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
PCSK7_chr11_117199337_117237073	117232365	G G	GGAGAAGA others(31): Show GGAGAAGAGCAACGAGTGGCTTTTAAAGGTCGGAACGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0230	1	460	0.0022	38	c.-47 others(47): Show c.-472_-471insTTCGTTCCGACCTTTAAAAGCCACTCGTTGCTCTTC TC	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding		293		chr11	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG04115.hp1 HG02647.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0055 a0001c0002t0003 a0001c0001t0055 a0001c0002t0003	a0001c0001t0055g0019 a0001c0002t0003g0180 a0001c0001t0055g0019 a0001c0002t0003g0180	2	260	0.0077	38	c.117 others(55): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATTTTTTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637491	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0074 a0001c0001t0017g0074	1	260	0.0039	38	c.117 others(55): Show c.117+9497_117+9498insATATATATATATATATATATATATATAT ATATATTTTT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0105 a0001c0001t0027g0105	1	260	0.0039	38	c.117 others(55): Show c.117+9479_117+9480insTTTTTTATATATATATATATATATATAT ATATATATAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PCYT1B_chrX_24553087_24652347	24637509	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0118 a0001c0001t0011g0118	1	260	0.0039	38	c.117 others(55): Show c.117+9479_117+9480insTTTTATATATATATATATATATATATAT ATATATATAT	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	1/7			chrX	TogoVar
PDCD6_chr5_266646_319974	318238	C C	CCACCCTG others(31): Show CCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01346.hp1 HG02698.hp2 others(1): Show HG01192.hp2 HG01346.hp1 HG02698.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0080 a0001c0002t0001g0043 a0001c0002t0001g0057 others(1): Show a0001c0001t0002g0080 a0001c0002t0001g0043 a0001c0002t0001g0057 a0001c0002t0001g0059	4	360	0.0111	38	c.37 others(49): Show c.3723_*3724insCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3265		chr5	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATGCATGCAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02970.hp1 HG02647.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0068 a0001c0001t0003g0069	2	404	0.0050	38	c.-25 others(55): Show c.-25+5064_-25+5065insATGCATGCATATATATATATATATATAT ATTTTTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAAAA others(31): Show AAAAAAAATATATATATATATATATATATATGCATGCAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03098.hp1 HG02559.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	2	404	0.0050	38	c.-25 others(55): Show c.-25+5064_-25+5065insATGCATGCATATATATATATATATATAT ATATTTTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDC_chr1_186438566_186466114	186455994	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATGCATGCAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0065 a0001c0001t0003g0065	1	404	0.0025	38	c.-25 others(55): Show c.-25+5064_-25+5065insATGCATGCATATATATATATATATATAT ATATATTTTT	PDC	ENSG00000116703.14	transcript	ENST00000391997.3	protein_coding	1/3			chr1	TogoVar
PDE1A_chr2_182135041_182432036	182264878	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03041.hp1 NA18940.hp2 others(5): Show HG01433.hp2 HG03041.hp1 NA18940.hp2 NA18953.hp2 NA18970.hp2 NA19007.hp1 NA19063.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0019 others(1): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0019 a0001c0001t0038	a0001c0001t0004g0140 a0001c0001t0004g0201 a0001c0001t0004g0223 others(5): Show a0001c0001t0004g0140 a0001c0001t0004g0201 a0001c0001t0004g0223 a0001c0001t0004g0228 a0001c0001t0009g0130 a0001c0001t0009g0253 a0001c0001t0019g0241 a0001c0001t0038g0030	8	264	0.0303	38	c.54- others(51): Show c.54-465_54-464insATATATATATATATATATATATATATATATAT ATATAT	PDE1A	ENSG00000115252.19	transcript	ENST00000409365.6	protein_coding	1/14			chr2	TogoVar
