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
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA19072.hp2 NA18982.hp1 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	2	412	0.0049	26	c.174 others(43): Show c.174+1096_174+1097insATATATATATATATATATTTTTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTBP2_chr1_96716784_96820049	96730222	A A	ATTTCTGC others(19): Show ATTTCTGCTATTTTTATTTTGTTTTGC	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0294 a0001c0002t0001g0294	1	364	0.0028	26	c.39+ others(41): Show c.39+6632_39+6657dupCTGCTATTTTTATTTTGTTTTGCTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG03453.hp2 HG03540.hp1 others(1): Show HG01515.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 others(1): Show a0001c0002t0001g0293 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0308	4	364	0.0110	26	c.905 others(43): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112244289	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01433.hp2 HG03225.hp1 others(2): Show HG01192.hp2 HG01433.hp2 HG03225.hp1 HG03239.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0227 others(2): Show a0001c0001t0002g0175 a0001c0001t0002g0180 a0001c0001t0002g0227 a0001c0001t0002g0235 a0001c0001t0002g0237	5	342	0.0146	26	c.802 others(43): Show c.802+6639_802+6640insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	7/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0248 a0001c0005t0001g0248	1	342	0.0029	26	c.-52 others(45): Show c.-52+13155_-52+13156insAATATATATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTBP3_chr9_112213435_112338619	112320314	A A	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18970.hp1 HG03139.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0307 a0001c0001t0003g0113 a0001c0001t0001g0307 a0001c0001t0003g0113	2	342	0.0059	26	c.-52 others(45): Show c.-52+13155_-52+13156insAAAATATATATATATATATATATATA	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(19): Show ATATATATATATATATGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0042 a0001c0003t0003g0042	1	380	0.0026	26	c.-20 others(37): Show c.-2010_-2009insAAAAAAAAAACATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCH2_chr1_44816938_44848253	44830587	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02055.hp1 HG02080.hp1 others(9): Show HG01123.hp2 HG02055.hp1 HG02080.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02897.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03471.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0004c0025 a0001c0002 a0001c0005 a0004c0025	a0001c0002t0001 a0001c0005t0001 a0004c0025t0001 a0001c0002t0001 a0001c0005t0001 a0004c0025t0001	a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0005t0001g0007 others(6): Show a0001c0002t0001g0109 a0001c0002t0001g0116 a0001c0005t0001g0007 a0001c0005t0001g0137 a0001c0005t0001g0138 a0001c0005t0001g0139 a0001c0005t0001g0143 a0001c0005t0001g0144 a0004c0025t0001g0140	12	370	0.0324	26	c.813 others(41): Show c.813+260_813+261insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTCH2	ENSG00000117425.14	transcript	ENST00000372192.4	protein_coding	6/21			chr1	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATAGA others(19): Show GAGATAGATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	182	0.0055	26	c.899 others(43): Show c.899-2806_899-2805insATATATATATATATATATATCTATCT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(19): Show GAGATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG00735.hp2 others(13): Show HG00280.hp2 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG01358.hp2 HG01361.hp1 HG01517.hp2 HG02055.hp2 HG02559.hp2 HG02717.hp1 HG02818.hp2 HG03492.hp1 NA18939.hp2 NA18941.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 others(11): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0001t0032 a0001c0001t0053 a0001c0001t0054 a0001c0001t0057 a0001c0001t0072 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0118 a0001c0001t0125	a0001c0001t0004g0071 a0001c0001t0004g0165 a0001c0001t0010g0027 others(13): Show a0001c0001t0004g0071 a0001c0001t0004g0165 a0001c0001t0010g0027 a0001c0001t0016g0019 a0001c0001t0016g0133 a0001c0001t0032g0093 a0001c0001t0053g0096 a0001c0001t0054g0112 a0001c0001t0057g0111 a0001c0001t0072g0172 a0001c0001t0083g0062 a0001c0001t0085g0173 a0001c0001t0086g0069 a0001c0001t0087g0076 a0001c0001t0118g0053 a0001c0001t0125g0181	16	182	0.0879	26	c.899 others(43): Show c.899-2806_899-2805insATATATATATATATATATATATATCT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03041.hp2 HG03579.hp2 HG00735.hp1 HG03041.