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
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(194): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	410	0.0024	201	c.980 others(216): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(194): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCT GCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCT GC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02897.hp2 HG01081.hp2 HG02897.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0058 a0001c0011t0003g0361 a0001c0011t0003g0058 a0001c0011t0003g0361	2	402	0.0050	201	c.775 others(216): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCT GCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(194): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTGCCCCTTCACCTCTGCCCCTGCCCCTTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCT GCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCT GC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0011 a0001c0017t0011	a0001c0017t0011g0360 a0001c0017t0011g0360	1	402	0.0025	201	c.775 others(216): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTGCCCCTTCACCTCTGCCCCT GCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(194): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCTTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGC CCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCT GCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCT GC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0400 a0001c0026t0001g0400	1	402	0.0025	201	c.775 others(216): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCGCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAM5_chr12_132705842_132727734	132727539	C C	CGCCCGGG others(194): Show CGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGGCACCGCGGGCACATG CGCCCGGACGGAGGAGACGCACTGCTGAACCCTGGCACCGTGGGCACACG CGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGGCACCAGTGGGCACAC GCGCCCGGATGGAGGAGATGCACTGCTGAACCCTGGCACCGTGGGCACAC GT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	394	0.0025	201	c.67 others(212): Show c.6711_*6712insGCCCGGGCGGAGGAGAGGCATTGCTGAACCCTGG CACCGCGGGCACATGCGCCCGGACGGAGGAGACGCACTGCTGAACCCTGG CACCGTGGGCACACGCGCCCGGGCGGAGGAGAGGCACTGCTGAACCCTGG CACCAGTGGGCACACGCGCCCGGATGGAGGAGATGCACTGCTGAACCCTG GCACCGTGGGCACACGT	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		4806		chr12	TogoVar
PIEZO1_chr16_88710338_88790220	88710469	T T	TGTGTGTG others(194): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACA GCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGCGTGTGTGCGGCCCAC TCTCAGATGTGTTTACAGCAGGTGCACAAATCAGAAGCTGGGTCCACAGC GC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0011 a0011	a0011c0040 a0011c0040	a0011c0040t0001 a0011c0040t0001	a0011c0040t0001g0151 a0011c0040t0001g0151	1	282	0.0036	201	c.51 others(212): Show c.5135_*5136insGCGCTGTGGACCCAGCTTCTGATTTGTGCACCTG CTGTAAACACATCTGAGAGTGGGCCGCACACACGCACTGTGGACCCAGCT TCTGATTTGTGCACCTGCTGTAAACACATCTGAGAGTGGGCCGCACACAC GCGCTGTGGACCCAGCTTCTGATTTGTGCACCTGCTGTAAACACATCTGA GAGTGGGCCGCACACAC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding		4868		chr16	TogoVar
PIK3C2A_chr11_17081575_17212986	17193868	A A	AGGAGGGG others(194): Show AGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	342	0.0029	201	c.-66 others(220): Show c.-66+13979_-66+13980insCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCC	PIK3C2A	ENSG00000011405.14	transcript	ENST00000691414.1	protein_coding	1/32			chr11	TogoVar
PIP5K1C_chr19_3625183_3705468	3649703	A A	ACCCGGCA others(194): Show ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC ACCCGGCACCGTGCCCACACGTCCCCTGCCCAGCGCGGGAGTTAACTGTC AC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02071.hp2 HG00597.hp1 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0008 a0001c0002t0003 a0001c0002t0008	a0001c0002t0003g0316 a0001c0002t0008g0286 a0001c0002t0003g0316 a0001c0002t0008g0286	2	332	0.0060	201	c.112 others(218): Show c.1128-996_1128-995insGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGGTGACAGTTAACTCCCGCGCTGGGCAGG GGACGTGTGGGCACGGTGCCGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PIP5K1C_chr19_3625183_3705468	3649824	T T	TCCCCTGC others(194): Show TCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCCGGCACCGTGCCCACAC GTCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACAC GTCCCCTGCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACG TCCCCTGCCCAGCGCGGGAGTTAACTGTCACCCGGCACCGTGCCCACACG TC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0012 a0001c0018t0012	a0001c0018t0012g0041 a0001c0018t0012g0041	1	332	0.0030	201	c.112 others(220): Show c.1128-1117_1128-1116insGACGTGTGGGCACGGTGCCGGGTGAC AGTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGTGAC AGTTAACTCCCGCGCTGGCAGGGGACGTGTGGGCACGGTGCCGGGTGACA GTTAACTCCCGCGCTGGGCAGGGGACGTGTGGGCACGGTGCCGGGGTGAC AGTTAACTCCCGCGCTGGGCAGGGG	PIP5K1C	ENSG00000186111.11	transcript	ENST00000335312.8	protein_coding	8/17			chr19	TogoVar