PDE3A_chr12_20363537_20693583	20669110	T T	TGAAATGA others(31): Show TGAAATGAATGAAATGAAGCGAGAAGGGAAGTGTAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01943.hp1 HG00323.hp1 HG01943.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0003 a0001c0001t0002 a0002c0002t0003	a0001c0001t0002g0142 a0002c0002t0003g0086 a0001c0001t0002g0142 a0002c0002t0003g0086	2	198	0.0101	38	c.318 others(59): Show c.3185-10919_3185-10882dupGAAATGAATGAAATGAAGCGAGAA GGGAAGTGTAGAGA	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDE3B_chr11_14638804_14877044	14749899	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02056.hp1 HG02257.hp1 others(8): Show HG00621.hp2 HG02056.hp1 HG02257.hp1 HG02717.hp1 HG02723.hp2 HG02965.hp1 HG02965.hp2 HG03209.hp2 NA18953.hp1 NA18982.hp1 NA21309.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0012 a0001c0001 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0008c0012t0002	a0001c0001t0001g0043 a0001c0001t0001g0137 a0001c0001t0001g0259 others(8): Show a0001c0001t0001g0043 a0001c0001t0001g0137 a0001c0001t0001g0259 a0001c0001t0001g0283 a0001c0001t0001g0322 a0001c0001t0002g0029 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0050 a0001c0001t0006g0044 a0008c0012t0002g0295	11	332	0.0331	38	c.979 others(57): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATATAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE3B_chr11_14638804_14877044	14749910	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	332	0.0030	38	c.979 others(57): Show c.979-22024_979-22023insATATATATATATATATATATATATAT ATATATATGTAT	PDE3B	ENSG00000152270.9	transcript	ENST00000282096.9	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATAGATA others(31): Show GATAGATAGATATAGATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 NA18522.hp1 HG03139.hp1 NA18522.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0007 a0004c0007t0007	a0004c0007t0007g0038 a0004c0007t0007g0040 a0004c0007t0007g0038 a0004c0007t0007g0040	2	336	0.0060	38	c.-34 others(49): Show c.-3417_-3416insATATATATATATATATATATATATCTATATCTAT CTAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE5A_chr4_119489403_119633804	119632087	G G	GATATATA others(31): Show GATATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02074.hp2 NA18975.hp1 others(1): Show HG00673.hp1 HG02074.hp2 NA18975.hp1 NA18993.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0002c0003t0003 a0001c0001t0001 a0001c0001t0006 a0002c0003t0003	a0001c0001t0001g0295 a0001c0001t0006g0310 a0001c0001t0006g0312 others(1): Show a0001c0001t0001g0295 a0001c0001t0006g0310 a0001c0001t0006g0312 a0002c0003t0003g0292	4	336	0.0119	38	c.-34 others(49): Show c.-3417_-3416insATATATATATATATATATATATATATATATATAT ATAT	PDE5A	ENSG00000138735.16	transcript	ENST00000354960.8	protein_coding		3284		chr4	TogoVar
PDE6A_chr5_149852953_149949793	149900375	G G	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0092 a0001c0001t0012g0092	1	328	0.0031	38	c.111 others(55): Show c.1114-852_1114-851insTATATATATATATATATATATATATATA TATATATATA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	8/21			chr5	TogoVar
PDE6B_chr4_620573_675782	669486	T T	TTCCCACT others(31): Show TTCCCACTACTCCATGCTGCTGCCACTACCCCATGCTAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0043 a0001c0001t0011g0043	1	308	0.0033	38	c.250 others(55): Show c.2504-556_2504-555insACTACTCCATGCTGCTGCCACTACCCCA TGCTAGTCCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDE7B_chr6_135846701_136200574	135928475	A A	ATTTATTT others(31): Show ATTTATTTATATATATATTTATATATATATATATTTATT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0093 a0001c0001t0015g0093	1	142	0.0070	38	c.22- others(55): Show c.22-18988_22-18987insTTATTTATATATATATTTATATATATAT ATATTTATTT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE9A_chr21_42648621_42780509	42726624	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0280 a0001c0001t0001g0262 a0001c0001t0001g0280	2	324	0.0062	38	c.263 others(55): Show c.263-5145_263-5144insATATATATATATATATATATATTTTTTT TTTTTTTTTT	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDIA5_chr3_123062025_123167104	123117374	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02809.hp1 HG03453.hp1 others(1): Show HG01361.hp1 HG02809.hp1 HG03453.