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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRKN_chr6_161342417_162732766	161680726	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG03704.hp1 HG01361.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0028 a0001c0001t0001g0030	2	32	0.0625	-24	c.871 others(45): Show c.871+105022_871+105045delATATATATATATATATATATATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161680753	ATATATAT others(17): Show ATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	32	0.0313	-24	c.871 others(45): Show c.871+104995_871+105018delAATATATATATATATATATATATA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161733958	TTACACAC others(17): Show TTACACACACACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18522.hp1 NA18522.hp2 HG02922.hp1 NA18522.hp1 NA18522.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0010 a0001c0003 a0006c0010	a0001c0003t0001 a0001c0003t0003 a0006c0010t0005 a0001c0003t0001 a0001c0003t0003 a0006c0010t0005	a0001c0003t0001g0025 a0001c0003t0003g0027 a0006c0010t0005g0013 a0001c0003t0001g0025 a0001c0003t0003g0027 a0006c0010t0005g0013	3	32	0.0938	-24	c.871 others(43): Show c.871+51790_871+51813delTGTGTGTGTGTGTGTGTGTGTGTA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	7/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161821716	GTTCTTTT others(17): Show GTTCTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0012 a0001c0001t0014g0012	1	32	0.0313	-24	c.735 others(43): Show c.735-35832_735-35809delAAAAAAAAAAAAAAAAAAAAAGAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	161821719	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	32	0.0313	-24	c.735 others(43): Show c.735-35835_735-35812delAAAAAAAAAAAAAAAAAAAAAAAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162021119	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0014 a0001c0008t0010g0014	1	32	0.0313	-24	c.618 others(43): Show c.618+32948_618+32971delATATATATATATATATATATATAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	5/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162063612	TCCGCTCA others(17): Show TCCGCTCACTGCAAACTCTGCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG02258.hp1 others(12): Show HG01192.hp2 HG01361.hp2 HG02258.hp1 HG02602.hp1 HG02647.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03516.hp1 HG03704.hp2 NA18522.hp1 NA18522.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0003c0005 a0003c0006 a0005c0011 a0006c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0003t0001 a0001c0003t0003 a0001c0004t0001 a0001c0008t0010 a0002c0002t0001 a0002c0002t0009 a0003c0005t0001 a0003c0006t0003 a0005c0011t0012 a0006c0010t0005	a0001c0001t0001g0017 a0001c0001t0002g0005 a0001c0001t0014g0012 others(12): Show a0001c0001t0001g0017 a0001c0001t0002g0005 a0001c0001t0014g0012 a0001c0003t0001g0025 a0001c0003t0001g0032 a0001c0003t0003g0027 a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0008t0010g0014 a0002c0002t0001g0016 a0002c0002t0009g0008 a0003c0005t0001g0015 a0003c0006t0003g0004 a0005c0011t0012g0009 a0006c0010t0005g0013	15	32	0.4688	-24	c.535 others(41): Show c.535-9462_535-9439delGGAGGCAGAGTTTGCAGTGAGCGG		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	4/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162213804	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03688.hp1 HG03688.hp2 HG03195.hp2 HG03688.hp1 HG03688.