Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PSME4_chr2_53859069_53975993	53876716	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0324 a0001c0005t0001g0324	1	384	0.0026	34	c.481 others(51): Show c.4816-962_4816-961insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	41/46			chr2	TogoVar
PSMF1_chr20_1113602_1177246	1133569	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0055 a0004c0005t0055	a0004c0005t0055g0159 a0004c0005t0055g0159	1	326	0.0031	34	c.366 others(51): Show c.366-1551_366-1550insATATATATATATATATATATATATATTT TTTTTT	PSMF1	ENSG00000125818.18	transcript	ENST00000335877.11	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PSMG4_chr6_3253947_3273049	3260291	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	412	0.0024	34	c.174 others(51): Show c.174+1096_174+1097insATATATATATATATATATATTTTTTTTT TTTTTT	PSMG4	ENSG00000180822.12	transcript	ENST00000438998.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTBP2_chr1_96716784_96820049	96799294	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18966.hp1 HG02109.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0322 a0001c0002t0001g0335 a0001c0002t0001g0322 a0001c0002t0001g0335	2	364	0.0055	34	c.905 others(51): Show c.905-5487_905-5486insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTBP3_chr9_112213435_112338619	112320291	A A	AAAAAAAA others(27): Show AAAAAAAAAATACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA20300.hp1 HG02280.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0037 a0001c0001t0025 a0001c0001t0037	a0001c0001t0025g0313 a0001c0001t0037g0314 a0001c0001t0025g0313 a0001c0001t0037g0314	2	342	0.0059	34	c.-52 others(53): Show c.-52+13178_-52+13179insATATATATATATATATATATATGTAT TTTTTTTT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	1/13			chr9	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0016 a0001c0014t0016	a0001c0014t0016g0247 a0001c0014t0016g0247	1	380	0.0026	34	c.-20 others(45): Show c.-2010_-2009insAAAAAAAATATATATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATGTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0216 a0001c0003t0003g0216	1	380	0.0026	34	c.-20 others(45): Show c.-2010_-2009insAAAAAAAACATATATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCD1_chr7_99411739_99443798	99440674	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(9): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01123.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp1 HG03540.hp2 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0003 a0001c0003t0011 a0001c0003t0001 a0001c0003t0003 a0001c0003t0011	a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0214 others(5): Show a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0214 a0001c0003t0003g0041 a0001c0003t0003g0219 a0001c0003t0003g0223 a0001c0003t0003g0226 a0001c0003t0011g0225	12	380	0.0316	34	c.-20 others(45): Show c.-2010_-2009insAAAAAAAAAACATATATATATATATATATATATA	PTCD1	ENSG00000106246.18	transcript	ENST00000292478.9	protein_coding		1877		chr7	TogoVar
PTCHD4_chr6_47851673_48116197	47882741	G G	GAGATATA others(27): Show GAGATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA20805.hp1 HG02071.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0043 a0001c0001t0039 a0001c0001t0043	a0001c0001t0039g0038 a0001c0001t0043g0028 a0001c0001t0039g0038 a0001c0001t0043g0028	2	182	0.0110	34	c.899 others(51): Show c.899-2806_899-2805insATATATATATATATATATATATATATAT ATATCT	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	4/4			chr6	TogoVar
