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
PDE6B_chr4_620573_675782	669240	C C	CTATTCCC others(103): Show CTATTCCCGCTACCCCATGCTATTCCCCTACCCCCATGCTATTCCCCTAC CCCATGCTATTCCCACTACCCCATGCTATTCCCACTACGCCATGCTATTC CCGCTACCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	308	0.0033	110	c.250 others(127): Show c.2504-805_2504-804insATTCCCGCTACCCCATGCTATTCCCCTA CCCCCATGCTATTCCCCTACCCCATGCTATTCCCACTACCCCATGCTATT CCCACTACGCCATGCTATTCCCGCTACCCCAT	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFD_chr11_103902189_104169147	104119003	A A	ATAATATA others(103): Show ATAATATAATATATCGATATATTATATTAACATATTATATAATATATCGA TATATTATATTAATATAATATATTAATATAATATAATATATCGATATATT ATATAATATGT	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp1 HG01081.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0127 a0001c0002t0001g0126 a0001c0001t0002g0127 a0001c0002t0001g0126	2	200	0.0100	110	c.124 others(129): Show c.124+44800_124+44801insACATATTATATAATATATCGATATAT TATATTATATTAATATATTATATTAATATAATATATCGATATATTATATA ATATGTTAATATAATATATCGATATATTATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDGFD_chr11_103902189_104169147	104119003	A A	ATAATATA others(103): Show ATAATATAATATATCGATATATTATATTAATATATTATATAATATATCGA TATATTATATTAATATAATATATTAATATAATATAATATATCGATATATT ATATAATATGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG02630.hp1 others(3): Show HG00639.hp1 HG01256.hp1 HG02630.hp1 HG03209.hp2 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0004t0007	a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0002t0001g0091 others(3): Show a0001c0001t0002g0099 a0001c0001t0002g0110 a0001c0002t0001g0091 a0001c0002t0004g0096 a0001c0002t0005g0094 a0001c0004t0007g0092	6	200	0.0300	110	c.124 others(129): Show c.124+44800_124+44801insACATATTATATAATATATCGATATAT TATATTATATTAATATATTATATTAATATAATATATCGATATATTATATA ATATATTAATATAATATATCGATATATTATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDIA2_chr16_278164_292215	285937	C C	CCCCAACA others(103): Show CCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCCCGGTTCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0094 a0002c0002t0001g0094	1	436	0.0023	110	c.111 others(127): Show c.1119+240_1119+241insACCAACCCCGCGGTTCTCCCAACCCCAA CCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGT TCTCCCAACCCCAACCCCCCGGTTCTCCCAAC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDSS2_chr6_107147562_107464564	107402479	C C	CATATATA others(103): Show CATATATATACGTATATATATGTATACATATATATACGTATATATATGTA TACATATATATACGTATATATATGTATATATGTATACGTATATACGTATA TATGTATACAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	260	0.0039	110	c.296 others(129): Show c.296+56510_296+56511insATGTATACATATATACGTATATACGT ATACATATATACATATATATACGTATATATATGTATACATATATATACGT ATATATATGTATACATATATATACGTATATATAT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	1/7			chr6	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCC CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGA GAGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCT CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp1 HG00423.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0001 a0001c0001t0001g0006	2	426	0.0047	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGAGAGAGGGAGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGA GAGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG03654.hp1 HG03669.hp2 others(4): Show HG00280.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 NA18962.hp1 NA18979.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0071 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0002t0001g0047	7	426	0.0164	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGA GAGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	426	0.0024	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGAGGGAGA GAGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01167.hp2 HG01261.hp2 others(8): Show HG00438.hp2 HG01167.hp2 HG01261.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02273.hp2 HG02735.hp2 HG03239.hp2 HG03654.