Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
POLR1A_chr2_86015216_86110886	86058415	TTTTTTAA others(32): Show TTTTTTAAATAGAGATGGGGGTCTCACTGTGTTGCCAGGC	T T	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0035 a0002c0003t0002g0035	1	340	0.0029	-39	c.205 others(58): Show c.2059-4165_2059-4127delGCCTGGCAACACAGTGAGACCCCCAT CTCTATTTAAAAA	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	14/33			chr2	TogoVar
POLR1D_chr13_27616892_27628449	27619238	TGTTATTC others(32): Show TGTTATTCATGGCTCAACAAAGCTTTGACAAGCCAAAAAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00741.hp1 others(19): Show HG00140.hp1 HG00621.hp1 HG00741.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG02040.hp1 HG02055.hp2 HG02155.hp1 HG02602.hp2 HG02683.hp1 HG02809.hp1 HG02976.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03834.hp2 HG03942.hp1 NA18522.hp2 NA18967.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0003g0001	22	438	0.0502	-39	c.-27 others(50): Show c.-2745_-2707delGTTATTCATGGCTCAACAAAGCTTTGACAAGCCA AAAAG	POLR1D	ENSG00000186184.20	transcript	ENST00000302979.5	protein_coding		2653		chr13	TogoVar
POLR2K_chr8_100145636_100159003	100158902	ATTGTTCA others(32): Show ATTGTTCAGTTATAGATCCACCTCCTCGTTGTACTCTTTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	430	0.0023	-39	c.55 others(50): Show c.5587_*5625delTTGTTCAGTTATAGATCCACCTCCTCGTTGTACT CTTTC	POLR2K	ENSG00000147669.11	transcript	ENST00000353107.8	protein_coding		4900		chr8	TogoVar
POMGNT2_chr3_43074234_43111079	43090009	GGGTTTTA others(32): Show GGGTTTTAACATCACCTCCAGTCAGCCTTGTTCATCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	378	0.0027	-39	c.-10 others(58): Show c.-105-8512_-105-8474delTAGAGATGAACAAGGCTGACTGGAGG TGATGTTAAAACC	POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1			chr3	TogoVar
POTEG_chr14_19397486_19439341	19434934	CGCGCGTG others(32): Show CGCGCGTGCGGCGTGCGCGTGCGGCGTGCGCGTGCGGCGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG02071.hp1 HG02300.hp1 others(3): Show HG01952.hp1 HG02071.hp1 HG02300.hp1 HG03225.hp2 NA18959.hp2 NA20129.hp2	a0002 a0003 a0012 others(2): Show a0002 a0003 a0012 a0031 a0035	a0002c0002 a0003c0027 a0012c0012 others(2): Show a0002c0002 a0003c0027 a0012c0012 a0031c0020 a0035c0024	a0002c0002t0002 a0003c0027t0004 a0012c0012t0004 others(2): Show a0002c0002t0002 a0003c0027t0004 a0012c0012t0004 a0031c0020t0006 a0035c0024t0002	a0002c0002t0002g0087 a0002c0002t0002g0092 a0003c0027t0004g0048 others(3): Show a0002c0002t0002g0087 a0002c0002t0002g0092 a0003c0027t0004g0048 a0012c0012t0004g0042 a0031c0020t0006g0076 a0035c0024t0002g0082	6	111	0.0541	-39	c.-68 others(48): Show c.-684_-646delACGCCGCACGCGCACGCCGCACGCGCACGCCGCACG CGC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		594		chr14	TogoVar
PP2D1_chr3_19980346_20017264	20009713	TTAGCAAC others(32): Show TTAGCAACCTTCATACATGATTTACACGTGGCAATATAAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0214 a0001c0001t0007g0214	1	396	0.0025	-39	c.23+ others(54): Show c.23+2298_23+2336delTTTATATTGCCACGTGTAAATCATGTATGA AGGTTGCTA	PP2D1	ENSG00000183977.14	transcript	ENST00000389050.5	protein_coding	1/2			chr3	TogoVar
PPEF2_chr4_75854867_75907452	75885701	AAAAAATA others(32): Show AAAAAATATAAAAAATTAGTCCATCGTAGGCCAGGCGCGG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	270	0.0037	-39	c.580 others(54): Show c.580-980_580-942delCCGCGCCTGGCCTACGATGGACTAATTTTT TATATTTTT	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	7/16			chr4	TogoVar
