6	362	0.0166	28	c.58 others(39): Show c.5800_*5801insATAAATAAATAAATAAATAAATAAATAT	PKNOX1	ENSG00000160199.15	transcript	ENST00000291547.10	protein_coding		1971		chr21	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03017.hp2 NA18612.hp2 others(3): Show HG01261.hp1 HG03017.hp2 NA18612.hp2 NA18747.hp1 NA18986.hp1 NA19064.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0001g0054 a0001c0001t0002g0022 a0001c0001t0003g0020 others(3): Show a0001c0001t0001g0054 a0001c0001t0002g0022 a0001c0001t0003g0020 a0001c0001t0003g0044 a0002c0002t0002g0053 a0002c0002t0002g0192	6	222	0.0270	28	c.-20 others(49): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAAGAAGGAA GGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03942.hp1 HG04115.hp1 others(2): Show HG00438.hp2 HG03942.hp1 HG04115.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0077 a0001c0001t0002g0078 a0001c0001t0002g0140 others(2): Show a0001c0001t0001g0077 a0001c0001t0002g0078 a0001c0001t0002g0140 a0001c0001t0003g0029 a0001c0001t0012g0051	5	222	0.0225	28	c.-20 others(49): Show c.-201+13872_-201+13873insAGAAAGAAAGAAAGAAGGAAGGAA GGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125178645	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02074.hp1 HG02630.hp1 others(2): Show HG00673.hp1 HG02074.hp1 HG02630.hp1 HG04184.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0002g0080 others(2): Show a0001c0001t0001g0090 a0001c0001t0001g0098 a0001c0001t0002g0080 a0001c0001t0003g0002 a0001c0001t0003g0096	5	222	0.0225	28	c.-20 others(49): Show c.-201+13872_-201+13873insAGAAAGAAAGAAGGAAGGAAGGAA GGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125189415	G G	GTGTGTAT others(21): Show GTGTGTATATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG04228.hp2 HG02559.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0151 a0001c0001t0004g0174 a0001c0001t0003g0151 a0001c0001t0004g0174	2	222	0.0090	28	c.-20 others(49): Show c.-201+24644_-201+24645insATATATATATGTGTGTATATATAT GTGT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(21): Show TGGACGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0172 a0001c0002t0002g0172	1	334	0.0030	28	c.702 others(43): Show c.702-413_702-412insCGGACGGACGGACGGACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP2_chr12_32785755_32901777	32806686	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	342	0.0029	28	c.201 others(47): Show c.2014-4131_2014-4130insCACACACACACACACACACACACACA CA	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	9/12			chr12	TogoVar
PKP2_chr12_32785755_32901777	32846745	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0220 a0002c0002t0001g0220	1	342	0.0029	28	c.137 others(47): Show c.1378+4020_1378+4021insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	5/12			chr12	TogoVar
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02055.hp1 HG02970.hp2 others(5): Show HG01192.hp1 HG02055.hp1 HG02970.hp2 HG03130.hp1 HG03195.hp1 HG03516.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0019 a0001c0001t0005 a0001c0001t0007 a0001c0001t0019	a0001c0001t0005g0141 a0001c0001t0005g0173 a0001c0001t0005g0179 others(5): Show a0001c0001t0005g0141 a0001c0001t0005g0173 a0001c0001t0005g0179 a0001c0001t0005g0214 a0001c0001t0007g0330 a0001c0001t0007g0335 a0001c0001t0007g0339 a0001c0001t0019g0329	8	342	0.0234	28	c.117 others(47): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	398298	C C	CCCCACAT others(21): Show CCCCACATATACCTCATCACCTCCGTACA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03130.hp1 HG02886.hp1 HG03130.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0110 a0002c0013t0001g0179 a0002c0013t0001g0110 a0002c0013t0001g0179	2	216	0.0093	28	c.106 others(45): Show c.1068+639_1068+640insACATATACCTCATCACCTCCGTACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP4_chr2_158451952_158686429	158566479	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0008 a0004c0017t0008	a0004c0017t0008g0105 a0004c0017t0008g0105	1	308	0.0033	28	c.133 others(47): Show c.133-10779_133-10778insTATATATATATATATATATATATATA TA	PKP4	ENSG00000144283.23	transcript	ENST00000389759.8	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLA2G4A_chr1_186823949_186993981	186934443	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02273.hp2 HG02148.