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
PTGER4_chr5_40674915_40698735	40697270	G G	GAATAAGA others(22): Show GAATAAGAAAGAAAAGAAAGAAGAAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	29	c.48 others(40): Show c.4892_*4893insAATAAGAAAGAAAAGAAAGAAGAAAGAAA	PTGER4	ENSG00000171522.6	transcript	ENST00000302472.4	protein_coding		3536		chr5	TogoVar
PTGES3_chr12_56658349_56693284	56674825	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG04199.hp1 NA18968.hp2 others(1): Show HG02109.hp2 HG04199.hp1 NA18968.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0111 a0001c0001t0001g0233	4	372	0.0108	29	c.3-1 others(42): Show c.3-1789_3-1761dupTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTGES3	ENSG00000110958.16	transcript	ENST00000262033.11	protein_coding	1/7			chr12	TogoVar
PTGIS_chr20_49498874_49573137	49519933	G G	GCTCCTCT others(22): Show GCTCCTCTCTGAGAGGAGGCTCCTCAGAGC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp2 HG02258.hp2 others(12): Show HG01175.hp2 HG02109.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG03195.hp1 HG03453.hp1 HG04199.hp1 HG06807.hp2 NA19030.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0031	a0001c0001t0007 a0001c0001t0012 a0001c0001t0023 others(10): Show a0001c0001t0007 a0001c0001t0012 a0001c0001t0023 a0001c0001t0040 a0001c0001t0057 a0001c0001t0074 a0001c0002t0002 a0001c0002t0030 a0001c0004t0022 a0001c0006t0014 a0001c0006t0017 a0001c0006t0037 a0001c0031t0017	a0001c0001t0007g0118 a0001c0001t0012g0202 a0001c0001t0023g0043 others(12): Show a0001c0001t0007g0118 a0001c0001t0012g0202 a0001c0001t0023g0043 a0001c0001t0040g0082 a0001c0001t0057g0106 a0001c0001t0074g0146 a0001c0002t0002g0163 a0001c0002t0002g0176 a0001c0002t0002g0255 a0001c0002t0030g0162 a0001c0004t0022g0013 a0001c0006t0014g0193 a0001c0006t0017g0117 a0001c0006t0037g0015 a0001c0031t0017g0125	15	316	0.0475	29	c.855 others(46): Show c.855+4124_855+4125insGCTCTGAGGAGCCTCCTCTCAGAGAGGA G	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	6/9			chr20	TogoVar
PTH2R_chr2_208401792_208499506	208408722	A A	AAGAGAGA others(22): Show AAGAGAGAGAGAGAGAGAGAGAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0179 a0001c0001t0003g0179	1	294	0.0034	29	c.75+ others(44): Show c.75+1621_75+1622insGAGAAGAGAGAGAGAGAGAGAGAGAGAGA	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(22): Show AAAAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0323 a0002c0006t0001g0323	1	328	0.0031	29	c.-38 others(48): Show c.-38+25310_-38+25311insAAAAAAAAAAAAAAAAAAATATATAT ATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2_chr8_140652900_141006282	140902924	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0207 a0001c0009t0001g0207	1	290	0.0035	29	c.-32 others(48): Show c.-32-12184_-32-12156dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	2/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43150787	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0165 a0001c0002t0001g0165	1	272	0.0037	29	c.272 others(48): Show c.2721+4090_2721+4118dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	272	0.0037	29	c.272 others(48): Show c.2722-1452_2722-1451insATATATATATATATATATATATATTT TTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(22): Show ATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	272	0.0037	29	c.272 others(48): Show c.2722-1452_2722-1451insATATATATATATATATTTTTTTTTTT TTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43163591	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	272	0.0037	29	c.27 others(40): Show c.2710_*2711insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding		1877		chr6	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02572.hp1 others(2): Show HG01891.hp2 HG02055.hp1 HG02572.hp1 HG02738.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 others(2): Show a0001c0001t0001g0065 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0204	5	296	0.0169	29	c.-1- others(46): Show c.-1-25726_-1-25725insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137324433	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	296	0.0034	29	c.-2+ others(46): Show c.-2+19005_-2+19006insATATATATATATATATATATATTTTTTT T	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTPN11_chr12_112413947_112514918	112442859	T T	TATATATA others(22): Show TATATATATATATATAAATTATATATACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	300	0.0033	29	c.15- others(44): Show c.15-3402_15-3401insAATTATATATACACATATATATATATATA	PTPN11	ENSG00000179295.19	transcript	ENST00000351677.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18522.hp1 HG03195.hp1 NA18522.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0029 a0005c0007t0029	a0005c0007t0029g0244 a0005c0007t0029g0245 a0005c0007t0029g0244 a0005c0007t0029g0245	2	272	0.0074	29	c.