PPIL2_chr22_21661012_21702907	21677223	AGGCAGAG others(32): Show AGGCAGAGGCGCTCCTCACATCCCAGACGATGGGTGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(67): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01981.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02698.hp1 HG02922.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18948.hp2 NA18950.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp2 NA18997.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp2 NA19083.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0002 a0001c0001t0002 a0003c0007t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 others(48): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0160 a0001c0001t0002g0162 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0183 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0003c0007t0002g0067	70	378	0.1852	-39	c.295 others(56): Show c.295+2116_295+2154delGCGCTCCTCACATCCCAGACGATGGGTG GCTGGGCAGAG	PPIL2	ENSG00000100023.20	transcript	ENST00000398831.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPP1R12C_chr19_55085918_55122637	55102244	TGGCTCAC others(32): Show TGGCTCACGCCTGTAACCCCAGCATTTTGGAAGACTGAGG	T T	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	390	0.0026	-39	c.731 others(56): Show c.731+1126_731+1164delCCTCAGTCTTCCAAAATGCTGGGGTTAC AGGCGTGAGCC	PPP1R12C	ENSG00000125503.13	transcript	ENST00000263433.8	protein_coding	4/21			chr19	TogoVar
PPP2R3B_chrX_328933_391907	341110	CGTCCCCC others(32): Show CGTCCCCCTGTGCCGTGCAGCCCCCACCAGGCGTGCACAT	C C	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp2 HG02165.hp1 others(18): Show HG01071.hp1 HG01071.hp2 HG02165.hp1 HG02165.hp2 HG02630.hp1 HG02965.hp1 HG03209.hp1 HG03471.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04199.hp1 NA18940.hp1 NA18960.hp1 NA18994.hp1 NA19079.hp1 NA19086.hp1 NA19088.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0007 a0002c0003 others(8): Show a0001c0001 a0001c0007 a0002c0003 a0002c0004 a0002c0008 a0003c0013 a0005c0009 a0006c0010 a0007c0006 a0008c0005 a0009c0011	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0007t0008 a0002c0003t0003 a0002c0004t0002 a0002c0008t0002 a0003c0013t0006 a0005c0009t0009 a0006c0010t0011 a0007c0006t0004 a0008c0005t0003 a0009c0011t0013	a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 others(18): Show a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0005g0003 a0001c0001t0007g0016 a0001c0007t0008g0015 a0002c0003t0003g0011 a0002c0003t0003g0013 a0002c0004t0002g0005 a0002c0004t0002g0009 a0002c0008t0002g0007 a0003c0013t0006g0025 a0005c0009t0009g0012 a0006c0010t0011g0002 a0007c0006t0004g0001 a0008c0005t0003g0006 a0009c0011t0013g0023	21	25	0.8400	-39	c.117 others(56): Show c.1175+158_1176-171delATGTGCACGCCTGGTGGGGGCTGCACGG CACAGGGGGAC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	9/12			chrX	TogoVar
PPP2R3B_chrX_328933_391907	346882	CGGTGTAG others(32): Show CGGTGTAGACGCCGGCCCTCCCGTGAGGGATGAGGCGTAT	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0024 a0004c0012t0010g0024	1	25	0.0400	-39	c.718 others(54): Show c.718-146_718-108delATACGCCTCATCCCTCACGGGAGGGCCGGC GTCTACACC	PPP2R3B	ENSG00000167393.18	transcript	ENST00000390665.9	protein_coding	4/12			chrX	TogoVar
PPP2R5D_chr6_42979570_43017342	42998033	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	306	0.0033	-39	c.105 others(56): Show c.105+8347_105+8385delATATATATATATATATATATATATTTTT TTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998035	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp1 NA18522.hp1 others(1): Show HG02615.hp2 HG02809.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0254 others(1): Show a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0254 a0001c0001t0001g0264	4	306	0.0131	-39	c.105 others(56): Show c.105+8349_105+8387delATATATATATATATATATATATTTTTTT TTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP2R5D_chr6_42979570_43017342	42998037	ATATATAT others(32): Show ATATATATATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0253 a0001c0001t0001g0244 a0001c0001t0001g0253	2	306	0.0065	-39	c.105 others(56): Show c.105+8351_106-8386delATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	PPP2R5D	ENSG00000112640.16	transcript	ENST00000485511.