PKP3_chr11_389209_409908	397905	C C	CACCTGCG others(194): Show CACCTGCGTCACCTCCGTACCCCCACATATACCTCATCACCTCCATACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCATCACCT CCATACCCCCACACACACCTGCGTCACCTCCGTACCCCCGCACACACCTG TGTCACCTCCCTACCCCCACATATACCTCATCACCTCCGTACACCCGCAC AT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0104 a0001c0009t0001g0104	1	216	0.0046	201	c.106 others(218): Show c.1068+392_1068+393insTGTCACCTCCCTACCCCCACATATACCT CATCACCTCCGTACACCCGCACATACCTGCGTCACCTCCGTACCCCCACA TATACCTCATCACCTCCATACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCATCACCTCCATACCCCCACACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTG	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401321	G G	GCCCCGCT others(194): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCC CCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCG CTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACACCC GC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0125 a0001c0002t0001g0125	1	216	0.0046	201	c.173 others(218): Show c.1737+619_1737+620insCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCC CGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGC TCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACC CCCGGCCCGCTCACACCCGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLA2G4A_chr1_186823949_186993981	186857071	C C	CTTTTAAC others(194): Show CTTTTAACATGGCAGTCATATATAATATATATTATATAATATTATATATT ATATATTATATATTATATAATATATATTATATAATATATATTATATATTA TATAATATAATTATATATTATATATTATATAATATAATTATATATTATAT AATTATATAATTATATAATATATTATATAATTATATAATTATATAATATA TT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	310	0.0032	201	c.33+ others(216): Show c.33+2684_33+2685insTTTTAACATGGCAGTCATATATAATATATA TTATATAATATTATATATTATATATTATATATTATATAATATATATTATA TAATATATATTATATATTATATAATATAATTATATATTATATATTATATA ATATAATTATATATTATATAATTATATAATTATATAATATATTATATAAT TATATAATTATATAATATATT	PLA2G4A	ENSG00000116711.10	transcript	ENST00000367466.4	protein_coding	2/17			chr1	TogoVar
PLCXD1_chrX_276381_308356	280804	C C	CCGTGCAG others(194): Show CCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGGCCGTGCAGGC GGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAG GCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0068 a0001c0001t0052g0068	1	176	0.0057	201	c.-90 others(210): Show c.-902_-901insCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGGG AGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCCGTGC AGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGGAAGG GAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGC AGGCAGAGGGGAAGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		576		chrX	TogoVar
PLCXD1_chrX_276381_308356	280833	G G	GGGAAGGG others(194): Show GGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAG GGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGA GGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAG GA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0043 a0001c0001t0050g0043	1	176	0.0057	201	c.-87 others(210): Show c.-873_-872insGGAAGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGC AGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGG GGAAGACGTGCAGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTG CAGGGGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGG GGAAGACGTGCAGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		547		chrX	TogoVar
PLCXD1_chrX_276381_308356	280857	A A	AGGGAGGC others(194): Show AGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGGGG AAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGGGGGAAGGGAGGCC GTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAAGACGTGCAGGAGG AG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0071 a0001c0001t0071	a0001c0001t0071g0052 a0001c0001t0071g0052	1	176	0.0057	201	c.-84 others(210): Show c.-849_-848insGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGG GGCAGCGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGGGGAAGGGAGGCCGTGCAGGAGGAGGGGAGGCCGTGCAGG GGGAAGGGAGGCCGTGCAGGGGGAAGGGAGGCCGTGCAGGCAGAGGGGAA GACGTGCAGGAGGAG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		523		chrX	TogoVar
