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
PCGF3_chr4_700832_775089	759609	T T	TTCCGGAC others(99): Show TTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTC TTCTCGC	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18612.hp1 HG02523.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0272 a0001c0001t0003g0053 a0001c0001t0003g0272	2	366	0.0055	106	c.463 others(123): Show c.463-1574_463-1573insCTCTTCTCGCTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759662	T T	TTCCGGAC others(99): Show TTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGTTCTTC TCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTC TTCTCGC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0128 a0001c0003t0010g0128	1	366	0.0027	106	c.463 others(123): Show c.463-1593_463-1592insTCGCGGCCCCTCTCCCGAGTTCTTCTCC TTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTCTTC TCGCTCCGGACTCCGGGTCTTTCTCCCC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCMT1_chr6_149744741_149816419	149786239	G G	GGGACGGG others(99): Show GGGACGGGGCGGCTGGCCGGGCGGGTGTGCTGACCCCCCCCACCTCCCTC CCGGACGGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCT CCCTCCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	334	0.0030	106	c.193 others(123): Show c.193-3711_193-3710insGGGGCGGCTGGCCGGGCGGGTGTGCTGA CCCCCCCCACCTCCCTCCCGGACGGGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCGGAC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE9A_chr21_42648621_42780509	42769688	A A	ACACATAC others(99): Show ACACATACACACATGCACACAGGTACACACAGGCACACACTCGTGCACAC GTACACAGGCATACAAATGCACACGCAGGCACACACAGGTACGTAGGCAC ACACAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02559.hp2 HG02976.hp2 others(2): Show HG01261.hp2 HG02559.hp2 HG02976.hp2 HG03491.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0002g0128 others(2): Show a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0002g0128 a0001c0002t0002g0302 a0001c0002t0003g0028	5	324	0.0154	106	c.159 others(123): Show c.1590+560_1590+561insACAGGCACACACTCGTGCACACGTACAC AGGCATACAAATGCACACGCAGGCACACACAGGTACGTAGGCACACACAA GCACATACACACATGCACACAGGTACAC	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDE9A_chr21_42648621_42780509	42769691	C C	CACGCACA others(99): Show CACGCACACCGGTACACACAGGCACACACTCGTGCACACGTACACAGGCA TACAAATGCACACGCAGGCACACACAGGTACGTAGGCACACACAAGCACA TACACAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03471.hp2 NA19030.hp2 HG02886.hp2 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0005 a0001c0005t0001 a0001c0005t0005	a0001c0005t0001g0169 a0001c0005t0001g0268 a0001c0005t0005g0236 a0001c0005t0001g0169 a0001c0005t0001g0268 a0001c0005t0005g0236	3	324	0.0093	106	c.159 others(123): Show c.1590+537_1590+538insCGCACACCGGTACACACAGGCACACACT CGTGCACACGTACACAGGCATACAAATGCACACGCAGGCACACACAGGTA CGTAGGCACACACAAGCACATACACATA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDSS2_chr6_107147562_107464564	107402455	T T	TATATATA others(99): Show TATATATACGTATATATATGTATACATATATATACGTATATATATGTATA CATATATATACGTATATATGTATACATATATATACGTATATGTATATATA TGTATAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0013 a0001c0001t0008g0013	1	260	0.0039	106	c.296 others(125): Show c.296+56534_296+56535insGTATACATATATATACATATACGTAT ATATATGTATACATATATACGTATATATATGTATACATATATATACGTAT ATATATGTATACATATATATACGTATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDSS2_chr6_107147562_107464564	107402466	A A	ATATATAT others(99): Show ATATATATGTATACATATATATACTTATATATATGTATACATATATATAC GTATATATATGTATACATATATACGTATATATATGTATATATGTATACGT ATATACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	260	0.0039	106	c.296 others(125): Show c.296+56523_296+56524insCGTATATACGTATACATATATACATA TATATACGTATATATGTATACATATATATACGTATATATATGTATACATA TATATAAGTATATATATGTATACATATATA	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(99): Show GGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGGCTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0215 a0001c0001t0006g0215	1	358	0.0028	106	c.143 others(121): Show c.143-508_143-507insGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741372	C C	CAGGGGGG others(99): Show CAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTGGCAG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCAGGGGGGCTCGCGGGGG GCTCGCG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0062 a0001c0002t0003g0062	1	358	0.0028	106	c.143 others(121): Show c.143-295_143-294insAGGGGGGCTGGCAGGGGGGCTCGCGGGGGG CTCGCAGGGGGGCTGGCAGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTC GCAGGGGGGCTCGCGGGGGGCTCGCG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10			chr21	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(99): Show TTCTCTCTCTCTCTCTCTCCCTCCCTCTCTCCCTCTCTCTCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCT CTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	426	0.0024	106	c.48 others(117): Show c.4863_*4864insGAGAGAGAGAGGGAGAGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGAGAGGGAGAGAGG GAGGGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(99): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT CTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 NA19074.hp1 HG01975.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0100 a0001c0001t0001g0006 a0001c0001t0001g0100	2	426	0.0047	106	c.48 others(117): Show c.4863_*4864insGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGG GGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(99): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT CTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01109.hp1 HG01358.hp1 others(4): Show HG00099.hp1 HG01109.hp1 HG01358.hp1 HG01515.hp1 HG02698.hp2 HG03710.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0087 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0087 a0001c0002t0001g0007	7	426	0.0164	106	c.48 others(117): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PEBP1_chr12_118131124_118150584	118133225	T T	TCATTTCA others(99): Show TCATTTCATTTCATTTCATTTCATTTCATTATTTCATTTCATTTCATTTC ATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTC AATTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	426	0.0024	106	c.-29 others(117): Show c.-2985_-2984insCATTTCATTTCATTTCATTTCATTTCATTATTTC ATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTC ATTTCATTTCATTTCAATTTCA	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2898		chr12	TogoVar
PGAM5_chr12_132705842_132727734	132718545	T T	TGTCCTGG others(99): Show TGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGGTGTCC TGGGTGGGGTGCGTGCTGGGTGGGGGTGTCCTGGGTGGGGTGCGTGCTGG GTGGGGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	394	0.0025	106	c.719 others(121): Show c.719+468_719+469insGTGTCCTGGGTGGGGTGCGTGCTGGGTGGG GGTGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGGTCCTGGGTGGGGTGCG TGCTGGGTGGGGGGTCCTGGGTGGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGC_chr6_41731711_41752397	41738132	G G	GCATATAT others(99): Show GCATATATATATACATATATATATACATATATATATGCATATATATATGC ATATATATATGCATATATATATGCATATATATATACATATATATGCATAT ATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	464	0.0022	106	c.916 others(121): Show c.916-305_916-304insTATATATATATGCATATATATGTATATATA TATGCATATATATATGCATATATATATGCATATATATATGCATATATATA TGTATATATATATGTATATATATATG	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PGM5_chr9_68351611_68536061	68502328	C C	CAAAAGGG others(99): Show CAAAAGGGTTTAAAATCACAGGTAACCAGAAACAGCACAATTGTTTCCGT TTTCTTTCCCATCCAATTTATTAGCAGGGCTGCTATTATTAGCTTCTCGT TGACCTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0001 a0003c0013t0001	a0003c0013t0001g0151 a0003c0013t0001g0151	1	246	0.0041	106	c.161 others(125): Show c.1614+3001_1614+3002insCACAATTGTTTCCGTTTTCTTTCCCA TCCAATTTATTAGCAGGGCTGCTATTATTAGCTTCTCGTTGACCTTAAAA GGGTTTAAAATCACAGGTAACCAGAAACAG	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PIGH_chr14_67584318_67605268	67590331	C C	CAACCTCC others(99): Show CAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAG TAGCTGGGATTACAGGTGCTCGCCACCACGCCCAGTGGCACAATCTCGGC TCACTGA	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA19067.hp2 NA19068.hp1 others(1): Show NA18984.hp2 NA19067.hp2 NA19068.