Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PRKD2_chr19_46669316_46722114	46680947	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	378	0.0027	21	c.207 others(38): Show c.2070+702_2070+703insTATATATATATATATATATAT	PRKD2	ENSG00000105287.13	transcript	ENST00000291281.9	protein_coding	15/17			chr19	TogoVar
PRKDC_chr8_47768111_47965136	47948202	G G	GGCGCGAT others(14): Show GGCGCGATCTCGGGTCACTGCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0113 a0001c0011t0001g0113	1	198	0.0051	21	c.722 others(38): Show c.722-4194_722-4174dupTGCAGTGACCCGAGATCGCGC	PRKDC	ENSG00000253729.9	transcript	ENST00000314191.7	protein_coding	7/85			chr8	TogoVar
PRKG1_chr10_51069487_52303350	51205127	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0032 a0001c0001t0014g0032	1	64	0.0156	21	c.478 others(40): Show c.478+51800_478+51801insCTTTTTTTTTTTTTTTTTTTT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG1_chr10_51069487_52303350	51374093	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0058 a0001c0001t0003g0058	1	64	0.0156	21	c.479 others(40): Show c.479-93630_479-93629insTATATATATATATATATATAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	2/17			chr10	TogoVar
PRKG1_chr10_51069487_52303350	52150177	A A	AATTATTA others(14): Show AATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0056 a0001c0007t0004g0056	1	64	0.0156	21	c.100 others(42): Show c.1002-11710_1002-11709insTATTATTATTATTATTATTAT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKG2_chr4_81082375_81220222	81086593	G G	GTAATAAT others(14): Show GTAATAATAATAATAATAATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	250	0.0040	21	c.31 others(32): Show c.3114_*3115insTTATTATTATTATTATTATTA	PRKG2	ENSG00000138669.10	transcript	ENST00000264399.6	protein_coding		781		chr4	TogoVar
PRKN_chr6_161342417_162732766	161350900	T T	TATTTTTA others(14): Show TATTTTTATATATTTATATTTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02647.hp1 HG01361.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0030 a0001c0004t0001g0006 a0001c0001t0001g0030 a0001c0004t0001g0006	2	32	0.0625	21	c.128 others(38): Show c.1286-690_1286-689insTAAATATAAATATATAAAAAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161897984	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0004 a0003c0006t0003g0004	1	32	0.0313	21	c.734 others(40): Show c.734+75317_734+75318insATTTTTTTTTTTTTTTTTTTT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161902552	A A	ATCTATCT others(14): Show ATCTATCTATCTATTTATCTAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG02647.hp1 others(2): Show HG01192.hp2 HG02602.hp1 HG02647.hp1 HG02897.hp2 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0004t0001 a0002c0002t0009	a0001c0001t0001g0017 a0001c0003t0001g0025 a0001c0004t0001g0001 others(2): Show a0001c0001t0001g0017 a0001c0003t0001g0025 a0001c0004t0001g0001 a0001c0004t0001g0006 a0002c0002t0009g0008	5	32	0.1563	21	c.734 others(40): Show c.734+70749_734+70750insATAGATAAATAGATAGATAGA	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161903194	G G	GCTGCACT others(14): Show GCTGCACTGGCTCTAGAGCCAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02647.hp1 others(4): Show HG02258.hp1 HG02258.hp2 HG02647.hp1 HG02897.hp2 HG03041.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0014 a0001c0003t0001 a0001c0004t0001	a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0008g0010 others(4): Show a0001c0001t0002g0011 a0001c0001t0002g0024 a0001c0001t0008g0010 a0001c0001t0014g0012 a0001c0003t0001g0025 a0001c0004t0001g0001 a0001c0004t0001g0006	7	32	0.2188	21	c.734 others(40): Show c.734+70087_734+70107dupTTGGCTCTAGAGCCAGTGCAG	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKRIP1_chr7_102391363_102431666	102431117	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0017 a0001c0001t0015g0017	1	382	0.0026	21	c.60 others(32): Show c.6006_*6007insGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4452		chr7	TogoVar
PRKRIP1_chr7_102391363_102431666	102431142	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0166 a0001c0001t0003g0166	1	382	0.0026	21	c.60 others(32): Show c.6031_*6032insGTGTGTGTGTGTGTGTGTGTG	PRKRIP1	ENSG00000128563.13	transcript	ENST00000397912.3	protein_coding		4477		chr7	TogoVar