PTCHD4_chr6_47851673_48116197	48098344	T T	TCTTCTTC others(27): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0011 a0004c0009t0011	a0004c0009t0011g0116 a0004c0009t0011g0116	1	182	0.0055	34	c.-97 others(55): Show c.-970+12704_-970+12705insGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAG	PTCHD4	ENSG00000244694.8	transcript	ENST00000339488.9	protein_coding	1/4			chr6	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18612.hp1 NA18998.hp1 HG02027.hp1 NA18612.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0211 a0001c0001t0001g0036 a0001c0001t0001g0081 a0001c0001t0001g0211	3	372	0.0081	34	c.3-1 others(47): Show c.3-1761_3-1760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGR1_chr9_111557567_111604647	111560974	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	408	0.0025	34	c.21 others(45): Show c.2146_*2147insCTCTCTATATATATATATATATATATATATATAT	PTGR1	ENSG00000106853.20	transcript	ENST00000407693.7	protein_coding		1592		chr9	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(27): Show AAGAGAGAGAGAGAGAGAGAGAAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0176 a0001c0001t0003g0176	1	294	0.0034	34	c.75+ others(49): Show c.75+1621_75+1622insGAGAAAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	PTH2R	ENSG00000144407.10	transcript	ENST00000272847.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTK2B_chr8_27320552_27464386	27414608	G G	GTGTGTGT others(27): Show GTGTGTGTGTGTGTGTGTGTGTATGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0023 a0002c0023	a0002c0023t0001 a0002c0023t0001	a0002c0023t0001g0123 a0002c0023t0001g0123	1	328	0.0031	34	c.205 others(51): Show c.205-5274_205-5273insGTGTGTGTATGTGTGTGTGTTTGTGTGT GTGTGT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	2/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	296	0.0034	34	c.-2+ others(51): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT TTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	296	0.0034	34	c.-2+ others(51): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAATATA others(27): Show AAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	296	0.0034	34	c.-2+ others(51): Show c.-2+19005_-2+19006insATATATATATATATATATATATATATAT ATATTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN12_chr7_77532295_77645069	77625472	G G	GCTCGCGC others(27): Show GCTCGCGCGCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	310	0.0032	34	c.102 others(53): Show c.1026-1230_1026-1229insGCGCGCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	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(27): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp2 HG00735.hp1 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0143 a0001c0001t0001g0146	2	310	0.0065	34	c.102 others(53): Show c.1026-1215_1026-1182dupTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0112 a0001c0001t0100g0112	1	272	0.0037	34	c.-15 others(55): Show c.-155+31117_-155+31118insATATATATATATATATATTTTTTT TTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0111	1	272	0.0037	34	c.-15 others(55): Show c.-155+31117_-155+31118insATATATATATATATATATATATTT TTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	272	0.0037	34	c.-15 others(55): Show c.-155+31117_-155+31118insATATATATATATATATATATATAT TTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN18_chr2_130351056_130380405	130361512	C C	CTCTTTCT others(27): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02809.hp1 others(1): Show HG02572.hp2 HG02630.hp1 HG02809.hp1 HG02970.hp1	a0002 a0006 a0002 a0006	a0002c0004 a0006c0009 a0002c0004 a0006c0009	a0002c0004t0009 a0006c0009t0011 a0002c0004t0009 a0006c0009t0011	a0002c0004t0009g0220 a0006c0009t0011g0030 a0002c0004t0009g0220 a0006c0009t0011g0030	4	380	0.0105	34	c.414 others(51): Show c.414+1893_414+1894insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN18_chr2_130351056_130380405	130361528	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02895.hp2 HG02897.hp1 others(3): Show HG02145.hp2 HG02895.hp2 HG02897.hp1 HG03195.hp1 NA20300.hp1 NA20300.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0004 a0003c0005t0004	a0003c0005t0004g0180 a0003c0005t0004g0181 a0003c0005t0004g0182 others(3): Show a0003c0005t0004g0180 a0003c0005t0004g0181 a0003c0005t0004g0182 a0003c0005t0004g0183 a0003c0005t0004g0184 a0003c0005t0004g0203	6	380	0.0158	34	c.414 others(51): Show c.414+1884_414+1917dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	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(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0190 a0002c0004t0004g0190	1	380	0.0026	34	c.414 others(51): Show c.414+1920_414+1921insTTTCTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	PTPN18	ENSG00000072135.13	transcript	ENST00000175756.10	