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0042 a0001c0001t0002g0043	4	462	0.0087	106	c.475 others(121): Show c.475-265_475-160dupTCAGTGAGCCGAGATTGTGCCACTGGGCGT GGTGGCGAGCACCTGTAATCCCAGCTACTCGGGAGGCTGAAGCAGGAGAA TCACTTGAACCTGGGAGGCGGAGGTT	PIGH	ENSG00000100564.9	transcript	ENST00000216452.9	protein_coding	3/3			chr14	TogoVar
PIK3C2A_chr11_17081575_17212986	17193866	A A	AGAGGAGG others(99): Show AGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAG	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA19077.hp1 HG00438.hp2 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0022 a0001c0003t0004 a0001c0003t0022	a0001c0003t0004g0053 a0001c0003t0022g0052 a0001c0003t0004g0053 a0001c0003t0022g0052	2	342	0.0059	106	c.-66 others(125): Show c.-66+13981_-66+13982insCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCTC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(99): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18957.hp1 NA18994.hp2 others(1): Show HG02647.hp1 NA18957.hp1 NA18994.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0004 a0001c0001t0003 a0001c0003t0004	a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0003t0004g0030 others(1): Show a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0003t0004g0030 a0001c0003t0004g0034	4	342	0.0117	106	c.-66 others(125): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIK3R1_chr5_68210756_68306821	68262870	T T	TATATACA others(99): Show TATATACATGTAGATACATGTAGATACATGTATACATATATACATGTAGA TACATGTAGATACATGTATACATATATACATGTAGATACATGTAGATACA TGTATAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0051 a0001c0010t0051	a0001c0010t0051g0215 a0001c0010t0051g0215	1	308	0.0033	106	c.335 others(125): Show c.335-10520_335-10519insATATACATGTAGATACATGTAGATAC ATGTATACATATATACATGTAGATACATGTAGATACATGTATACATATAT ACATGTAGATACATGTAGATACATGTATAC	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTCT others(99): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT TTCTTTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0084 a0001c0001t0002g0084	1	218	0.0046	106	c.49- others(123): Show c.49-38616_49-38615insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6560582	A A	AAGACGGA others(99): Show AAGACGGAAGAAGGGCGCGGACGGACAAGAGGAAGAGGTGGAAAGAAACG AAGAAGAAGCAAGAAGAAGCAGGCAAGAAGACGAGCTGGTGACGACAGGA GTGGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0106 a0004c0013t0002g0106	1	218	0.0046	106	c.-41 others(117): Show c.-4177_-4176insGCGCCACTCCTGTCGTCACCAGCTCGTCTTCTTG CCTGCTTCTTCTTGCTTCTTCTTCGTTTCTTTCCACCTCTTCCTCTTGTC CGTCCGCGCCCTTCTTCCGTCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4028		chr17	TogoVar
PLD5_chr1_242077986_242529697	242394989	A A	ATATATAT others(99): Show ATATATATGATTATATATGAATATATATGAATATATATGATTATATATAT GAATATATATGAATATATATGTATATATGAATATATGAATATATATGAAT ATATATG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp1 HG02809.hp2 others(2): Show HG01433.hp1 HG01981.hp1 HG02809.hp2 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0011 others(2): Show a0001c0001t0001 a0001c0001t0018 a0001c0002t0011 a0001c0002t0023 a0001c0002t0077	a0001c0001t0001g0069 a0001c0001t0018g0050 a0001c0002t0011g0157 others(2): Show a0001c0001t0001g0069 a0001c0001t0018g0050 a0001c0002t0011g0157 a0001c0002t0023g0155 a0001c0002t0077g0160	5	188	0.0266	106	c.190 others(125): Show c.190-46748_190-46747insCATATATATTCATATATATTCATATA TTCATATATACATATATATTCATATATATTCATATATATAATCATATATA TTCATATATATTCATATATAATCATATATA	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	97312	A A	AAAGTCCA others(99): Show AAAGTCCAAACCCCTTACCTGTCATTCAGGCTCCAGATGATTTTCCTCAT TCCAAAGTCAAAACCCCTTACCTGTCATTCAGGCTCCAGATCGTTTTCCT CATTCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(38): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG01081.hp2 HG01099.hp1 HG01261.