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
PRKN_chr6_161342417_162732766	161680738	TATATATA others(30): Show TATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0013	a0002c0007t0013g0018 a0002c0007t0013g0018	1	32	0.0313	-37	c.871 others(58): Show c.871+104997_871+105033delTATATATATATATATATATATATA TATATATATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162267300	ACAGTGGA others(30): Show ACAGTGGACTCACACACCACACTGGTTCAGTTCAAAGC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18522.hp1 HG02258.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0014 a0001c0003t0001 a0001c0001t0014 a0001c0003t0001	a0001c0001t0014g0012 a0001c0003t0001g0025 a0001c0001t0014g0012 a0001c0003t0001g0025	2	32	0.0625	-37	c.172 others(54): Show c.172-4572_172-4536delGCTTTGAACTGAACCAGTGTGGTGTGTG AGTCCACTG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162275254	GAAGATAC others(30): Show GAAGATACGCTAAAATTGTAAAATGGTGATCTTTTAAT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03041.hp2 HG03209.hp1 HG01884.hp2 HG03041.hp2 HG03209.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0003c0006t0003 a0001c0001t0002 a0003c0006t0003	a0001c0001t0002g0007 a0001c0001t0002g0024 a0003c0006t0003g0004 a0001c0001t0002g0007 a0001c0001t0002g0024 a0003c0006t0003g0004	3	32	0.0938	-37	c.172 others(56): Show c.172-12526_172-12490delATTAAAAGATCACCATTTTACAATTT TAGCGTATCTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRODH_chr22_18907781_18941293	18940798	CATTGCTT others(30): Show CATTGCTTATGGACATAGACTCATTCCTTATGATTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0032 a0032	a0032c0077 a0032c0077	a0032c0077t0001 a0032c0077t0001	a0032c0077t0001g0250 a0032c0077t0001g0250	1	409	0.0024	-37	c.-45 others(48): Show c.-4548_-4512delCCCAATCATAAGGAATGAGTCTATGTCCATAAGC AAT	PRODH	ENSG00000100033.17	transcript	ENST00000357068.11	protein_coding		4506		chr22	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(30): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0005 a0002c0002t0001g0005	1	456	0.0022	-37	c.16 others(48): Show c.1689_*1725delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding		682		chr1	TogoVar
PROK2_chr3_71766655_71790148	71783324	ATTTTATT others(30): Show ATTTTATTGCCCTGTTGCTTTAGAGACATTTTTAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	438	0.0023	-37	c.96+ others(52): Show c.96+1596_96+1632delATTTTAAAAATGTCTCTAAAGCAACAGGGC AATAAAA	PROK2	ENSG00000163421.9	transcript	ENST00000295619.4	protein_coding	1/3			chr3	TogoVar
PRR12_chr19_49586182_49631439	49621249	GGGCTGGG others(30): Show GGGCTGGGGGTCTGGACTCCTGGGTCTGAGGGAGGAGC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	322	0.0031	-37	c.562 others(54): Show c.5624-202_5624-166delCGGCTGGGGGTCTGGACTCCTGGGTCTG AGGGAGGAG	PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRRT4_chr7_128345325_128366690	128354946	GATTGTGT others(30): Show GATTGTGTCGTTATCATGATCATCAGCTAATGTTCATC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0203 a0001c0003t0001g0203	1	448	0.0022	-37	c.878 others(54): Show c.878-2305_878-2269delGATGAACATTAGCTGATGATCATGATAA CGACACAAT	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding	5/5			chr7	TogoVar
PRSS50_chr3_46707117_46722869	46721225	GTCCTTTG others(30): Show GTCCTTTGCAGGGACATGGTTGCAGCTGGAGGCCATTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	-37	c.-34 others(48): Show c.-3438_-3402delTAATGGCCTCCAGCTGCAACCATGTCCCTGCAAA GGA	PRSS50	ENSG00000283706.2	transcript	ENST00000315170.13	protein_coding		3357		chr3	TogoVar