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0026 a0001c0001t0124 a0001c0001t0012 a0001c0001t0026 a0001c0001t0124	a0001c0001t0012g0052 a0001c0001t0026g0119 a0001c0001t0124g0155 a0001c0001t0012g0052 a0001c0001t0026g0119 a0001c0001t0124g0155	3	182	0.0165	26	c.899 others(43): Show c.899-2806_899-2805insATATATATATATATATATATATATAT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTEN_chr10_87858625_87976930	87858636	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0105 a0001c0001t0105	a0001c0001t0105g0292 a0001c0001t0105g0292	1	322	0.0031	26	c.-58 others(37): Show c.-5834_-5833insAAAAAAAAAAAAAAAAAAAAAAAAAA	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding		4988		chr10	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18939.hp2 NA18951.hp2 others(1): Show HG00597.hp1 NA18939.hp2 NA18951.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0110 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0082 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0229	4	372	0.0108	26	c.3-1 others(39): Show c.3-1786_3-1761dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGFR_chr1_78485974_78545701	78532390	A A	ATATATAT others(19): Show ATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03834.hp1 NA18942.hp1 HG03831.hp1 HG03834.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0208 a0001c0001t0001g0230 a0001c0001t0001g0160 a0001c0001t0001g0208 a0001c0001t0001g0230	3	386	0.0078	26	c.799 others(43): Show c.799-4009_799-4008insATATATATATATATATATGTATATAT	PTGFR	ENSG00000122420.10	transcript	ENST00000370757.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(19): Show TATATATATATAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	408	0.0025	26	c.21 others(37): Show c.2146_*2147insCTCTCTCTCTCTCTCTATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111561110	T T	TATATATA others(19): Show TATATATAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0038 a0002c0002t0001g0038	1	408	0.0025	26	c.20 others(37): Show c.2010_*2011insCTCTCTCTCTCTCTCTCTCTATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1456		chr9	TogoVar
PTGR1_chr9_111557567_111604647	111561110	T T	TATATATA others(19): Show TATATATATATATATATATATAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	408	0.0025	26	c.20 others(37): Show c.2010_*2011insCTCTCTATATATATATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1456		chr9	TogoVar
PTGR2_chr14_73846831_73890726	73876483	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG02132.hp1 others(5): Show HG00099.hp2 HG00738.hp2 HG02132.hp1 HG02155.hp2 HG02698.hp2 NA18940.hp2 NA18964.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0034 others(5): Show a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0034 a0001c0001t0004g0039 a0001c0001t0004g0042 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0056	8	420	0.0191	26	c.349 others(41): Show c.349-499_349-498insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGR2	ENSG00000140043.12	transcript	ENST00000555661.6	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTGR3_chr18_75190113_75214139	75211328	G G	GGTCGCTG others(19): Show GGTCGCTGCTGAAAGGACAGCTGCATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	434	0.0023	26	c.-22 others(37): Show c.-2271_-2270insTATGCAGCTGTCCTTTCAGCAGCGAC	PTGR3	ENSG00000180011.7	transcript	ENST00000322342.4	protein_coding		2190		chr18	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(19): Show AAGAGAGAGAGAGAGAGAGAGAAAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01261.hp1 HG02622.hp2 others(7): Show HG01175.hp1 HG01261.hp1 HG02622.hp2 HG03041.hp2 HG03516.hp2 NA18612.hp2 NA18942.hp2 NA18960.hp2 NA19059.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 others(7): Show a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0003t0003g0031 a0001c0003t0003g0156 a0001c0003t0003g0269 a0001c0003t0003g0270	10	294	0.0340	26	c.75+ others(41): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGAGAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27350990	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0227 a0001c0001t0003g0227	1	328	0.0031	26	c.-38 others(45): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAAAAAAATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27405035	C C	CCTCTCTC others(19): Show CCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02257.hp1 HG03139.hp1 others(3): Show HG01192.hp2 HG02257.