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
PTK2_chr8_140652900_141006282	140902924	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	290	0.0035	19	c.-32 others(38): Show c.-32-12174_-32-12156dupAAAAAAAAAAAAAAAAAAA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	2/35			chr8	TogoVar
PTK2_chr8_140652900_141006282	140927975	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0250 a0002c0002t0002g0250	1	290	0.0035	19	c.-12 others(38): Show c.-121-2227_-121-2226insATATATATATATATATATA	PTK2	ENSG00000169398.20	transcript	ENST00000696786.1	protein_coding	1/35			chr8	TogoVar
PTK7_chr6_43071314_43166715	43122366	T T	TGGGTCAG others(12): Show TGGGTCAGGGAGCCCCGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp1 HG03579.hp2 others(1): Show HG01891.hp2 HG02109.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0014 a0001c0002t0003g0148 a0001c0002t0003g0149 others(1): Show a0001c0002t0003g0014 a0001c0002t0003g0148 a0001c0002t0003g0149 a0001c0002t0003g0150	4	272	0.0147	19	c.80- others(34): Show c.80-6610_80-6592dupGGGTCAGGGAGCCCCGGGG	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTK7_chr6_43071314_43166715	43157364	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 NA19011.hp1 HG01099.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0263 a0001c0002t0001g0262 a0001c0001t0001g0263 a0001c0002t0001g0262	2	272	0.0074	19	c.272 others(38): Show c.2722-1452_2722-1451insATATATATATATATTTTTT	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(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19240.hp2 HG02027.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0220 a0001c0002t0001g0247 a0001c0001t0001g0220 a0001c0002t0001g0247	2	272	0.0074	19	c.272 others(38): Show c.2722-1452_2722-1451insATATATATATATTTTTTTT	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(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	272	0.0037	19	c.272 others(38): Show c.2722-1452_2722-1451insATATATATATTTTTTTTTT	PTK7	ENSG00000112655.16	transcript	ENST00000230419.9	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
PTMA_chr2_231703525_231718551	231705109	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02109.hp1 others(6): Show HG01109.hp1 HG02055.hp1 HG02109.hp1 HG02257.hp2 HG02895.hp1 HG02895.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0001 a0001c0001t0004 a0001c0001t0012	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 others(3): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0004g0007 a0001c0001t0012g0007	9	392	0.0230	19	c.-35 others(30): Show c.-3598_-3597insAAAAAAAAAAAAAAAAAAA	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3415		chr2	TogoVar
PTMA_chr2_231703525_231718551	231717489	A A	AATTTTTT others(12): Show AATTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	392	0.0026	19	c.46 others(30): Show c.4638_*4639insATTTTTTTTTTTTTTTTTT	PTMA	ENSG00000187514.17	transcript	ENST00000409115.8	protein_coding		3939		chr2	TogoVar
PTN_chr7_137222341_137348733	137239407	T T	TTTATTTA others(12): Show TTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	296	0.0034	19	c.452 others(38): Show c.452-11333_452-11332insTAAATAAATAAATAAATAA	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	4/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137269624	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	296	0.0034	19	c.-1- others(36): Show c.-1-14669_-1-14651dupAAAAAAAAAAAAAAAAAAA	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137280691	T T	TAACAAAA others(12): Show TAACAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	296	0.0034	19	c.-1- others(36): Show c.-1-25718_-1-25717insTTTTTTTTTTTTTTTTGTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTN_chr7_137222341_137348733	137280699	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02922.hp2 HG03942.hp1 HG00099.hp1 HG02922.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0079 a0001c0001t0001g0028 a0001c0001t0001g0047 a0001c0001t0001g0079	3	296	0.0101	19	c.-1- others(36): Show c.-1-25744_-1-25726dupTTTTTTTTTTTTTTTTTTT	PTN	ENSG00000105894.13	transcript	ENST00000348225.7	protein_coding	1/4			chr7	TogoVar