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0020 a0001c0001t0001g0077	11	426	0.0258	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGA GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGA GGGGGAGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	426	0.0024	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGA GGGGGAGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(103): Show TTCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCT CTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG02258.hp1 HG01257.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0003 a0001c0001t0001g0009	2	426	0.0047	110	c.48 others(121): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGG GGGAGAGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179112	T T	TCTCTCTC others(103): Show TCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCCTCTCTCTCTCTCTCCTC CCCCTTCCCTCACCTCCCCCTCCGCCTCCCCTCTCCCTCCTCCCTCTCCC TCTCCCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	426	0.0024	110	c.48 others(121): Show c.4858_*4859insGGAGAGGGAGAGGGAGAGGGAGGAGGGAGAGGGG AGGCGGAGGGGGAGGTGAGGGAAGGGGGAGGAGAGAGAGAGAGAGGAGAG AGGGAGAGAGGGGGAGAGAGAGAGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4469		chr1	TogoVar
PEAK1_chr15_77103158_77425104	77332145	T T	TAAAAATA others(103): Show TAAAAATAAGTTGCTTTAAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCC ACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02572.hp1 HG02622.hp1 others(3): Show HG01496.hp1 HG02572.hp1 HG02622.hp1 HG02717.hp2 HG03209.hp2 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0035 a0001c0004t0036 a0001c0004t0034 a0001c0004t0035 a0001c0004t0036	a0001c0004t0034g0307 a0001c0004t0034g0308 a0001c0004t0035g0185 others(3): Show a0001c0004t0034g0307 a0001c0004t0034g0308 a0001c0004t0035g0185 a0001c0004t0035g0186 a0001c0004t0036g0305 a0001c0004t0036g0306	6	326	0.0184	110	c.-60 others(131): Show c.-603+33017_-603+33018insTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTTAAAGCAACTTATTTTT	PEAK1	ENSG00000173517.11	transcript	ENST00000682557.1	protein_coding	2/9			chr15	TogoVar
PEX11B_chr1_145906350_145923717	145909622	A A	ATGTTATA others(103): Show ATGTTATATATTATATGTATATTATATATAATATATGTTATATATTATAT GTATATTATATATAATATATAATTGTTATATATTATATGTATATTATATA TAATATATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp2 NA19062.hp1 HG02683.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0009 a0001c0001t0007 a0001c0001t0009	a0001c0001t0007g0041 a0001c0001t0009g0071 a0001c0001t0007g0041 a0001c0001t0009g0071	2	368	0.0054	110	c.25 others(121): Show c.2538_*2539insATTATATATTATATATAATATACATATAATATAT AACAATTATATATTATATATAATATACATATAATATATAACATATATTAT ATATAATATACATATAATATATAACA	PEX11B	ENSG00000131779.11	transcript	ENST00000369306.8	protein_coding		1727		chr1	TogoVar
PGAM5_chr12_132705842_132727734	132717313	G G	GGTGTTTG others(103): Show GGTGTTTGTGGGCGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTT TGCGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAGGG TGGAGGAGGGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	394	0.0025	110	c.371 others(125): Show c.371-119_371-118insTGGGCGGAGGAGGGGGTGTTTGAGGGTGGA GGAGGGCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGCGGGCGGAGGAGGG GGTGTTTGAGGGTGGAGGAGGGCGTGTTTG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGAM5_chr12_132705842_132727734	132717325	C C	CGGAGGAG others(103): Show CGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGAGG AGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGAGGAGGGGG TGTTTGAGGGT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03139.hp1 HG02145.