PLD4_chr14_104919879_104938236	104933702	G G	GGGGACGG others(194): Show GGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCG GGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGG CTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGG GCGGGAGGCGACCCGGGGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGG GC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	426	0.0024	201	c.73 others(210): Show c.738_*739insGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGG GACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGA GGGGACCCGGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACCCGCGTCTGA GGGGACCGGGAGGGCGGGAGGCGACCCGGGGGCTGAGTGAGGGGAGGGTG GGAGGGGAGCGGGGC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		467		chr14	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(194): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTGTATATATATGTATATATATGTATATATATGTAT ATATATACATATATACATATATATATACACACACATATATATACACACAC ACACATAATACATATATATATTATATACATATATATATGTATTATATATA TG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0148 a0001c0002t0015g0148	1	170	0.0059	201	c.106 others(220): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATATAT GTATATATATGTATATATATACATATATACATATATATATACACACACAT ATATATACACACACACACATAATACATATATATATTATATACATATATAT ATGTATTATATATATGTATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPCS_chr1_42451543_42466236	42461713	A A	ATTTTTTT others(194): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA AT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	396	0.0025	201	c.17 others(212): Show c.1787_*1788insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGA CTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGC CACCGCGCCCGGCTAAT	PPCS	ENSG00000127125.9	transcript	ENST00000372561.4	protein_coding		478		chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(194): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCT TCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCT TCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCTTCCCTTCTCCCTTCCCT TC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0229 a0012c0011t0001g0229	1	328	0.0031	201	c.845 others(218): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCCTTCCCTTC CCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCC TTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCC CCTTCCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(194): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCT CCTTCCCCCTTCCCTTCCCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTT CCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTT CCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCT TC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00408.hp2 others(77): Show HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01123.hp1 HG01258.hp1 HG01261.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03710.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp2 NA18941.hp1 NA18945.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp2 NA18969.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19076.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0001c0001t0005 a0011c0010t0001 a0001c0001t0001 a0001c0001t0005 a0011c0010t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0119 others(75): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0314 a0001c0001t0005g0186 a0011c0010t0001g0209	80	328	0.2439	201	c.845 others(218): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCC CCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCT TCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCC CCTTCCCTTCTCCCTTCCCTTCC	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PRKCB_chr16_23830983_24225611	23981914	C C	CCCTTTAC others(194): Show CCCTTTACCTTCCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCCTTCCCCT TCCCTTCCCTTCTCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCCTT CCCTTTCCCTTCCCTTCCCTTTCCCTTCCCCCTCCCCTTCCCTTTCCCTT ACCCTTCCCTTTCCCTTCCCCTTCTCTTTCCTTTCCCTTTCCCTTTCCAT TT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0078 a0001c0005t0078	a0001c0005t0078g0014 a0001c0005t0078g0014	1	148	0.0068	201	c.206 others(218): Show c.206-6592_206-6591insTTTACCTTCCCCTTCCCTTTCCCTTCCC TTTCCCTTCCCCTTCCCCTTCCCTTCCCTTCTCCTTCCCTTCCCCTTCCC TTCCCTTTCCCTTCCCCTTCCCTTTCCCTTCCCTTCCCTTTCCCTTCCCC CTCCCCTTCCCTTTCCCTTACCCTTCCCTTTCCCTTCCCCTTCTCTTTCC TTTCCCTTTCCCTTTCCATTTCC	PRKCB	ENSG00000166501.14	transcript	ENST00000643927.