PSD3_chr8_18522303_19018703	18752528	AATTATAT others(30): Show AATTATATATTATATATATTATATATAATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG03225.hp2 HG02258.hp1 HG02818.hp2 HG03225.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0028 a0006c0019 a0001c0001 a0001c0028 a0006c0019	a0001c0001t0058 a0001c0028t0006 a0006c0019t0068 a0001c0001t0058 a0001c0028t0006 a0006c0019t0068	a0001c0001t0058g0016 a0001c0028t0006g0195 a0006c0019t0068g0109 a0001c0001t0058g0016 a0001c0028t0006g0195 a0006c0019t0068g0109	3	228	0.0132	-37	c.217 others(58): Show c.2172+12884_2172+12920delATATATATAATTATATATAATATA TATAATATATAAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865258	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20129.hp2 HG03225.hp1 NA20129.hp2	a0002 a0002	a0002c0007 a0002c0031 a0002c0007 a0002c0031	a0002c0007t0017 a0002c0031t0023 a0002c0007t0017 a0002c0031t0023	a0002c0007t0017g0105 a0002c0031t0023g0192 a0002c0007t0017g0105 a0002c0031t0023g0192	2	228	0.0088	-37	c.163 others(56): Show c.1634+2379_1634+2415delAAAAAAAAATATATATATATATATAT ATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73184425	TGGCCTGG others(30): Show TGGCCTGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01433.hp1 NA18962.hp1 HG00738.hp1 HG01433.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0063 a0001c0001t0001g0072 a0001c0001t0001g0009 a0001c0001t0001g0063 a0001c0001t0001g0072	3	378	0.0079	-37	c.481 others(54): Show c.481-2423_481-2387delTGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCC	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PSMA7_chr20_62131733_62148394	62148348	CGGTCAGG others(30): Show CGGTCAGGTGAGGGAGGCTCGGCCTCCTTGCTGTCTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 NA19011.hp1 HG02132.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	362	0.0055	-37	c.-50 others(48): Show c.-5082_-5046delTAAGACAGCAAGGAGGCCGAGCCTCCCTCACCTG ACC	PSMA7	ENSG00000101182.15	transcript	ENST00000370873.9	protein_coding		4955		chr20	TogoVar
PSMD4_chr1_151249734_151272479	151269895	GCCTCCCA others(30): Show GCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02451.hp1 HG02451.hp2 others(18): Show HG02258.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 others(12): Show a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0173 a0001c0002t0001g0002	21	420	0.0500	-37	c.25 others(48): Show c.2553_*2589delCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCA CCA	PSMD4	ENSG00000159352.16	transcript	ENST00000368884.8	protein_coding		2417		chr1	TogoVar
PSME4_chr2_53859069_53975993	53940917	AATATATA others(30): Show AATATATATATAATACATATATAAATATATATATACAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG03453.hp1 HG01243.hp1 HG01891.hp2 HG03453.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0002 a0005c0011t0001 a0005c0011t0002	a0005c0011t0001g0362 a0005c0011t0001g0364 a0005c0011t0002g0363 a0005c0011t0001g0362 a0005c0011t0001g0364 a0005c0011t0002g0363	3	384	0.0078	-37	c.501 others(52): Show c.501-954_501-918delATGTATATATATATTTATATATGTATTATA TATATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PSPC1_chr13_19697500_19787945	19779003	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCTGCCCCATCTGGGATGTGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	258	0.0039	-37	c.372 others(54): Show c.372+3346_372+3382delTCACATCCCAGATGGGGCAGCGGGGCAG AGGCGCTCC	PSPC1	ENSG00000121390.19	transcript	ENST00000338910.9	protein_coding	1/8			chr13	TogoVar
PTBP2_chr1_96716784_96820049	96762266	TGGCCGGG others(30): Show TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG02451.hp2 others(3): Show HG01884.hp1 HG02258.hp1 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 others(3): Show a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360	6	364	0.0165	-37	c.116 others(54): Show c.116-7423_116-7387delGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGG	PTBP2	ENSG00000117569.20	transcript	ENST00000674951.1	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTCHD1_chrX_23329849_23409374	23342282	ATATATAT others(30): Show ATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02523.hp2 HG03710.hp1 others(10): Show HG02129.hp1 HG02523.hp2 HG03710.hp1 NA18942.hp2 NA18956.hp1 NA18963.hp2 NA18971.hp1 NA18973.hp1 NA19007.hp1 NA19064.hp2 NA19065.