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0225 a0001c0001t0024g0225	1	370	0.0027	34	c.859 others(51): Show c.859-5436_859-5435insATATATATATATATATATATATTTTTTT TTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12870426	C C	CGTATATG others(27): Show CGTATATGTATATATATATGTATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	370	0.0027	34	c.70- others(51): Show c.70-11173_70-11172insATATACATATATATACATATATATATAC ATATAC	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75530827	A A	ATATATAT others(27): Show ATATATATTATAATATATTATATATTATGATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00733.hp2 others(14): Show HG00140.hp1 HG00642.hp2 HG00733.hp2 HG01106.hp1 HG01123.hp2 HG01169.hp2 HG01346.hp2 HG02055.hp1 HG02602.hp1 HG02683.hp2 HG02896.hp1 HG03041.hp2 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04199.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0030	a0001c0001t0001g0075 a0001c0001t0003g0006 a0001c0001t0003g0008 others(14): Show a0001c0001t0001g0075 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0010g0002 a0001c0001t0010g0003 a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0007 a0001c0001t0010g0011 a0001c0001t0030g0085	17	326	0.0522	34	c.64- others(49): Show c.64-3600_64-3567dupATATATCATAATATATAATATATTATAATA TATA	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0304 a0001c0001t0035g0304	1	326	0.0031	34	c.64- others(51): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRB_chr12_70510870_70642429	70642240	T T	TTTTTTGA others(27): Show TTTTTTGAAAAGATTATAAAAAGTCAACGAAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0024 a0024	a0024c0107 a0024c0107	a0024c0107t0001 a0024c0107t0001	a0024c0107t0001g0108 a0024c0107t0001g0108	1	300	0.0033	34	c.-48 others(45): Show c.-4846_-4845insGCTCTTCGTTGACTTTTTATAATCTTTTCAAAAA	PTPRB	ENSG00000127329.16	transcript	ENST00000334414.11	protein_coding		4812		chr12	TogoVar
PTPRD_chr9_8309246_10618002	8557455	T T	TATATATA others(27): Show TATATATATATATATATATACACACATACACATAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0029 a0001c0003t0007g0029	1	34	0.0294	34	c.353 others(53): Show c.353-28677_353-28676insGTATGTGTATGTGTGTATATATATAT ATATATAT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	14/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	8682429	C C	CAATTTGA others(27): Show CAATTTGATTATTACAGATTGTATACAAGTATCAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19030.hp2 NA19240.hp1 HG00642.hp2 NA19030.hp2 NA19240.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0004 a0004c0016 a0005c0015 a0001c0004 a0004c0016 a0005c0015	a0001c0004t0018 a0004c0016t0020 a0005c0015t0010 a0001c0004t0018 a0004c0016t0020 a0005c0015t0010	a0001c0004t0018g0015 a0004c0016t0020g0011 a0005c0015t0010g0026 a0001c0004t0018g0015 a0004c0016t0020g0011 a0005c0015t0010g0026	3	34	0.0882	34	c.65- others(51): Show c.65-45586_65-45585insTTGATACTTGTATACAATCTGTAATAAT CAAATT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	12/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9208020	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0017 a0001c0010t0017	a0001c0010t0017g0016 a0001c0010t0017g0016	1	34	0.0294	34	c.-20 others(55): Show c.-202-24658_-202-24657insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9595298	A A	ATATATTA others(27): Show ATATATTATATATATTTTATATATATAATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01981.hp2 HG02055.hp2 others(3): Show HG01099.hp2 HG01981.hp2 HG02055.hp2 HG03579.hp1 NA19240.hp1 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0016 a0001c0001 a0001c0002 a0004c0016	a0001c0001t0002 a0001c0001t0019 a0001c0001t0022 others(3): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0022 a0001c0002t0009 a0001c0002t0015 a0004c0016t0020	a0001c0001t0002g0013 a0001c0001t0019g0023 a0001c0001t0022g0012 others(3): Show a0001c0001t0002g0013 a0001c0001t0019g0023 a0001c0001t0022g0012 a0001c0002t0009g0017 a0001c0002t0015g0010 a0004c0016t0020g0011	6	34	0.1765	34	c.-28 others(55): Show c.