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP3CA_chr4_101018418_101352526	101106437	GAAAGAAA others(32): Show GAAAGAAAGAAAGAAAGAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0073 a0001c0001t0073	a0001c0001t0073g0191 a0001c0001t0073g0191	1	192	0.0052	-39	c.384 others(56): Show c.384+2478_384+2516delTCTTTTCTTTTCTTTTCTTTTCTCTTTC TTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP6R2_chr22_50338327_50450090	50339213	GTGTAGGG others(32): Show GTGTAGGGTGTGTGGTGTGTTTACGGTGTGTGTTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	340	0.0029	-39	c.-44 others(50): Show c.-4484_-4446delTGTAGGGTGTGTGGTGTGTTTACGGTGTGTGTTG TGTGT	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding		4113		chr22	TogoVar
PQBP1_chrX_48892930_48908143	48907163	CATCTCAA others(32): Show CATCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATAACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	307	0.0033	-39	c.40 others(50): Show c.4080_*4118delATCTCAAAAAAAAAAAAAAAGAAAGAAAGAAATA ACCAT	PQBP1	ENSG00000102103.18	transcript	ENST00000447146.7	protein_coding		4021		chrX	TogoVar
PRAMEF26_chr1_13143907_13161009	13159204	GCCTACTG others(32): Show GCCTACTGTTCCAAAATCATATAGACCTTAGATTACAGTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0114 a0001c0001t0014g0114	1	229	0.0044	-39	c.-33 others(50): Show c.-3376_-3338delAACTGTAATCTAAGGTCTATATGATTTTGGAACA GTAGG	PRAMEF26	ENSG00000280267.7	transcript	ENST00000624207.2	protein_coding		3196		chr1	TogoVar
PRAP1_chr10_133342373_133357683	133350423	ATGACCCC others(32): Show ATGACCCCAGGTGGACGAGGTGGGTCCAGATGAGCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	388	0.0026	-39	c.75+ others(52): Show c.75+277_75+315delCGAGGTGGGTCCAGATGAGCCCCCGTGACCCC AGGTGGA	PRAP1	ENSG00000165828.15	transcript	ENST00000433452.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRDM15_chr21_41793225_41884344	41806117	CCACCACC others(32): Show CCACCACCATCACCACCACCATCACCACCACCACCACCAT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0035 a0001c0035	a0001c0035t0002 a0001c0035t0002	a0001c0035t0002g0019 a0001c0035t0002g0019	1	406	0.0025	-39	c.265 others(58): Show c.2653-1542_2653-1504delATGGTGGTGGTGGTGGTGATGGTGGT GGTGATGGTGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41806138	TCACCACC others(32): Show TCACCACCACCACCACCATCACCATCACCACCACCATCAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG03516.hp1 HG02622.hp1 HG02647.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0009g0318 a0001c0005t0009g0117 a0001c0005t0009g0118 a0001c0005t0009g0318	3	406	0.0074	-39	c.265 others(58): Show c.2653-1563_2653-1525delGTGATGGTGGTGGTGATGGTGATGGT GGTGGTGGTGGTG	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41832332	CTTACAGC others(32): Show CTTACAGCACTGTGGCATCGGATCACCACAGGCCACACCT	C C	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0190 a0001c0006t0009g0190	1	406	0.0025	-39	c.136 others(58): Show c.1366+3066_1366+3104delAGGTGTGGCCTGTGGTGATCCGATGC CACAGTGCTGTAA	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	11/23			chr21	TogoVar
PRDM15_chr21_41793225_41884344	41832475	CAGGCCAC others(32): Show CAGGCCACACCTTTACAGTGCTGTGGCAACGGATCACCAT	C C	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0298 a0001c0003t0001g0298	1	406	0.0025	-39	c.136 others(58): Show c.1366+2923_1366+2961delATGGTGATCCGTTGCCACAGCACTGT AAAGGTGTGGCCT	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	11/23			chr21	TogoVar