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0007 a0003c0005 a0001c0001 a0002c0007 a0003c0005	a0001c0001t0005 a0002c0007t0013 a0003c0005t0002 a0001c0001t0005 a0002c0007t0013 a0003c0005t0002	a0001c0001t0005g0002 a0002c0007t0013g0018 a0003c0005t0002g0026 a0001c0001t0005g0002 a0002c0007t0013g0018 a0003c0005t0002g0026	3	32	0.0938	-24	c.413 others(43): Show c.413-12576_413-12553delGTGTGTGTGTGTGTGTGTGTGTGT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	3/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162471070	TTTTTTAT others(17): Show TTTTTTATTTATTTATTTATTTTCA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG01884.hp2 others(8): Show HG01192.hp1 HG01361.hp1 HG01884.hp2 HG02897.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0003c0005 a0003c0006 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0004t0001 a0001c0008t0010 a0003c0005t0002 a0003c0006t0003 a0005c0011t0012	a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0007 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0002g0007 a0001c0001t0004g0029 a0001c0001t0005g0002 a0001c0003t0001g0032 a0001c0004t0001g0001 a0001c0008t0010g0014 a0003c0005t0002g0026 a0003c0006t0003g0004 a0005c0011t0012g0009	11	32	0.3438	-24	c.8-2 others(39): Show c.8-27621_8-27598delTGAAAATAAATAAATAAATAAAAA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162553825	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02602.hp1 HG02647.hp1 others(9): Show HG01884.hp2 HG02602.hp1 HG02647.hp1 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp1 HG03195.hp2 HG03704.hp2 NA18522.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0008 a0002c0002 a0002c0007 a0003c0006 a0005c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0003t0001 a0001c0004t0001 a0001c0008t0010 a0002c0002t0009 a0002c0007t0013 a0003c0006t0003 a0005c0011t0012	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0003g0022 others(9): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0003g0022 a0001c0001t0008g0010 a0001c0003t0001g0025 a0001c0004t0001g0001 a0001c0004t0001g0006 a0001c0008t0010g0014 a0002c0002t0009g0008 a0002c0007t0013g0018 a0003c0006t0003g0004 a0005c0011t0012g0009	12	32	0.3750	-24	c.8-1 others(41): Show c.8-110376_8-110353delCTTTTTTTTTTTTTTTTTTTTTTT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162565697	AATACATA others(17): Show AATACATACATACATACATACATAC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	32	0.0313	-24	c.8-1 others(41): Show c.8-122248_8-122225delGTATGTATGTATGTATGTATGTAT		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKN_chr6_161342417_162732766	162584828	CTGTCCCA others(17): Show CTGTCCCATCCCCTCCCCTCCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01361.hp1 HG01192.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0004g0029 a0001c0001t0001g0030 a0001c0001t0004g0029	2	32	0.0625	-24	c.8-1 others(41): Show c.8-141379_8-141356delCAGGGGAGGGGAGGGGATGGGACA		PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	1/11						chr6	TogoVar
PRKX_chrX_3599340_3718649	3639188	AAGCGGTG others(17): Show AAGCGGTGGGTGGGCAGGTGGGTGG	A A	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0034 a0004c0006t0034	a0004c0006t0034g0001 a0004c0006t0034g0001	1	227	0.0044	-24	c.719 others(41): Show c.719+2640_719+2663delCCACCCACCTGCCCACCCACCGCT		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639227	GGGTGGGT others(17): Show GGGTGGGTGGATGGATGAAGGGGTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0057 a0001c0001t0052g0057	1	227	0.0044	-24	c.719 others(41): Show c.719+2601_719+2624delTACCCCTTCATCCATCCACCCACC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639353	GGATGGAT others(17): Show GGATGGATGAAGGGGTGGGGTGGTA	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0075 a0001c0002t0004g0075	