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0019 a0001c0001t0007 a0001c0004t0019	a0001c0001t0007g0165 a0001c0004t0019g0172 a0001c0001t0007g0165 a0001c0004t0019g0172	2	394	0.0051	110	c.371 others(123): Show c.371-39_371-38insCGTGTTTGCGGGCGGAGGAGGGGGTGTTTGAG GGTGGAGGAGGGGGTGTTTGAGGGTGGAGGAGGGCGTGTTTGCGGGCGGA GGAGGGGGTGTTTGAGGGTGGAGGAGGG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PIK3R1_chr5_68210756_68306821	68262972	T T	TATACATG others(103): Show TATACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATG CATGTAGATACATGTGTACATATATACATGTAGATGCATGTAGATACATG TGTACATGTAG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0028 a0002c0004t0028	a0002c0004t0028g0212 a0002c0004t0028g0212	1	308	0.0033	110	c.335 others(129): Show c.335-10406_335-10405insGCATGTAGATACATGTGTACATATAT ACATGTAGATGCATGTAGATACATGTGTACATATATACATGTAGATGCAT GTAGATACATGTGTACATGTAGATACATGTAGAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(103): Show CCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCCCCTCTTCCTTCTCCCC TCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTC TCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG01884.hp2 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0058 a0001c0007t0006 a0001c0002t0058 a0001c0007t0006	a0001c0002t0058g0024 a0001c0007t0006g0025 a0001c0002t0058g0024 a0001c0007t0006g0025	2	218	0.0092	110	c.-47 others(121): Show c.-4794_-4793insAAGGAAGAGGAGAAGGAGGAAGAGGCAGAAGAAG GGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGAAGGAAGAGGGGAAGGA GGAAGGGGAAGAGGAAGGGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(103): Show CCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCTCATCTTCCTTCTCCCC TCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTC TCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0197 a0002c0004t0024g0197	1	218	0.0046	110	c.-47 others(121): Show c.-4794_-4793insAAGGAAGAGGAGAAGGAGGAAGAGGCAGAAGAAG GGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGAAGGAAGATGAGAAGGA GGAAGGGGAAGAGGAAGGGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(103): Show CCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCTCCTCTTCCTTCTCCCC TCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTTCTGCCTCTTCCTCCTTC TCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02559.hp1 NA18522.hp2 others(2): Show HG01884.hp1 HG02559.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0007 a0002c0004 others(1): Show a0001c0001 a0001c0007 a0002c0004 a0008c0017	a0001c0001t0010 a0001c0001t0026 a0001c0007t0084 others(2): Show a0001c0001t0010 a0001c0001t0026 a0001c0007t0084 a0002c0004t0024 a0008c0017t0005	a0001c0001t0010g0147 a0001c0001t0026g0148 a0001c0007t0084g0005 others(2): Show a0001c0001t0010g0147 a0001c0001t0026g0148 a0001c0007t0084g0005 a0002c0004t0024g0131 a0008c0017t0005g0126	5	218	0.0229	110	c.-47 others(121): Show c.-4794_-4793insAAGGAAGAGGAGAAGGAGGAAGAGGCAGAAGAAG GGAGAAGGAGGAGGAAGAGGAGGAGGAGGGGAGAAGGAAGAGGAGAAGGA GGAAGGGGAAGAGGAAGGGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PJA2_chr5_109329722_109414974	109340617	T T	TCCCTCTC others(103): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0288 a0003c0003t0002g0288	1	346	0.0029	110	c.200 others(129): Show c.2002-3262_2002-3261insGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGAGGGAGAGGGAGAGGGAGAGGG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(103): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCGCCCTCGCCCTCGCCCTCGCCC TCGCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0080 a0003c0003t0002g0080	1	346	0.0029	110	c.200 others(129): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGCGAGGGCGAGGGCGAGGG CGAGGGCGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PLEKHA4_chr19_48832097_48873617	48834441	G G	GAGGAGGG others(103): Show GAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGG GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0001 a0002c0002t0004g0001	1	300	0.0033	110	c.28 others(121): Show c.2847_*2848insTCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACC CAGGAGTCCAGACCTCAGCCCCTCCT	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2655		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834455	G G	GGCCTGGA others(103): Show GGCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0021 a0002c0002t0002g0021	1	300	0.0033	110	c.28 others(121): Show