JoGo: Joint Open Genome and Omics Platform

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
PRKN_chr6_161342417_162732766	161874212	A A	AATATAAT others(23): Show AATATAATATATATTATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0001	1	32	0.0313	30	c.735 others(49): Show c.735-88334_735-88305dupATTATATATTATATATAATATATATT ATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161874466	T T	TATTATAT others(23): Show TATTATATATAAAATATATATTATATGTAAA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	32	0.0313	30	c.735 others(49): Show c.735-88559_735-88558insTTTACATATAATATATATTTTATATA TAAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161897966	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0019 a0002c0002t0004g0019	1	32	0.0313	30	c.734 others(49): Show c.734+75335_734+75336insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161906659	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0019 a0002c0002t0004g0019	1	32	0.0313	30	c.734 others(49): Show c.734+66642_734+66643insATATATATATATATATATATATATAT ATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162210107	A A	AAAAATAA others(23): Show AAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0006 a0001c0004t0001g0006	1	32	0.0313	30	c.413 others(47): Show c.413-8856_413-8855insATTTTATTTTATTTTATTTTATTTTATT TT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	162390396	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	32	0.0313	30	c.171 others(49): Show c.171+52913_171+52914insGTGTATATATATATATATATATATAT ATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	2/11			chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02145.hp1 HG03654.hp2 others(4): Show HG01255.hp2 HG02145.hp1 HG03654.hp2 HG03942.hp2 NA18951.hp1 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0049 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0049 a0001c0001t0001g0133 a0001c0001t0001g0148 a0001c0001t0001g0196 a0001c0001t0001g0254	7	382	0.0183	30	c.60 others(41): Show c.6006_*6007insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4452		chr7	TogoVar
PRKX_chrX_3599340_3718649	3653799	A A	ATATATAT others(23): Show ATATATATTATATACTATGTGATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03654.hp1 HG03139.hp1 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0040 a0002c0003t0012 a0001c0001t0040 a0002c0003t0012	a0001c0001t0040g0048 a0002c0003t0012g0191 a0001c0001t0040g0048 a0002c0003t0012g0191	2	227	0.0088	30	c.599 others(47): Show c.599+1320_599+1349dupATATATATATCACATAGTATATAATATA TA	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	3/8			chrX	TogoVar
PRLR_chr5_35050702_35235487	35074504	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02055.hp1 HG02486.hp2 others(2): Show HG01346.hp2 HG02055.hp1 HG02486.hp2 HG03041.hp2 NA18968.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0016 a0001c0001t0018 a0002c0002t0003 others(1): Show a0001c0001t0016 a0001c0001t0018 a0002c0002t0003 a0002c0002t0011	a0001c0001t0016g0176 a0001c0001t0018g0025 a0002c0002t0003g0143 others(2): Show a0001c0001t0016g0176 a0001c0001t0018g0025 a0002c0002t0003g0143 a0002c0002t0011g0015 a0002c0002t0011g0117	5	214	0.0234	30	c.374 others(47): Show c.374-1761_374-1760insATATATATATATATATATATATATATAT AT	PRLR	ENSG00000113494.17	transcript	ENST00000618457.5	protein_coding	5/9			chr5	TogoVar
PRMT3_chr11_20382716_20514338	20504707	T T	TGTGAGAG others(23): Show TGTGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	380	0.0026	30	c.148 others(49): Show c.1487-3596_1487-3595insTGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	PRMT3	ENSG00000185238.13	transcript	ENST00000331079.11	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19010.hp2 HG03486.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0002 a0001c0005t0018 a0001c0003t0002 a0001c0005t0018	a0001c0003t0002g0037 a0001c0005t0018g0033 a0001c0003t0002g0037 a0001c0005t0018g0033	2	284	0.0070	30	c.928 others(45): Show c.928-718_928-717insACACACACACACACACACACACACACACAC	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT7_chr16_68306019_68363584	68344933	T T	TACACACA others(23): Show TACACACACACACACACATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0145 a0001c0001t0004g0145	1	284	0.0035	30	c.928 others(45): Show c.928-725_928-724insTACACACACACACACACACACACACACACA	PRMT7	ENSG00000132600.18	transcript	ENST00000441236.3	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRMT8_chr12_3486203_3598973	3491006	G G	GCCTGGCC others(23): Show GCCTGGCCTCCACGTAAGTTGTGTGCAGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	364	0.0028	30	c.