PRDM16_chr1_3064203_3443621	3231385	TGGACAGC others(32): Show TGGACAGCGGTCAAGGCCGTCTCCCCTTCTCCGTCGTCAG	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03486.hp2 HG02886.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0022 a0002c0007 a0001c0022 a0002c0007	a0001c0022t0057 a0002c0007t0001 a0001c0022t0057 a0002c0007t0001	a0001c0022t0057g0139 a0002c0007t0001g0001 a0001c0022t0057g0139 a0002c0007t0001g0001	2	210	0.0095	-39	c.388 others(58): Show c.388-12681_388-12643delTCCCCTTCTCCGTCGTCAGGGACAGC GGTCAAGGCCGTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3286838	ATGGGACT others(32): Show ATGGGACTCAAAGCTGGGTCTGCCCACCCTTCCTGGGTGC	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0097 a0001c0001t0008g0097	1	210	0.0048	-39	c.438 others(58): Show c.438+42805_438+42843delCCCTTCCTGGGTGCTGGGACTCAAAG CTGGGTCTGCCCA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3286942	CCCTTCCT others(32): Show CCCTTCCTGGGTGCTGGGACTCAAAGCTGGGTCTGCCCAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0027 a0001c0001t0083g0027	1	210	0.0048	-39	c.438 others(58): Show c.438+42821_438+42859delGGACTCAAAGCTGGGTCTGCCCAACC TTCCTGGGTGCTG	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3433482	GCTGCCTG others(32): Show GCTGCCTGTCTGGGATGGCCCGCCCTGCCCACGCGCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00597.hp1 others(25): Show HG00140.hp2 HG00438.hp2 HG00597.hp1 HG00673.hp2 HG00738.hp1 HG01123.hp2 HG01243.hp2 HG01517.hp2 HG01891.hp2 HG02258.hp2 HG02615.hp1 HG02717.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18970.hp1 NA18983.hp2 NA19005.hp2 NA19010.hp2 NA19030.hp1 NA20129.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0002c0003 a0002c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0034 a0001c0001t0048 a0001c0001t0069 a0001c0001t0072 a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 a0001c0002t0018 a0001c0002t0061 a0001c0002t0062 a0001c0004t0029 a0001c0004t0073 a0001c0006t0039 a0002c0003t0004 a0002c0003t0029 a0002c0003t0059 a0002c0007t0002 a0003c0005t0001	a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0002g0012 others(25): Show a0001c0001t0001g0165 a0001c0001t0001g0175 a0001c0001t0002g0012 a0001c0001t0006g0155 a0001c0001t0034g0075 a0001c0001t0048g0151 a0001c0001t0069g0115 a0001c0001t0072g0008 a0001c0001t0077g0036 a0001c0002t0001g0187 a0001c0002t0002g0135 a0001c0002t0002g0169 a0001c0002t0018g0085 a0001c0002t0018g0198 a0001c0002t0061g0093 a0001c0002t0062g0191 a0001c0004t0029g0044 a0001c0004t0073g0143 a0001c0006t0039g0140 a0002c0003t0004g0048 a0002c0003t0004g0068 a0002c0003t0004g0123 a0002c0003t0004g0127 a0002c0003t0004g0128 a0002c0003t0029g0106 a0002c0003t0059g0037 a0002c0007t0002g0045 a0003c0005t0001g0171	28	210	0.1333	-39	c.369 others(54): Show c.3697-68_3697-30delTGGGATGGCCCGCCCTGCCCACGCGCTCAC CTGCCTGTC	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM8_chr4_80192503_80209329	80208067	CCACACAC others(32): Show CCACACACACCACACACACACCACACACACACACCACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18983.hp1 NA19006.hp2 NA18955.hp2 NA18983.hp1 NA19006.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0140 a0001c0002t0002g0062 a0001c0002t0002g0140	3	420	0.0071	-39	c.45 others(50): Show c.4536_*4574delCACACACACCACACACACACCACACACACACACC ACACA	PRDM8	ENSG00000152784.16	transcript	ENST00000415738.3	protein_coding		3739		chr4	TogoVar
PRDX6_chr1_173472335_173493815	173484193	TACATATA others(32): Show TACATATATATACATATGCACACGTATATAATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	402	0.0025	-39	c.253 others(56): Show c.253-1156_253-1118delCATATGCACACGTATATAATATATATAC ACATATATATA	PRDX6	ENSG00000117592.9	transcript	ENST00000340385.6	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRG2_chr11_57381780_57395650	57390479	TAACCTGA others(32): Show TAACCTGAAAGCCACAGGTAGACGCCTGCCAGCCCTCCAG	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	404	0.0025	-39	c.-13 others(53): Show c.-13+78_-13+116delCTGGAGGGCTGGCAGGCGTCTACCTGTGGCT TTCAGGTT	PRG2	ENSG00000186652.10	transcript	ENST00000311862.10	protein_coding	1/5			chr11	TogoVar