1	227	0.0044	-24	c.719 others(41): Show c.719+2475_719+2498delTACCACCCCACCCCTTCATCCATC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639432	TGGGGGTG others(17): Show TGGGGGTGGATGGATGAAGGGGTGG	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0009 a0001c0001t0065g0009	1	227	0.0044	-24	c.719 others(41): Show c.719+2396_719+2419delCCACCCCTTCATCCATCCACCCCC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRKX_chrX_3599340_3718649	3639536	CGGGGTGG others(17): Show CGGGGTGGGTGGGTGGATGGATGAA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0074	a0001c0002t0074g0043 a0001c0002t0074g0043	1	227	0.0044	-24	c.719 others(41): Show c.719+2292_719+2315delTTCATCCATCCACCCACCCACCCC		PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8						chrX	TogoVar
PRLHR_chr10_118584997_118600648	118586926	TTCCCTCC others(17): Show TTCCCTCCACCCCAGGCTGGCCCCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00408.hp2 others(41): Show HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01123.hp1 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01981.hp1 HG02300.hp1 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03669.hp2 HG03688.hp2 HG04184.hp1 HG04199.hp1 NA18747.hp2 NA18948.hp2 NA18957.hp1 NA18968.hp1 NA18992.hp1 NA19000.hp2 NA19005.hp2 NA19063.hp1 NA19064.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0001c0005t0021	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004 others(6): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0004 a0001c0001t0004g0005 a0001c0001t0010g0012 a0001c0001t0016g0020 a0001c0001t0030g0042 a0001c0001t0031g0043 a0001c0005t0021g0055	44	444	0.0991	-24	c.71 others(35): Show c.7182_*7205delTGGGGCCAGCCTGGGGTGGAGGGA		PRLHR	ENSG00000119973.6	transcript	ENST00000239032.4	protein_coding					3070		chr10	TogoVar
PRLH_chr2_237561574_237572175	237565506	CACACATC others(17): Show CACACATCTACACACATACACATCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0001 a0001c0001t0000g0001	1	404	0.0025	-24	c.-10 others(35): Show c.-1067_-1044delACACATCTACACACATACACATCT		PRLH	ENSG00000071677.1	transcript	ENST00000165524.1	protein_coding					1067		chr2	TogoVar
PRL_chr6_22282246_22302036	22293617	GGGAAGGA others(17): Show GGGAAGGAGGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00544.hp2 others(64): Show HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00621.hp1 HG01361.hp2 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02896.hp1 HG02897.hp1 HG03669.hp1 HG03704.hp2 HG04199.hp2 NA18945.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18961.hp2 NA18967.hp2 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18989.hp1 NA18990.hp2 NA18999.hp2 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19055.hp2 NA19060.hp1 NA19064.hp2 NA19072.hp2 NA19074.hp1 NA19076.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19088.hp1 NA19090.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0001 a0001c0002t0001 a0003c0006t0001 a0001c0001t0001 a0001c0002t0001 a0003c0006t0001	a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0002t0001g0002 others(12): Show a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0036 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0054 a0003c0006t0001g0062	67	446	0.1502	-24	c.204 others(39): Show c.204+768_204+791delTTCCTTCCTTCCTTCCCTCCTTCC		PRL	ENSG00000172179.13	transcript	ENST00000306482.2	protein_coding	2/4						chr6	TogoVar