-62 others(39): Show c.-620_-619insCCTGGCCTCCACGTAAGTTGTGTGCAGCGC	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding		196		chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496199	G G	GATATATA others(23): Show GATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA20129.hp2 HG00423.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0077 a0001c0001t0001g0091	2	364	0.0055	30	c.75+ others(45): Show c.75+4515_75+4516insATATATATATATATATATATATATATATAT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	364	0.0028	30	c.75+ others(45): Show c.75+4515_75+4516insATATATATATATATATATATATATATATTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	364	0.0028	30	c.75+ others(45): Show c.75+4515_75+4516insATATATATATATATATATTTTTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PROP1_chr5_177987235_178001242	177988885	A A	ATATATAC others(23): Show ATATATACATCTGTATATATATACACATCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0003 a0002c0003t0003g0003	1	436	0.0023	30	c.38 others(41): Show c.3823_*3824insCAGATGTGTATATATATACAGATGTATATA	PROP1	ENSG00000175325.2	transcript	ENST00000308304.2	protein_coding		3349		chr5	TogoVar
PROS1_chr3_93868051_93978896	93927923	A A	ATGTGTAT others(23): Show ATGTGTATATATATATGTATATATATATACT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18978.hp1 HG02280.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0279 a0001c0001t0001g0140 a0001c0001t0001g0279	2	314	0.0064	30	c.77- others(43): Show c.77-546_77-517dupAGTATATATATATACATATATATATACACA	PROS1	ENSG00000184500.16	transcript	ENST00000394236.9	protein_coding	1/14			chr3	TogoVar
PROSER2_chr10_11818356_11877277	11842931	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03654.hp1 HG02148.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0039 a0001c0010t0001g0060 a0001c0001t0001g0039 a0001c0010t0001g0060	2	348	0.0058	30	c.-81 others(47): Show c.-81-9039_-81-9038insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRPF31_chr19_54110754_54136713	54133878	C C	CCCCTCTC others(23): Show CCCCTCTCTCCACCTCCCCTCACTCCACCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	227	0.0044	30	c.24 others(41): Show c.2446_*2447insCCCTCTCTCCACCTCCCCTCACTCCACCTT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2166		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133893	C C	CCCTCACT others(23): Show CCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	227	0.0044	30	c.24 others(41): Show c.2461_*2462insCCTCACTCCTCCCTCTCTCCTCCCTCCCCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2181		chr19	TogoVar
PRPF31_chr19_54110754_54136713	54133903	C C	CACCTTCC others(23): Show CACCTTCCCTCTCTCAACCTCCCCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0089 a0001c0009t0001g0089	1	227	0.0044	30	c.24 others(41): Show c.2471_*2472insACCTTCCCTCTCTCAACCTCCCCTCCCTCT	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2191		chr19	TogoVar
PRPF38B_chr1_108687310_108707928	108689608	T T	TAACATTA others(23): Show TAACATTATATATATATATATATATAATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	30	c.-29 others(41): Show c.-2984_-2983insAACATTATATATATATATATATATAATGTG	PRPF38B	ENSG00000134186.12	transcript	ENST00000370025.9	protein_coding		2701		chr1	TogoVar
PRPH2_chr6_42691598_42727597	42705597	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01952.hp2 HG01928.hp1 HG01952.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0005 a0001c0002 a0003c0005	a0001c0002t0002 a0003c0005t0003 a0001c0002t0002 a0003c0005t0003	a0001c0002t0002g0230 a0003c0005t0003g0310 a0001c0002t0002g0230 a0003c0005t0003g0310	2	392	0.0051	30	c.582 others(45): Show c.582-987_582-986insATATATATATATATATATATATATATATAT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19085.hp1 NA18968.hp2 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0342 a0001c0002t0001g0292 a0001c0002t0001g0342	2	392	0.0051	30	c.582 others(45): Show c.582-989_582-988insATATATATATATATATATATATATATTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAATATA others(23): Show AAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	392	0.0026	30	c.582 others(45): Show c.582-989_582-988insATATATATATATATATATATATATATATTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH_chr12_49290147_49303686	49299542	T T	TAATAATA others(23): Show TAATAATAATAAGAAGAAGAAGAAGAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0007 a0002c0005t0001g0007	1	382	0.0026	30	c.11 others(41): Show c.1189_*1190insAATAATAATAAGAAGAAGAAGAAGAAGAAG	PRPH	ENSG00000135406.15	transcript	ENST00000257860.9	protein_coding		857		chr12	TogoVar