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0008 a0001c0001 a0001c0003 a0002c0008	a0001c0001t0001 a0001c0003t0001 a0002c0008t0001 a0001c0001t0001 a0001c0003t0001 a0002c0008t0001	a0001c0001t0001g0017 a0001c0001t0001g0081 a0001c0003t0001g0084 others(1): Show a0001c0001t0001g0017 a0001c0001t0001g0081 a0001c0003t0001g0084 a0002c0008t0001g0046	4	332	0.0121	38	c.609 others(55): Show c.609+1101_609+1102insATATATATATATATATATATATATATAT ATATATATAT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDLIM1_chr10_95232572_95296003	95256975	A A	AAGAAAGA others(31): Show AAGAAAGAAAGAAAGGAAAGAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03927.hp2 NA18948.hp1 others(2): Show HG01993.hp2 HG03927.hp2 NA18948.hp1 NA18966.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0110 a0001c0002t0002g0288 a0001c0002t0002g0292 others(2): Show a0001c0002t0002g0110 a0001c0002t0002g0288 a0001c0002t0002g0292 a0001c0002t0002g0294 a0001c0002t0002g0307	5	338	0.0148	38	c.533 others(55): Show c.533+6888_533+6889insCTTTTCTTTTCTTTTCTTTCTTTCCTTT CTTTCTTTCT	PDLIM1	ENSG00000107438.9	transcript	ENST00000329399.7	protein_coding	4/6			chr10	TogoVar
PDS5A_chr4_39817863_39982911	39817880	C C	CTATATAT others(31): Show CTATATATATATACATATATATATATATATATATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	356	0.0028	38	c.76 others(49): Show c.7604_*7605insTGTATATATATATATATATATATATGTATATATA TATA	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding		4982		chr4	TogoVar
PDS5A_chr4_39817863_39982911	39909041	A A	AAAATAAC others(31): Show AAAATAACATAACATAAAATAAAATAAAATAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp2 HG01169.hp2 others(9): Show HG01081.hp2 HG01168.hp2 HG01169.hp2 HG02004.hp2 HG03209.hp2 NA18945.hp2 NA18964.hp2 NA18972.hp1 NA19074.hp1 NA19091.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0002 a0001c0002t0003	a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0221 others(9): Show a0001c0002t0002g0216 a0001c0002t0002g0217 a0001c0002t0002g0221 a0001c0002t0002g0222 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0285 a0001c0002t0003g0155 a0001c0002t0003g0156 a0001c0002t0003g0173	12	356	0.0337	38	c.108 others(55): Show c.1088-502_1088-501insATTTTATTTATTTTATTTTATTTTATGT TATGTTATTT	PDS5A	ENSG00000121892.15	transcript	ENST00000303538.13	protein_coding	10/32			chr4	TogoVar
PDS5B_chr13_32581452_32783019	32655359	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0143 a0001c0001t0006g0143	1	334	0.0030	38	c.313 others(55): Show c.313-2864_313-2863insATATATATATATATATATATATATATAT ATATATATAT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0295 a0001c0001t0016g0295	1	334	0.0030	38	c.313 others(55): Show c.313-2864_313-2863insATATATATATATATATATATATTTTTTT TTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDS5B_chr13_32581452_32783019	32655374	A A	ATATATAT others(31): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18995.hp2 HG02056.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	334	0.0060	38	c.313 others(55): Show c.313-2864_313-2863insATATATATATATATATATATTTTTTTTT TTTTTTTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	3/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDSS1_chr10_26692701_26751798	26693079	T T	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00609.hp2 others(26): Show HG00438.hp1 HG00597.hp1 HG00609.hp2 HG00741.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01981.hp2 HG02486.hp1 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18981.hp1 NA18993.hp2 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0038 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0185 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0214 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0002g0080	29	416	0.0697	38	c.-46 others(49): Show c.-4633_-4632insTATATATATATATATATATATATATATATATATA TATA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4621		chr10	TogoVar