-15 others(50): Show c.-155+31117_-155+31118insATATATATATATATATTTTTTTTT TTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0173 a0001c0001t0002g0173	1	272	0.0037	29	c.-15 others(50): Show c.-155+31117_-155+31118insATATATATATATATATATTTTTTT TTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0018 a0001c0010t0018	a0001c0010t0018g0108 a0001c0010t0018g0108	1	272	0.0037	29	c.-15 others(50): Show c.-155+31117_-155+31118insATATATATATATATATATATTTTT TTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0112 a0001c0002t0112	a0001c0002t0112g0099 a0001c0002t0112g0099	1	272	0.0037	29	c.-15 others(50): Show c.-155+31117_-155+31118insATATATATATATATATATATATTT TTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(22): Show ATTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03098.hp2 NA18993.hp2 others(2): Show HG00639.hp2 HG03098.hp2 NA18993.hp2 NA19005.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0298 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0298 a0001c0001t0001g0307 a0001c0003t0001g0015	5	336	0.0149	29	c.64- others(44): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0365 a0001c0001t0001g0365	1	370	0.0027	29	c.859 others(46): Show c.859-5436_859-5435insATATATATATATTTTTTTTTTTTTTTTT T	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	370	0.0027	29	c.859 others(46): Show c.859-5436_859-5435insATATATATATATATATTTTTTTTTTTTT T	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12835382	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01978.hp2 HG00609.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0235 a0001c0001t0003g0232 a0001c0001t0001g0235 a0001c0001t0003g0232	2	370	0.0054	29	c.261 others(46): Show c.261+1408_261+1409insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	3/8			chr18	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	326	0.0031	29	c.64- others(46): Show c.64-10493_64-10492insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRC_chr1_198634040_198762476	198749709	C C	CATGAGAG others(22): Show CATGAGAGTTGCAATTCAATGCACAATTTA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0263 a0001c0002t0003g0263	1	296	0.0034	29	c.307 others(46): Show c.3072+160_3072+161insATGAGAGTTGCAATTCAATGCACAATTT A	PTPRC	ENSG00000081237.21	transcript	ENST00000442510.8	protein_coding	28/32			chr1	TogoVar
PTPRD_chr9_8309246_10618002	8919840	G G	GTGCATGT others(22): Show GTGCATGTATCATGCATACATAGATGTACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02683.hp1 HG01099.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0011 a0001c0012t0016 a0001c0002t0011 a0001c0012t0016	a0001c0002t0011g0030 a0001c0012t0016g0028 a0001c0002t0011g0030 a0001c0012t0016g0028	2	34	0.0588	29	c.-10 others(50): Show c.-104+98828_-104+98856dupTGTACATCTATGTATGCATGATAC ATGCA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9467588	C C	CAAAAAAA others(22): Show CAAAAAAATAATAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0025 a0001c0014t0025	a0001c0014t0025g0033 a0001c0014t0025g0033	1	34	0.0294	29	c.-23 others(50): Show c.-236-70107_-236-70106insTTTTTTTTTTTTTTTTTTATTATT TTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	8/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9998125	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03579.hp1 HG03139.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0022 a0001c0003t0007 a0001c0001t0022 a0001c0003t0007	a0001c0001t0022g0012 a0001c0003t0007g0029 a0001c0001t0022g0012 a0001c0003t0007g0029	2	34	0.0588	29	c.-47 others(50): Show c.-472+35592_-472+35593insATATATATATATATATATATATAT ATATA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	4/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10564171	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01099.hp1 HG00642.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0013 a0001c0002 a0001c0013	a0001c0002t0011 a0001c0013t0012 a0001c0002t0011 a0001c0013t0012	a0001c0002t0011g0030 a0001c0013t0012g0014 a0001c0002t0011g0030 a0001c0013t0012g0014	2	34	0.0588	29	c.-60 others(50): Show c.-600+48226_-600+48227insAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61676471	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0070 a0003c0004t0001g0070	1	94	0.0106	29	c.86- others(46): Show c.86-72404_86-72403insAAAAAAAAAAAAAAAAAAAAAAAAAGAA A	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61820603	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	94	0.0106	29	c.190 others(48): Show c.190+71647_190+71648insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62103254	T T	TGTGCATT others(22): Show TGTGCATTGTTCTAGGACAAAGTCCATTAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG00738.hp1 others(15): Show HG00639.hp1 HG00735.hp2 HG00738.hp1 HG01071.hp1 HG01071.hp2 HG01169.hp2 HG02027.hp2 HG02145.hp1 HG02559.hp2 HG02809.