PRNP_chr20_4681456_4706588	4699379	CGGTGGTG others(17): Show CGGTGGTGGCTGGGGGCAGCCTCAT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01433.hp2 homoSapiens_chm13v2.hp1 HG01433.hp2 homoSapiens_chm13v2.hp1	a0003 a0007 a0003 a0007	a0003c0009 a0007c0010 a0003c0009 a0007c0010	a0003c0009t0001 a0007c0010t0001 a0003c0009t0001 a0007c0010t0001	a0003c0009t0001g0065 a0007c0010t0001g0004 a0003c0009t0001g0065 a0007c0010t0001g0004	2	332	0.0060	-24	c.204 others(31): Show c.204_227delTCATGGTGGTGGCTGGGGGCAGCC	p.His others(11): Show p.His69_Pro76del	PRNP	ENSG00000171867.18	transcript	ENST00000379440.9	protein_coding	2/2	271/2435	204/762	68/253		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRNP_chr20_4681456_4706588	4699442	GCAGCCCC others(17): Show GCAGCCCCATGGTGGTGGCTGGGGA	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02602.hp1 HG02602.hp1	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0001 a0003c0014t0001	a0003c0014t0001g0044 a0003c0014t0001g0044	1	332	0.0030	-24	c.228 others(31): Show c.228_251delCCATGGTGGTGGCTGGGGACAGCC	p.His others(11): Show p.His77_Pro84del	PRNP	ENSG00000171867.18	transcript	ENST00000379440.9	protein_coding	2/2	295/2435	228/762	76/253		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRNP_chr20_4681456_4706588	4699448	CCATGGTG others(17): Show CCATGGTGGTGGCTGGGGACAGCCT	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp1 HG01884.hp2 HG02055.hp1 others(19): Show HG00099.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02486.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19090.hp1 NA20129.hp1 NA20752.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0007 others(3): Show a0003c0003t0001 a0003c0003t0003 a0003c0003t0007 a0003c0003t0009 a0003c0003t0012 a0003c0003t0015	a0003c0003t0001g0003 a0003c0003t0001g0006 a0003c0003t0001g0070 others(9): Show a0003c0003t0001g0003 a0003c0003t0001g0006 a0003c0003t0001g0070 a0003c0003t0001g0075 a0003c0003t0001g0077 a0003c0003t0003g0006 a0003c0003t0003g0076 a0003c0003t0007g0006 a0003c0003t0007g0074 a0003c0003t0009g0031 a0003c0003t0012g0006 a0003c0003t0015g0006	22	332	0.0663	-24	c.246 others(31): Show c.246_269delACAGCCTCATGGTGGTGGCTGGGG	p.Gln others(11): Show p.Gln83_Gly90del	PRNP	ENSG00000171867.18	transcript	ENST00000379440.9	protein_coding	2/2	313/2435	246/762	82/253		INFO_REALIGN_3_PRIME	chr20	TogoVar
PROK1_chr1_110446149_110462358	110458039	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00597.hp2 others(33): Show HG00140.hp2 HG00280.hp2 HG00597.hp2 HG00735.hp2 HG00741.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01517.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02886.hp2 HG03130.hp2 HG03486.hp1 HG03927.hp1 HG04115.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18962.hp1 NA18971.hp2 NA18972.hp2 NA18974.hp1 NA18985.hp1 NA18991.hp2 NA19002.hp1 NA19007.hp2 NA19055.hp2 NA19059.hp2 NA19067.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0019 others(3): Show a0002c0002t0001g0001 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0036 a0002c0002t0001g0039	36	456	0.0790	-24	c.16 others(35): Show c.1689_*1712delTTTTTTTTTTTTTTTTTTTTTTTT		PROK1	ENSG00000143125.6	transcript	ENST00000271331.4	protein_coding					682		chr1	TogoVar
PROKR1_chr2_68638579_68663251	68643516	AGACGCTC others(17): Show AGACGCTCCCGCCCAGGGCGATCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0165 a0001c0001t0006g0165	1	442	0.0023	-24	c.-49 others(33): Show c.-492_-469delGACGCTCCCGCCCAGGGCGATCCG		PROKR1	ENSG00000169618.7	transcript	ENST00000303786.5	protein_coding					62		chr2	TogoVar
PROKR2_chr20_5294218_5321954	5298399	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGCGCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0032 a0005c0009t0032	a0005c0009t0032g0068 a0005c0009t0032g0068	1	424	0.0024	-24	c.36 others(35): Show c.3617_*3640delGCGCGCGCGCACACACACACACAC		PROKR2	ENSG00000101292.8	transcript	ENST00000678254.1	protein_coding					818		chr20	TogoVar