c.2833_*2834insTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCAGCCCCT CTTCCCTCAGACCCAGGAGTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2641		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834468	G G	GGGTCTGA others(103): Show GGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGT AGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGC CTGGACTCCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	300	0.0033	110	c.28 others(121): Show c.2820_*2821insTAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAG ACCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCA GACCTCAGCCCCTCCTCCCTCAGACC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2628		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835302	G G	GGCCTGGA others(103): Show GGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTG GGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AGGTGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	300	0.0033	110	c.19 others(121): Show c.1986_*1987insTCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCT CCTCCCTCAGACCCAGGAGTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1794		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48835525	T T	TGGACTCC others(103): Show TGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGTGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGG TGCTGGGAGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03041.hp2 HG02109.hp1 HG02647.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0090 a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0090	3	300	0.0100	110	c.17 others(121): Show c.1763_*1764insGGCTCCCAGCACCTCCTCCCTCAGACCCAGGAGT CCAGGCTCCCAGCACCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGG CCCTACTTCCTCGGACCCAGGAGTCC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1571		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	165410	G G	GCTCTGAC others(103): Show GCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC TAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGGC TCACAGTAATC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0032 a0032	a0032c0058 a0032c0058	a0032c0058t0040 a0032c0058t0040	a0032c0058t0040g0158 a0032c0058t0040g0158	1	210	0.0048	110	c.347 others(129): Show c.3476+1876_3476+1877insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACG GGGCGGGGCTCACAGTAATCCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLG_chr6_160697244_160759097	160728335	T T	TAAGAGTC others(103): Show TAAGAGTCAATATCACTTCTCACCAAATTGATCTTTGGATTCAGCCCATA CCCAATTGTTAAGGAAGAAATTACAAGATCTAAATAAAGACATATCATGT TTATATATTAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02559.hp1 HG02622.hp2 others(14): Show HG01884.hp2 HG02559.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0013 a0001c0015 others(1): Show a0001c0006 a0001c0013 a0001c0015 a0001c0024	a0001c0006t0005 a0001c0006t0013 a0001c0013t0001 others(3): Show a0001c0006t0005 a0001c0006t0013 a0001c0013t0001 a0001c0013t0009 a0001c0015t0001 a0001c0024t0009	a0001c0006t0005g0016 a0001c0006t0005g0098 a0001c0006t0005g0099 others(12): Show a0001c0006t0005g0016 a0001c0006t0005g0098 a0001c0006t0005g0099 a0001c0006t0005g0238 a0001c0006t0005g0346 a0001c0006t0005g0347 a0001c0006t0005g0348 a0001c0006t0005g0352 a0001c0006t0005g0354 a0001c0006t0013g0243 a0001c0013t0001g0024 a0001c0013t0001g0351 a0001c0013t0009g0035 a0001c0015t0001g0350 a0001c0024t0009g0246	17	384	0.0443	110	c.125 others(129): Show c.1257-2662_1257-2661insTTGTTAAGGAAGAAATTACAAGATCT AAATAAAGACATATCATGTTTATATATTAAAAGAGTCAATATCACTTCTC ACCAAATTGATCTTTGGATTCAGCCCATACCCAA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160728335	T T	TAAGAGTC others(103): Show TAAGAGTCAATATCACTTCTCACCAAATTGATCTTTGGATTCAGCCCATA CCCAATTGTTAAGGAAGAAATTACAAGATCTAAATAAAGATATATCATGT TTATATATTAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(329): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0015 a0001c0021 a0001c0025 a0001c0028 a0001c0029 a0002c0004 a0002c0007 a0002c0022 a0003c0012 a0004c0020 a0005c0010 a0006c0014 a0007c0016 