PRIMPOL_chr4_184644738_184699952	184676752	CCCCCTTC others(32): Show CCCCCTTCCCTTCCCTTTCTTTCTCCCTTCCCTTCCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01358.hp2 others(2): Show HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01516.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0274 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276	5	328	0.0152	-39	c.845 others(56): Show c.845-1479_845-1441delCCCCTTCCCTTCCCTTTCTTTCTCCCTT CCCTTCCCCCT	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13			chr4	TogoVar
PRKAG2_chr7_151551127_151882115	151874486	TATGATGT others(32): Show TATGATGTATATGTATATGATGTATATGTATATGTATATG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	252	0.0040	-39	c.114 others(56): Show c.114+1982_114+2020delCATATACATATACATATACATCATATAC ATATACATCAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCA_chr17_66297613_66815743	66799415	GTGGTGGT others(32): Show GTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0115 a0001c0002t0021g0115	1	178	0.0056	-39	c.185 others(58): Show c.1855-4449_1855-4411delATGGTGGTGGTGGTGATGGTGGTGGT GGTGATGGTGGTG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCE_chr2_45646675_46192990	45744461	CTTTCTTT others(32): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0157 a0001c0001t0006g0157	1	168	0.0060	-39	c.348 others(58): Show c.348+92048_348+92086delTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTTTTCTTTC	PRKCE	ENSG00000171132.14	transcript	ENST00000306156.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
PRKCH_chr14_61316579_61555976	61444460	CCTGTAGG others(32): Show CCTGTAGGCATTAGTGGTGATGGCCCCTGACCTGAACTGA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00639.hp1 others(23): Show HG00280.hp2 HG00544.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01192.hp2 HG01891.hp2 HG02027.hp2 HG02145.hp1 HG02155.hp2 HG02451.hp2 HG02630.hp1 HG02735.hp1 HG03209.hp2 HG03491.hp1 HG03492.hp1 HG03654.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 NA18992.hp2 NA19065.hp2 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0023 a0001c0002t0001 a0001c0002t0013 a0001c0003t0001 a0001c0003t0005 a0001c0003t0014 a0001c0004t0002 a0001c0009t0002	a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0121 others(23): Show a0001c0001t0001g0040 a0001c0001t0001g0070 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0158 a0001c0001t0001g0175 a0001c0001t0002g0078 a0001c0001t0004g0048 a0001c0001t0007g0166 a0001c0001t0023g0125 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0079 a0001c0002t0001g0106 a0001c0002t0001g0111 a0001c0002t0001g0204 a0001c0002t0013g0075 a0001c0003t0001g0100 a0001c0003t0001g0107 a0001c0003t0001g0108 a0001c0003t0001g0145 a0001c0003t0001g0146 a0001c0003t0005g0194 a0001c0003t0014g0196 a0001c0004t0002g0205 a0001c0009t0002g0021	26	208	0.1250	-39	c.578 others(56): Show c.578+1201_579-1192delTGTAGGCATTAGTGGTGATGGCCCCTGA CCTGAACTGAC	PRKCH	ENSG00000027075.17	transcript	ENST00000332981.11	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
PRKCZ_chr1_2045411_2190395	2121526	GGCAGTAG others(32): Show GGCAGTAGTTAGGGTTATATCAGTAGTTAGGGCTATGGCT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00639.hp2 others(36): Show HG00099.hp1 HG00140.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp2 HG01099.hp2 HG01192.hp1 HG01255.hp1 HG01358.hp2 HG01496.hp2 HG02027.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp1 HG03239.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18943.hp1 NA18947.hp1 NA18948.hp1 NA18954.hp1 NA18964.hp2 NA18975.hp1 NA18983.hp1 NA19003.hp1 NA19055.hp1 NA19068.hp2 NA19070.hp1 NA19077.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20129.