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0197 a0001c0001t0001g0180 a0001c0001t0001g0197	2	310	0.0065	28	c.695 others(45): Show c.695+1565_695+1566insTATATATATATATATATATATATATATA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4A_chr1_186823949_186993981	186934463	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	310	0.0032	28	c.695 others(45): Show c.695+1565_695+1566insTATATATATATATATATATATATATACA	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48105933	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02293.hp1 HG02258.hp2 HG02293.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0051 a0001c0001 a0003c0051	a0001c0001t0001 a0003c0051t0004 a0001c0001t0001 a0003c0051t0004	a0001c0001t0001g0046 a0003c0051t0004g0017 a0001c0001t0001g0046 a0003c0051t0004g0017	2	322	0.0062	28	c.9-4 others(39): Show c.9-490_9-489insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105937	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	322	0.0031	28	c.9-4 others(39): Show c.9-494_9-493insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105941	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA18971.hp1 HG02451.hp2 NA18971.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0010 a0008c0010t0001 a0001c0001t0010 a0008c0010t0001	a0001c0001t0010g0010 a0008c0010t0001g0121 a0001c0001t0010g0010 a0008c0010t0001g0121	2	322	0.0062	28	c.9-4 others(39): Show c.9-498_9-497insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105943	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02074.hp2 HG01516.hp2 HG01517.hp1 HG02074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0004 a0007c0009t0016 a0001c0001t0001 a0007c0009t0004 a0007c0009t0016	a0001c0001t0001g0028 a0007c0009t0004g0072 a0007c0009t0016g0006 a0001c0001t0001g0028 a0007c0009t0004g0072 a0007c0009t0016g0006	3	322	0.0093	28	c.9-5 others(39): Show c.9-500_9-499insAGAAAGAAAGAAAGAAAGAAAGAAAGAA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105945	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG02280.hp2 others(4): Show HG02165.hp1 HG02165.hp2 HG02280.hp2 HG03704.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0003c0003 a0001c0001 a0002c0005 a0003c0003	a0001c0001t0001 a0002c0005t0001 a0003c0003t0001 a0001c0001t0001 a0002c0005t0001 a0003c0003t0001	a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0083 a0001c0001t0001g0084 a0002c0005t0001g0086 a0003c0003t0001g0081 a0003c0003t0001g0082 a0003c0003t0001g0085	7	322	0.0217	28	c.9-5 others(39): Show c.9-502_9-501insAAAGAAAGAAAGAAAGAAAGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105947	C C	CTTCTTTC others(21): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0089 a0006c0023t0001g0089	1	322	0.0031	28	c.9-5 others(39): Show c.9-531_9-504dupAGAAAGAAAGAAAGAAAGAAAGAAAGAA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2R1_chr2_159927006_160067615	159935945	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01975.hp2 HG03491.hp2 HG04184.hp1 HG01975.hp2 HG03491.hp2 HG04184.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0030 a0001c0001 a0003c0030	a0001c0001t0036 a0001c0001t0120 a0003c0030t0036 a0001c0001t0036 a0001c0001t0120 a0003c0030t0036	a0001c0001t0036g0199 a0001c0001t0120g0283 a0003c0030t0036g0209 a0001c0001t0036g0199 a0001c0001t0120g0283 a0003c0030t0036g0209	3	326	0.0092	28	c.58 others(39): Show c.5832_*5833insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30	5832		chr2	TogoVar
PLAGL1_chr6_143935300_144013259	143943031	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01978.hp2 HG02055.hp1 others(5): Show HG00558.hp2 HG01978.hp2 HG02055.hp1 HG03239.hp1 NA18940.hp1 NA18942.hp1 NA18984.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0073 a0001c0001t0001g0151 a0001c0001t0001g0152 others(5): Show a0001c0001t0001g0073 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0220 a0001c0001t0001g0236 a0001c0001t0001g0310 a0001c0001t0001g0354 a0001c0010t0002g0316	8	394	0.0203	28	c.153 others(43): Show c.153-369_153-368insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	7/7			chr6	TogoVar