a0008c0017 a0009c0019 a0010c0030 a0011c0026 a0012c0023	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(42): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0003t0001 a0001c0005t0005 a0001c0005t0011 a0001c0006t0002 a0001c0006t0004 a0001c0006t0014 a0001c0009t0004 a0001c0011t0001 a0001c0015t0001 a0001c0015t0009 a0001c0021t0004 a0001c0025t0001 a0001c0028t0004 a0001c0029t0015 a0002c0004t0003 a0002c0004t0008 a0002c0004t0011 a0002c0004t0016 a0002c0007t0001 a0002c0007t0007 a0002c0007t0023 a0002c0022t0003 a0003c0012t0001 a0003c0012t0009 a0003c0012t0021 a0004c0020t0004 a0005c0010t0004 a0006c0014t0001 a0007c0016t0001 a0008c0017t0006 a0009c0019t0001 a0010c0030t0003 a0011c0026t0001 a0012c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(305): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0328 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0006g0186 a0001c0001t0006g0187 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0006g0253 a0001c0001t0006g0329 a0001c0001t0007g0298 a0001c0001t0017g0194 a0001c0001t0018g0262 a0001c0001t0019g0217 a0001c0001t0020g0299 a0001c0001t0022g0309 a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0015 a0001c0002t0001g0021 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0060 a0001c0002t0001g0073 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0090 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0149 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0265 a0001c0002t0001g0290 a0001c0002t0001g0307 a0001c0002t0001g0311 a0001c0002t0001g0319 a0001c0002t0001g0320 a0001c0002t0001g0339 a0001c0002t0001g0353 a0001c0002t0006g0053 a0001c0002t0009g0245 a0001c0003t0001g0011 a0001c0003t0001g0049 a0001c0003t0001g0057 a0001c0003t0001g0089 a0001c0003t0001g0112 a0001c0003t0001g0130 a0001c0003t0001g0132 a0001c0003t0001g0134 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0156 a0001c0003t0001g0157 a0001c0003t0001g0197 a0001c0003t0001g0198 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0205 a0001c0003t0001g0206 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0234 a0001c0003t0001g0235 a0001c0003t0001g0251 a0001c0003t0001g0261 a0001c0003t0001g0266 a0001c0003t0001g0288 a0001c0003t0001g0289 a0001c0003t0001g0321 a0001c0003t0001g0322 a0001c0003t0001g0323 a0001c0003t0001g0335 a0001c0003t0001g0337 a0001c0005t0005g0240 a0001c0005t0011g0115 a0001c0006t0002g0043 a0001c0006t0002g0044 a0001c0006t0002g0047 a0001c0006t0002g0114 a0001c0006t0002g0276 a0001c0006t0002g0310 a0001c0006t0004g0048 a0001c0006t0014g0037 a0001c0009t0004g0025 a0001c0009t0004g0046 a0001c0009t0004g0067 a0001c0011t0001g0230 a0001c0011t0001g0231 a0001c0011t0001g0232 a0001c0011t0001g0236 a0001c0015t0001g0316 a0001c0015t0009g0244 a0001c0021t0004g0012 a0001c0025t0001g0295 a0001c0028t0004g0233 a0001c0029t0015g0032 a0002c0004t0003g0019 a0002c0004t0003g0020 a0002c0004t0003g0023 a0002c0004t0003g0077 a0002c0004t0003g0078 a0002c0004t0003g0079 a0002c0004t0003g0255 a0002c0004t0003g0271 a0002c0004t0003g0277 a0002c0004t0003g0279 a0002c0004t0003g0280 a0002c0004t0003g0281 a0002c0004t0003g0283 a0002c0004t0003g0284 a0002c0004t0003g0285 a0002c0004t0003g0286 a0002c0004t0003g0287 a0002c0004t0003g0341 a0002c0004t0003g0344 a0002c0004t0008g0006 a0002c0004t0008g0030 a0002c0004t0008g0031 a0002c0004t0008g0033 a0002c0004t0008g0034 a0002c0004t0011g0306 a0002c0004t0016g0080 a0002c0007t0001g0278 a0002c0007t0001g0282 a0002c0007t0007g0038 a0002c0007t0007g0039 a0002c0007t0007g0040 a0002c0007t0007g0042 a0002c0007t0007g0045 a0002c0007t0007g0096 a0002c0007t0007g0097 a0002c0007t0007g0291 a0002c0007t0007g0292 a0002c0007t0023g0050 a0002c0022t0003g0267 a0003c0012t0001g0239 a0003c0012t0001g0254 a0003c0012t0009g0036 a0003c0012t0021g0315 a0004c0020t0004g0336 a0004c0020t0004g0342 a0005c0010t0004g0017 a0005c0010t0004g0241 a0005c0010t0004g0242 a0006c0014t0001g0146 a0006c0014t0001g0148 a0006c0014t0001g0318 a0007c0016t0001g0018 a0008c0017t0006g0014 a0009c0019t0001g0317 a0009c0019t0001g0327 a0010c0030t0003g0019 a0011c0026t0001g0068 