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18984.hp1 NA19012.hp1 NA19043.hp2	a0001 a0006 a0008 others(17): Show a0001 a0006 a0008 a0010 a0011 a0013 a0014 a0015 a0018 a0019 a0020 a0021 a0022 a0035 a0036 a0037 a0038 a0039 a0040 a0041	a0001c0011 a0006c0021 a0006c0068 others(29): Show a0001c0011 a0006c0021 a0006c0068 a0006c0070 a0006c0071 a0006c0072 a0006c0073 a0008c0024 a0008c0025 a0008c0079 a0010c0014 a0010c0069 a0011c0023 a0011c0078 a0013c0020 a0013c0067 a0014c0027 a0014c0066 a0015c0076 a0015c0077 a0018c0022 a0019c0019 a0020c0081 a0021c0026 a0022c0046 a0035c0060 a0036c0075 a0037c0074 a0038c0080 a0039c0062 a0040c0063 a0041c0064	a0001c0011t0048 a0006c0021t0018 a0006c0021t0056 others(36): Show a0001c0011t0048 a0006c0021t0018 a0006c0021t0056 a0006c0068t0058 a0006c0070t0054 a0006c0071t0018 a0006c0072t0036 a0006c0073t0020 a0008c0024t0021 a0008c0025t0045 a0008c0025t0069 a0008c0079t0068 a0010c0014t0019 a0010c0014t0055 a0010c0014t0057 a0010c0069t0019 a0011c0023t0041 a0011c0023t0044 a0011c0078t0059 a0013c0020t0050 a0013c0020t0052 a0013c0067t0046 a0014c0027t0049 a0014c0066t0051 a0015c0076t0067 a0015c0077t0053 a0018c0022t0011 a0019c0019t0010 a0019c0019t0062 a0020c0081t0064 a0021c0026t0060 a0022c0046t0047 a0035c0060t0020 a0036c0075t0061 a0037c0074t0037 a0038c0080t0043 a0039c0062t0010 a0040c0063t0063 a0041c0064t0010	a0001c0011t0048g0179 a0006c0021t0018g0198 a0006c0021t0056g0199 others(38): Show a0001c0011t0048g0179 a0006c0021t0018g0198 a0006c0021t0056g0199 a0006c0068t0058g0194 a0006c0070t0054g0207 a0006c0071t0018g0202 a0006c0072t0036g0206 a0006c0073t0020g0193 a0008c0024t0021g0175 a0008c0024t0021g0176 a0008c0025t0045g0172 a0008c0025t0069g0174 a0008c0079t0068g0173 a0010c0014t0019g0205 a0010c0014t0055g0201 a0010c0014t0057g0197 a0010c0069t0019g0204 a0011c0023t0041g0184 a0011c0023t0044g0187 a0011c0078t0059g0185 a0013c0020t0050g0182 a0013c0020t0052g0183 a0013c0067t0046g0186 a0014c0027t0049g0171 a0014c0066t0051g0170 a0015c0076t0067g0192 a0015c0077t0053g0181 a0018c0022t0011g0195 a0018c0022t0011g0196 a0019c0019t0010g0164 a0019c0019t0062g0191 a0020c0081t0064g0200 a0021c0026t0060g0169 a0022c0046t0047g0180 a0035c0060t0020g0188 a0036c0075t0061g0178 a0037c0074t0037g0203 a0038c0080t0043g0177 a0039c0062t0010g0165 a0040c0063t0063g0189 a0041c0064t0010g0190	41	210	0.1952	106	c.45+ others(121): Show c.45+5041_45+5042insCAAACCCCTTACCTGTCATTCAGGCTCCAG ATGATTTTCCTCATTCCAAAGTCAAAACCCCTTACCTGTCATTCAGGCTC CAGATCGTTTTCCTCATTCCGAAGTC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	97312	A A	AAAGTCCA others(99): Show AAAGTCCAAACCCCTTACCTGTCATTCAGGCTCCAGATGATTTTCCTCAT TCCAGAGTCAAAACCCCTTACCTGTCATTCAGGCTCCAGATCGTTTTCCT CATTCCG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0038 a0014c0065t0038	a0014c0065t0038g0166 a0014c0065t0038g0166	1	210	0.0048	106	c.45+ others(121): Show c.45+5041_45+5042insCAAACCCCTTACCTGTCATTCAGGCTCCAG ATGATTTTCCTCATTCCAGAGTCAAAACCCCTTACCTGTCATTCAGGCTC CAGATCGTTTTCCTCATTCCGAAGTC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	100531	A A	AAATCCAT others(99): Show AAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp2 HG02622.hp2 HG02809.hp2	a0017 a0032 a0017 a0032	a0017c0030 a0032c0058 a0017c0030 a0032c0058	a0017c0030t0039 a0032c0058t0040 a0017c0030t0039 a0032c0058t0040	a0017c0030t0039g0140 