PLAGL1_chr6_143935300_144013259	143985982	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 NA18968.hp1 NA18973.hp2 others(2): Show HG03654.hp2 NA18968.hp1 NA18973.hp2 NA19000.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0004t0003	a0001c0001t0001g0228 a0001c0001t0001g0306 a0001c0001t0002g0247 others(2): Show a0001c0001t0001g0228 a0001c0001t0001g0306 a0001c0001t0002g0247 a0001c0001t0003g0024 a0001c0004t0003g0045	5	394	0.0127	28	c.-58 others(45): Show c.-583-836_-583-809dupTATATATATATATATATATATATATATA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	1/7			chr6	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(21): Show TATATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18906.hp2 HG03579.hp1 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0025 a0001c0005t0004g0025	2	378	0.0053	28	c.-27 others(45): Show c.-27+3501_-27+3502insGTGTGTGTGTGTGTATATATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(21): Show TATATATATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0319 a0001c0005t0004g0319	1	378	0.0027	28	c.-27 others(45): Show c.-27+3501_-27+3502insGTGTGTGTGTGTATATATATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(21): Show TATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0316 a0001c0002t0001g0316	1	378	0.0027	28	c.-27 others(45): Show c.-27+3501_-27+3502insGTGTGTGTGTATATATATATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAT_chr8_42169718_42212565	42203992	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0337 a0001c0002t0001g0337	1	378	0.0027	28	c.-27 others(45): Show c.-27+3501_-27+3502insGTATATATATATATATATATATATATAT	PLAT	ENSG00000104368.19	transcript	ENST00000220809.9	protein_coding	1/13			chr8	TogoVar
PLAUR_chr19_43643579_43675169	43675101	T T	TGATTGAC others(21): Show TGATTGACAGTGTTCAGCTATGGCTAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0263	1	442	0.0023	28	c.-49 others(39): Show c.-4982_-4981insCCCTAGCCATAGCTGAACACTGTCAATC	PLAUR	ENSG00000011422.12	transcript	ENST00000340093.8	protein_coding		4933		chr19	TogoVar
PLCB1_chr20_8127266_8889900	8523490	C C	CCATATAT others(21): Show CCATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03130.hp1 HG03209.hp1 others(1): Show HG02559.hp1 HG03130.hp1 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0008 a0001c0002 a0001c0007 a0001c0008	a0001c0002t0004 a0001c0002t0007 a0001c0007t0001 others(1): Show a0001c0002t0004 a0001c0002t0007 a0001c0007t0001 a0001c0008t0012	a0001c0002t0004g0026 a0001c0002t0007g0027 a0001c0007t0001g0087 others(1): Show a0001c0002t0004g0026 a0001c0002t0007g0027 a0001c0007t0001g0087 a0001c0008t0012g0104	4	106	0.0377	28	c.247 others(49): Show c.247-104804_247-104803insCATATATATATATATATATATATA TATA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31			chr20	TogoVar
PLCB1_chr20_8127266_8889900	8523496	C C	CTCTCTCT others(21): Show CTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0103 a0001c0009t0002g0103	1	106	0.0094	28	c.247 others(49): Show c.247-104797_247-104796insCTCTCTCTATATATATATATATAT ATAT	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(21): Show CTCTCTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0061 a0001c0019t0001g0061	1	106	0.0094	28	c.247 others(49): Show c.247-104797_247-104796insCTCTCTCTCTCTCTCTATATATAT ATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8541562	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02559.hp1 HG02895.hp1 others(3): Show HG01934.hp1 HG02559.hp1 HG02895.hp1 HG03225.hp1 HG03471.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010	a0001c0001t0003 a0001c0003t0008 a0001c0004t0003 others(3): Show a0001c0001t0003 a0001c0003t0008 a0001c0004t0003 a0001c0006t0002 a0001c0008t0012 a0001c0010t0001	a0001c0001t0003g0062 a0001c0003t0008g0004 a0001c0004t0003g0016 others(3): Show a0001c0001t0003g0062 a0001c0003t0008g0004 a0001c0004t0003g0016 a0001c0006t0002g0048 a0001c0008t0012g0104 a0001c0010t0001g0086	6	106	0.0566	28	c.247 others(47): Show c.247-86713_247-86686dupAAAGAAAGAAAGAAAGAAAGAAAGAA AG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8541595	A A	AGAAAGAA others(21): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0020 a0001c0006t0020	a0001c0006t0020g0074 a0001c0006t0020g0074	1	106	0.0094	28	c.247 others(47): Show c.247-86686_247-86685insAAAGAAAGAAAGAAGGAAAGAAAGAA AG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662188	T T	TTTATTAT others(21): Show TTTATTATATAATTCTATATTATATATAA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0039 a0001c0004t0003g0039	1	106	0.0094	28	c.862 others(45): Show c.862+3504_862+3531dupTATATATAATTATTATATAATTCTATAT	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(21): Show GTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp2 NA19088.