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRKCZ_chr1_2045411_2190395	2122479	G G	GTCACGGC others(194): Show GTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGATCACA GCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0079 a0001c0001t0004g0079	1	286	0.0035	201	c.335 others(220): Show c.335-12782_335-12781insCACGGCTGTAGTTAGGGTCACGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGATCACAGCGATAGTTAGCATCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122479	G G	GTCACGGC others(194): Show GTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACA GCGATAGTTAGCGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	286	0.0035	201	c.335 others(220): Show c.335-12782_335-12781insCACGGCTGTAGTTAGGGTCACGGTGG TAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGT CATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGTCATGGTGGTAGTTA GGGTCATGGTGGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122479	G G	GTCATGGT others(194): Show GTCATGGTGGTGGTTAGGTTCATGGTGGTAGTTAGGGTCACGGCTGTAGT TAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCGT CA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18968.hp2 NA18943.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0057 a0001c0001t0012g0058 a0001c0001t0001g0057 a0001c0001t0012g0058	2	286	0.0070	201	c.335 others(220): Show c.335-12782_335-12781insCATGGTGGTGGTTAGGTTCATGGTGG TAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGATCATG GCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGT CATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTA GGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123271	C C	CACGGCGG others(194): Show CACGGCGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTA GGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTGGTA GTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACAGC GATAGTTAGCATCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCA TG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0264 a0001c0003t0001g0264	1	286	0.0035	201	c.335 others(220): Show c.335-11991_335-11990insACGGCGGTAGTTAGGATCATGGCTGT AGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGG TGGTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCACGGCTGTAGTTAGGGTCATG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKX_chrX_3599340_3718649	3639336	G G	GATGAAGG others(194): Show GATGAAGGGGTGGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATG GATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGG ATGAAGGGGTGGGGGGGTCGGGGGGTGGATGGATGAAGGGTGGGTGGATG GATGAAGGGGTGGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGATT GA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0054 a0001c0002t0046g0054	1	227	0.0044	201	c.719 others(218): Show c.719+2515_719+2516insTCAATCATCCACCCCCCCCACCCCTTCA TCCATCCACCCCCACCCCTTCATCCATCCACCCACCCTTCATCCATCCAC CCCCCGACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATC CATCCACCCCCCCACCCCTTCATCCATCCACCCCCCCCACCCCTTCATCC ATCCACCCCCCCCACCCCTTCAT	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRPF31_chr19_54110754_54136713	54133882	T T	TCTCTCTC others(194): Show TCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCCACCT CCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTGTCTCCACCTCCCCTC CCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCC ACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCCCCTCTCTCTCTCCCT CC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	227	0.0044	201	c.24 others(212): Show c.2450_*2451insCTCTCTCCCTCCCTCTCCACCTCCCCTCTCTCTC CCTCCCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTTCCCTG TCTCCACCTCCCCTCCCTCTGTCCCTCCCTCTCTCCACCTCCCCTCTCTC TCCCTCCCTCTCTCCACCTCCCCTCTCTCTCCCTCCCTCTCTCCACCTCC CCTCTCTCTCTCCCTCC	PRPF31	ENSG00000105618.14	transcript	ENST00000321030.9	protein_coding		2170		chr19	TogoVar