a0032c0058t0040g0158 a0017c0030t0039g0140 a0032c0058t0040g0158	2	210	0.0095	106	c.45+ others(121): Show c.45+8434_45+8539dupAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101008	A A	AAATCCAT others(99): Show AAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0003 a0003	a0003c0044 a0003c0044	a0003c0044t0001 a0003c0044t0001	a0003c0044t0001g0116 a0003c0044t0001g0116	1	210	0.0048	106	c.45+ others(121): Show c.45+8761_45+8866dupGTAGGGGAGAGACTGTTGTGAGGTTAATCC ATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCCCTGGAAAAAGTCT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101087	T T	TCTGTAGG others(99): Show TCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGGAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTCTGG AAAAAGC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0036 a0036	a0036c0075 a0036c0075	a0036c0075t0061 a0036c0075t0061	a0036c0075t0061g0178 a0036c0075t0061g0178	1	210	0.0048	106	c.45+ others(121): Show c.45+8857_45+8858insGAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTTAATCCATATAAAGCCCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101286	C C	CCTGGAAA others(99): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATA TAAAGCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02622.hp1 HG01099.hp1 HG02622.hp1	a0011 a0011	a0011c0023 a0011c0078 a0011c0023 a0011c0078	a0011c0023t0041 a0011c0078t0059 a0011c0023t0041 a0011c0078t0059	a0011c0023t0041g0184 a0011c0078t0059g0185 a0011c0023t0041g0184 a0011c0078t0059g0185	2	210	0.0095	106	c.45+ others(121): Show c.45+9014_45+9015insAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTAAATCCATATAAAGCTCTGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101297	C C	CCTGTAGG others(99): Show CCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAA AAGCCTGTAGGGGAGAGACTGTTGTGAGGTAAATCCATATAAAGCTCTGG AGAAAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0044 a0011c0023t0044	a0011c0023t0044g0187 a0011c0023t0044g0187	1	210	0.0048	106	c.45+ others(121): Show c.45+9100_45+9101insAAATCCATATAAAGCTCTGGAGAAAGTCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101339	C C	CCTGGAAA others(99): Show CCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAA AGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATA TAAAGCT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0008 a0008	a0008c0025 a0008c0025	a0008c0025t0069 a0008c0025t0069	a0008c0025t0069g0174 a0008c0025t0069g0174	1	210	0.0048	106	c.45+ others(121): Show c.45+9153_45+9154insTAATCCATATAAAGCTCTGGAAAAAGCCTG TAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101450	G G	GAAAAGCC others(99): Show GAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCTC TGGAAAAAGTCTGTACGGGAGAGACTGTTGTGAGGTTAATCCATATAAAG CCCTGGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0060 a0035c0060	a0035c0060t0020 a0035c0060t0020	a0035c0060t0020g0188 a0035c0060t0020g0188	1	210	0.0048	106	c.45+ others(121): Show c.45+9206_45+9207insTAATCCATATAAAGCTCTGGAAAAAGTCTG TACGGGAGAGACTGTTGTGAGGTTAATCCATATAAAGCCCTGGAAAAAGC CTGTAGGGGAGAGACTGTTGTGAGGT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101854	T T	TAATCCAT others(99): Show TAATCCATATAAAGCCCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTG TGAGGTA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0021 a0021	a0021c0026 a0021c0026	a0021c0026t0060 a0021c0026t0060	a0021c0026t0060g0169 a0021c0026t0060g0169	1	210	0.0048	106	c.45+ others(121): Show c.45+9603_45+9604insCCTGTAGGGGAGAGACTGTTGTGAGGTTAA TCCATATAAAGCTCTGGAAAAAGCCTGTAGGGGAGAGACTGTTGTGAGGT AAATCCATATAAAGCCCTGGAAAAAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	101960	T T	TAATCCAT others(99): Show TAATCCATATAAAGCCCTGGAGAAAGTCTATAGGGGAGAGACTGTTGTGA GGTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTG TGAGGTA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	210	0.0048	106	c.45+ others(121): Show c.45+9705_45+9810dupGAAAGTCTATAGGGGAGAGACTGTTGTGAG GTTAATCCATATAAAGCCCTGGAAAAAGTCTGTAGGGGAGAGACTGTTGT GAGGTAAATCCATATAAAGCCCTGGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHH1_chr14_67528290_67594612	67590331	C C	CAACCTCC others(99): Show CAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAG TAGCTGGGATTACAGGTGCTCGCCACCACGCCCAGTGGCACAATCTCGGC TCACTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19068.hp1 NA19080.hp2 NA19067.hp2 NA19068.hp1 NA19080.