PRORP_chr14_35117552_35282622	35208945	CACTTGAA others(17): Show CACTTGAACTTGGGAGGCAGAGGTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01257.hp2 others(3): Show HG00099.hp2 HG00741.hp1 HG01257.hp2 HG01975.hp1 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0170 a0001c0001t0007g0171 others(3): Show a0001c0001t0007g0050 a0001c0001t0007g0170 a0001c0001t0007g0171 a0001c0001t0007g0172 a0001c0001t0007g0173 a0001c0001t0007g0176	6	314	0.0191	-24	c.127 others(45): Show c.1275+28169_1275+28192delACTTGAACTTGGGAGGCAGAGGTT		PRORP	ENSG00000100890.16	transcript	ENST00000534898.9	protein_coding	5/7						chr14	TogoVar
PROS1_chr3_93868051_93978896	93971355	CTAAATAA others(17): Show CTAAATAAATAAATAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0199 a0008c0011t0001g0199	1	314	0.0032	-24	c.76+ others(39): Show c.76+2295_76+2318delTTTATTTATTTATTTATTTATTTA		PROS1	ENSG00000184500.16	transcript	ENST00000394236.9	protein_coding	1/14						chr3	TogoVar
PROSER2_chr10_11818356_11877277	11840939	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG04184.hp1 HG03239.hp2 HG04184.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0004 a0004c0003t0004	a0004c0003t0004g0186 a0004c0003t0004g0236 a0004c0003t0004g0186 a0004c0003t0004g0236	2	348	0.0058	-24	c.-81 others(43): Show c.-81-11056_-81-11033delAAAAAAAAAAAAAAAATATATATA		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840941	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18990.hp2 NA19066.hp2 HG00738.hp1 NA18990.hp2 NA19066.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0015 a0004c0003t0004 a0001c0001t0015 a0004c0003t0004	a0001c0001t0015g0016 a0001c0001t0015g0029 a0004c0003t0004g0265 a0001c0001t0015g0016 a0001c0001t0015g0029 a0004c0003t0004g0265	3	348	0.0086	-24	c.-81 others(43): Show c.-81-11054_-81-11031delAAAAAAAAAAAAAATATATATATA		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840943	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01081.hp1 HG01175.hp2 others(15): Show HG00597.hp1 HG01081.hp1 HG01175.hp2 HG01346.hp1 HG02148.hp2 NA18747.hp2 NA18940.hp1 NA18955.hp1 NA18970.hp1 NA18979.hp1 NA18987.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp2 NA19010.hp2 NA19056.hp1 NA19065.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0096 a0001c0001t0001g0112 a0001c0001t0001g0128 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0314	18	348	0.0517	-24	c.-81 others(43): Show c.-81-11052_-81-11029delAAAAAAAAAAAATATATATATATA		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840945	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	348	0.0029	-24	c.-81 others(43): Show c.-81-11050_-81-11027delAAAAAAAAAATATATATATATATA		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROSER2_chr10_11818356_11877277	11840949	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01433.hp2 HG02080.hp2 HG01168.hp2 HG01433.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0087 a0001c0001t0001g0259 a0001c0001t0002g0232 a0001c0001t0001g0087 a0001c0001t0001g0259 a0001c0001t0002g0232	3	348	0.0086	-24	c.-81 others(43): Show c.-81-11046_-81-11023delAAAAAATATATATATATATATATA		PROSER2	ENSG00000148426.14	transcript	ENST00000277570.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr10	TogoVar