PRKX_chrX_3599340_3718649	3613854	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0153 a0001c0001t0020g0153	1	227	0.0044	21	c.952 others(38): Show c.952-1550_952-1530dupTTTTTTTTTTTTTTTTTTTTT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	7/8			chrX	TogoVar
PRMT8_chr12_3486203_3598973	3496214	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	364	0.0028	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATATATT	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(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0250 a0001c0009t0001g0250	1	364	0.0028	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATATTTT	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(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 NA18959.hp1 NA19054.hp2 HG01261.hp1 NA18959.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0001g0251 a0001c0001t0001g0154 a0001c0001t0001g0211 a0001c0001t0001g0251	3	364	0.0082	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATTTTTT	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(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	364	0.0028	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATTTTTTTT	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(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18990.hp2 NA19074.hp1 NA18963.hp1 NA18990.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0002 a0001c0001t0001 a0001c0010t0002	a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0010t0002g0216 a0001c0001t0001g0207 a0001c0001t0001g0217 a0001c0010t0002g0216	3	364	0.0082	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATTTTTTTTTT	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PRMT8_chr12_3486203_3598973	3496215	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp1 HG02074.hp2 others(4): Show HG00639.hp1 HG00673.hp1 HG02074.hp2 HG02148.hp1 NA18612.hp2 NA19011.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0235 a0001c0001t0001g0272 a0001c0001t0001g0273 others(4): Show a0001c0001t0001g0235 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0311 a0001c0001t0001g0315 a0001c0001t0001g0336 a0001c0002t0002g0312	7	364	0.0192	21	c.75+ others(36): Show c.75+4515_75+4516insATATATATATATATATATATA	PRMT8	ENSG00000111218.12	transcript	ENST00000382622.4	protein_coding	1/9			chr12	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(14): Show TTCTTTCTTTCTTTTTTCTTCC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02135.hp1 NA18747.hp1 others(5): Show HG02074.hp2 HG02135.hp1 NA18747.hp1 NA18942.hp1 NA18953.hp2 NA18977.hp1 NA19011.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0194 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0037 a0001c0001t0001g0194 a0001c0001t0001g0205 a0001c0001t0001g0292 a0001c0001t0001g0330 a0001c0001t0001g0371	8	374	0.0214	21	c.145 others(40): Show c.1454+1708_1454+1709insGGAAGAAAAAAGAAAGAAAGA	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27			chr4	TogoVar
PROM1_chr4_15963228_16089023	16004829	T T	TTCTTTCT others(14): Show TTCTTTCTTTTTTCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp2 HG03486.hp1 others(2): Show HG02717.hp1 HG02723.hp2 HG03486.hp1 NA18906.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0011 a0001c0001t0001 a0001c0001t0002 a0001c0003t0011	a0001c0001t0001g0034 a0001c0001t0001g0094 a0001c0001t0001g0355 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0094 a0001c0001t0001g0355 a0001c0001t0002g0347 a0001c0003t0011g0012	5	374	0.0134	21	c.145 others(40): Show c.1454+1708_1454+1709insGGAAGGAAGAAAAAAGAAAGA	PROM1	ENSG00000007062.12	transcript	ENST00000447510.7	protein_coding	13/27			chr4	TogoVar
PROSER2_chr10_11818356_11877277	11840953	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	348	0.0029	21	c.-81 others(40): Show c.-81-11044_-81-11043insTATATATATATATATATATAT	PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3			chr10	TogoVar
PRPF31_chr19_54110754_54136713	54134157	T T	TCTCCACC others(14): Show TCTCCACCTTCCCTCTCCCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	227	0.0044	21	c.27 others(32): Show c.2725_*2726insCTCCACCTTCCCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2445		chr19	TogoVar