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0001t0047 others(8): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0047 a0001c0001t0060 a0001c0001t0076 a0001c0001t0081 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0037 a0001c0002t0138	a0001c0001t0002g0241 a0001c0001t0012g0004 a0001c0001t0047g0208 others(9): Show a0001c0001t0002g0241 a0001c0001t0012g0004 a0001c0001t0047g0208 a0001c0001t0060g0238 a0001c0001t0076g0206 a0001c0001t0081g0240 a0001c0002t0001g0236 a0001c0002t0003g0237 a0001c0002t0004g0205 a0001c0002t0004g0207 a0001c0002t0037g0011 a0001c0002t0138g0239	13	297	0.0438	-37	c.351 others(54): Show c.351+7058_351+7094delATATATATATATATATATATATATATAT TTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342284	ATATATAT others(30): Show ATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01081.hp2 others(18): Show HG00639.hp1 HG00642.hp1 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01978.hp1 HG02027.hp1 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02683.hp1 HG02738.hp1 HG03669.hp1 HG03704.hp2 HG03831.hp2 HG03942.hp1 NA18987.hp1 NA18990.hp1 NA19060.hp1 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0043 others(12): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0043 a0001c0001t0063 a0001c0001t0071 a0001c0001t0145 a0001c0002t0001 a0001c0002t0006 a0001c0002t0008 a0001c0002t0027 a0001c0002t0038 a0001c0002t0046 a0001c0002t0054 a0001c0002t0124 a0001c0004t0004	a0001c0001t0001g0016 a0001c0001t0007g0225 a0001c0001t0007g0260 others(18): Show a0001c0001t0001g0016 a0001c0001t0007g0225 a0001c0001t0007g0260 a0001c0001t0043g0202 a0001c0001t0063g0221 a0001c0001t0071g0018 a0001c0001t0145g0216 a0001c0002t0001g0017 a0001c0002t0001g0113 a0001c0002t0001g0203 a0001c0002t0001g0209 a0001c0002t0001g0220 a0001c0002t0006g0224 a0001c0002t0008g0222 a0001c0002t0027g0190 a0001c0002t0038g0217 a0001c0002t0046g0223 a0001c0002t0054g0194 a0001c0002t0124g0219 a0001c0004t0004g0210 a0001c0004t0004g0218	21	297	0.0707	-37	c.351 others(54): Show c.351+7060_351+7096delATATATATATATATATATATATATATTT TTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342286	ATATATAT others(30): Show ATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0173 a0001c0001t0173	a0001c0001t0173g0211 a0001c0001t0173g0211	1	297	0.0034	-37	c.351 others(54): Show c.351+7062_351+7098delATATATATATATATATATATATATTTTT TTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTEN_chr10_87858625_87976930	87918010	ACAAAGTC others(30): Show ACAAAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTG	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02970.hp2 HG02896.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0298 a0001c0001t0031g0300 a0001c0001t0031g0298 a0001c0001t0031g0300	2	322	0.0062	-37	c.165 others(54): Show c.165-7502_165-7466delCAAAGTCTCACTCTGTTGCCCAGGCTGG AGTGCAGTG	PTEN	ENSG00000171862.15	transcript	ENST00000371953.8	protein_coding	2/8			chr10	TogoVar
PTK2B_chr8_27320552_27464386	27350989	AAATATAT others(30): Show AAATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	328	0.0031	-37	c.-38 others(56): Show c.-38+25310_-38+25346delATATATATATATATATATATATATAT ATATATATATA	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTK2B_chr8_27320552_27464386	27350991	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	328	0.0031	-37	c.-38 others(56): Show c.-38+25311_-38+25347delTATATATATATATATATATATATATA TATATATATAT	PTK2B	ENSG00000120899.18	transcript	ENST00000346049.10	protein_coding	1/30			chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141433363	GGCCTGGC others(30): Show GGCCTGGCTGGTTCTGCTGCTAGCCCTGAATGGACTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	323	0.0031	-37	c.23 others(48): Show c.2320_*2356delGCCTGGCTGGTTCTGCTGCTAGCCCTGAATGGAC TGA	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		910		chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141437022	ATGGGGAG others(30): Show ATGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(80): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01361.hp1 HG01517.hp2 HG01884.hp1 HG01978.hp1 HG02015.