PTOV1_chr19_49846159_49865742	49861765	A A	ACGCTACC others(12): Show ACGCTACCTGGCGCGGCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0126 a0001c0002t0001g0100 a0001c0002t0001g0126	2	426	0.0047	19	c.14 others(30): Show c.1486_*1487insCGCTACCTGGCGCGGCTCG	PTOV1	ENSG00000104960.15	transcript	ENST00000391842.6	protein_coding		1024		chr19	TogoVar
PTP4A2_chr1_31901421_31943368	31908135	T T	TATATATA others(12): Show TATATATATATATATATACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0145 a0001c0001t0145	a0001c0001t0145g0122 a0001c0001t0145g0122	1	354	0.0028	19	c.71 others(28): Show c.716_*717insTGTATATATATATATATAT	PTP4A2	ENSG00000184007.22	transcript	ENST00000647444.2	protein_coding	6/6	716		chr1	TogoVar
PTPA_chr9_129106415_129153946	129142311	C C	CTGTGCGT others(12): Show CTGTGCGTGCATTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	334	0.0030	19	c.787 others(34): Show c.787-132_787-131insTGCGTGCATTGTGTGTGTG	PTPA	ENSG00000119383.21	transcript	ENST00000393370.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PTPN12_chr7_77532295_77645069	77625468	G G	GCGCCTCT others(12): Show GCGCCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	310	0.0032	19	c.102 others(38): Show c.1026-1236_1026-1235insGCCTCTCTCTCTCTCTCTC	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PTPN13_chr4_86589315_86820161	86613633	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03041.hp1 HG02486.hp2 HG03041.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0015 a0003c0002t0002g0017 a0003c0002t0002g0015 a0003c0002t0002g0017	2	198	0.0101	19	c.-6+ others(36): Show c.-6+18862_-6+18863insAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86728643	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0016 a0003c0002t0002g0016	1	198	0.0051	19	c.160 others(38): Show c.1609-3741_1609-3723dupTTTTTTTTTTTTTTTTTTT	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	10/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN13_chr4_86589315_86820161	86757762	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0021 a0021	a0021c0030 a0021c0030	a0021c0030t0002 a0021c0030t0002	a0021c0030t0002g0013 a0021c0030t0002g0013	1	198	0.0051	19	c.322 others(36): Show c.3224-482_3224-481insAAAAAAAAAAAAAAAAAAA	PTPN13	ENSG00000163629.13	transcript	ENST00000411767.7	protein_coding	20/47		INFO_REALIGN_3_PRIME	chr4	TogoVar
PTPN14_chr1_214343700_214556602	214364806	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0054 a0001c0001t0037g0054	1	272	0.0037	19	c.327 others(36): Show c.3272-132_3272-131insCACACACACACACACACAC	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	17/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214402437	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02922.hp1 HG02735.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0181 a0001c0001t0027 a0001c0001t0181	a0001c0001t0027g0190 a0001c0001t0181g0267 a0001c0001t0027g0190 a0001c0001t0181g0267	2	272	0.0074	19	c.581 others(34): Show c.581+427_581+445dupTTTTTTTTTTTTTTTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	6/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214465035	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0103 a0001c0001t0103	a0001c0001t0103g0089 a0001c0001t0103g0089	1	272	0.0037	19	c.-15 others(34): Show c.-154-79_-154-78insGGGGGGGGGGGGGGGGGGG	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214465951	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp1 HG01069.hp2 others(7): Show HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01346.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02897.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0010 a0001c0001t0037 others(7): Show a0001c0001t0008 a0001c0001t0010 a0001c0001t0037 a0001c0001t0043 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0002t0001 a0001c0002t0145	a0001c0001t0008g0065 a0001c0001t0010g0064 a0001c0001t0037g0054 others(7): Show a0001c0001t0008g0065 a0001c0001t0010g0064 a0001c0001t0037g0054 a0001c0001t0043g0029 a0001c0001t0119g0194 a0001c0001t0120g0196 a0001c0001t0121g0199 a0001c0001t0122g0225 a0001c0002t0001g0003 a0001c0002t0145g0215	10	272	0.0368	19	c.-15 others(37): Show c.-154-1013_-154-995dupAAAAAAAAAAAAAAAAAAA	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG04228.hp2 HG02738.