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0004 a0004c0006t0001 a0004c0006t0004	a0004c0006t0001g0331 a0004c0006t0001g0344 a0004c0006t0004g0285 a0004c0006t0001g0331 a0004c0006t0001g0344 a0004c0006t0004g0285	3	414	0.0073	106	c.30 others(117): Show c.3096_*3097insAACCTCCGCCTCCCAGGTTCAAGTGATTCTCCTG CTTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTCGCCACCACGCCCAG TGGCACAATCTCGGCTCACTGA	PLEKHH1	ENSG00000054690.14	transcript	ENST00000329153.10	protein_coding		720		chr14	TogoVar
PLVAP_chr19_17346455_17382342	17349163	T T	TTTCTTTC others(99): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0073	1	436	0.0023	106	c.31 others(117): Show c.3198_*3199insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGAAAG AAAGAAAGAAAGAAAGAAAGAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2291		chr19	TogoVar
PLVAP_chr19_17346455_17382342	17349175	T T	TTCCTTCC others(99): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	436	0.0023	106	c.31 others(117): Show c.3186_*3187insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2279		chr19	TogoVar
PNMA5_chrX_152983824_152999116	152998621	T T	TATATATT others(99): Show TATATATTATATATTATATTATATATATAATATATATTATAAAATATATA TTATTTATATAATATATATTATATAATATATATTATTTATATAATATATA TTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	286	0.0035	106	c.-49 others(117): Show c.-4919_-4918insTATATAATATATATTATATAAATAATATATATTA TATAATATATATTATATAAATAATATATATTTTATAATATATATTATATA TATAATATAATATATAATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4506		chrX	TogoVar
POLG_chr15_89311320_89339824	89325037	A A	AGAGTGAG others(99): Show AGAGTGAGAGTGAGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGAGAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	398	0.0025	106	c.194 others(123): Show c.1949+412_1949+413insACTCTCTCACTCACTCTCTCACTCACTC ACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCACTCAC TCACTCTCTCACTCTCTCACTCTCACTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPA1_chr10_70197835_70238429	70206903	A A	AGGGGAGG others(99): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0264 a0001c0001t0003g0264	1	408	0.0025	106	c.726 others(121): Show c.726-571_726-570insCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar
PPFIA2_chr12_81252975_81764350	81642673	A A	ACGTATGT others(99): Show ACGTATGTATATATTATATACATACACGTATGTATATATTATATACATAC GTGTATGTATATATTATATACATACGTGTATGTATATATTATATACATAC ATGTACG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	168	0.0060	106	c.303 others(125): Show c.303+34117_303+34118insCGTACATGTATGTATATAATATATAC ATACACGTATGTATATAATATATACATACACGTATGTATATAATATATAC ATACGTGTATGTATATAATATATACATACG	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP1R16B_chr20_38800697_38928024	38895974	C C	CCCTCCCT others(99): Show CCCTCCCTCCTTTCTTCTTTCTTCCCTCCCTCCCTCCTTCCTTCTTTCTC TCCTCCCTTCCCCCCTTCCTTCTTTCTTTCCTCTCTTCCTTCTTTCTTTT CTCCCTT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0161 a0001c0001t0011g0161	1	244	0.0041	106	c.467 others(121): Show c.467+275_467+276insTCTTCTTTCTTCCCTCCCTCCCTCCTTCCT TCTTTCTCTCCTCCCTTCCCCCCTTCCTTCTTTCTTTCCTCTCTTCCTTC TTTCTTTTCTCCCTTCCTCCCTCCTT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PPP1R16B_chr20_38800697_38928024	38896155	C C	CCTCACTT others(99): Show CCTCACTTCCCCCCTTCCTTCTTTCTTTCCTCTCTTCCTTCTTTCTTTTC TCCCTTCCTCCCTTCCTTTCTTCCCTCCCTTCCTCCCTTTCTCCCTTTCT TCTGTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0089 a0001c0002t0002g0089	1	244	0.0041	106	c.467 others(121): Show c.467+445_467+446insCTCACTTCCCCCCTTCCTTCTTTCTTTCCT CTCTTCCTTCTTTCTTTTCTCCCTTCCTCCCTTCCTTTCTTCCCTCCCTT CCTCCCTTTCTCCCTTTCTTCTGTCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10			chr20	TogoVar