PDSS1_chr10_26692701_26751798	26693095	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	416	0.0024	38	c.-46 others(49): Show c.-4617_-4616insTATATATATATATATATATATATATATATATATA TATT	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4605		chr10	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0031 a0003c0004t0005g0031	1	216	0.0046	38	c.-36 others(59): Show c.-361+49917_-361+49918insATATATATATATATATATATATAT TTTTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	31689353	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTCTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01952.hp2 HG01978.hp1 others(1): Show HG00280.hp1 HG01952.hp2 HG01978.hp1 NA18747.hp1	a0001 a0023 a0001 a0023	a0001c0001 a0001c0005 a0023c0058 a0001c0001 a0001c0005 a0023c0058	a0001c0001t0001 a0001c0005t0003 a0023c0058t0001 a0001c0001t0001 a0001c0005t0003 a0023c0058t0001	a0001c0001t0001g0038 a0001c0001t0001g0097 a0001c0005t0003g0014 others(1): Show a0001c0001t0001g0038 a0001c0001t0001g0097 a0001c0005t0003g0014 a0023c0058t0001g0135	4	216	0.0185	38	c.-36 others(59): Show c.-361+49917_-361+49918insATATATATATATATATATATATTT TTTTTTTTTCTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZD2_chr5_31634131_32115932	32025591	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0106 a0002c0002t0002g0106	1	216	0.0046	38	c.140 others(59): Show c.1408-11612_1408-11611insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	6/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41266310	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0114 a0001c0010t0001g0114	1	206	0.0049	38	c.843 others(57): Show c.843+72147_843+72148insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEAK1_chr15_77103158_77425104	77226046	T T	TATATATA others(31): Show TATATATAATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0208 a0001c0001t0015g0208	1	326	0.0031	38	c.-11 others(59): Show c.-115+26320_-115+26321insTATATATATATATATATATATATA TATATATTATATAT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	6/9			chr15	TogoVar
PEAR1_chr1_156888718_156921429	156911115	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCCTTCCTTTCTTTCTTTTCTTTCTTCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19003.hp1 HG03540.hp2 NA19003.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0017 a0001c0002 a0006c0017	a0001c0002t0004 a0006c0017t0002 a0001c0002t0004 a0006c0017t0002	a0001c0002t0004g0128 a0006c0017t0002g0053 a0001c0002t0004g0128 a0006c0017t0002g0053	2	384	0.0052	38	c.195 others(55): Show c.1951+374_1951+375insTCTTTCTTTCCTTCCTTTCTTTCTTTTC TTTCTTCTTT	PEAR1	ENSG00000187800.14	transcript	ENST00000292357.8	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEPD_chr19_33381950_33526791	33441233	G G	GAAACACG others(31): Show GAAACACGCCCTGGCATTTAACATCTTTCGGGTGAGGCT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	314	0.0032	38	c.671 others(57): Show c.671+21724_671+21761dupAGCCTCACCCGAAAGATGTTAAATGC CAGGGCGTGTTT	PEPD	ENSG00000124299.16	transcript	ENST00000244137.12	protein_coding	9/14			chr19	TogoVar
PER3_chr1_7779291_7850177	7815991	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	410	0.0024	38	c.152 others(57): Show c.1523-3268_1523-3267insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PERP_chr6_138083505_138112419	138086314	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp1 NA19056.hp1 NA18982.hp1 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0022 a0002c0002t0038 a0001c0001t0022 a0002c0002t0038	a0001c0001t0022g0216 a0002c0002t0038g0140 a0001c0001t0022g0216 a0002c0002t0038g0140	2	430	0.0047	38	c.57 others(49): Show c.5727_*5728insATATATATATATATATATATATATATATATATAT ATAT	PERP	ENSG00000112378.12	transcript	ENST00000421351.4	protein_coding		2190		chr6	TogoVar