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03209.hp1 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18747.hp2 NA18906.hp1 NA18944.hp2 NA18945.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18983.hp2 NA18990.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19011.hp1 NA19043.hp2 NA19064.hp2 NA19074.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0002c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(75): Show a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0048 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0124 a0001c0001t0001g0129 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0171 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0002g0143 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0233 a0001c0001t0004g0293 a0001c0001t0005g0003 a0001c0001t0005g0114 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0262 a0001c0001t0005g0290 a0001c0001t0005g0291 a0001c0001t0006g0041 a0001c0001t0006g0042 a0001c0001t0006g0179 a0001c0001t0006g0210 a0001c0001t0006g0211 a0001c0001t0006g0280 a0001c0001t0006g0281 a0001c0001t0007g0067 a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0010g0157 a0001c0001t0011g0034 a0001c0001t0011g0035 a0001c0001t0012g0214 a0001c0001t0013g0204 a0001c0001t0013g0205 a0001c0001t0022g0153 a0001c0001t0028g0053 a0001c0001t0029g0050 a0001c0001t0030g0140 a0002c0003t0001g0238	83	323	0.2570	-37	c.59 others(48): Show c.5979_*6015delTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCG CCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4569		chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141437059	GTGGGGAG others(30): Show GTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0096	1	323	0.0031	-37	c.60 others(48): Show c.6016_*6052delTGGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCG CCA	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4606		chr8	TogoVar
PTPN12_chr7_77532295_77645069	77641210	ATTTTTTT others(30): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG02055.hp1 HG03579.hp2 HG01099.hp1 HG02055.hp1 HG03579.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0004 a0002c0002t0001g0082 a0003c0003t0001g0178 a0002c0002t0001g0004 a0002c0002t0001g0082 a0003c0003t0001g0178	3	310	0.0097	-37	c.19 others(48): Show c.1931_*1967delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		1142		chr7	TogoVar
PTPN9_chr15_75458251_75584315	75559121	GGGAGCGC others(30): Show GGGAGCGCCTCTGCCCCGCCGCCCCGTCTGGGATGTGA	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0094 a0001c0001t0027g0094	1	326	0.0031	-37	c.63+ others(54): Show c.63+19556_63+19592delTCACATCCCAGACGGGGCGGCGGGGCAG AGGCGCTCC	PTPN9	ENSG00000169410.11	transcript	ENST00000618819.5	protein_coding	1/12			chr15	TogoVar
PTPRD_chr9_8309246_10618002	10449671	GCCTCTGC others(30): Show GCCTCTGCCCGGCCGCCCCGTCTGAGAAGTGAGGAGCC	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0020 a0004c0016t0020	a0004c0016t0020g0011 a0004c0016t0020g0011	1	34	0.0294	-37	c.-59 others(60): Show c.-599-108691_-599-108655delGGCTCCTCACTTCTCAGACGGG GCGGCCGGGCAGAGG	PTPRD	ENSG00000153707.19	transcript	ENST00000381196.9	protein_coding	2/45			chr9	TogoVar
PTPRG_chr3_61556571_62302609	61803465	TTGGACAA others(30): Show TTGGACAACATGGTTCATGTTGTCCATGTTGTCCAACA	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	94	0.0106	-37	c.190 others(56): Show c.190+54495_190+54531delGTTCATGTTGTCCATGTTGTCCAACA TGGACAACATG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRH_chr19_55176247_55214501	55208100	TCCTGGGT others(30): Show TCCTGGGTCTGAGGGAGGAGGGCCTGGGGGCCTGGGGG	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0050 a0001c0042t0001g0050	1	378	0.0027	-37	c.52- others(50): Show c.52-938_52-902delCCCCCAGGCCCCCAGGCCCTCCTCCCTCAGAC CCAGG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208764	GGCCTGAA others(30): Show