a0012c0023t0001g0100	332	384	0.8646	110	c.125 others(129): Show c.1257-2662_1257-2661insTTGTTAAGGAAGAAATTACAAGATCT AAATAAAGATATATCATGTTTATATATTAAAAGAGTCAATATCACTTCTC ACCAAATTGATCTTTGGATTCAGCCCATACCCAA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	10/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLXNA4_chr7_132118340_132581470	132132380	T T	TTGTTCTG others(103): Show TTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTT CTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTT CTGTTCTGTTC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp2 NA19074.hp2 HG02080.hp1 HG02080.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0026 a0001c0001 a0001c0009 a0001c0026	a0001c0001t0010 a0001c0009t0010 a0001c0026t0001 a0001c0001t0010 a0001c0009t0010 a0001c0026t0001	a0001c0001t0010g0053 a0001c0009t0010g0023 a0001c0026t0001g0020 a0001c0001t0010g0053 a0001c0009t0010g0023 a0001c0026t0001g0020	3	88	0.0341	110	c.558 others(127): Show c.5589+668_5589+669insGAACAGAACAGAACAGAACAGAACAGAA CAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAA CAGAACAGAACAGAACAGAACAGAACAGAACA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
POLG_chr15_89311320_89339824	89325199	T T	TGAGAGAG others(103): Show TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTG AGTGAGTGAGTGAGTGAGTGAGTGAGAGTGAGAGAGTGAGTGAGTGAGTG AGAGAGTGAGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	398	0.0025	110	c.194 others(127): Show c.1949+250_1949+251insTCTCACTCTCTCACTCACTCACTCACTC TCTCACTCTCACTCACTCACTCACTCACTCACTCACTCACTCTCTCACTC TCTCACTCACTCACTCTCTCACTCACTCTCTC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPA1_chr10_70197835_70238429	70206860	A A	AGGAGGGG others(103): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG04184.hp1 HG03453.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0265 a0001c0001t0003g0268	2	408	0.0049	110	c.726 others(125): Show c.726-528_726-527insCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCC	PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10			chr10	TogoVar
PPARGC1A_chr4_23787021_23895047	23844698	T T	TATATATT others(103): Show TATATATTATTATAATATATGATATATCATAATATATGATATATATTATA ATAATATATGATATATATTATAATAATATATGATATATATTATTATAATA TATGATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0302 a0001c0001t0002g0302	1	342	0.0029	110	c.235 others(129): Show c.235-12948_235-12947insTATATATCATATATTATAATAATATA TATCATATATTATTATAATATATATCATATATTATTATAATATATATCAT ATATTATGATATATCATATATTATAATAATATAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844764	A A	AATAATAT others(103): Show AATAATATATGATATATATTATTATAATATATGATATATATTATAATAAT ATATGATATATATTATAATAATATATGATATATATTATTATAATATATGA TATATATTATT	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19085.hp1 NA19070.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0026 a0002c0002t0001 a0002c0002t0026	a0002c0002t0001g0110 a0002c0002t0026g0048 a0002c0002t0001g0110 a0002c0002t0026g0048	2	342	0.0059	110	c.235 others(129): Show c.235-13014_235-13013insAATAATATATATCATATATTATAATA ATATATATCATATATTATTATAATATATATCATATATTATTATAATATAT ATCATATATTATAATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844764	A A	AATAATAT others(103): Show AATAATATATGATATATATTATTATAATATATGATATATATTATAATAAT ATATGATATATATTATTATAATATATGATATATATTATTATAATATATGA TATATATTATT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18963.hp1 NA18969.hp1 others(3): Show NA18953.hp2 NA18963.hp1 NA18969.hp1 NA18975.hp1 NA18995.hp1 NA19085.