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03471.hp2 HG04199.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0009	a0001c0001 a0001c0005 a0001c0008 others(6): Show a0001c0001 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0002c0002 a0003c0012 a0004c0006 a0009c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0005t0001 a0001c0008t0005 a0001c0014t0015 a0001c0015t0001 a0002c0002t0002 a0003c0012t0012 a0004c0006t0002 a0009c0018t0006	a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0044 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0057 a0001c0001t0001g0090 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0089 a0001c0001t0006g0036 a0001c0005t0001g0040 a0001c0008t0005g0068 a0001c0014t0015g0005 a0001c0015t0001g0011 a0002c0002t0002g0021 a0002c0002t0002g0046 a0003c0012t0012g0049 a0004c0006t0002g0094 a0009c0018t0006g0039	18	94	0.1915	29	c.615 others(48): Show c.615+25000_615+25028dupCATTGTTCTAGGACAAAGTCCATTAA GTG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62281538	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01243.hp1 HG02965.hp2 others(2): Show HG01071.hp2 HG01243.hp1 HG02965.hp2 HG03017.hp1 HG03831.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0002c0002 a0003c0004 others(1): Show a0001c0001 a0002c0002 a0003c0004 a0004c0006	a0001c0001t0001 a0002c0002t0011 a0003c0004t0001 others(1): Show a0001c0001t0001 a0002c0002t0011 a0003c0004t0001 a0004c0006t0002	a0001c0001t0001g0042 a0001c0001t0001g0077 a0002c0002t0011g0056 others(2): Show a0001c0001t0001g0042 a0001c0001t0001g0077 a0002c0002t0011g0056 a0003c0004t0001g0048 a0004c0006t0002g0088	5	94	0.0532	29	c.376 others(44): Show c.3766-12_3766-11insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRM_chr18_7562316_8411856	7700318	C C	CTGGGGGG others(22): Show CTGGGGGGTTTTATGCCTTGTAGAACCCAG	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA21309.hp1 HG02572.hp2 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0005 a0001c0006	a0001c0005t0002 a0001c0006t0001 a0001c0005t0002 a0001c0006t0001	a0001c0005t0002g0024 a0001c0006t0001g0048 a0001c0005t0002g0024 a0001c0006t0001g0048	2	80	0.0250	29	c.74- others(46): Show c.74-73828_74-73800dupGGGGGTTTTATGCCTTGTAGAACCCAGT G	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8206268	A A	ATTTTATT others(22): Show ATTTTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19240.hp1 HG03209.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0001 a0001c0005t0001 a0001c0003t0001 a0001c0005t0001	a0001c0003t0001g0040 a0001c0005t0001g0009 a0001c0003t0001g0040 a0001c0005t0001g0009	2	80	0.0250	29	c.230 others(50): Show c.2301-37786_2301-37785insATTTTTTTTTTTTTTTTTTTTTTT TTTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	204	0.0049	29	c.358 others(48): Show c.358-56464_358-56436dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRT_chr20_42067756_43194906	42363300	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0018 a0002c0009t0001g0018	1	62	0.0161	29	c.156 others(50): Show c.1561-11016_1561-11015insAAAAAAAAAAATATATATATATAT ATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42569081	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0019 a0002c0001t0019	a0002c0001t0019g0023 a0002c0001t0019g0023	1	62	0.0161	29	c.115 others(50): Show c.1154-96520_1154-96519insATATATATATATATATATATATAT ATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTTG1IP_chr21_44844598_44878690	44863310	G G	GACACAGC others(22): Show GACACAGCCCACCACGGCCTCAGCAGCAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0090 a0001c0001t0009g0090	1	444	0.0023	29	c.169 others(46): Show c.169-2040_169-2039insTCTGCTGCTGAGGCCGTGGTGGGCTGTG T	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0143 a0001c0001t0002g0143	1	334	0.0030	29	c.364 others(48): Show c.364-10121_364-10120insAAAAAAATATATATATATATATATAT ATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA19066.hp2 HG02615.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0265 a0001c0001t0007g0201 a0001c0001t0002g0265 a0001c0001t0007g0201	2	334	0.0060	29	c.364 others(48): Show c.364-10121_364-10120insAAAAAAAAAAATATATATATATATAT ATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20261394	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	358	0.0028	29	c.222 others(46): Show c.2226-929_2226-928insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	14/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01192.hp1 NA18953.hp1 others(1): Show HG00544.hp2 HG01192.hp1 NA18953.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0105 a0001c0001t0001g0166 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0105 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0003g0177	4	358	0.0112	29	c.195 others(48): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS7_chr7_105451503_105527271	105526762	G G	GCCCTGCC others(22): Show GCCCTGCCCCCCCAGCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	350	0.0029	29	c.-47 others(40): Show c.-4744_-4743insGGGGGGGGGGGGGGGCTGGGGGGGCAGGG	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		4492		chr7	TogoVar