PRPF3_chr1_150316533_150358233	150348460	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03139.hp2 HG03239.hp2 HG01255.hp2 HG03139.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0003t0002g0238 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0003t0002g0238	3	362	0.0083	21	c.184 others(38): Show c.1844-678_1844-677insTTTTTTTTTTTTTTTTTTTTT	PRPF3	ENSG00000117360.13	transcript	ENST00000324862.7	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPF6_chr20_63976132_64038100	63976764	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	294	0.0034	21	c.-44 others(32): Show c.-4482_-4481insAAAAAAAAAAAAAAAAAAAAA	PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding		4367		chr20	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03704.hp1 NA18979.hp2 HG02602.hp1 HG03704.hp1 NA18979.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0003 a0001c0002t0001 a0002c0003t0003	a0001c0002t0001g0284 a0001c0002t0001g0346 a0002c0003t0003g0259 a0001c0002t0001g0284 a0001c0002t0001g0346 a0002c0003t0003g0259	3	392	0.0077	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATTTTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18956.hp2 HG00544.hp2 NA18956.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0337 a0001c0002t0001g0271 a0001c0002t0001g0337	2	392	0.0051	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATATTTT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18906.hp2 NA18943.hp2 others(4): Show HG01192.hp2 NA18906.hp2 NA18943.hp2 NA18961.hp2 NA19043.hp1 NA19064.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0002c0004 a0001c0002 a0002c0003 a0002c0004	a0001c0002t0001 a0001c0002t0004 a0002c0003t0003 others(2): Show a0001c0002t0001 a0001c0002t0004 a0002c0003t0003 a0002c0003t0007 a0002c0004t0005	a0001c0002t0001g0296 a0001c0002t0004g0260 a0002c0003t0003g0242 others(4): Show a0001c0002t0001g0296 a0001c0002t0004g0260 a0002c0003t0003g0242 a0002c0003t0003g0251 a0002c0003t0003g0266 a0002c0003t0007g0359 a0002c0004t0005g0125	7	392	0.0179	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATATATT	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705599	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0227 a0002c0003t0005g0227	1	392	0.0026	21	c.582 others(36): Show c.582-989_582-988insATATATATATATATATATATA	PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2			chr6	TogoVar
PRPSAP1_chr17_76304478_76358916	76314228	G G	GTATGTAT others(14): Show GTATGTATGTATGTATGTATGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0029 a0001c0001t0012g0070 a0001c0001t0012g0029 a0001c0001t0012g0070	2	366	0.0055	21	c.782 others(36): Show c.782-338_782-337insACATACATACATACATACATA	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	7/9			chr17	TogoVar
PRPSAP1_chr17_76304478_76358916	76345237	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	366	0.0027	21	c.224 others(36): Show c.224-501_224-500insTTTTTTTTTTTTTTTTTTTTT	PRPSAP1	ENSG00000161542.17	transcript	ENST00000446526.8	protein_coding	2/9			chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18892727	G G	GTGTGTGT others(14): Show GTGTGTGTGTGTGTTATTTATT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02602.hp1 HG01192.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0066 a0001c0002t0002g0110 a0001c0002t0002g0066 a0001c0002t0002g0110	2	392	0.0051	21	c.584 others(38): Show c.584+2851_584+2852insGTGTGTGTGTGTTATTTATTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897450	G G	GTGTTGTT others(14): Show GTGTTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	392	0.0026	21	c.584 others(38): Show c.584+7575_584+7576insTTGTTGTTGTTGTTGTTGTTG	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRPSAP2_chr17_18853131_18936287	18897453	G G	GTGTTGTT others(14): Show GTGTTGTTGTTGTTGTTGTTGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0163 a0001c0002t0002g0163	1	392	0.0026	21	c.584 others(38): Show c.584+7581_584+7601dupGTTGTTGTTGTTGTTGTTGTT	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRR14L_chr22_31676347_31755132	31677604	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0017 a0017	a0017c0020 a0017c0020	a0017c0020t0019 a0017c0020t0019	a0017c0020t0019g0115 a0017c0020t0019g0115	1	316	0.0032	21	c.79 others(32): Show c.7922_*7923insATATATATATATATTTTTTTT	PRR14L	ENSG00000183530.14	transcript	ENST00000327423.11	protein_coding		3742		chr22	TogoVar