PRPS1L1_chr7_18021770_18032846	18030651	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00673.hp2 NA18944.hp2 others(1): Show HG00558.hp1 HG00673.hp2 NA18944.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	4	462	0.0087	30	c.-28 others(41): Show c.-2870_-2869insGTATATATATATATATATATATATATATAT	PRPS1L1	ENSG00000229937.9	transcript	ENST00000506618.5	protein_coding		2806	WARNING_TRANSCRIPT_NO_START_CODON	chr7	TogoVar
PRPS1_chrX_107623510_107656026	107623571	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03195.hp1 NA19043.hp1 others(1): Show HG01891.hp2 HG03195.hp1 NA19043.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0059 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0059 a0001c0001t0005g0143	4	245	0.0163	30	c.-50 others(41): Show c.-5058_-5057insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	PRPS1	ENSG00000147224.13	transcript	ENST00000372435.10	protein_coding		4938		chrX	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0001 a0002c0002t0008g0001	1	316	0.0032	30	c.79 others(41): Show c.7922_*7923insATATATATATATATATATATATATTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR23A_chr3_138998962_139011268	139010701	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	384	0.0026	30	c.-44 others(41): Show c.-4434_-4433insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4434		chr3	TogoVar
PRR23A_chr3_138998962_139011268	139010719	T T	TTTTTTTT others(23): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	384	0.0026	30	c.-44 others(41): Show c.-4452_-4451insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4452		chr3	TogoVar
PRR27_chr4_70149237_70171609	70160443	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	444	0.0023	30	c.649 others(47): Show c.649-1142_649-1141insCTCTCTCTCTCTCTCTGTGTGTGTGTGT GT	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161156	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0233 a0001c0001t0004g0233	1	444	0.0023	30	c.649 others(45): Show c.649-406_649-405insTATATATATATATATATATATATATATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR27_chr4_70149237_70171609	70161175	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0260 a0001c0001t0080g0260	1	444	0.0023	30	c.649 others(45): Show c.649-406_649-405insTATATATATATATATATATATATACATATA	PRR27	ENSG00000187533.14	transcript	ENST00000344526.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRR5L_chr11_36291288_36470204	36350908	A A	ATATATAT others(23): Show ATATATATATATTTATATATATTTATATATT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	272	0.0037	30	c.-12 others(51): Show c.-125-50077_-125-50048dupTTATATATATTTATATATTTATAT ATATAT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36350946	A A	ATTTATAT others(23): Show ATTTATATATATTTATATATTTATATATATT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0219 a0002c0004t0006g0219	1	272	0.0037	30	c.-12 others(51): Show c.-125-50050_-125-50049insTTATATATATTTATATATTTATAT ATATTT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36413700	T T	TTTTTATT others(23): Show TTTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03098.hp2 HG02572.hp1 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0003 a0002c0004t0015 a0001c0001t0003 a0002c0004t0015	a0001c0001t0003g0142 a0002c0004t0015g0114 a0001c0001t0003g0142 a0002c0004t0015g0114	2	272	0.0074	30	c.246 others(47): Show c.246-5528_246-5527insTTATTTTATTTTATTTTATTTTATTTTA TT	PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0051 a0001c0001t0044g0051	1	216	0.0046	30	c.-51 others(47): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTTTTT TT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131420495	T T	TTCTTTCT others(23): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0038 a0002c0038	a0002c0038t0012 a0002c0038t0012	a0002c0038t0012g0171 a0002c0038t0012g0171	1	216	0.0046	30	c.-51 others(47): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CT	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	1/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2B_chr9_131389086_131505193	131448543	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0123 a0004c0004t0005g0123	1	216	0.0046	30	c.112 others(47): Show c.1120+766_1120+767insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171569575	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00544.hp2 others(17): Show HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00733.hp1 HG01074.hp2 HG01516.hp1 HG01952.hp2 HG02080.hp1 HG02129.hp2 HG02293.hp2 HG03239.hp1 HG03486.hp1 HG03669.hp2 NA18950.hp1 NA18966.hp1 NA18971.hp2 NA18973.hp2 NA18979.hp2 NA19054.hp2 NA20300.