PVR_chr19_44638910_44671162	44667832	T T	TTTATATA others(22): Show TTTATATATAATATATACAATATATATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0203 a0001c0001t0009g0203	1	412	0.0024	29	c.60 others(40): Show c.6021_*6022insTTATATATAATATATACAATATATATAAA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1671		chr19	TogoVar
PVR_chr19_44638910_44671162	44667876	T T	TAAATATA others(22): Show TAAATATATATAAATTATATATAATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 NA19058.hp2 HG02818.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0121 a0001c0001t0091 a0001c0001t0121	a0001c0001t0091g0151 a0001c0001t0121g0193 a0001c0001t0091g0151 a0001c0001t0121g0193	2	412	0.0049	29	c.60 others(40): Show c.6065_*6066insAAATATATATAAATTATATATAATATATA	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1715		chr19	TogoVar
PVR_chr19_44638910_44671162	44667887	A A	AAATGTAT others(22): Show AAATGTATATATAATATATAAAATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0112 a0003c0003t0112	a0003c0003t0112g0034 a0003c0003t0112g0034	1	412	0.0024	29	c.60 others(40): Show c.6076_*6077insAATGTATATATAATATATAAAATATATAT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		1726		chr19	TogoVar
PVR_chr19_44638910_44671162	44668655	T T	TTATATAA others(22): Show TTATATAATTATATACACATATTATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0144 a0002c0002t0016g0144	1	412	0.0024	29	c.68 others(40): Show c.6844_*6845insTATATAATTATATACACATATTATATATG	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2494		chr19	TogoVar
PWWP2B_chr10_132392200_132422859	132419480	G G	GGGGGCCT others(22): Show GGGGGCCTGGAGGAGGGGTCTCCTGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	374	0.0027	29	c.24 others(40): Show c.2436_*2437insGGGGCCTGGAGGAGGGGTCTCCTGGGGGA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1622		chr10	TogoVar
PWWP2B_chr10_132392200_132422859	132419598	G G	GGCCTGGA others(22): Show GGCCTGGAGGAGGGGTCTCCTGGGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02809.hp2 NA18522.hp2 HG02647.hp1 HG02809.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0010 a0001c0001 a0003c0010	a0001c0001t0001 a0003c0010t0001 a0001c0001t0001 a0003c0010t0001	a0001c0001t0001g0058 a0003c0010t0001g0080 a0003c0010t0001g0082 a0001c0001t0001g0058 a0003c0010t0001g0080 a0003c0010t0001g0082	3	374	0.0080	29	c.25 others(40): Show c.2554_*2555insGCCTGGAGGAGGGGTCTCCTGGGGGGGGT	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		1740		chr10	TogoVar
PXDNL_chr8_51314577_51814445	51534544	C C	CGCCCCTA others(22): Show CGCCCCTACTGGGAAGTGAGGACCCCTCTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp2 HG02486.hp1 others(2): Show HG01884.hp1 HG02109.hp2 HG02486.hp1 HG02559.hp1 NA19043.hp2	a0002 a0005 a0018 others(1): Show a0002 a0005 a0018 a0032	a0002c0002 a0005c0015 a0018c0049 others(1): Show a0002c0002 a0005c0015 a0018c0049 a0032c0048	a0002c0002t0001 a0005c0015t0001 a0018c0049t0003 others(1): Show a0002c0002t0001 a0005c0015t0001 a0018c0049t0003 a0032c0048t0001	a0002c0002t0001g0067 a0002c0002t0001g0068 a0005c0015t0001g0030 others(2): Show a0002c0002t0001g0067 a0002c0002t0001g0068 a0005c0015t0001g0030 a0018c0049t0003g0014 a0032c0048t0001g0069	5	122	0.0410	29	c.380 others(48): Show c.380+22295_380+22296insCAGAGGGGTCCTCACTTCCCAGTAGG GGC	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	4/22			chr8	TogoVar
PXMP2_chr12_132682587_132709985	132693621	C C	CAGTTAGT others(22): Show CAGTTAGTTAGTGAGCTCCCTTAGCCAGTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01168.hp1 others(12): Show HG00280.hp1 HG00639.hp2 HG01168.hp1 HG01169.hp2 HG02027.hp2 HG04204.hp2 NA18942.hp1 NA18955.hp2 NA18977.hp2 NA18990.hp1 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0003 a0001c0003t0003 a0001c0008t0003	a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 others(9): Show a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 a0001c0003t0003g0046 a0001c0003t0003g0047 a0001c0003t0003g0147 a0001c0003t0003g0148 a0001c0003t0003g0151 a0001c0003t0003g0152 a0001c0003t0003g0156 a0001c0003t0003g0170 a0001c0008t0003g0095	15	350	0.0429	29	c.237 others(46): Show c.237-2260_237-2259insTAGTTAGTGAGCTCCCTTAGCCAGTTAG T	PXMP2	ENSG00000176894.10	transcript	ENST00000317479.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr12	TogoVar

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