GGCCTGAAGGAGGAGGGACTGGGGGTCTGGACCCCTGA	G G	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0050 a0001c0042t0001g0050	1	378	0.0027	-37	c.51+ others(50): Show c.51+582_51+618delTCAGGGGTCCAGACCCCCAGTCCCTCCTCCTT CAGGC	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PTPRH_chr19_55176247_55214501	55208935	TCTGGACT others(30): Show TCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01981.hp1 HG02602.hp2 HG01516.hp1 HG01981.hp1 HG02602.hp2	a0001 a0025 a0001 a0025	a0001c0001 a0025c0085 a0001c0001 a0025c0085	a0001c0001t0001 a0025c0085t0003 a0001c0001t0001 a0025c0085t0003	a0001c0001t0001g0039 a0001c0001t0001g0040 a0025c0085t0003g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0025c0085t0003g0038	3	378	0.0079	-37	c.51+ others(50): Show c.51+411_51+447delGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAG TCCAG	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PURB_chr7_44871299_44890530	44871803	CCACCTCC others(30): Show CCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCCCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18954.hp2 NA18963.hp2 others(3): Show NA18944.hp1 NA18954.hp2 NA18963.hp2 NA18982.hp2 NA18990.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	6	412	0.0146	-37	c.12 others(50): Show c.12570_*12606delAGGGGCGCCTCTGCCCGGCCGCCCCGTCTGGG AGGTG	PURB	ENSG00000146676.10	transcript	ENST00000395699.5	protein_coding		4495		chr7	TogoVar
PURB_chr7_44871299_44890530	44871837	CCCTCACC others(30): Show CCCTCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02818.hp2 HG02965.hp1 others(2): Show HG01109.hp2 HG02818.hp2 HG02965.hp1 HG03225.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0011 a0001c0001t0001 a0001c0002t0011	a0001c0001t0001g0000 a0001c0002t0011g0000 a0001c0001t0001g0000 a0001c0002t0011g0000	5	412	0.0121	-37	c.12 others(50): Show c.12536_*12572delAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGG TGAGG	PURB	ENSG00000146676.10	transcript	ENST00000395699.5	protein_coding		4461		chr7	TogoVar
PURB_chr7_44871299_44890530	44872088	AGCCGGGC others(30): Show AGCCGGGCAGAGGCGCTCCTCACTTCCCAGATGGGGCG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA18522.hp1 HG02257.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0000 a0001c0002t0009g0000	2	412	0.0049	-37	c.12 others(50): Show c.12285_*12321delCGCCCCATCTGGGAAGTGAGGAGCGCCTCTGC CCGGC	PURB	ENSG00000146676.10	transcript	ENST00000395699.5	protein_coding		4210		chr7	TogoVar
PVR_chr19_44638910_44671162	44668339	AATATATA others(30): Show AATATATATAATATATTTATATAATATGTTTATATATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(310): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0004 a0002c0002 others(6): Show a0001c0001 a0001c0004 a0002c0002 a0003c0003 a0006c0005 a0007c0010 a0008c0009 a0009c0011 a0010c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(90): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0116 a0001c0001t0121 a0001c0004t0026 a0001c0004t0027 a0001c0004t0050 a0001c0004t0052 a0001c0004t0053 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0019 a0002c0002t0021 a0002c0002t0022 a0002c0002t0061 a0002c0002t0062 a0002c0002t0078 a0003c0003t0007 a0003c0003t0109 a0006c0005t0002 a0006c0005t0005 a0007c0010t0071 a0008c0009t0099 a0009c0011t0002 a0010c0008t0004	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 others(229): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0017 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0160 a0001c0001t0003g0181 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0004g0049 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0001t0005g0006 a0001c0001t0005g0017 a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0051 a0001c0001t0005g0177 a0001c0001t0005g0185 a0001c0001t0005g0191 a0001c0001t0005g0194 a0001c0001t0005g0214 a0001c0001t0006g0208 a0001c0001t0007g0058 a0001c0001t0007g0073 a0001c0001t0007g0118 a0001c0001t0008g0006 a0001c0001t0008g0020 a0001c0001t0008g0209 