PPP2R2D_chr10_131896008_131964834	131917408	G G	GACAGTGT others(99): Show GACAGTGTTTGTAGGGACCTCAGTCGGGTGGAATGACAGTGTTTGTAGGG ACCTCACACGGATGGAATGACACAGTGTTTGTAGGGACCTCAGGCGGGTG GAATGAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03098.hp1 HG01192.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0039 a0001c0001t0026g0190 a0001c0001t0026g0039 a0001c0001t0026g0190	2	394	0.0051	106	c.100 others(125): Show c.100+16133_100+16134insCACGGATGGAATGACACAGTGTTTGT AGGGACCTCAGGCGGGTGGAATGACACAGTGTTTGTAGGGACCTCAGTCG GGTGGAATGACAGTGTTTGTAGGGACCTCA	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPP3CA_chr4_101018418_101352526	101106453	G G	GAAAGAAA others(99): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	192	0.0052	106	c.384 others(123): Show c.384+2500_384+2501insTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTT	PPP3CA	ENSG00000138814.17	transcript	ENST00000394854.8	protein_coding	3/13			chr4	TogoVar
PPP4R2_chr3_72991811_73074198	73018452	T T	TGTTATGT others(99): Show TGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTATGTTATGTTTAT GTTATGTTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTA TGTTATG	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0147 a0001c0001t0054g0147	1	360	0.0028	106	c.116 others(125): Show c.116+20294_116+20295insGTTATGTTATGTTTGTTATGTTATGT TATGTTATTTATGTTATGTTTATGTTATGTTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATG	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(99): Show GTATATGTACGTGTATATATATACGTATATATATACACGTATATGTACGT GTATATATATACGTATATATATACGCGTATATATATACGTATATATATAC GCGTGTA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02280.hp1 HG02559.hp2 others(3): Show HG01934.hp1 HG02280.hp1 HG02559.hp2 HG02723.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	6	273	0.0220	106	c.313 others(123): Show c.313-1760_313-1759insTACACGCGTATATATATACGTATATATA TACGCGTATATATATACGTATATATATACACGTACATATACGTGTATATA TATACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRICKLE3_chrX_49169802_49191373	49181565	G G	GTATATGT others(99): Show GTATATGTACGTGTATATATATACGTATATATATATACGTATATGTACGT GTATATATATACGTATATATATACGCGTATATATATACGTATATATATAC GCGTGTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0123	1	273	0.0037	106	c.313 others(123): Show c.313-1760_313-1759insTACACGCGTATATATATACGTATATATA TACGCGTATATATATACGTATATATATACACGTACATATACGTATATATA TATACGTATATATATACACGTACATATA	PRICKLE3	ENSG00000012211.13	transcript	ENST00000599218.6	protein_coding	3/8			chrX	TogoVar
PRIM2_chr6_57312630_57651850	57470391	G G	GCCTCTCC others(99): Show GCCTCTCCCCCTCTCCCCTCTCCCCTCTCTCCCCTCTCCCCCTCTCCCCT CTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCC CCTCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0202 a0001c0001t0002g0202	1	300	0.0033	106	c.694 others(125): Show c.694-36972_694-36971insTCTCTCCCCTCTCCCCCTCTCCCCTC TCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCC CTCTCCCCTCTCCCCCTCTCCCCTCTCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRIM2_chr6_57312630_57651850	57470413	C C	CCCCTCTC others(99): Show CCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	300	0.0033	106	c.694 others(125): Show c.694-36927_694-36926insCTCTCCCCCTCTCCCCCTCTCCCCTC TCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCTCCCTCTCCCCTCTCCCC CTCTCCCCTCTCCCCCTCTCCCCTCTCCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar

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