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0090 a0001c0001t0003g0093 others(3): Show a0001c0001t0003g0015 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0003g0187	6	328	0.0183	26	c.204 others(43): Show c.204+7256_204+7281dupCTCTCTCTCTCTCTCTCTCTCTCTCT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(19): Show GTGTGTGTGTGTGTATGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0229 a0001c0010t0003g0229	1	328	0.0031	26	c.205 others(43): Show c.205-5272_205-5271insGTGTGTGTGTTTGTGTGTGTGTGTAT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140669301	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	290	0.0035	26	c.284 others(43): Show c.2841+400_2841+425dupTATATATATATATATATATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	33/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	141000087	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18970.hp1 NA19240.hp2 others(1): Show HG04204.hp2 NA18970.hp1 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0013 a0002c0002t0001 a0001c0001t0001 a0001c0001t0013 a0002c0002t0001	a0001c0001t0001g0253 a0001c0001t0013g0009 a0002c0002t0001g0251 others(1): Show a0001c0001t0001g0253 a0001c0001t0013g0009 a0002c0002t0001g0251 a0002c0002t0001g0252	4	290	0.0138	26	c.-12 others(45): Show c.-122+1012_-122+1037dupTGTGTGTGTGTGTGTGTGTGTGTGTG	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK6_chr20_63523001_63542376	63535904	G G	GCCCCCCC others(19): Show GCCCCCCCCCCTCACCTGGCCTCCCGC	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	344	0.0029	26	c.231 others(41): Show c.231-846_231-845insGCGGGAGGCCAGGTGAGGGGGGGGGG	PTK6	ENSG00000101213.7	transcript	ENST00000542869.3	protein_coding	1/7			chr20	TogoVar
PTK7_chr6_43071314_43166715	43145905	A A	AGAGCTGC others(19): Show AGAGCTGCGCCTTCCTCTTCATTCCCC	intron_variant intron_variant	MODIFIER	HG01261.hp2 NA18943.hp1 homoSapiens_chm13v2.hp1 HG01261.hp2 NA18943.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0070 a0003c0003t0002g0121 a0003c0003t0002g0219 a0003c0003t0002g0070 a0003c0003t0002g0121 a0003c0003t0002g0219	3	272	0.0110	26	c.264 others(43): Show c.2640+474_2640+499dupGAGCTGCGCCTTCCTCTTCATTCCCC	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	16/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTP4A2_chr1_31901421_31943368	31926149	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0006 a0001c0001t0049g0006	2	354	0.0057	26	c.-59 others(45): Show c.-593-6492_-593-6491insATATATATATATATATATATTTTTTT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	1/5			chr1	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(19): Show GCTCGCGCGCGCGCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	310	0.0032	26	c.102 others(45): Show c.1026-1230_1026-1229insGCGCGCGCGCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(19): Show GCTCGCGCGCGCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02818.hp2 NA18962.hp1 others(1): Show HG02647.hp1 HG02818.hp2 NA18962.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0112 a0001c0001t0001g0118 a0001c0001t0001g0225 a0001c0001t0001g0226	4	310	0.0129	26	c.102 others(45): Show c.1026-1230_1026-1229insGCGCGCGCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(19): Show GCTCGCGCGCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	310	0.0032	26	c.102 others(45): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(19): Show GCTCGCGCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	310	0.0032	26	c.102 others(45): Show c.1026-1230_1026-1229insGCGCTCTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCTC others(19): Show GCTCGCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0201 a0003c0006t0001g0201	1	310	0.0032	26	c.102 others(45): Show c.1026-1230_1026-1229insGCTCTCTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCTCTC others(19): Show GCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0205 a0003c0003t0001g0205	1	310	0.0032	26	c.102 others(45): Show c.1026-1207_1026-1182dupTCTCTCTCTCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN13_chr4_86589315_86820161	86705333	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0007 a0003c0002t0002g0007	1	198	0.0051	26	c.119 others(45): Show c.1195+3547_1195+3548insAAAAAAAAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	7/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN14_chr1_214343700_214556602	214364766	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG06807.hp1 HG01243.hp2 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0136 a0008c0009t0033 a0001c0001t0136 a0008c0009t0033	a0001c0001t0136g0200 a0008c0009t0033g0157 a0001c0001t0136g0200 a0008c0009t0033g0157	2	272	0.0074	26	c.327 others(42): Show c.3272-117_3272-92dupACACACACACACACACACACACACAC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	17/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214490909	G G	GGAGGGGA others(19): Show GGAGGGGAGGGAAGGGGAGGGGAGGGA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02735.hp2 HG02976.hp1 others(2): Show HG01081.hp1 HG02735.hp2 HG02976.hp1 HG03209.hp2 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0019 a0001c0001t0058 a0002c0003t0089	a0001c0001t0003g0075 a0001c0001t0004g0145 a0001c0001t0019g0024 others(2): Show a0001c0001t0003g0075 a0001c0001t0004g0145 a0001c0001t0019g0024 a0001c0001t0058g0009 a0002c0003t0089g0010	5	272	0.0184	26	c.