PSD3_chr8_18522303_19018703	18594313	T T	TTATATAT others(194): Show TTATATATATTATATAATATATATTATATATATATTATATAATATATATT ATTATATATATTATATAATATATATATTATATATATTATATAATATATAT TATTATATATATTATATAATATATATTATTATATATATTATATAATATAT ATTATTATATATATTATATAATATATATTATTATATATAATAAATATTAT TA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0066 a0002c0003t0001g0066	1	228	0.0044	201	c.248 others(220): Show c.2481+6050_2481+6051insTAATAATATTTATTATATATAATAAT ATATATTATATAATATATATAATAATATATATTATATAATATATATAATA ATATATATTATATAATATATATAATAATATATATTATATAATATATATAA TATATATATTATATAATATATATAATAATATATATTATATAATATATATA TAATATATATTATATAATATATATA	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PUM3_chr9_2799152_2849095	2814057	T T	TCTAACCA others(194): Show TCTAACCACCTCAAAATGAATAACTAATTACAACCACTCAGGGAAAATGA ACTTAAAATTTCAGTAACAAACGGGAAAACACACAAAAAACATACAGAAC TTGTTACAAGGCAGGGAACTCTCTCAAAGAAAACAAGCTCCAAAGTGAAC TCAAACTATTTTTTTTTTTTTTTTGAGACGGAATCTCACTCTGTTGCCCA GG	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA19240.hp1 HG02572.hp1 NA19240.hp1	a0007 a0014 a0007 a0014	a0007c0012 a0014c0017 a0007c0012 a0014c0017	a0007c0012t0001 a0014c0017t0001 a0007c0012t0001 a0014c0017t0001	a0007c0012t0001g0167 a0014c0017t0001g0168 a0007c0012t0001g0167 a0014c0017t0001g0168	2	420	0.0048	201	c.127 others(220): Show c.1270-1696_1270-1695insCCTGGGCAACAGAGTGAGATTCCGTC TCAAAAAAAAAAAAAAAATAGTTTGAGTTCACTTTGGAGCTTGTTTTCTT TGAGAGAGTTCCCTGCCTTGTAACAAGTTCTGTATGTTTTTTGTGTGTTT TCCCGTTTGTTACTGAAATTTTAAGTTCATTTTCCCTGAGTGGTTGTAAT TAGTTATTCATTTTGAGGTGGTTAG	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	13/17			chr9	TogoVar
PUM3_chr9_2799152_2849095	2814057	T T	TCTAACCA others(194): Show TCTAACCACCTCAAAATGAATAACTAATTACAACCACTCAGGGAAAATGA ACTTAAAATTTCAGTAACAAACGGGAAAACACACAAAAAACATACAGAAC TTGTTACAAGGCAGGGAACTCTCTCAAGGAAAACAAGCTCCAAAGTGAAC TCAAACTATTTTTTTTTTTTTTTTGAGACAGAATCTCACTCTGTTGCCCA GG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03139.hp2 HG02896.hp2 HG03139.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0004 a0010c0015t0005 a0010c0015t0004 a0010c0015t0005	a0010c0015t0004g0056 a0010c0015t0005g0049 a0010c0015t0004g0056 a0010c0015t0005g0049	2	420	0.0048	201	c.127 others(220): Show c.1270-1696_1270-1695insCCTGGGCAACAGAGTGAGATTCTGTC TCAAAAAAAAAAAAAAAATAGTTTGAGTTCACTTTGGAGCTTGTTTTCCT TGAGAGAGTTCCCTGCCTTGTAACAAGTTCTGTATGTTTTTTGTGTGTTT TCCCGTTTGTTACTGAAATTTTAAGTTCATTTTCCCTGAGTGGTTGTAAT TAGTTATTCATTTTGAGGTGGTTAG	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	13/17			chr9	TogoVar
PUM3_chr9_2799152_2849095	2814057	T T	TCTAACCA others(194): Show TCTAACCACCTCAAAATGAATAACTAATTACAACCACTCAGGGAAAATGA ACTTAAAATTTCAGTAACAAACGGGAAAACACACAAAAAACATACAGAAC TTGTTACAAGGCAGGGAACTCTCTCAAGGAAAACAAGCTCCAAAGTGAAC TCAAACTATTTTTTTTTTTTTTTTGAGACGGAATCTCACTCTGTTGCCCA GG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG01074.hp2 others(41): Show HG00544.hp1 HG00558.hp2 HG01074.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02572.hp2 HG02809.hp2 HG02922.hp1 HG03209.hp1 HG03453.hp2 HG03710.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp1 NA18945.hp2 NA18973.hp1 NA18979.hp1 NA18984.hp1 NA18988.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA19004.hp1 NA19063.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp2 NA19081.hp1 NA19087.hp1 NA19091.hp2 NA20805.hp1	a0002 a0003 a0005 others(6): Show a0002 a0003 a0005 a0007 a0008 a0011 a0013 a0016 a0023	a0002c0002 a0002c0007 a0003c0004 others(7): Show a0002c0002 a0002c0007 a0003c0004 a0005c0008 a0007c0012 a0008c0011 a0011c0016 a0013c0025 a0016c0022 a0023c0029	a0002c0002t0001 a0002c0007t0001 a0003c0004t0001 others(7): Show a0002c0002t0001 a0002c0007t0001 a0003c0004t0001 a0005c0008t0001 a0007c0012t0001 a0008c0011t0001 a0011c0016t0001 a0013c0025t0004 a0016c0022t0001 a0023c0029t0001	a0002c0002t0001g0243 a0002c0007t0001g0238 a0003c0004t0001g0010 others(31): Show a0002c0002t0001g0243 a0002c0007t0001g0238 a0003c0004t0001g0010 a0003c0004t0001g0029 a0003c0004t0001g0030 a0003c0004t0001g0031 a0003c0004t0001g0032 a0003c0004t0001g0033 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0162 a0003c0004t0001g0163 a0003c0004t0001g0169 a0003c0004t0001g0170 a0003c0004t0001g0171 a0003c0004t0001g0172 a0003c0004t0001g0173 a0003c0004t0001g0175 a0003c0004t0001g0177 a0003c0004t0001g0178 a0003c0004t0001g0179 a0003c0004t0001g0180 a0003c0004t0001g0311 a0005c0008t0001g0027 a0005c0008t0001g0048 a0005c0008t0001g0131 a0007c0012t0001g0088 a0008c0011t0001g0185 a0008c0011t0001g0307 a0008c0011t0001g0309 a0011c0016t0001g0174 a0013c0025t0004g0138 a0016c0022t0001g0308 a0023c0029t0001g0310	44	420	0.1048	201	c.127 others(220): Show c.1270-1696_1270-1695insCCTGGGCAACAGAGTGAGATTCCGTC TCAAAAAAAAAAAAAAAATAGTTTGAGTTCACTTTGGAGCTTGTTTTCCT TGAGAGAGTTCCCTGCCTTGTAACAAGTTCTGTATGTTTTTTGTGTGTTT TCCCGTTTGTTACTGAAATTTTAAGTTCATTTTCCCTGAGTGGTTGTAAT TAGTTATTCATTTTGAGGTGGTTAG	PUM3	ENSG00000080608.10	transcript	ENST00000397885.3	protein_coding	13/17			chr9	TogoVar