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0017 a0002c0002t0001g0331 a0002c0002t0001g0332 others(3): Show a0002c0002t0001g0017 a0002c0002t0001g0331 a0002c0002t0001g0332 a0002c0002t0006g0049 a0002c0002t0006g0221 a0002c0002t0006g0319	6	342	0.0175	110	c.235 others(129): Show c.235-13014_235-13013insAATAATATATATCATATATTATAATA ATATATATCATATATTATAATAATATATATCATATATTATTATAATATAT ATCATATATTATAATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844764	A A	AATAATAT others(103): Show AATAATATATGATATATATTATTATAATATATGATATATATTATTATAAT ATATGATATATATTATTATAATATATGATATATATTATTATAATATATGA TATATATTATT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0177 a0001c0001t0007g0177	1	342	0.0029	110	c.235 others(129): Show c.235-13014_235-13013insAATAATATATATCATATATTATAATA ATATATATCATATATTATAATAATATATATCATATATTATAATAATATAT ATCATATATTATAATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844786	A A	AATAATAT others(103): Show AATAATATATGATATATATTATAATAATATATGATATATATTATTATAAT ATATGATATATATTATTATAATATATGATATATATTATTATAATATATGA TATATATTATT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02056.hp2 HG01167.hp1 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0096 a0001c0001t0031g0292 a0001c0001t0002g0096 a0001c0001t0031g0292	2	342	0.0059	110	c.235 others(129): Show c.235-13036_235-13035insAATAATATATATCATATATTATAATA ATATATATCATATATTATAATAATATATATCATATATTATAATAATATAT ATCATATATTATTATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844786	A A	AATAATAT others(103): Show AATAATATATGATATATATTATTATAATATATGATATATATTATAATAAT ATATGATATATATTATTATAATATATGATATATATTATTATAATATATGA TATATATTATT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02145.hp1 HG02145.hp2 others(8): Show HG00741.hp1 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02717.hp1 HG02818.hp1 HG02896.hp2 HG03139.hp2 HG03225.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0018 a0001c0001t0032 others(3): Show a0001c0001t0008 a0001c0001t0018 a0001c0001t0032 a0001c0001t0033 a0001c0001t0044 a0001c0001t0045	a0001c0001t0008g0051 a0001c0001t0008g0156 a0001c0001t0018g0035 others(8): Show a0001c0001t0008g0051 a0001c0001t0008g0156 a0001c0001t0018g0035 a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0032g0030 a0001c0001t0032g0272 a0001c0001t0033g0166 a0001c0001t0033g0170 a0001c0001t0044g0183 a0001c0001t0045g0184	11	342	0.0322	110	c.235 others(129): Show c.235-13036_235-13035insAATAATATATATCATATATTATAATA ATATATATCATATATTATAATAATATATATCATATATTATTATAATATAT ATCATATATTATAATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844786	A A	AATAATAT others(103): Show AATAATATATGATATATATTATTATAATATATGATATATATTATTATAAT ATATGATATATATTATTATAATATATGATATATATTATTATAATATATGA TATATATTATT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG02258.hp1 others(6): Show HG01106.hp1 HG01243.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp1 HG02698.hp1 HG02809.hp1 HG02886.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(1): Show a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018	a0001c0001t0007g0041 a0001c0001t0008g0188 a0001c0001t0008g0190 others(6): Show a0001c0001t0007g0041 a0001c0001t0008g0188 a0001c0001t0008g0190 a0001c0001t0008g0191 a0001c0001t0008g0197 a0001c0001t0008g0203 a0001c0001t0009g0152 a0001c0001t0009g0192 a0001c0001t0018g0193	9	342	0.0263	110	c.235 others(129): Show c.235-13036_235-13035insAATAATATATATCATATATTATAATA ATATATATCATATATTATAATAATATATATCATATATTATAATAATATAT ATCATATATTATAATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23844852	T T	TATAATAT others(103): Show TATAATATATGATATATATTATTATAATATATGATATATATTATTATAAT ATATGATATATATTATTATAATATATGATATATATTATAATAATATATGA TATATATTATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0148 a0002c0002t0011g0148	1	342	0.0029	110	c.235 others(129): Show c.235-13102_235-13101insTATAATATATATCATATATTATTATA ATATATATCATATATTATAATAATATATATCATATATTATAATAATATAT ATCATATATTATAATAATATATATCATATATTAT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPP2R5A_chr1_212280410_212366853	212349609	C C	CCCCCCCC others(103): Show CCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCACCCCCCCCCC CCCCCACTCCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCCCCACCCCCC CCCCCCTCCGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0358 a0001c0001t0004g0358	1	384	0.0026	110	c.927 others(125): Show c.927+367_927+368insCCCCCCCCCCCCCCCCCCCACCCCCCCCCC CCCCCCCCACCCCCCCCCCCCCCCACTCCCCCCCCCCCCCCCCCCCCCCC TCCCCCCCCCCCACCCCCCCCCCCCTCCGT	PPP2R5A	ENSG00000066027.12	transcript	ENST00000261461.7	protein_coding	8/12			chr1	TogoVar