PEX10_chr1_2398974_2417564	2417002	G G	GGGGAAGT others(31): Show GGGGAAGTGCGAGGACACTTCCCCCACAACTATAGACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	358	0.0028	38	c.-45 others(49): Show c.-4501_-4500insTTGTCTATAGTTGTGGGGGAAGTGTCCTCGCACT TCCC	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		4439		chr1	TogoVar
PEX11B_chr1_145906350_145923717	145909622	A A	ATGTTACA others(31): Show ATGTTACATATTATATGTATATTATATATAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	368	0.0027	38	c.25 others(49): Show c.2538_*2539insATTATATATTATATATAATATACATATAATATGT AACA	PEX11B	ENSG00000131779.11	transcript	ENST00000369306.8	protein_coding		1727		chr1	TogoVar
PEX26_chr22_18072990_18110396	18100937	C C	CCTGCCTA others(31): Show CCTGCCTACACTCACTGGTATCTACCCATACTAAACAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0001 a0001c0001t0080g0001	1	398	0.0025	38	c.12 others(51): Show c.12862_*12863insCTGCCTACACTCACTGGTATCTACCCATACTA AACAAG	PEX26	ENSG00000215193.14	transcript	ENST00000399744.8	protein_coding	5/5	12863		chr22	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	376	0.0027	38	c.-35 others(49): Show c.-3543_-3542insATATATATATATATATATTTTTTTTTTTTTTTTT TTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02622.hp2 HG02630.hp2 HG02572.hp2 HG02622.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0166 a0001c0001t0001g0042 a0001c0001t0001g0166	3	376	0.0080	38	c.-35 others(49): Show c.-3543_-3542insATATATATATATATATATATATTTTTTTTTTTTT TTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGBD5_chr1_230309490_230431332	230316040	A A	ATATGTGT others(31): Show ATATGTGTACACATATATGTATGTGTATACATACATGTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0063 a0002c0003t0063	a0002c0003t0063g0235 a0002c0003t0063g0235	1	288	0.0035	38	c.73 others(49): Show c.7347_*7384dupAACATGTATGTATACACATACATATATGTGTACA CATA	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7384		chr1	TogoVar
PGM1_chr1_63588411_63665245	63590494	G G	GAGCACCC others(31): Show GAGCACCCCCATTCACCATTTATGTAATAGATTTCCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	366	0.0027	38	c.-29 others(49): Show c.-2995_-2994insAGCACCCCCATTCACCATTTATGTAATAGATTTC CCCA	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding		2916		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74383824	A A	AATAAATA others(31): Show AATAAATAAATAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0039 a0003c0003t0039	a0003c0003t0039g0024 a0003c0003t0039g0024	1	380	0.0026	38	c.112 others(55): Show c.112-9243_112-9242insATATATATATATATATATATATATATTT ATTTATTTAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGPEP1_chr19_18335598_18374950	18364142	T T	TGCTTTCT others(31): Show TGCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0142 a0001c0001t0142	a0001c0001t0142g0175 a0001c0001t0142g0175	1	412	0.0024	38	c.55 others(47): Show c.559_*560insGCTTTCTTTCTTGCTTTCTTTCTTTCTTGCTTTCTT TC	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	560		chr19	TogoVar
PHACTR1_chr6_12711767_13292837	13003957	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	108	0.0093	38	c.251 others(57): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATATGTATATAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13003963	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	108	0.0093	38	c.251 others(57): Show c.251-49401_251-49400insATATATATATATATATATATATATAT ATATATATATGT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	108	0.0093	38	c.665 others(57): Show c.665-10035_665-10034insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59618712	A A	AAGAGGTG others(31): Show AAGAGGTGCTGTCTCACCCTGAGCAGGGCCGAGAGCCTG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0020 a0004c0008t0020	a0004c0008t0020g0144 a0004c0008t0020g0144	1	250	0.0040	38	c.118 others(57): Show c.118+13685_118+13722dupCGAGAGCCTGAGAGGTGCTGTCTCAC CCTGAGCAGGGC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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