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0003t0003	a0001c0001t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0087 others(36): Show a0001c0001t0001g0066 a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0148 a0001c0002t0001g0152 a0001c0002t0001g0207 a0001c0002t0001g0210 a0001c0002t0001g0213 a0001c0002t0001g0216 a0001c0002t0001g0218 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0271 a0001c0002t0001g0284 a0001c0002t0004g0149 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0109 a0001c0003t0001g0111 a0001c0003t0001g0114 a0001c0003t0001g0127 a0001c0003t0001g0139 a0001c0003t0001g0266 a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 a0001c0003t0003g0190 a0001c0003t0003g0191	39	286	0.1364	-39	c.335 others(58): Show c.335-13734_335-13696delCAGTAGTTAGGGTTATATCAGTAGTT AGGGCTATGGCTG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKG1_chr10_51069487_52303350	51701702	AGTTGAAT others(32): Show AGTTGAATATGTGTGTAATTGTGTGTGTATTAAATGTAGT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp1 HG02109.hp1 others(8): Show HG01099.hp1 HG01192.hp1 HG02109.hp1 HG02818.hp2 HG02965.hp2 HG02976.hp1 HG03130.hp2 HG03834.hp2 NA19043.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0013 a0001c0002t0006 a0001c0006t0007	a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0062 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0062 a0001c0001t0003g0023 a0001c0001t0004g0028 a0001c0001t0005g0061 a0001c0001t0006g0011 a0001c0001t0008g0004 a0001c0001t0013g0012 a0001c0002t0006g0013 a0001c0006t0007g0050	11	64	0.1719	-39	c.593 others(60): Show c.593-102882_593-102844delGTTGAATATGTGTGTAATTGTGTG TGTATTAAATGTAGT	PRKG1	ENSG00000185532.20	transcript	ENST00000373980.11	protein_coding	3/17			chr10	TogoVar
PRKN_chr6_161342417_162732766	161874173	TATATATT others(32): Show TATATATTATATATAATATATAATATATATTATATGTAAA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	32	0.0313	-39	c.735 others(58): Show c.735-88304_735-88266delTTTACATATAATATATATTATATATT ATATATAATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRPF4_chr9_113270658_113297905	113285343	ATTTTTTT others(32): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01257.hp2 HG01346.hp2 others(8): Show HG01099.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01943.hp1 HG01975.hp1 HG01993.hp1 HG02300.hp2 HG02818.hp2 HG03130.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0016 a0001c0002t0017 a0001c0001t0001 a0001c0002t0016 a0001c0002t0017	a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0001t0001g0113 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0002t0016g0218 a0001c0002t0017g0219	11	426	0.0258	-39	c.750 others(54): Show c.750-874_750-836delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	PRPF4	ENSG00000136875.13	transcript	ENST00000374198.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRR13_chr12_53436734_53451638	53450185	GGTGCCAT others(32): Show GGTGCCATCATAACTCACTGCAGCCTTGAATTCCTCGGCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	388	0.0026	-39	c.41 others(50): Show c.4127_*4165delGTGCCATCATAACTCACTGCAGCCTTGAATTCCT CGGCT	PRR13	ENSG00000205352.11	transcript	ENST00000429243.7	protein_coding		3548		chr12	TogoVar
PRRG3_chrX_151690458_151710924	151703879	TTTTTTTT others(32): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTGTG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0014 a0001c0001t0054g0014	1	336	0.0030	-39	c.28 others(50): Show c.2848_*2886delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG TGTGT	PRRG3	ENSG00000130032.17	transcript	ENST00000674457.1	protein_coding	4/4	2848	INFO_REALIGN_3_PRIME	chrX	TogoVar
PRSS12_chr4_118275038_118358003	118299746	TAAATAAA others(32): Show TAAATAAAATAAATAAAATTAAATAAAATAAAATAAAATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0056	1	364	0.0028	-39	c.163 others(56): Show c.1632-847_1632-809delTATTTTATTTTATTTTATTTAATTTTAT TTATTTTATTT	PRSS12	ENSG00000164099.3	transcript	ENST00000296498.3	protein_coding	8/12			chr4	TogoVar