PROX1_chr1_213982973_214046510	213994750	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03831.hp2 homoSapiens_chm13v2.hp1 HG01433.hp2 HG03831.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0086 a0001c0001t0001 a0001c0001t0002 a0001c0004t0086	a0001c0001t0001g0127 a0001c0001t0002g0172 a0001c0004t0086g0226 a0001c0001t0001g0127 a0001c0001t0002g0172 a0001c0004t0086g0226	3	274	0.0110	-24	c.-67 others(41): Show c.-67-1689_-67-1666delTATATATATATATATATATATATA		PROX1	ENSG00000117707.17	transcript	ENST00000366958.9	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr1	TogoVar
PROX2_chr14_74848033_74881145	74868313	TTATATAT others(17): Show TTATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	384	0.0026	-24	c.-17 others(43): Show c.-175+2766_-175+2789delTATATATATATATATATATATATA		PROX2	ENSG00000119608.15	transcript	ENST00000556489.4	protein_coding	2/5						chr14	TogoVar
PRPF19_chr11_60885547_60911585	60908843	TGAGGGCT others(17): Show TGAGGGCTAGCAAATAATTTTTAGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02886.hp2 HG06807.hp2 others(2): Show HG01109.hp1 HG02886.hp2 HG06807.hp2 NA19030.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0035 a0001c0001t0007g0009 a0001c0001t0006g0035 a0001c0001t0007g0009	5	350	0.0143	-24	c.-24 others(35): Show c.-2485_-2462delCCTAAAAATTATTTGCTAGCCCTC		PRPF19	ENSG00000110107.9	transcript	ENST00000227524.9	protein_coding					2259		chr11	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02572.hp1 NA18952.hp1 others(1): Show HG01978.hp2 HG02572.hp1 NA18952.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0003	a0001c0001t0004g0034 a0001c0002t0002g0074 a0001c0002t0003g0217 a0001c0001t0004g0034 a0001c0002t0002g0074 a0001c0002t0003g0217	4	426	0.0094	-24	c.750 others(39): Show c.750-859_750-836delTTTTTTTTTTTTTTTTTTTTTTTT		PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRPH2_chr6_42691598_42727597	42705581	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	392	0.0026	-24	c.582 others(39): Show c.582-994_582-971delATATATTTTTTTTTTTTTTTTTTT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH2_chr6_42691598_42727597	42705583	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02155.hp1 HG02735.hp1 others(5): Show HG00741.hp2 HG02155.hp1 HG02735.hp1 HG02922.hp2 HG04115.hp2 NA18979.hp1 NA19240.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0008	a0001c0001t0001g0191 a0001c0001t0002g0101 a0001c0001t0004g0052 others(5): Show a0001c0001t0001g0191 a0001c0001t0002g0101 a0001c0001t0004g0052 a0001c0001t0004g0077 a0001c0001t0004g0079 a0001c0001t0004g0080 a0001c0001t0004g0172 a0001c0002t0008g0304	8	392	0.0204	-24	c.582 others(39): Show c.582-996_582-973delATATATATTTTTTTTTTTTTTTTT		PRPH2	ENSG00000112619.8	transcript	ENST00000230381.7	protein_coding	1/2						chr6	TogoVar
PRPH_chr12_49290147_49303686	49299542	TAAGAAGA others(17): Show TAAGAAGAAGAAGAAGAAGAAGAAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0004	1	382	0.0026	-24	c.11 others(35): Show c.1190_*1213delAAGAAGAAGAAGAAGAAGAAGAAG		PRPH	ENSG00000135406.15	transcript	ENST00000257860.9	protein_coding					857		chr12	TogoVar
PRR12_chr19_49586182_49631439	49615525	ACCCAGAG others(17): Show ACCCAGAGAGGGAGGGGGTCAGAGT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01175.hp2 others(9): Show HG01070.hp1 HG01071.hp1 HG01175.hp2 HG02145.hp1 HG02723.hp2 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 NA19043.hp1	a0002 a0010 a0002 a0010	a0002c0004 a0002c0015 a0002c0035 others(1): Show a0002c0004 a0002c0015 a0002c0035 a0010c0032	a0002c0004t0004 a0002c0004t0007 a0002c0015t0001 others(2): Show a0002c0004t0004 a0002c0004t0007 a0002c0015t0001 a0002c0035t0004 a0010c0032t0004	a0002c0004t0004g0040 a0002c0004t0004g0041 a0002c0004t0004g0043 others(9): Show a0002c0004t0004g0040 a0002c0004t0004g0041 a0002c0004t0004g0043 a0002c0004t0004g0044 a0002c0004t0004g0045 a0002c0004t0007g0034 a0002c0004t0007g0035 a0002c0004t0007g0036 a0002c0015t0001g0038 a0002c0015t0001g0039 a0002c0035t0004g0042 a0010c0032t0004g0046	12	322	0.0373	-24	c.502 others(41): Show c.5025-157_5025-134delGTCAGAGTCCCAGAGAGGGAGGGG		PRR12	ENSG00000126464.15	transcript	ENST00000418929.7	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