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0051 a0001c0001t0004 a0001c0001t0051	a0001c0001t0004g0041 a0001c0001t0051g0165 a0001c0001t0004g0041 a0001c0001t0051g0165	2	272	0.0074	19	c.-15 others(40): Show c.-155+31117_-155+31118insATATATATATATATTTTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN14_chr1_214343700_214556602	214520065	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0113 a0001c0002t0113	a0001c0002t0113g0051 a0001c0002t0113g0051	1	272	0.0037	19	c.-15 others(40): Show c.-155+31117_-155+31118insATATATATATATATATTTT	PTPN14	ENSG00000152104.12	transcript	ENST00000366956.10	protein_coding	1/18			chr1	TogoVar
PTPN1_chr20_50505383_50590241	50524569	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18950.hp2 others(2): Show HG03490.hp1 HG03492.hp1 NA18950.hp2 NA19055.hp1 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0276 a0001c0002t0001g0277 others(1): Show a0001c0002t0001g0012 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0285	5	336	0.0149	19	c.63+ others(36): Show c.63+13986_63+14004dupTTTTTTTTTTTTTTTTTTT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50534948	T T	TGAACTCC others(12): Show TGAACTCCTGCCTTCAGGCA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0312 a0001c0001t0008g0312	1	336	0.0030	19	c.63+ others(36): Show c.63+24376_63+24377insAGAACTCCTGCCTTCAGGC	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50534948	T T	TGAACTCC others(12): Show TGAACTCCTGCCTTCAGGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00438.hp1 others(115): Show HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01884.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03688.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18963.hp1 NA18964.hp1 NA18966.hp1 NA18972.hp1 NA18974.hp2 NA18981.hp1 NA18998.hp1 NA19001.hp1 NA19001.hp2 NA19030.hp2 NA19054.hp2 NA19055.hp1 NA19063.hp1 NA19065.hp1 NA19070.hp2 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0001c0002t0012 a0001c0002t0015 a0001c0002t0018 a0001c0010t0001 a0002c0008t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0109 others(111): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0109 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0002g0227 a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0065 a0001c0002t0001g0068 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0124 a0001c0002t0001g0183 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0266 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0271 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0313 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0007g0231 a0001c0002t0007g0318 a0001c0002t0011g0309 a0001c0002t0012g0291 a0001c0002t0015g0267 a0001c0002t0018g0282 a0001c0010t0001g0226 a0002c0008t0001g0278	118	336	0.3512	19	c.63+ others(36): Show c.63+24379_63+24397dupAACTCCTGCCTTCAGGCGG	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN1_chr20_50505383_50590241	50554380	A A	ATTCTCTC others(12): Show ATTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG00738.hp2 others(23): Show HG00438.hp2 HG00639.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp1 HG01255.hp2 HG01516.hp1 HG01891.hp1 HG02451.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03195.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG04184.hp1 HG04199.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp1 NA18993.hp1 NA18998.hp2 NA19003.hp2 NA19090.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0006t0001 a0001c0007t0001 a0001c0001t0001 a0001c0006t0001 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0049 others(22): Show a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0136 a0001c0001t0001g0224 a0001c0006t0001g0112 a0001c0006t0001g0116 a0001c0007t0001g0038	26	336	0.0774	19	c.64- others(34): Show c.64-6982_64-6981insTCTCTCTCTCTCTCTCTCT	PTPN1	ENSG00000196396.10	transcript	ENST00000371621.5	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr20	TogoVar