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0003c0002 a0004c0004 a0001c0001 a0003c0002 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0003c0002t0003 others(1): Show a0001c0001t0001 a0001c0001t0006 a0003c0002t0003 a0004c0004t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 others(17): Show a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0269 a0001c0001t0006g0182 a0003c0002t0003g0193 a0003c0002t0003g0204 a0003c0002t0003g0213 a0003c0002t0003g0227 a0003c0002t0003g0230 a0003c0002t0003g0235 a0003c0002t0003g0237 a0004c0004t0001g0045	20	336	0.0595	30	c.665 others(49): Show c.6651+1254_6651+1255insATATATATATATATATATATATATAT ATAT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	23/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRG1_chrX_37344364_37462291	37376549	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02818.hp1 HG03453.hp2 HG02717.hp1 HG02818.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0002g0077 a0001c0001t0003g0083 a0001c0001t0004g0208 a0001c0001t0002g0077 a0001c0001t0003g0083 a0001c0001t0004g0208	3	216	0.0139	30	c.-42 others(49): Show c.-42+27155_-42+27156insATATATATATATATATATATATATAT ATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG1_chrX_37344364_37462291	37376551	G G	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01070.hp2 HG01123.hp1 others(12): Show HG00673.hp1 HG01070.hp2 HG01123.hp1 HG02040.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18977.hp1 NA18984.hp1 NA18989.hp1 NA18995.hp1 NA19055.hp1 NA19060.hp1 NA19086.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0119 others(12): Show a0001c0001t0001g0092 a0001c0001t0001g0102 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0169 a0001c0001t0001g0188	15	216	0.0694	30	c.-42 others(49): Show c.-42+27177_-42+27178insATATATATATATATATATATATATAT ATAT	PRRG1	ENSG00000130962.18	transcript	ENST00000378628.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chrX	TogoVar
PRRG4_chr11_32824927_32863120	32825348	G G	GCTGGAGT others(23): Show GCTGGAGTGCAATGGCACCATCTCGGCTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	402	0.0025	30	c.-48 others(41): Show c.-4848_-4847insCTGGAGTGCAATGGCACCATCTCGGCTCAT	PRRG4	ENSG00000135378.4	transcript	ENST00000257836.4	protein_coding		4578		chr11	TogoVar
PRRT1B_chr9_131540523_131564815	131541661	T T	TTAGTTTT others(23): Show TTAGTTTTTTTATTTCTTCTGCCTGAATGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0121 a0001c0001t0031g0121	1	458	0.0022	30	c.-39 others(41): Show c.-3955_-3954insTAGTTTTTTTATTTCTTCTGCCTGAATGAA	PRRT1B	ENSG00000283526.2	transcript	ENST00000636672.2	protein_coding		3861		chr9	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CCTCTCTC others(23): Show CCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0013 a0001c0001t0006 a0001c0001t0013	a0001c0001t0006g0346 a0001c0001t0013g0006 a0001c0001t0006g0346 a0001c0001t0013g0006	2	356	0.0056	30	c.-13 others(39): Show c.-131_-130insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0010 a0001c0001t0005g0010	1	356	0.0028	30	c.241 others(47): Show c.241+4995_241+4996insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS41_chr16_2793470_2810304	2795141	T T	TATACATA others(23): Show TATACATATATACATATATATACATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02976.hp1 HG03486.hp2 others(1): Show HG02559.hp1 HG02976.hp1 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0010t0001g0015 a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0010t0001g0015	4	426	0.0094	30	c.-33 others(41): Show c.-3344_-3343insATACATATATACATATATATACATATATAC	PRSS41	ENSG00000215148.11	transcript	ENST00000399677.5	protein_coding		3328		chr16	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02809.hp2 HG00741.hp2 HG02809.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0019 a0001c0001 a0011c0019	a0001c0001t0002 a0011c0019t0051 a0001c0001t0002 a0011c0019t0051	a0001c0001t0002g0240 a0011c0019t0051g0003 a0001c0001t0002g0240 a0011c0019t0051g0003	2	284	0.0070	30	c.204 others(49): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar

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