PRR14_chr16_30645960_30661413	30647107	AGAAGGAA others(17): Show AGAAGGAAGGAAGGAAGGAAGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02886.hp1 others(3): Show HG02109.hp1 HG02647.hp1 HG02886.hp1 HG03130.hp2 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	6	296	0.0203	-24	c.-40 others(35): Show c.-4070_-4047delGAAGGAAGGAAGGAAGGAAGGAAG		PRR14	ENSG00000156858.12	transcript	ENST00000300835.9	protein_coding					3852		chr16	TogoVar
PRR14_chr16_30645960_30661413	30647219	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0001 a0008c0014t0001	a0008c0014t0001g0001 a0008c0014t0001g0001	1	296	0.0034	-24	c.-39 others(35): Show c.-3958_-3935delAGAAAGAAAGAAAGAAAGAAAGAA		PRR14	ENSG00000156858.12	transcript	ENST00000300835.9	protein_coding					3740		chr16	TogoVar
PRR23C_chr3_139037102_139049892	139047999	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG01069.hp1 others(31): Show HG00544.hp2 HG00609.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG02027.hp2 HG02040.hp1 HG03704.hp2 HG04204.hp1 NA18747.hp2 NA18941.hp2 NA18945.hp2 NA18950.hp2 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18978.hp2 NA18979.hp1 NA18988.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19058.hp2 NA19059.hp2 NA19062.hp2 NA19072.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0010 a0001c0002 a0003c0010	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0003c0010t0003	a0001c0002t0002g0000 a0001c0002t0003g0000 a0001c0002t0006g0000 others(3): Show a0001c0002t0002g0000 a0001c0002t0003g0000 a0001c0002t0006g0000 a0001c0002t0011g0000 a0001c0002t0013g0000 a0003c0010t0003g0000	34	426	0.0798	-24	c.-34 others(35): Show c.-3403_-3380delATATATATATATATATATATATAT		PRR23C	ENSG00000233701.3	transcript	ENST00000413199.1	protein_coding					3108		chr3	TogoVar
PRR35_chr16_555394_570529	562509	ATGCACAC others(17): Show ATGCACACACAGGCGCACACACGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp2 others(72): Show HG00280.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02723.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp2 NA18966.hp2 NA18980.hp1 NA18982.hp1 NA18985.hp1 NA18986.hp2 NA18987.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19030.hp1 NA19043.hp1 NA19065.hp1 NA19066.hp2 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19240.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0013 a0014 a0015	a0001c0001 a0001c0003 a0001c0012 others(8): Show a0001c0001 a0001c0003 a0001c0012 a0001c0019 a0003c0004 a0003c0022 a0004c0006 a0005c0007 a0013c0021 a0014c0016 a0015c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0003t0001 a0001c0003t0004 a0001c0003t0005 a0001c0003t0015 a0001c0012t0004 a0001c0019t0001 a0003c0004t0006 a0003c0004t0008 a0003c0004t0017 a0003c0022t0006 a0004c0006t0005 a0005c0007t0003 a0013c0021t0003 a0014c0016t0006 a0015c0013t0002	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0040 others(45): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0061 a0001c0001t0001g0082 a0001c0001t0001g0107 a0001c0001t0001g0148 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0042 a0001c0001t0002g0084 a0001c0001t0002g0097 