PTPN20_chr10_46906428_47007322	46953335	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	312	0.0032	19	c.340 others(36): Show c.340+6662_340+6663insCTTTCTTTCTTTCTTTCTT	PTPN20	ENSG00000204179.11	transcript	ENST00000374339.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN20_chr10_46906428_47007322	46953396	T T	TTTCTTTC others(12): Show TTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18978.hp2 NA18999.hp2 others(1): Show NA18747.hp1 NA18978.hp2 NA18999.hp2 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0141 a0002c0002t0001g0073 a0002c0002t0001g0082 others(1): Show a0001c0001t0001g0141 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0083	4	312	0.0128	19	c.340 others(36): Show c.340+6723_340+6724insCTTTCTTTCTTTCTTTCTT	PTPN20	ENSG00000204179.11	transcript	ENST00000374339.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPN21_chr14_88460778_88560007	88518414	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	348	0.0029	19	c.181 others(36): Show c.181-1154_181-1153insAAATATATATATATATATA	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN21_chr14_88460778_88560007	88518414	A A	ATATATAT others(12): Show ATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	348	0.0029	19	c.181 others(36): Show c.181-1154_181-1153insAAAAATATATATATATATA	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN21_chr14_88460778_88560007	88518415	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	348	0.0029	19	c.181 others(36): Show c.181-1155_181-1154insTATATATATATATATATAT	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding	2/18			chr14	TogoVar
PTPN21_chr14_88460778_88560007	88558466	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG06807.hp1 HG00642.hp2 HG06807.hp1	a0004 a0007 a0004 a0007	a0004c0005 a0007c0012 a0004c0005 a0007c0012	a0004c0005t0007 a0007c0012t0007 a0004c0005t0007 a0007c0012t0007	a0004c0005t0007g0069 a0007c0012t0007g0073 a0004c0005t0007g0069 a0007c0012t0007g0073	2	348	0.0058	19	c.-40 others(30): Show c.-4019_-4018insTTTTTTTTTTTTTTTTTTT	PTPN21	ENSG00000070778.13	transcript	ENST00000556564.6	protein_coding		3460		chr14	TogoVar
PTPN2_chr18_12787152_12889237	12807586	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	370	0.0027	19	c.859 others(36): Show c.859-5436_859-5435insATATATTTTTTTTTTTTTT	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	7/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12854306	G G	GCCGAGAC others(12): Show GCCGAGACGGTGCCACTGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp2 HG02630.hp1 others(1): Show HG02109.hp2 HG02559.hp2 HG02630.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0220 a0001c0001t0002g0221 others(1): Show a0001c0001t0002g0194 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0228	4	370	0.0108	19	c.160 others(36): Show c.160+4839_160+4857dupTGCAGTGGCACCGTCTCGG	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	2/8			chr18	TogoVar
PTPN2_chr18_12787152_12889237	12877875	G G	GTGGCGGG others(12): Show GTGGCGGGCGCCTGTAGTGT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp2 HG03139.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0075 a0001c0001t0007g0076 a0001c0001t0001g0075 a0001c0001t0007g0076	2	370	0.0054	19	c.69+ others(34): Show c.69+6179_69+6197dupACACTACAGGCGCCCGCCA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding	1/8			chr18	TogoVar
PTPN3_chr9_109370700_109503307	109497986	C C	CGGCGCCC others(12): Show CGGCGCCCCGCCCGCGCCCT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03225.hp1 HG03471.hp2 others(1): Show HG02723.hp2 HG03225.hp1 HG03471.hp2 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0043 a0003c0006t0003 a0003c0006t0004 others(1): Show a0001c0001t0043 a0003c0006t0003 a0003c0006t0004 a0003c0006t0006	a0001c0001t0043g0002 a0003c0006t0003g0005 a0003c0006t0004g0004 others(1): Show a0001c0001t0043g0002 a0003c0006t0003g0005 a0003c0006t0004g0004 a0003c0006t0006g0003	4	290	0.0138	19	c.-18 others(34): Show c.-18+214_-18+232dupAGGGCGCGGGCGGGGCGCC	PTPN3	ENSG00000070159.14	transcript	ENST00000374541.4	protein_coding	1/25			chr9	TogoVar