a0001c0001t0008g0227 a0001c0001t0009g0001 a0001c0001t0009g0005 a0001c0001t0009g0011 a0001c0001t0009g0053 a0001c0001t0009g0203 a0001c0001t0010g0009 a0001c0001t0010g0015 a0001c0001t0010g0080 a0001c0001t0010g0083 a0001c0001t0010g0085 a0001c0001t0010g0091 a0001c0001t0010g0092 a0001c0001t0010g0094 a0001c0001t0011g0025 a0001c0001t0011g0026 a0001c0001t0011g0178 a0001c0001t0011g0187 a0001c0001t0012g0011 a0001c0001t0013g0027 a0001c0001t0013g0159 a0001c0001t0013g0179 a0001c0001t0013g0183 a0001c0001t0014g0017 a0001c0001t0014g0029 a0001c0001t0014g0221 a0001c0001t0014g0222 a0001c0001t0015g0012 a0001c0001t0015g0195 a0001c0001t0015g0196 a0001c0001t0017g0001 a0001c0001t0017g0003 a0001c0001t0017g0006 a0001c0001t0017g0205 a0001c0001t0018g0004 a0001c0001t0018g0046 a0001c0001t0019g0020 a0001c0001t0019g0226 a0001c0001t0020g0012 a0001c0001t0020g0028 a0001c0001t0021g0001 a0001c0001t0022g0005 a0001c0001t0022g0212 a0001c0001t0023g0089 a0001c0001t0023g0115 a0001c0001t0023g0116 a0001c0001t0024g0038 a0001c0001t0024g0114 a0001c0001t0028g0057 a0001c0001t0028g0126 a0001c0001t0030g0045 a0001c0001t0030g0047 a0001c0001t0031g0001 a0001c0001t0031g0029 a0001c0001t0032g0006 a0001c0001t0032g0048 a0001c0001t0033g0028 a0001c0001t0033g0197 a0001c0001t0034g0216 a0001c0001t0036g0043 a0001c0001t0037g0043 a0001c0001t0037g0161 a0001c0001t0038g0035 a0001c0001t0040g0152 a0001c0001t0041g0072 a0001c0001t0041g0075 a0001c0001t0042g0009 a0001c0001t0042g0078 a0001c0001t0043g0015 a0001c0001t0049g0189 a0001c0001t0054g0220 a0001c0001t0055g0027 a0001c0001t0057g0228 a0001c0001t0058g0233 a0001c0001t0059g0229 a0001c0001t0060g0004 a0001c0001t0063g0176 a0001c0001t0064g0025 a0001c0001t0065g0219 a0001c0001t0066g0005 a0001c0001t0067g0003 a0001c0001t0069g0230 a0001c0001t0070g0006 a0001c0001t0072g0166 a0001c0001t0073g0188 a0001c0001t0074g0167 a0001c0001t0075g0012 a0001c0001t0080g0206 a0001c0001t0081g0050 a0001c0001t0082g0001 a0001c0001t0084g0005 a0001c0001t0086g0048 a0001c0001t0087g0003 a0001c0001t0088g0004 a0001c0001t0089g0001 a0001c0001t0093g0224 a0001c0001t0095g0010 a0001c0001t0096g0090 a0001c0001t0097g0010 a0001c0001t0098g0101 a0001c0001t0100g0106 a0001c0001t0116g0015 a0001c0001t0121g0193 a0001c0004t0026g0023 a0001c0004t0026g0172 a0001c0004t0027g0022 a0001c0004t0027g0173 a0001c0004t0050g0022 a0001c0004t0052g0023 a0001c0004t0053g0022 a0002c0002t0003g0042 a0002c0002t0004g0002 a0002c0002t0004g0007 a0002c0002t0004g0019 a0002c0002t0004g0040 a0002c0002t0004g0135 a0002c0002t0004g0138 a0002c0002t0004g0140 a0002c0002t0004g0142 a0002c0002t0004g0145 a0002c0002t0004g0147 a0002c0002t0006g0002 a0002c0002t0006g0019 a0002c0002t0006g0136 a0002c0002t0006g0141 a0002c0002t0008g0054 a0002c0002t0008g0134 a0002c0002t0008g0143 a0002c0002t0008g0146 a0002c0002t0008g0156 a0002c0002t0019g0133 a0002c0002t0019g0137 a0002c0002t0021g0008 a0002c0002t0022g0002 a0002c0002t0061g0157 a0002c0002t0062g0007 a0002c0002t0078g0002 a0003c0003t0007g0033 a0003c0003t0109g0100 a0006c0005t0002g0003 a0006c0005t0005g0003 a0007c0010t0071g0024 a0008c0009t0099g0087 a0009c0011t0002g0234 a0010c0008t0004g0042	313	412	0.7597	-37	c.65 others(48): Show c.6529_*6565delATATATATAATATATTTATATAATATGTTTATAT ATT	PVR	ENSG00000073008.16	transcript	ENST00000425690.8	protein_coding		2178		chr19	TogoVar
PXDNL_chr8_51314577_51814445	51599622	TTATCTTA others(30): Show TTATCTTATATAAATGATATCATTTATATAATAAATTA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02451.hp1 others(6): Show HG01884.hp1 HG02109.hp1 HG02451.hp1 HG02486.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03516.hp2 NA19043.