PRSS57_chr19_680546_700452	689150	AGAAGGGT others(32): Show AGAAGGGTGGTCCAGGGGTTAGCAGGTGACGACGGGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0122 a0001c0002t0001g0122	1	442	0.0023	-39	c.379 others(56): Show c.379-2001_379-1963delCAGCCCCGTCGTCACCTGCTAACCCCTG GACCACCCTTC	PRSS57	ENSG00000185198.12	transcript	ENST00000329267.9	protein_coding	3/4			chr19	TogoVar
PSD3_chr8_18522303_19018703	18752526	ATAATTAT others(32): Show ATAATTATATATTATATATATTATATATAATTATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0171 a0001c0001t0055g0171	1	228	0.0044	-39	c.217 others(60): Show c.2172+12884_2172+12922delATATATATAATTATATATAATATA TATAATATATAATTA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	9/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18865258	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0020 a0002c0011t0020	a0002c0011t0020g0002 a0002c0011t0020g0002	1	228	0.0044	-39	c.163 others(58): Show c.1634+2377_1634+2415delAAAAAAAAAAATATATATATATATAT ATATATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	4/15			chr8	TogoVar
PTBP3_chr9_112213435_112338619	112231960	AAGAGAAG others(32): Show AAGAGAAGAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18969.hp1 NA19067.hp1 others(1): Show NA18954.hp1 NA18969.hp1 NA19067.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0262 a0001c0001t0003g0264 others(1): Show a0001c0001t0003g0156 a0001c0001t0003g0262 a0001c0001t0003g0264 a0001c0001t0003g0269	4	342	0.0117	-39	c.102 others(56): Show c.1020+100_1020+138delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CTCTCTTCTCT	PTBP3	ENSG00000119314.16	transcript	ENST00000374257.6	protein_coding	9/13			chr9	TogoVar
PTCHD1_chrX_23329849_23409374	23342278	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA21309.hp2 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0126 a0001c0001t0040 a0001c0001t0126	a0001c0001t0040g0279 a0001c0001t0126g0243 a0001c0001t0040g0279 a0001c0001t0126g0243	2	297	0.0067	-39	c.351 others(56): Show c.351+7054_351+7092delATATATATATATATATATATATATATAT ATATTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342280	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00733.hp1 others(8): Show HG00280.hp1 HG00438.hp1 HG00733.hp1 HG01257.hp1 HG01258.hp1 HG02602.hp1 HG03540.hp2 HG03654.hp1 HG03704.hp1 HG03927.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0049 others(7): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0049 a0001c0001t0116 a0001c0001t0155 a0001c0002t0009 a0001c0002t0019 a0001c0002t0030 a0001c0002t0113 a0001c0002t0135	a0001c0001t0002g0288 a0001c0001t0005g0101 a0001c0001t0049g0267 others(8): Show a0001c0001t0002g0288 a0001c0001t0005g0101 a0001c0001t0049g0267 a0001c0001t0116g0266 a0001c0001t0155g0112 a0001c0002t0009g0283 a0001c0002t0009g0284 a0001c0002t0019g0287 a0001c0002t0030g0285 a0001c0002t0113g0192 a0001c0002t0135g0286	11	297	0.0370	-39	c.351 others(56): Show c.351+7056_351+7094delATATATATATATATATATATATATATAT ATTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342282	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02004.hp2 HG02015.hp1 others(8): Show HG01884.hp2 HG02004.hp2 HG02015.hp1 HG02109.hp2 HG02572.hp1 HG02615.hp2 HG03516.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0026 a0001c0001t0169 a0001c0001t0175 others(8): Show a0001c0001t0026 a0001c0001t0169 a0001c0001t0175 a0001c0001t0179 a0001c0002t0006 a0001c0002t0007 a0001c0002t0016 a0001c0002t0028 a0001c0003t0008 a0001c0003t0010 a0001c0003t0172	a0001c0001t0026g0119 a0001c0001t0169g0117 a0001c0001t0175g0118 others(8): Show a0001c0001t0026g0119 a0001c0001t0169g0117 a0001c0001t0175g0118 a0001c0001t0179g0281 a0001c0002t0006g0098 a0001c0002t0007g0100 a0001c0002t0016g0099 a0001c0002t0028g0282 a0001c0003t0008g0278 a0001c0003t0010g0277 a0001c0003t0172g0276	11	297	0.0370	-39	c.351 others(56): Show c.351+7058_351+7096delATATATATATATATATATATATATATAT TTTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