PTPN4_chr2_119754922_119989899	119973655	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp2 HG03486.hp2 HG02818.hp1 HG03209.hp2 HG03486.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0007 a0001c0001 a0006c0007	a0001c0001t0002 a0001c0001t0021 a0006c0007t0002 a0001c0001t0002 a0001c0001t0021 a0006c0007t0002	a0001c0001t0002g0160 a0001c0001t0021g0218 a0006c0007t0002g0161 a0001c0001t0002g0160 a0001c0001t0021g0218 a0006c0007t0002g0161	3	252	0.0119	19	c.269 others(38): Show c.2695-3320_2695-3302dupTTTTTTTTTTTTTTTTTTT	PTPN4	ENSG00000088179.9	transcript	ENST00000263708.7	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
PTPN9_chr15_75458251_75584315	75537753	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02647.hp1 HG03041.hp2 others(3): Show HG00733.hp2 HG02647.hp1 HG03041.hp2 NA19001.hp1 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0023 a0001c0001t0042	a0001c0001t0001g0054 a0001c0001t0003g0006 a0001c0001t0003g0014 others(3): Show a0001c0001t0001g0054 a0001c0001t0003g0006 a0001c0001t0003g0014 a0001c0001t0003g0031 a0001c0001t0023g0028 a0001c0001t0042g0322	6	326	0.0184	19	c.64- others(36): Show c.64-10511_64-10493dupTTTTTTTTTTTTTTTTTTT	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	8933340	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0016 a0001c0012t0016	a0001c0012t0016g0028 a0001c0012t0016g0028	1	34	0.0294	19	c.-10 others(40): Show c.-104+85338_-104+85356dupAAAAAAAAAAAAAAAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	11/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9208020	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0032 a0001c0001t0024g0032	1	34	0.0294	19	c.-20 others(40): Show c.-202-24658_-202-24657insAAAAAAAAAAAAAAAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	9/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9516233	T T	TCTAAATC others(12): Show TCTAAATCAATGCATACTCA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03139.hp1 NA19030.hp2 others(1): Show HG00642.hp2 HG03139.hp1 NA19030.hp2 NA19240.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0003 a0001c0004 a0004c0016 others(1): Show a0001c0003 a0001c0004 a0004c0016 a0005c0015	a0001c0003t0007 a0001c0004t0018 a0004c0016t0020 others(1): Show a0001c0003t0007 a0001c0004t0018 a0004c0016t0020 a0005c0015t0010	a0001c0003t0007g0029 a0001c0004t0018g0015 a0004c0016t0020g0011 others(1): Show a0001c0003t0007g0029 a0001c0004t0018g0015 a0004c0016t0020g0011 a0005c0015t0010g0026	4	34	0.1177	19	c.-23 others(40): Show c.-237+58498_-237+58499insTGAGTATGCATTGATTTAG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	8/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9779078	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0012 a0001c0013t0012	a0001c0013t0012g0014 a0001c0013t0012g0014	1	34	0.0294	19	c.-36 others(40): Show c.-367-12246_-367-12228dupTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	9900641	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA19030.hp2 HG02055.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0010 a0001c0004 a0001c0010	a0001c0004t0018 a0001c0010t0017 a0001c0004t0018 a0001c0010t0017	a0001c0004t0018g0015 a0001c0010t0017g0016 a0001c0004t0018g0015 a0001c0010t0017g0016	2	34	0.0588	19	c.-36 others(40): Show c.-368+37865_-368+37866insAAAAAAACAAAAAAAAAAA	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	5/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10049436	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0001 a0001c0004t0003g0001	1	34	0.0294	19	c.-54 others(40): Show c.-544-15647_-544-15646insCTTTCTTTCTTTCTTTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10065192	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0021 a0001c0011t0005g0021	1	34	0.0294	19	c.-54 others(40): Show c.-544-31403_-544-31402insCTTTCTTTCTTTCTTTCTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10182259	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0030 a0001c0002t0011g0030	1	34	0.0294	19	c.-54 others(42): Show c.-544-148488_-544-148470dupTTTTTTTTTTTTTTTTTTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar
PTPRD_chr9_8309246_10618002	10277184	C C	CAACATAA others(12): Show CAACATAAACATAAAACATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0027 a0001c0003t0004g0027	1	34	0.0294	19	c.-54 others(40): Show c.-545+63760_-545+63778dupTATGTTTTATGTTTATGTT	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	3/45			chr9	TogoVar

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