RABL6_chr9_136802948_136846187	136803214	T T	TGGGGCCC others(194): Show TGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGC GGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGG CC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	330	0.0030	201	c.-49 others(212): Show c.-4983_-4982insGGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCTCCAGGGCGG GCTCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCT GGGGCCCTCCAGGGCGGGCTCTCTTGGATCTTCGGATGGGGTCAAGGTGA GCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4733		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803287	C C	CCCCCCAG others(194): Show CCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTC AGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTTCGGAT GGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCC CTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGG GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0270 a0001c0003t0001g0270	1	330	0.0030	201	c.-49 others(212): Show c.-4910_-4909insCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGG GGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCT CTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGG CCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCA GGGCCCAGGGCCGGGGG	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4660		chr9	TogoVar
RNF166_chr16_88691501_88711408	88710469	T T	TGTGTGTG others(194): Show TGTGTGTGCGGCCCACTCTCAGATGTGTTTACAGCAGGTGCACAAATCAG AAGCTGGGTCCACAGCGCGTGTGTGCGGCCCACTCTCAGATGTGTTTACA GCAGGTGCACAAATCAGAAGCTGGGTCCACAGTGCGTGTGTGCGGCCCAC TCTCAGATGTGTTTACAGCAGGTGCACAAATCAGAAGCTGGGTCCACAGC GC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0249 a0001c0001t0010g0249	1	440	0.0023	201	c.-41 others(212): Show c.-4145_-4144insGCGCTGTGGACCCAGCTTCTGATTTGTGCACCTG CTGTAAACACATCTGAGAGTGGGCCGCACACACGCACTGTGGACCCAGCT TCTGATTTGTGCACCTGCTGTAAACACATCTGAGAGTGGGCCGCACACAC GCGCTGTGGACCCAGCTTCTGATTTGTGCACCTGCTGTAAACACATCTGA GAGTGGGCCGCACACAC	RNF166	ENSG00000158717.11	transcript	ENST00000312838.9	protein_coding		4062		chr16	TogoVar
RNF182_chr6_13919952_13985310	13925069	G G	GGGCGGGG others(194): Show GGGCGGGGTGGAGTGGGGGTGGGGTGGGGTGGGGTGGGGTGGGGTGGGGT GGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGGTGCCCGCACTCGGCTG CGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGGAAACGGACGGCGGCCG CCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGCCGCCCCCGCCGCCCCC GC	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	356	0.0028	201	c.-36 others(216): Show c.-367+49_-367+50insGGGGTGGAGTGGGGGTGGGGTGGGGTGGGG TGGGGTGGGGTGGGGTGGGGCGGGGCCCGCCCGGCTCGCGGAGGGAGGGG TGCCCGCACTCGGCTGCGCCCGAGTCCCCGGGGGCCCGTCCCCACCGAGG AAACGGACGGCGGCCGCCCCCGACGCCGCTGCCGCCGCCGCCGCCCCCGC CGCCCCCGCCGCCCCCGCGGC	RNF182	ENSG00000180537.13	transcript	ENST00000488300.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
RNF213_chr17_80255852_80403794	80274759	T T	TGTGGGGG others(194): Show TGTGGGGGGTGAGTGGGGTGAGTGGGGGGGGTGAGTGGGGGGTGAGTGGG GTGAGTGTGGGGTGTGAGTGGGGTGTCTGTGGGGGTGTGGGGTGAGTGTG TGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGGGTGTCTGTGGGGGGT GAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGTCTGGGGGGTGAGTGGGGT GA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0071 a0001c0004t0071	a0001c0004t0071g0066 a0001c0004t0071g0066	1	292	0.0034	201	c.261 others(218): Show c.261+1361_261+1362insGGTGAGTGGGGTGAGTGGGGGGGGTGAG TGGGGGGTGAGTGGGGTGAGTGTGGGGTGTGAGTGGGGTGTCTGTGGGGG TGTGGGGTGAGTGTGTGGGGTGAGTGGGGTGAGTGTGGGGGGTGAGTGGG GTGTCTGTGGGGGGTGAGTGGGGTGAGTGTGGGGGTGAGTGGGGTGTCTG GGGGGTGAGTGGGGTGAGTGGGG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	3/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF223_chr1_1065967_1079306	1077271	C C	CGGGAGGC others(194): Show CGGGAGGCTGAGGCTATGGGGACTCGTGGGGGGAGGCTGAGGCTATGGGG ACCCGTGGGGGAGGCTGAGGCTATGGGGACTCCGTGGGGGGAGGGCTGAG GCTATGGGGACTCCGTGGGGGGAGCTGAGGCTATGGGGACTCCGTGGGGG GAGGCTGGGCTATGGGACTCCGTGGGGGAGGCTGAGCATGGGGACTCCGT GG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	324	0.0031	201	c.-32 others(212): Show c.-3266_-3265insCCACGGAGTCCCCATGCTCAGCCTCCCCCACGGA GTCCCATAGCCCAGCCTCCCCCCACGGAGTCCCCATAGCCTCAGCTCCCC CCACGGAGTCCCCATAGCCTCAGCCCTCCCCCCACGGAGTCCCCATAGCC TCAGCCTCCCCCACGGGTCCCCATAGCCTCAGCCTCCCCCCACGAGTCCC CATAGCCTCAGCCTCCC	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2966		chr1	TogoVar