PPP4R2_chr3_72991811_73074198	73018452	T T	TGTTATGT others(103): Show TGTTATGTTATGTTATGTTTGTTATGTTATGTTATGTTATTTATGTTATG TTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTAT GTTATGTTATG	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0176 a0001c0001t0025g0176	1	360	0.0028	110	c.116 others(129): Show c.116+20294_116+20295insGTTATGTTATGTTATGTTTGTTATGT TATGTTATGTTATTTATGTTATGTTTATGTTATGTTATGTTATGTTATGT TATGTTATGTTATGTTATGTTATGTTATGTTATG	PPP4R2	ENSG00000163605.16	transcript	ENST00000356692.10	protein_coding	2/8			chr3	TogoVar
PPP4R4_chr14_94169322_94284734	94174282	T T	TCCTCGCC others(103): Show TCCTCGCCGGGCCCGCCCCGCCTCCTCGCCGGGCCCGCCCCGCCCCCTCG CCGGGCCCGCCCCGCCCCCTCGCCGGGCCCGCCCCGCCCCCTCGCCGGGC CCGCCCCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	307	0.0033	110	c.-18 others(119): Show c.-184_-183insCCTCGCCGGGCCCGCCCCGCCTCCTCGCCGGGCCCG CCCCGCCCCCTCGCCGGGCCCGCCCCGCCCCCTCGCCGGGCCCGCCCCGC CCCCTCGCCGGGCCCGCCCCGCCC	PPP4R4	ENSG00000119698.12	transcript	ENST00000304338.8	protein_coding		39		chr14	TogoVar
PRDM12_chr9_130659594_130687983	130680659	A A	ATAAATAT others(103): Show ATAAATATATATATATATATATATAAATATATATATATATATATATAAAT ATATATATATATATATATATATAAATATATATATATATATATATATATAT TTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0331 a0002c0001t0005g0331	1	392	0.0026	110	c.683 others(125): Show c.683-588_683-587insAAATATATATATATATATATATAAATATAT ATATATATATATATAAATATATATATATATATATATATATAAATATATAT ATATATATATATATATATTTTTTTTTTTTT	PRDM12	ENSG00000130711.5	transcript	ENST00000253008.3	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr9	TogoVar
PRIM2_chr6_57312630_57651850	57470413	C C	CCCCTCTC others(103): Show CCCCTCTCCCCTCTCCCCCTCTCCCTCTCCCCTCTCCCCTCTCCCCTCTC CCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCT CTCCCCTCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	300	0.0033	110	c.694 others(129): Show c.694-36950_694-36949insTCTCCCCTCTCCCCTCTCCCCTCTCC CCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTC TCCCCTCTCTCCCTCTCCCCTCTCCCCCTCTCCC	PRIM2	ENSG00000146143.19	transcript	ENST00000615550.5	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCA_chr17_66297613_66815743	66495558	T T	TTTTTTTT others(103): Show TTTTTTTTTATTTTTTTTATTTTTTTTTATTTTTTTATTTTATTTTTTTT TATTTTATTTTTTATTTTATGTTTTGTTTTGTTTTGTTTTGTTTTGTTTT GTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02630.hp2 HG02922.hp1 HG02622.hp1 HG02630.hp2 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0021 a0001c0002t0050 a0001c0005t0039 a0001c0002t0021 a0001c0002t0050 a0001c0005t0039	a0001c0002t0021g0115 a0001c0002t0050g0034 a0001c0005t0039g0108 a0001c0002t0021g0115 a0001c0002t0050g0034 a0001c0005t0039g0108	3	178	0.0169	110	c.206 others(125): Show c.206-640_206-639insTTTTTATTTTTTTTATTTTTTTTTATTTTT TTATTTTATTTTTTTTTATTTTATTTTTTATTTTATGTTTTGTTTTGTTT TGTTTTGTTTTGTTTTGTTTTGTTTTGTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKN_chr6_161342417_162732766	161895495	T T	TACGCCCA others(103): Show TACGCCCACCCCACCTGCCGTTATGCCCCCCAGTGAGGCTTCTGAGATTC AGGAGCACGCCCACCCCTCCTGCTGTTATGCCCCCCAGTGAGGCTTCTGA GATTCAGGAGC	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0021 a0001c0001t0003g0021	1	32	0.0313	110	c.734 others(129): Show c.734+77806_734+77807insGCTCCTGAATCTCAGAAGCCTCACTG GGGGGCATAACAGCAGGAGGGGTGGGCGTGCTCCTGAATCTCAGAAGCCT CACTGGGGGGCATAACGGCAGGTGGGGTGGGCGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PRKN_chr6_161342417_162732766	161895521	C C	ACCCCAGT others(103): Show ACCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCACCCCACCTGCTGT TATGCTCCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCACCCCTCCT GCCGTTATGCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	32	0.0313	110	c.734 others(129): Show c.734+77781_734+77782insGCATAACGGCAGGAGGGGTGGGCGTG CTCCTGAATCTCAGAAGCCTCACTGGGGAGCATAACAGCAGGTGGGGTGG GCGTGCTCCTGAATCTCAGAAGCCTCACTGGGGT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar

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Search Results (Total: 10000 hits)