-286-20518_-286-20517insATATATATTATATATATAAAATAT ATATAATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	7/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(27): Show ATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0071 a0003c0004t0002g0071	1	94	0.0106	34	c.85+ others(51): Show c.85+58680_85+58681insATATATATATATATATATGTGTGTGTGT GTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61621051	A A	ATATATAT others(27): Show ATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	94	0.0106	34	c.85+ others(51): Show c.85+58680_85+58681insATATATATATATATGTGTGTGTGTGTGT GTGTGT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61676471	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0017 a0001c0005t0017	a0001c0005t0017g0038 a0001c0005t0017g0038	1	94	0.0106	34	c.86- others(51): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAGAAA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	94	0.0106	34	c.265 others(53): Show c.2657-1484_2657-1483insACACACACACACACACACACACACAC ACACACAC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TATACACA others(27): Show TATACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0075 a0002c0003t0002g0075	1	94	0.0106	34	c.265 others(53): Show c.2657-1513_2657-1512insTACACACACACACACACACACACACA CACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	94	0.0106	34	c.376 others(49): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7658357	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0065 a0001c0002t0001g0065	1	80	0.0125	34	c.73+ others(51): Show c.73+90469_73+90470insTATATATATATATATATATATATATACA TACATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(27): Show TACACACACACACACACACATACACACACACACAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0014 a0001c0014t0001g0014	1	80	0.0125	34	c.197 others(53): Show c.197-53596_197-53595insTACACACACACACACACACACACACA CACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7984774	C C	CATAAAAT others(27): Show CATAAAATTATATACACATATATAAATATATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp1 HG02809.hp2 others(2): Show HG01891.hp1 HG02280.hp1 HG02809.hp2 HG02896.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0001c0016 a0001c0017	a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0003t0002 a0001c0005t0002 a0001c0016t0001 a0001c0017t0001	a0001c0001t0001g0059 a0001c0003t0002g0033 a0001c0005t0002g0044 others(2): Show a0001c0001t0001g0059 a0001c0003t0002g0033 a0001c0005t0002g0044 a0001c0016t0001g0057 a0001c0017t0001g0060	5	80	0.0625	34	c.113 others(55): Show c.1132+29377_1132+29378insTATATAAATATATACATATAAAAT TATATACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8054297	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	80	0.0125	34	c.113 others(55): Show c.1133-15389_1133-15388insTATATATATATATATATATATATA TATATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32			chr18	TogoVar
PTPRM_chr18_7562316_8411856	8289473	C C	CATATATG others(27): Show CATATATGTATATATATACATATATATACACACAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02451.hp1 others(3): Show HG01884.hp1 HG02145.hp1 HG02451.hp1 NA18612.hp1 NA19043.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(2): Show a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0001c0020	a0001c0002t0001 a0001c0003t0002 a0001c0006t0002 others(2): Show a0001c0002t0001 a0001c0003t0002 a0001c0006t0002 a0001c0013t0002 a0001c0020t0001	a0001c0002t0001g0050 a0001c0003t0002g0022 a0001c0006t0002g0012 others(3): Show a0001c0002t0001g0050 a0001c0003t0002g0022 a0001c0006t0002g0012 a0001c0006t0002g0030 a0001c0013t0002g0034 a0001c0020t0001g0061	6	80	0.0750	34	c.275 others(53): Show c.2755-6891_2755-6890insATGTATATATATACATATATATACAC ACATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8344448	G G	GTGTGTGT others(27): Show GTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0006 a0001c0019t0001g0006	1	80	0.0125	34	c.305 others(51): Show c.3054+929_3054+930insGTGTGTGTATATATATATATATATATAT ATATAT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	23/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15320867	G G	GTGTACAC others(27): Show GTGTACACATATGTACATGTACACATATGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 NA21309.hp1 HG01243.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0035 a0001c0004t0001g0055 a0001c0002t0001g0035 a0001c0004t0001g0055	2	164	0.0122	34	c.-18 others(45): Show c.-1860_-1859insTGTACACATATGTACATGTACACATATGTGTATA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding		1640		chr12	TogoVar