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0001 a0001c0001t0003 a0001c0003t0001	a0001c0001t0003g0088 a0001c0003t0001g0083 a0001c0001t0003g0088 a0001c0003t0001g0083	2	106	0.0189	28	c.863 others(45): Show c.863-3845_863-3844insGTGTGTGTATATATATATATATATATAT	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(21): Show GTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0048 a0001c0006t0002g0048	1	106	0.0094	28	c.863 others(45): Show c.863-3845_863-3844insGTGTGTGTGTATATATATATATATATAT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB3_chr11_64246530_64272923	64257016	T T	TTTTTTTT others(21): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0074 a0001c0004t0002g0074	1	382	0.0026	28	c.101 others(45): Show c.1012+257_1012+258insTTTTTTTTTTTTTTTTTTTTTTCTTTTT	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding	10/30		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB4_chr20_9064087_9485808	9156819	G G	GCCTCCCT others(21): Show GCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02622.hp1 HG02723.hp1 others(2): Show HG01978.hp1 HG02622.hp1 HG02723.hp1 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0008 others(1): Show a0001c0001 a0001c0006 a0001c0008 a0002c0002	a0001c0001t0003 a0001c0006t0001 a0001c0008t0001 others(1): Show a0001c0001t0003 a0001c0006t0001 a0001c0008t0001 a0002c0002t0001	a0001c0001t0003g0138 a0001c0006t0001g0094 a0001c0008t0001g0086 others(2): Show a0001c0001t0003g0138 a0001c0006t0001g0094 a0001c0008t0001g0086 a0002c0002t0001g0002 a0002c0002t0001g0103	5	140	0.0357	28	c.-79 others(47): Show c.-79+60485_-79+60512dupCCCTCCCTCCCTCCCTCCCTCCCTCC CT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9156851	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0106 a0002c0002t0001g0106	1	140	0.0071	28	c.-79 others(47): Show c.-79+60512_-79+60513insCCCTCCCTCCCTCCCTCCCTCCCTTC CT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB4_chr20_9064087_9485808	9156851	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	140	0.0071	28	c.-79 others(47): Show c.-79+60512_-79+60513insCCCTCCCTCCCTCCCTCCCTTCCTTC CT	PLCB4	ENSG00000101333.19	transcript	ENST00000378473.9	protein_coding	2/39		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCD1_chr3_38002496_38034642	38033976	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 NA19088.hp1 HG03669.hp1 NA19088.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0014 a0001c0001 a0005c0014	a0001c0001t0001 a0005c0014t0001 a0001c0001t0001 a0005c0014t0001	a0001c0001t0001g0007 a0005c0014t0001g0037 a0001c0001t0001g0007 a0005c0014t0001g0037	2	362	0.0055	28	c.-44 others(39): Show c.-4438_-4437insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	PLCD1	ENSG00000187091.14	transcript	ENST00000334661.5	protein_coding		4335		chr3	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(21): Show TATATATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	298	0.0034	28	c.181 others(43): Show c.181+866_181+867insTATATAGAGAGAGAGAGAGAGAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(21): Show TATATATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0221 a0001c0001t0005g0221	1	298	0.0034	28	c.181 others(43): Show c.181+866_181+867insTATATATATATAGAGAGAGAGAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(21): Show TATATATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	298	0.0034	28	c.181 others(43): Show c.181+866_181+867insTATATATATATATATAGAGAGAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0265	1	298	0.0034	28	c.181 others(43): Show c.181+866_181+867insTATATATATATATATATATAGAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(21): Show TATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	298	0.0034	28	c.181 others(43): Show c.181+866_181+867insTATATATATATATATATATATAGAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCD4_chr2_218602899_218642175	218616927	T T	TATATATA others(21): Show TATATATATATATATATATATATATAGAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0096	1	298	0.0034	28	c.181 others(43): Show c.181+866_181+867insTATATATATATATATATATATATAGAGA	PLCD4	ENSG00000115556.14	transcript	ENST00000450993.7	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLCE1_chr10_93988931_94337823	94106912	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp1 HG00735.hp1 HG01358.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0004c0044 a0001c0003 a0004c0044	a0001c0003t0076 a0004c0044t0097 a0001c0003t0076 a0004c0044t0097	a0001c0003t0076g0060 a0004c0044t0097g0009 a0001c0003t0076g0060 a0004c0044t0097g0009	2	118	0.0170	28	c.120 others(49): Show c.1207-25257_1207-25230dupTCTCTCTCTCTCTCTCTCTCTCTC TCTC	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr10	TogoVar

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