PRR23A_chr3_138998962_139011268	139010701	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	384	0.0052	21	c.-44 others(32): Show c.-4434_-4433insAAAAAAAAAAAAAAAAAAAAA	PRR23A	ENSG00000206260.4	transcript	ENST00000383163.4	protein_coding		4434		chr3	TogoVar
PRRC2B_chr9_131389086_131505193	131420493	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18971.hp1 NA20300.hp1 HG02809.hp2 NA18971.hp1 NA20300.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0002 a0005c0005 a0001c0001 a0003c0002 a0005c0005	a0001c0001t0001 a0003c0002t0001 a0005c0005t0002 a0001c0001t0001 a0003c0002t0001 a0005c0005t0002	a0001c0001t0001g0059 a0003c0002t0001g0045 a0005c0005t0002g0211 a0001c0001t0001g0059 a0003c0002t0001g0045 a0005c0005t0002g0211	3	216	0.0139	21	c.-51 others(38): Show c.-51-9598_-51-9597insCTTTCTTTCTTTCTTTCTTTT	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(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp2 HG02683.hp1 others(2): Show HG00642.hp1 HG01069.hp2 HG02683.hp1 NA18747.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0049 a0001c0001t0001 a0001c0001t0049	a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0074 others(2): Show a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0099 a0001c0001t0049g0120	5	216	0.0232	21	c.112 others(38): Show c.1120+746_1120+766dupAAAAAAAAAAAAAAAAAAAAA	PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRC2C_chr1_171480530_171598511	171518495	T T	TTTTTTTT others(14): Show TTTTTTTTCAATTTTTTTTCAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03492.hp2 HG03579.hp1 others(2): Show HG03225.hp1 HG03492.hp2 HG03579.hp1 NA19060.hp1 NA20805.hp1	a0001 a0016 a0001 a0016	a0001c0001 a0001c0005 a0016c0018 a0001c0001 a0001c0005 a0016c0018	a0001c0001t0004 a0001c0005t0004 a0016c0018t0017 a0001c0001t0004 a0001c0005t0004 a0016c0018t0017	a0001c0001t0004g0082 a0001c0005t0004g0158 a0001c0005t0004g0171 others(2): Show a0001c0001t0004g0082 a0001c0005t0004g0158 a0001c0005t0004g0171 a0001c0005t0004g0276 a0016c0018t0017g0084	5	336	0.0149	21	c.750 others(36): Show c.750+688_750+689insCAATTTTTTTTCAATTTTTTT	PRRC2C	ENSG00000117523.18	transcript	ENST00000647382.2	protein_coding	6/34		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRRT4_chr7_128345325_128366690	128363132	T T	TGGATGCT others(14): Show TGGATGCTTTATAAGAGTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0050 a0001c0005t0005g0050	1	448	0.0022	21	c.-17 others(32): Show c.-1762_-1761insGGAGACTCTTATAAAGCATCC	PRRT4	ENSG00000224940.10	transcript	ENST00000446477.7	protein_coding		1443		chr7	TogoVar
PRRX1_chr1_170659131_170744421	170664088	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG04199.hp1 HG02056.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0047 a0001c0001t0004g0174 a0001c0001t0001g0047 a0001c0001t0004g0174	2	356	0.0056	21	c.-13 others(30): Show c.-131_-130insTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		42		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170664107	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	356	0.0028	21	c.-11 others(30): Show c.-112_-111insTCTCTCTCTCTCTCTCTCTCT	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding		23		chr1	TogoVar
PRRX1_chr1_170659131_170744421	170669425	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG02040.hp1 others(6): Show HG00741.hp2 HG01168.hp2 HG02040.hp1 HG03486.hp1 HG03486.hp2 HG03492.hp2 NA18944.hp1 NA18970.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0026	a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0064 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0053 a0001c0001t0001g0064 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0003g0065 a0001c0001t0005g0009 a0001c0001t0007g0114 a0001c0001t0026g0063	9	356	0.0253	21	c.241 others(38): Show c.241+4975_241+4995dupAAAAAAAAAAAAAAAAAAAAA	PRRX1	ENSG00000116132.12	transcript	ENST00000239461.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRSS48_chr4_151272161_151296862	151275865	C C	CGGAGTCT others(14): Show CGGAGTCTCGCTCTGTCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0086 a0001c0003t0001g0086	1	428	0.0023	21	c.-13 others(32): Show c.-1308_-1307insGGAGTCTCGCTCTGTCGCCCA	PRSS48	ENSG00000189099.12	transcript	ENST00000455694.7	protein_coding		1295		chr4	TogoVar