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0008 a0015 a0017	a0002c0002 a0004c0041 a0005c0015 others(4): Show a0002c0002 a0004c0041 a0005c0015 a0005c0027 a0008c0008 a0015c0025 a0017c0016	a0002c0002t0001 a0004c0041t0001 a0005c0015t0001 others(4): Show a0002c0002t0001 a0004c0041t0001 a0005c0015t0001 a0005c0027t0005 a0008c0008t0003 a0015c0025t0001 a0017c0016t0001	a0002c0002t0001g0067 a0002c0002t0001g0068 a0004c0041t0001g0057 others(6): Show a0002c0002t0001g0067 a0002c0002t0001g0068 a0004c0041t0001g0057 a0005c0015t0001g0030 a0005c0027t0005g0033 a0008c0008t0003g0007 a0015c0025t0001g0027 a0017c0016t0001g0062 a0017c0016t0001g0063	9	122	0.0738	-37	c.237 others(54): Show c.237-6961_237-6925delTAATTTATTATATAAATGATATCATTTA TATAAGATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51599759	TATAATAA others(30): Show TATAATAAATTATATCTTATATAAATGATATCGTTTAG	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0003 a0009c0012t0003	a0009c0012t0003g0012 a0009c0012t0003g0012	1	122	0.0082	-37	c.237 others(54): Show c.237-7098_237-7062delCTAAACGATATCATTTATATAAGATATA ATTTATTAT	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51599773	TCTTATAT others(30): Show TCTTATATAAATGATATCGTTTAGATAATAAATTATAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02717.hp2 HG02922.hp2 others(5): Show HG01070.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0024 a0026	a0001c0001 a0003c0005 a0009c0012 others(2): Show a0001c0001 a0003c0005 a0009c0012 a0024c0026 a0026c0043	a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0024c0026t0003 a0026c0043t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(5): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 a0003c0005t0003g0003 a0003c0005t0003g0006 a0009c0012t0001g0038 a0024c0026t0003g0002 a0026c0043t0003g0005	8	122	0.0656	-37	c.237 others(54): Show c.237-7112_237-7076delGTATAATTTATTATCTAAACGATATCAT TTATATAAG	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600492	GTTTAGAT others(30): Show GTTTAGATAATAAATTATATCTTATATAAATTATATCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02109.hp1 HG02486.hp1 others(3): Show HG01884.hp1 HG02109.hp1 HG02486.hp1 HG02965.hp2 HG03516.hp2 NA19043.hp2	a0002 a0005 a0008 others(1): Show a0002 a0005 a0008 a0017	a0002c0002 a0005c0015 a0008c0008 others(1): Show a0002c0002 a0005c0015 a0008c0008 a0017c0016	a0002c0002t0001 a0005c0015t0001 a0008c0008t0003 others(1): Show a0002c0002t0001 a0005c0015t0001 a0008c0008t0003 a0017c0016t0001	a0002c0002t0001g0067 a0002c0002t0001g0068 a0005c0015t0001g0030 others(3): Show a0002c0002t0001g0067 a0002c0002t0001g0068 a0005c0015t0001g0030 a0008c0008t0003g0007 a0017c0016t0001g0062 a0017c0016t0001g0063	6	122	0.0492	-37	c.237 others(54): Show c.237-7831_237-7795delTGATATAATTTATATAAGATATAATTTA TTATCTAAA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PXDNL_chr8_51314577_51814445	51600917	ATATAAAT others(30): Show ATATAAATTATATAATTTATATAATAAATTATATCTTC	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02717.hp2 HG02922.hp2 others(5): Show HG01070.hp2 HG02717.hp2 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03486.hp2 NA19030.hp2 NA20129.hp2	a0001 a0003 a0009 others(2): Show a0001 a0003 a0009 a0024 a0026	a0001c0001 a0003c0005 a0009c0012 others(2): Show a0001c0001 a0003c0005 a0009c0012 a0024c0026 a0026c0043	a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 others(4): Show a0001c0001t0002 a0001c0001t0003 a0003c0005t0001 a0003c0005t0003 a0009c0012t0001 a0024c0026t0003 a0026c0043t0003	a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 others(5): Show a0001c0001t0002g0110 a0001c0001t0003g0013 a0003c0005t0001g0041 a0003c0005t0003g0003 a0003c0005t0003g0006 a0009c0012t0001g0038 a0024c0026t0003g0002 a0026c0043t0003g0005	8	122	0.0656	-37	c.237 others(54): Show c.237-8256_237-8220delGAAGATATAATTTATTATATAAATTATA TAATTTATA	PXDNL	ENSG00000147485.13	transcript	ENST00000356297.5	protein_coding	2/22			chr8	TogoVar
PYDC1_chr16_31210962_31222135	31221624	GGGAGAAG others(30): Show GGGAGAAGGGCATTGCTGGGAGAAGAAGGGCATTGCTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	346	0.0029	-37	c.-46 others(48): Show c.-4633_-4597delTAGCAATGCCCTTCTTCTCCCAGCAATGCCCTTC TCC	PYDC1	ENSG00000169900.8	transcript	ENST00000302964.4	protein_coding		4490		chr16	TogoVar