RPA2_chr1_27886524_27919575	27917011	C C	CTCCCTCC others(194): Show CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTC CCTTCCTTCCTTCCTCCTTCCTCCCTCCCTCCCTCCTTCCTTCCTCCTTC CCTCCCTCCTTCCTTCCTTCCTCCTTCCCTCCCTCCTTCCTTCCTTCCTC CT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	201	c.-25 others(212): Show c.-2569_-2568insAGGAGGAAGGAAGGAAGGAGGGAGGGAAGGAGGA AGGAAGGAAGGAGGGAGGGAAGGAGGAAGGAAGGAGGGAGGGAGGGAGGA AGGAGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGAAGGAAGGAAGGG AGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGAAGGAAGGG AGGGAGGGAGGGAGGGA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2437		chr1	TogoVar
RPH3AL_chr17_207389_357807	253663	T T	TGTCCCTA others(194): Show TGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCA CGGTGTCTGTCCTGTTCTGTCCCTAGGAACGTGACTACCCTACGTACTTC CTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTGTT CC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0101 a0001c0001t0003g0101	1	133	0.0075	201	c.439 others(218): Show c.439-6379_439-6378insGGAACAGGACAGACGCCGTGCGGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACA GACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCT AGGGACAGAACAGGACAGACACCGTGCAGCTCCCCTCATAGGAAGTACGT AGGGTAGTCACGTTCCTAGGGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253709	C C	CGCACGGC others(194): Show CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCC TTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAC CT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0016 a0003c0011t0001g0016	1	133	0.0075	201	c.439 others(218): Show c.439-6425_439-6424insAGGTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGG ACGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	253910	C C	CGCACGGC others(194): Show CGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTTACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAA CGTGACTACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAG CT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	133	0.0075	201	c.439 others(218): Show c.439-6626_439-6625insAGCTCCCCTCATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACGCCGTGCGACTCCCCTCA TAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTAACGTTCCTAGGG ATGGAAAAGGACAGACGCCGTGC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254200	A A	ATCCCTAG others(194): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCAC GGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCC TATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAACGTGA CTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTC CG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0071 a0001c0001t0022g0071	1	133	0.0075	201	c.439 others(218): Show c.439-6916_439-6915insCGGAAAAGGACAGACACCGTGCAGCTCC CCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGAC AGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCC TAGGGATGGAAAAGGACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACG TAGGGTAGTCACGTTCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254278	C C	CGTGACTA others(194): Show CGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCC TTTTCCATCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAG CTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGT ACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCGTCCCTAGGA AT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0085 a0005c0010t0003g0085	1	133	0.0075	201	c.439 others(218): Show c.439-6994_439-6993insATTCCTAGGGACGGAAAAGGACAGACAC CGTGCAGCTCCCCTTATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGA TGGAAAAGGACAGACACCGTGCAGCTCCCCTTATAGGAAGTACGTAGGGT AGTCACGTTCCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTTA TAGGAAGTACGTAGGGTAGTCAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254378	C C	CCGCACGG others(194): Show CCGCACGGCGTCTGTCCTTTTCCATCCCTAGGAACGTGACTACCCTACGT ACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGA ACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTC CTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTCCTATGAGGGGA GT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0075 a0001c0003t0001g0075	1	133	0.0075	201	c.439 others(218): Show c.439-7094_439-7093insACTCCCCTCATAGGAAGTACGTAGGGTA GTCACATTCCTAGGGACAGAACAGGACAGACGCCGTGCGGCTCCCCTCAT AGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACGC CGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGA TGGAAAAGGACAGACGCCGTGCG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	254681	G G	GGGACTAC others(194): Show GGGACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCT TTTCCATCCCTAGGAATGGGACTACCCTACGTACTTCCTATGAGGGGAGC CGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTA CTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAA TA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	133	0.0075	201	c.439 others(218): Show c.439-7397_439-7396insTATTCCTAGGGACGGAAAAGGACAGACG CCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGG ACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGG TAGTCCCATTCCTAGGGATGGAAAAGGACAGACGCCGTGCGGCTCCCCTC ATAGGAAGTACGTAGGGTAGTCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255070	C C	CGTCCCTA others(194): Show CGTCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCA CGGTGTCTGTCCTGTTCTGTCCCTAGGAATGTGACTACCCTACGTACTTC CTATGAGGGGAGCTGCACGGTGTCTGTCCTTTTCCATCCCTAGGAATGTG ACTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGTGTCTGTCCTGTT CT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0105 a0001c0001t0006g0105	1	133	0.0075	201	c.439 others(218): Show c.439-7786_439-7785insAGAACAGGACAGACACCGTGCGGCTCCC CTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGATGGAAAAGGACA GACACCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCT AGGGACAGAACAGGACAGACACCGTGCGGCTCCCCTCATAGGAAGTACGT AGGGTAGTCACGTTCCTAGGGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255241	G G	GAGGGGAG others(194): Show GAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTA CCCTACGTACTTCCTATAAGGGGAGCTGCACGGTGTCTGTCCTTTTCCGT CCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCTGCACGG TGTCTGTCCTTTTCCATCCCTAGGAATGTGACTACCCTACGTACTTCCTA TA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0003 a0005c0010t0003	a0005c0010t0003g0085 a0005c0010t0003g0085	1	133	0.0075	201	c.439 others(218): Show c.439-7957_439-7956insTATAGGAAGTACGTAGGGTAGTCACATT CCTAGGGATGGAAAAGGACAGACACCGTGCAGCTCCCCTCATAGGAAGTA CGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGACAGACACCGTGCAGC TCCCCTTATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAG GACAGACGCCGTGCGGCTCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255391	C C	CGTCTGTC others(194): Show CGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACT ACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCTTCTGTCCTTTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACG GT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0112 a0001c0002t0007g0112	1	133	0.0075	201	c.439 others(218): Show c.439-8107_439-8106insACCGTGCAGCTCCCCTTATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAAGCCGTGCGACT CCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGG ACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATT CCTAGGGACGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255525	C C	CGTCTGTC others(194): Show CGTCTGTCCTTTTCCGTCCCTAGGAATGTGACTACCCTACGTACTTCCTA TGAGGGGAGCTGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAATGTGACT ACCCTACGTACTTCCTATGAGGGGAGTCGCACGGCTTCTGTCCTTTTCCA TCCCTAGGAACGTGACTACCCTACGTACTTCCTATAAGGGGAGCTGCACG GT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0074 a0001c0001t0035g0074	1	133	0.0075	201	c.439 others(218): Show c.439-8241_439-8240insACCGTGCAGCTCCCCTTATAGGAAGTAC GTAGGGTAGTCACGTTCCTAGGGATGGAAAAGGACAGAAGCCGTGCGACT CCCCTCATAGGAAGTACGTAGGGTAGTCACATTCCTAGGGACGGAAAAGG ACAGACGCCGTGCAGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACATT CCTAGGGACGGAAAAGGACAGAC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	255607	A A	ATCCCTAG others(194): Show ATCCCTAGGAACGTGACTACCCTACGTACTTCCTATGAGGGGAGCCGCAC GGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGACTACCCTACGTACTTCC TATGAGGGGAGCCGCACGGCGTCTGTCCTTTTCCGTCCCTAGGAACGTGA CTACCCTACGTACTTCCTATGAGGGGAGCCGCACGGCGTCTGTCCTTTTC CG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0018 a0001c0003t0018	a0001c0003t0018g0019 a0001c0003t0018g0019	1	133	0.0075	201	c.439 others(218): Show c.439-8323_439-8322insCGGAAAAGGACAGACGCCGTGCGGCTCC CCTCATAGGAAGTACGTAGGGTAGTCACGTTCCTAGGGACGGAAAAGGAC AGACGCCGTGCGGCTCCCCTCATAGGAAGTACGTAGGGTAGTCACGTTCC TAGGGACGGAAAAGGACAGACGCCGTGCGGCTCCCCTCATAGGAAGTACG TAGGGTAGTCACGTTCCTAGGGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	6/9			chr17	TogoVar

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Search Results (Total: 10000 hits)