PTPRR_chr12_70633079_70925738	70714821	C C	CAGAACAG others(27): Show CAGAACAGCAAAACCTACAAAAAAAAATACAAAAT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	204	0.0049	34	c.100 others(55): Show c.1008-13499_1008-13498insATTTTGTATTTTTTTTTGTAGGTT TTGCTGTTCT	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	6/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5303954	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAATAAATAAAAAAAAAATAATAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(49): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01361.hp1 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02074.hp1 HG02132.hp1 HG02148.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02896.hp1 HG02897.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03540.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18612.hp1 NA18945.hp1 NA18990.hp1 NA19009.hp2 NA19074.hp2 NA19084.hp2 NA20129.hp1 NA20752.hp2 NA21309.hp2	a0001 a0005 a0008 others(1): Show a0001 a0005 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(12): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0013 a0001c0033 a0001c0041 a0001c0056 a0005c0052 a0008c0045 a0010c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0025 a0001c0002t0003 a0001c0002t0009 a0001c0002t0015 a0001c0002t0022 a0001c0003t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0031 a0001c0005t0001 a0001c0006t0007 a0001c0007t0001 a0001c0007t0006 a0001c0009t0005 a0001c0013t0026 a0001c0013t0038 a0001c0013t0040 a0001c0033t0001 a0001c0041t0029 a0001c0056t0001 a0005c0052t0004 a0008c0045t0001 a0010c0038t0002	a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0115 others(49): Show a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0131 a0001c0001t0001g0185 a0001c0001t0001g0205 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0158 a0001c0001t0002g0160 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0274 a0001c0001t0006g0076 a0001c0001t0008g0171 a0001c0001t0018g0130 a0001c0001t0025g0183 a0001c0001t0025g0184 a0001c0002t0003g0108 a0001c0002t0003g0112 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0211 a0001c0002t0009g0122 a0001c0002t0015g0273 a0001c0002t0022g0008 a0001c0002t0022g0128 a0001c0003t0004g0140 a0001c0004t0005g0113 a0001c0004t0005g0172 a0001c0004t0010g0129 a0001c0004t0031g0096 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0006t0007g0142 a0001c0007t0001g0077 a0001c0007t0001g0101 a0001c0007t0001g0266 a0001c0007t0006g0004 a0001c0007t0006g0082 a0001c0007t0006g0114 a0001c0009t0005g0127 a0001c0013t0026g0072 a0001c0013t0038g0083 a0001c0013t0040g0087 a0001c0033t0001g0186 a0001c0041t0029g0021 a0001c0056t0001g0275 a0005c0052t0004g0203 a0008c0045t0001g0123 a0010c0038t0002g0204	52	276	0.1884	34	c.-94 others(53): Show c.-94-17721_-94-17720insATTATTATTTTTTTTTTATTTATTTT TTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5303954	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAATAAATAAAAAAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02486.hp2 others(9): Show HG01109.hp2 HG02145.hp1 HG02486.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03471.hp2 NA18960.hp2 NA18983.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(3): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0016 a0001c0066	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0006t0007 a0001c0006t0011 a0001c0010t0007 a0001c0016t0016 a0001c0066t0018	a0001c0001t0001g0007 a0001c0001t0002g0098 a0001c0001t0002g0099 others(9): Show a0001c0001t0001g0007 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0005t0001g0218 a0001c0006t0007g0033 a0001c0006t0011g0071 a0001c0010t0007g0039 a0001c0010t0007g0041 a0001c0016t0016g0031 a0001c0016t0016g0036 a0001c0016t0016g0040 a0001c0066t0018g0037	12	276	0.0435	34	c.-94 others(53): Show c.-94-17721_-94-17720insATTATTATTATTTTTTTATTTATTTT TTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar

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