PTCHD1_chrX_23329849_23409374	23342284	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01243.hp1 others(97): Show HG00621.hp1 HG01109.hp1 HG01243.hp1 HG01261.hp1 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02109.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04199.hp1 NA18747.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp1 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(72): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0032 a0001c0001t0034 a0001c0001t0052 a0001c0001t0053 a0001c0001t0061 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0077 a0001c0001t0085 a0001c0001t0090 a0001c0001t0091 a0001c0001t0101 a0001c0001t0103 a0001c0001t0107 a0001c0001t0109 a0001c0001t0111 a0001c0001t0114 a0001c0001t0118 a0001c0001t0122 a0001c0001t0131 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0141 a0001c0001t0146 a0001c0001t0148 a0001c0001t0158 a0001c0001t0165 a0001c0001t0177 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0012 a0001c0002t0016 a0001c0002t0017 a0001c0002t0019 a0001c0002t0023 a0001c0002t0025 a0001c0002t0028 a0001c0002t0051 a0001c0002t0062 a0001c0002t0079 a0001c0002t0080 a0001c0002t0087 a0001c0002t0089 a0001c0002t0092 a0001c0002t0095 a0001c0002t0097 a0001c0002t0120 a0001c0002t0121 a0001c0002t0125 a0001c0002t0133 a0001c0002t0171 a0001c0003t0033 a0001c0005t0070 a0001c0005t0075 a0001c0006t0014	a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0002g0006 others(96): Show a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0002g0006 a0001c0001t0002g0032 a0001c0001t0002g0055 a0001c0001t0002g0068 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0089 a0001c0001t0007g0059 a0001c0001t0011g0070 a0001c0001t0011g0087 a0001c0001t0012g0086 a0001c0001t0013g0084 a0001c0001t0013g0093 a0001c0001t0013g0094 a0001c0001t0013g0095 a0001c0001t0014g0039 a0001c0001t0014g0054 a0001c0001t0021g0028 a0001c0001t0022g0005 a0001c0001t0022g0022 a0001c0001t0024g0066 a0001c0001t0032g0110 a0001c0001t0034g0105 a0001c0001t0034g0111 a0001c0001t0052g0041 a0001c0001t0053g0096 a0001c0001t0061g0034 a0001c0001t0066g0080 a0001c0001t0068g0031 a0001c0001t0069g0083 a0001c0001t0072g0077 a0001c0001t0077g0078 a0001c0001t0085g0030 a0001c0001t0090g0108 a0001c0001t0091g0064 a0001c0001t0101g0116 a0001c0001t0103g0115 a0001c0001t0107g0114 a0001c0001t0109g0271 a0001c0001t0111g0072 a0001c0001t0114g0106 a0001c0001t0118g0109 a0001c0001t0122g0007 a0001c0001t0131g0196 a0001c0001t0134g0121 a0001c0001t0136g0091 a0001c0001t0137g0045 a0001c0001t0141g0035 a0001c0001t0146g0043 a0001c0001t0148g0042 a0001c0001t0158g0104 a0001c0001t0165g0107 a0001c0001t0177g0197 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0044 a0001c0002t0002g0079 a0001c0002t0002g0090 a0001c0002t0003g0052 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0004g0063 a0001c0002t0004g0074 a0001c0002t0005g0029 a0001c0002t0005g0065 a0001c0002t0007g0062 a0001c0002t0008g0040 a0001c0002t0008g0051 a0001c0002t0009g0002 a0001c0002t0012g0046 a0001c0002t0016g0057 a0001c0002t0016g0058 a0001c0002t0017g0092 a0001c0002t0019g0120 a0001c0002t0023g0033 a0001c0002t0023g0050 a0001c0002t0025g0193 a0001c0002t0028g0122 a0001c0002t0051g0047 a0001c0002t0062g0075 a0001c0002t0079g0085 a0001c0002t0080g0071 a0001c0002t0087g0014 a0001c0002t0089g0073 a0001c0002t0092g0049 a0001c0002t0095g0097 a0001c0002t0097g0048 a0001c0002t0120g0012 a0001c0002t0121g0082 a0001c0002t0125g0292 a0001c0002t0133g0088 a0001c0002t0171g0081 a0001c0003t0033g0275 a0001c0005t0070g0069 a0001c0005t0075g0076 a0001c0006t0014g0067	100	297	0.3367	-39	c.351 others(56): Show c.351+7060_351+7098delATATATATATATATATATATATATATTT TTTTTTTTTTT	PTCHD1	ENSG00000165186.12	transcript	ENST00000379361.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar

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