a0001c0001t0002g0106 a0001c0001t0002g0134 a0001c0001t0003g0007 a0001c0001t0003g0012 a0001c0001t0003g0022 a0001c0001t0003g0100 a0001c0001t0003g0108 a0001c0001t0003g0122 a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0004g0163 a0001c0001t0007g0157 a0001c0001t0014g0099 a0001c0003t0001g0013 a0001c0003t0001g0060 a0001c0003t0001g0127 a0001c0003t0001g0135 a0001c0003t0004g0165 a0001c0003t0005g0013 a0001c0003t0015g0160 a0001c0012t0004g0172 a0001c0019t0001g0096 a0003c0004t0006g0026 a0003c0004t0006g0075 a0003c0004t0006g0081 a0003c0004t0008g0051 a0003c0004t0008g0161 a0003c0004t0017g0109 a0003c0022t0006g0098 a0004c0006t0005g0041 a0004c0006t0005g0101 a0005c0007t0003g0007 a0013c0021t0003g0150 a0014c0016t0006g0083 a0015c0013t0002g0120	75	424	0.1769	-24	c.-39 others(39): Show c.-39-736_-39-713delGGCGCACACACGTGTGCACACACA		PRR35	ENSG00000161992.6	transcript	ENST00000409413.4	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
PRR5L_chr11_36291288_36470204	36350930	TTATATAT others(17): Show TTATATATTTATATATATATATTTA	T T	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0132 a0003c0006t0001g0132	1	272	0.0037	-24	c.-12 others(45): Show c.-125-50051_-125-50028delATATATTTATATATATTTATATAT		PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36351611	TTATATAT others(17): Show TTATATATTTATATATTTATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18950.hp2 NA18969.hp1 others(3): Show HG00621.hp2 NA18950.hp2 NA18969.hp1 NA18991.hp1 NA19057.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011	a0001c0001t0001g0089 a0001c0001t0001g0246 a0001c0001t0002g0087 others(3): Show a0001c0001t0001g0089 a0001c0001t0001g0246 a0001c0001t0002g0087 a0001c0001t0002g0091 a0001c0001t0003g0090 a0001c0001t0011g0088	6	272	0.0221	-24	c.-12 others(45): Show c.-125-49347_-125-49324delTTTATATAAATATATATTTATATA		PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRR5L_chr11_36291288_36470204	36374085	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0062 a0001c0002t0005g0062	1	272	0.0037	-24	c.-12 others(45): Show c.-125-26909_-125-26886delTCCTTCCTTCCTTCCTTCCTCTCT		PRR5L	ENSG00000135362.14	transcript	ENST00000530639.6	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr11	TogoVar
PRRC2B_chr9_131389086_131505193	131430516	TAGATAGA others(17): Show TAGATAGATAGATATCTATCTATAG	T T	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01975.hp2 NA20300.hp2 HG01123.hp1 HG01975.hp2 NA20300.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0005 a0004c0004 a0005c0005	a0004c0004t0005 a0005c0005t0001 a0004c0004t0005 a0005c0005t0001	a0004c0004t0005g0123 a0005c0005t0001g0107 a0005c0005t0001g0108 a0004c0004t0005g0123 a0005c0005t0001g0107 a0005c0005t0001g0108	3	216	0.0139	-24	c.115 others(39): Show c.115+259_115+282delGATAGATAGATATCTATCTATAGA		PRRC2B	ENSG00000288701.1	transcript	ENST00000683519.1	protein_coding	2/31					INFO_REALIGN_3_PRIME	chr9	TogoVar
PRRG3_chrX_151690458_151710924	151703856	GGTTTTTT others(17): Show GGTTTTTTTTTTTTTTTTTTTTTTT	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG06807.hp2 NA19070.hp1 NA20300.hp1 HG06807.hp2 NA19070.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0061 a0001c0001t0142 a0002c0002t0101 a0001c0001t0061 a0001c0001t0142 a0002c0002t0101	a0001c0001t0061g0019 a0001c0001t0142g0001 a0002c0002t0101g0017 a0001c0001t0061g0019 a0001c0001t0142g0001 a0002c0002t0101g0017	3	336	0.0089	-24	c.28 others(35): Show c.2824_*2847delGTTTTTTTTTTTTTTTTTTTTTTT		PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4				2824		chrX	TogoVar

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