-15 others(47): Show c.-154-25953_-154-25952insTCCCTCCCCTCCCCTTCCCTCCCC TC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0005 a0001c0001t0039g0005	1	272	0.0037	26	c.-15 others(47): Show c.-155+31117_-155+31118insATATATATATATATTTTTTTTTTT TT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214555709	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0070 a0004c0004t0073 a0004c0004t0070 a0004c0004t0073	a0004c0004t0070g0008 a0004c0004t0073g0007 a0004c0004t0070g0008 a0004c0004t0073g0007	2	272	0.0074	26	c.-46 others(37): Show c.-4682_-4681insCACACACACACACACACACACACACA	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding		4108		chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361504	T T	TTTTCTTT others(19): Show TTTTCTTTCTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0205 a0002c0004t0009g0205	1	380	0.0026	26	c.414 others(43): Show c.414+1868_414+1893dupCTTTCTTTCTTTCTTTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361536	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0123 a0002c0002t0016g0123	1	380	0.0026	26	c.414 others(43): Show c.414+1892_414+1917dupCTTTCTTTCTTTCTTTCTTTCTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN21_chr14_88460778_88560007	88518273	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0005 a0002c0002t0023g0005	1	348	0.0029	26	c.181 others(43): Show c.181-1013_181-1012insGTGTATATATATATATATATATATAT	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN2_chr18_12787152_12889237	12870275	A A	ATATATAT others(19): Show ATATATATACATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG04199.hp2 HG03710.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0318 a0001c0001t0003g0305 a0001c0001t0003g0318	2	370	0.0054	26	c.70- others(43): Show c.70-11047_70-11022dupCACATATATATGTATATGTATATATA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN4_chr2_119754922_119989899	119973655	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03579.hp2 HG02257.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0217 a0001c0001t0005g0038 a0001c0001t0002g0217 a0001c0001t0005g0038	2	252	0.0079	26	c.269 others(45): Show c.2695-3327_2695-3302dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75530687	T T	TTATAATA others(19): Show TTATAATATATATAATATATATTATTA	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19074.hp2 HG03540.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0198 a0001c0001t0008g0203 a0001c0001t0002g0198 a0001c0001t0008g0203	2	326	0.0061	26	c.64- others(41): Show c.64-3452_64-3427dupTAATAATATATATTATATATATTATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75530728	T T	TATATATT others(19): Show TATATATTATTATATAATATATATAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0216 a0001c0001t0008g0216	1	326	0.0031	26	c.64- others(41): Show c.64-3468_64-3467insTTTATATATATTATATAATAATATAT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02683.hp2 NA19086.hp2 others(1): Show HG01891.hp1 HG02683.hp2 NA19086.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0003g0017 others(1): Show a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0003g0017 a0001c0001t0003g0025	4	326	0.0123	26	c.64- others(43): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRA_chr20_2868481_3043669	2910360	A A	ATAATATA others(19): Show ATAATATATAAAATGTATATTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG03130.hp2 others(3): Show HG02280.hp1 HG02559.hp2 HG03130.hp2 HG03516.hp2 NA20129.hp2 NA21309.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0001g0141 others(3): Show a0002c0005t0001g0139 a0002c0005t0001g0140 a0002c0005t0001g0141 a0002c0005t0001g0142 a0002c0005t0001g0143 a0002c0005t0001g0144	6	356	0.0169	26	c.-12 others(47): Show c.-128-12845_-128-12844insATATATAAAATGTATATTATATAT TA	PTPRA	ENSG00000132670.21	transcript	ENST00000399903.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPRD_chr9_8309246_10618002	8782058	C C	CGTTTATG others(19): Show CGTTTATGGTATAAAACATACCATAAT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0021 a0001c0007t0021	a0001c0007t0021g0002 a0001c0007t0021g0002	1	34	0.0294	26	c.-10 others(47): Show c.-103-48138_-103-48113dupATTATGGTATGTTTTATACCATAA AC	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8948519	T T	TTATATAT others(19): Show TTATATATATATTTATATATATATTTA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02559.hp2 HG00642.hp2 HG02559.hp2	a0001 a0005 a0001 a0005	a0001c0005 a0005c0015 a0001c0005 a0005c0015	a0001c0005t0001 a0005c0015t0010 a0001c0005t0001 a0005c0015t0010	a0001c0005t0001g0019 a0005c0015t0010g0026 a0001c0005t0001g0019 a0005c0015t0010g0026	2	34	0.0588	26	c.-10 others(47): Show c.-104+70152_-104+70177dupTAAATATATATATAAATATATATA TA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar

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