PRSS55_chr8_10520532_10543819	10543472	C C	CTTTTCTT others(14): Show CTTTTCTTTTCTTTTCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01993.hp2 HG00099.hp2 HG00738.hp1 HG01993.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0011 a0004c0008t0001g0126 a0004c0008t0001g0011 a0004c0008t0001g0126	3	480	0.0063	21	c.46 others(32): Show c.4679_*4680insTTTTCTTTTCTTTTCTTTTCT	PRSS55	ENSG00000184647.11	transcript	ENST00000328655.8	protein_coding		4654		chr8	TogoVar
PRTFDC1_chr10_24843614_24957606	24880815	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA19003.hp1 NA19060.hp2 others(1): Show NA18980.hp1 NA19003.hp1 NA19060.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0002c0003t0004 a0001c0001t0004 a0002c0003t0004	a0001c0001t0004g0208 a0001c0001t0004g0234 a0001c0001t0004g0269 others(1): Show a0001c0001t0004g0208 a0001c0001t0004g0234 a0001c0001t0004g0269 a0002c0003t0004g0080	4	338	0.0118	21	c.340 others(38): Show c.340-8773_340-8753dupAGAAAGAAAGAAAGAAAGAAA	PRTFDC1	ENSG00000099256.19	transcript	ENST00000320152.11	protein_coding	3/8			chr10	TogoVar
PRTG_chr15_55606544_55748152	55645433	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00738.hp2 others(30): Show HG00140.hp2 HG00438.hp1 HG00738.hp2 HG01109.hp2 HG01361.hp2 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG02074.hp1 HG02109.hp2 HG02486.hp2 HG02647.hp2 HG02723.hp2 HG02738.hp1 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03491.hp1 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 HG04204.hp1 NA18962.hp1 NA18974.hp2 NA19000.hp2 NA19012.hp1 NA19043.hp1 NA19077.hp1 NA19082.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 others(13): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0033 a0001c0001t0034 a0001c0001t0042 a0001c0001t0086 a0001c0001t0088 a0001c0001t0091 a0001c0001t0106 a0001c0001t0109 a0001c0001t0119 a0001c0003t0019 a0001c0007t0039 a0001c0007t0116 a0001c0007t0117	a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0149 others(30): Show a0001c0001t0001g0130 a0001c0001t0001g0144 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0006g0163 a0001c0001t0006g0180 a0001c0001t0016g0201 a0001c0001t0033g0103 a0001c0001t0034g0101 a0001c0001t0042g0262 a0001c0001t0042g0280 a0001c0001t0086g0197 a0001c0001t0088g0194 a0001c0001t0091g0190 a0001c0001t0106g0229 a0001c0001t0109g0232 a0001c0001t0119g0160 a0001c0003t0019g0079 a0001c0007t0039g0231 a0001c0007t0116g0109 a0001c0007t0117g0110	33	284	0.1162	21	c.204 others(40): Show c.2042-4226_2042-4225insTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	11/19			chr15	TogoVar
PRTG_chr15_55606544_55748152	55708148	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0049 a0002c0002t0010g0050 a0002c0002t0010g0049 a0002c0002t0010g0050	2	284	0.0070	21	c.398 others(40): Show c.398-24238_398-24218dupTTTTTTTTTTTTTTTTTTTTT	PRTG	ENSG00000166450.13	transcript	ENST00000389286.9	protein_coding	2/19			chr15	TogoVar
PRTN3_chr19_835999_853175	842413	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01928.hp1 HG01934.hp1 others(7): Show HG01884.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02293.hp2 HG02809.hp1 HG03471.hp2 HG03540.hp2 HG03704.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0001 a0002c0002t0005	a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0067 others(7): Show a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0074 a0002c0002t0005g0072 a0002c0002t0005g0073	10	415	0.0241	21	c.62- others(36): Show c.62-1044_62-1024dupTTTTTTTTTTTTTTTTTTTTT	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PRUNE2_chr9_76606376_76911114	76774453	T T	TATTTATT others(14): Show TATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02723.hp2 HG02886.hp2	a0002 a0024 a0002 a0024	a0002c0002 a0024c0034 a0002c0002 a0024c0034	a0002c0002t0001 a0024c0034t0003 a0002c0002t0001 a0024c0034t0003	a0002c0002t0001g0084 a0024c0034t0003g0161 a0002c0002t0001g0084 a0024c0034t0003g0161	2	240	0.0083	21	c.756 others(40): Show c.756+49178_756+49179insTAAATAAATAAATAAATAAAT	PRUNE2	ENSG00000106772.19	transcript	ENST00000376718.8	protein_coding	6/18			chr9	TogoVar

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