PYGM_chr11_64741398_64764974	64743281	GCTCGGCT others(30): Show GCTCGGCTCTGCGCCCCTCCCGCTTCCCTCCCTCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	350	0.0029	-37	c.33 others(48): Show c.3341_*3377delTGTGGAGGGAGGGAAGCGGGAGGGGCGCAGAGCC GAG	PYGM	ENSG00000068976.14	transcript	ENST00000164139.4	protein_coding		3116		chr11	TogoVar
QRFPR_chr4_121323642_121386018	121368857	ATGAAAAA others(30): Show ATGAAAAAATAGGTAATGAGGTCCCCATACACCACTGC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG02015.hp2 others(24): Show HG00423.hp2 HG00639.hp1 HG02015.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 NA18747.hp1 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18950.hp2 NA18964.hp1 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19007.hp2 NA19064.hp1 NA19075.hp2 NA19087.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0008 a0001c0001 a0003c0004 a0006c0008	a0001c0001t0003 a0003c0004t0006 a0003c0004t0009 others(2): Show a0001c0001t0003 a0003c0004t0006 a0003c0004t0009 a0006c0008t0013 a0006c0008t0015	a0001c0001t0003g0294 a0003c0004t0006g0337 a0003c0004t0006g0338 others(23): Show a0001c0001t0003g0294 a0003c0004t0006g0337 a0003c0004t0006g0338 a0003c0004t0006g0339 a0003c0004t0006g0340 a0003c0004t0006g0341 a0003c0004t0006g0342 a0003c0004t0006g0343 a0003c0004t0006g0344 a0003c0004t0006g0345 a0003c0004t0006g0346 a0003c0004t0006g0347 a0003c0004t0006g0348 a0003c0004t0006g0349 a0003c0004t0006g0350 a0003c0004t0006g0351 a0003c0004t0006g0352 a0003c0004t0006g0353 a0003c0004t0006g0354 a0003c0004t0006g0355 a0003c0004t0006g0356 a0003c0004t0009g0280 a0006c0008t0013g0005 a0006c0008t0013g0031 a0006c0008t0013g0036 a0006c0008t0015g0175	27	384	0.0703	-37	c.340 others(56): Show c.340+11414_340+11450delGCAGTGGTGTATGGGGACCTCATTAC CTATTTTTTCA	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
R3HDM4_chr19_891503_918219	891767	GGGGGCTG others(30): Show GGGGGCTGAGTGTGACGGGGAACACCTGTGGCCGAGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02922.hp1 HG02970.hp1 others(3): Show HG02258.hp1 HG02922.hp1 HG02970.hp1 HG03139.hp2 HG03516.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0160 others(3): Show a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0160 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0298	6	432	0.0139	-37	c.56 others(48): Show c.5633_*5669delGCCTCGGCCACAGGTGTTCCCCGTCACACTCAGC CCC	R3HDM4	ENSG00000198858.10	transcript	ENST00000361574.10	protein_coding		4735		chr19	TogoVar
RAB10_chr2_26029084_26142454	26140451	ACTTTTTT others(30): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0125 a0001c0001t0002g0125	1	212	0.0047	-37	c.54 others(48): Show c.5431_*5467delCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAG	RAB10	ENSG00000084733.11	transcript	ENST00000264710.5	protein_coding		2998		chr2	TogoVar
RAB11FIP4_chr17_31386675_31543211	31445548	ATATATAT others(30): Show ATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	310	0.0032	-37	c.336 others(56): Show c.336+11428_336+11464delATATATATATATATATATATATATAT ATATTTTTTTT	RAB11FIP4	ENSG00000131242.18	transcript	ENST00000621161.5	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB20_chr13_110518066_110566722	110520395	CCCGTGTG others(30): Show CCCGTGTGCTGGGGAGGGAACCCGTGTGCTGGGGAGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	426	0.0024	-37	c.32 others(48): Show c.3233_*3269delATCTCCCCAGCACACGGGTTCCCTCCCCAGCACA CGG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding		2670		chr13	TogoVar
RAB2A_chr8_60511987_60628644	60549129	GGGCAGAG others(30): Show GGGCAGAGACGCTCCTCACTTTCCAGACTGGGCAGCCA	G G	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0003 a0001c0001t0014g0003	1	358	0.0028	-37	c.47- others(52): Show c.47-9715_47-9679delACGCTCCTCACTTTCCAGACTGGGCAGCCA GGCAGAG	RAB2A	ENSG00000104388.15	transcript	ENST00000262646.12	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr8	TogoVar

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Search Results (Total: 1847 hits)