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
PCBP3_chr21_45638725_45947450	45909792	C C	CCGGCCCA others(102): Show CCGGCCCACCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGAT ACGGACCTGGCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	292	0.0034	109	c.471 others(124): Show c.471+307_471+308insGGCCCACCCACTGCCCAGATACGGACCCCC TCCACCCACTGCCCAGATACGGACCTGGCCACCCACTGCCCAGATACGGA CCCCCCCCACCCACTGCCCAGATACGGAC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45909793	C C	CGGCCCAC others(102): Show CGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATA CGGACCTGGCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCC CAGATACGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0114 a0001c0001t0004g0114	1	292	0.0034	109	c.471 others(124): Show c.471+307_471+308insGGCCCACCCACTGCCCAGATACGGACCCCC CCCACCCACTGCCCAGATACGGACCTGGCCCACCCACTGCCCAGATACGG ACCCCCCCCACCCACTGCCCAGATACGGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17			chr21	TogoVar
PDCD6_chr5_266646_319974	318194	C C	CACCTCCC others(102): Show CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02273.hp2 HG02451.hp1 others(9): Show HG02145.hp2 HG02273.hp2 HG02451.hp1 HG02559.hp2 HG02809.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG06807.hp1 NA19240.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0002 a0001c0001t0002 a0002c0004t0002	a0001c0001t0002g0008 a0001c0001t0002g0066 a0001c0001t0002g0067 others(9): Show a0001c0001t0002g0008 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0002c0004t0002g0269	12	360	0.0333	109	c.36 others(120): Show c.3679_*3680insACCTCCCCCATCCTTCACCTCCCCCACTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3221		chr5	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(102): Show CACCTCCCCCAATCCTTCACCTCCCCCCTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0007	1	360	0.0028	109	c.37 others(120): Show c.3731_*3732insACCTCCCCCAATCCTTCACCTCCCCCCTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PDCD6_chr5_266646_319974	318246	C C	CACCTCCC others(102): Show CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00621.hp2 others(3): Show HG00408.hp1 HG00609.hp1 HG00621.hp2 NA18612.hp2 NA18966.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0033 a0001c0002t0001g0039 others(3): Show a0001c0002t0001g0007 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0045 a0001c0002t0001g0055 a0001c0002t0001g0056	6	360	0.0167	109	c.37 others(120): Show c.3731_*3732insACCTCCCCCATCCTTCACCTCCCCCACTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3273		chr5	TogoVar
PDGFD_chr11_103902189_104169147	104119003	A A	ATAATATA others(102): Show ATAATATAATATATCGATATATTATATAATATATTATATAATATATCGAT ATATTATATTAATATAATATATTAATATAATATAATATATCGATATATTA TATAATATGT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp2 HG00741.hp1 others(13): Show HG00544.hp1 HG00639.hp2 HG00741.hp1 HG01978.hp2 HG02040.hp2 HG02129.hp2 HG02559.hp1 HG03491.hp2 HG03654.hp1 HG04199.hp1 NA18966.hp2 NA18979.hp1 NA18980.hp1 NA18990.hp1 NA19012.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0002c0003t0018	a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0085 others(13): Show a0001c0001t0002g0056 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0003g0082 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0002t0001g0075 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0006g0088 a0002c0003t0018g0087	16	200	0.0800	109	c.124 others(128): Show c.124+44800_124+44801insACATATTATATAATATATCGATATAT TATATTATATTAATATATTATATTAATATAATATATCGATATATTATATA ATATATTATATAATATATCGATATATTATATTA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDIA2_chr16_278164_292215	285949	C C	CCCCAACC others(102): Show CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCT	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	436	0.0023	109	c.111 others(126): Show c.1119+306_1119+307insGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCG GTTCTCCCAACCCCGCGGTTCTCCCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806648	A A	AAGAAGGA others(102): Show AAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG ACAGACAGAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0234 a0001c0003t0001g0234	1	342	0.0029	109	c.20- others(124): Show c.20-4009_20-4008insGTCTGTCTGTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TCTCTCTC others(102): Show TCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTC TCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	426	0.0024	109	c.48 others(120): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGG GGGAGAGAGAGAGAGAGAGAGAGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(102): Show TTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCTCTCTCTCTCTCTCTC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTC TCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 NA18977.hp2 NA19055.hp2 HG00621.hp2 NA18977.hp2 NA19055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0025 a0002c0003t0001g0063 a0001c0001t0001g0001 a0001c0001t0001g0025 a0002c0003t0001g0063	3	426	0.0070	109	c.48 others(120): Show c.4863_*4864insGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGA GGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(102): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTATCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCTCTCTC TCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	426	0.0024	109	c.48 others(120): Show c.4863_*4864insGAGAGAGAGAGAGAGAGGAGAGGGAGAGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGATAGAGAGAGAGAGAGGGAGAG AGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(102): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTC TCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp2 NA19059.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	426	0.0024	109	c.48 others(120): Show c.4863_*4864insGAGAGAGAGAGAGAGGGAGAGGGAGAGGGAGGGG GAGGGGGAGGGGGAGGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAG AGGGGGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(102): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCTCTCTCTCTCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTC TCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG03669.hp1 HG01192.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	426	0.0047	109	c.48 others(120): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGAGG GGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGG GGGGAGAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PGAP6_chr16_365788_386978	378184	A A	ACCCGCAC others(102): Show ACCCGCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCAT CGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTG CCATCGCCAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA18950.hp2 HG02145.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0136 a0002c0002t0001g0139	2	376	0.0053	109	c.122 others(124): Show c.122-337_122-336insGTGGCGATGGCAGTGCGGGTGGGGATGGCA GTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTCAGAGTGGCGAT GGCAGTGCGGGTGGCGATGGCAGTGCGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PGM2L1_chr11_74325316_74403433	74402404	T T	TATATATT others(102): Show TATATATTATATATTATAATATATATAACATATATTATATATTATAATAT ATATAACATATATTATATATAATATATAATATATGTTATATATATTATAA TATATATAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0038 a0003c0003t0006g0038	1	380	0.0026	109	c.-42 others(120): Show c.-4244_-4243insGTTATATATATTATAATATATATAACATATATTA TATATTATATATAATATATGTTATATATATTATAATATATAATATATGTT ATATATATTATAATATATAATATAT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding		3972		chr11	TogoVar
PKP3_chr11_389209_409908	401460	C C	CCCCGCTC others(102): Show CCCCGCTCACCCCCGGCCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGC TCACCCCCGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0152 a0001c0003t0001g0152	1	216	0.0046	109	c.173 others(126): Show c.1737+764_1737+765insCCCCGGCCCCCGCTCACACCCGCCCCGC TCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CACCCGCCCCGCTCACCCCCGGCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PNMA5_chrX_152983824_152999116	152998615	A A	AATATATA others(102): Show AATATATATTATATATTATATATTATATTATATATATAATATATATTATA TAATATATATTATTTATATAATATATATTATATAATATATATTATTTATA TAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	286	0.0035	109	c.-49 others(120): Show c.-4913_-4912insATATATATTATATAAATAATATATATTATATAAT ATATATTATATAAATAATATATATTATATAATATATATTATATATATAAT ATAATATATAATATATAATATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4500		chrX	TogoVar
PPFIA2_chr12_81252975_81764350	81642703	T T	TATAATAT others(102): Show TATAATATATACATGTATGTATGTATATATTATATACATACATGTATATA TTATATACATACATGTATATAATATATACATACATGTATATGTATGTATA TATTATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG00639.hp2 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0024 a0001c0002t0003g0005 a0001c0002t0003g0024	2	168	0.0119	109	c.303 others(128): Show c.303+34087_303+34088insGTATATAATATATACATACATATACA TGTATGTATATATTATATACATGTATGTATATAATATATACATGTATGTA TATAATATATACATACATACATGTATATATTAT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PPP1R16B_chr20_38800697_38928024	38895766	A A	ACTTCCTT others(102): Show ACTTCCTTCTTTCTCTCCTCCCTTCCTCCCTTCCTTCTTTCTCTCCTCCC TCCCTCCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCC TCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0032 a0001c0002t0002g0032	1	244	0.0041	109	c.467 others(122): Show c.467+78_467+79insTCCTCCCTTCCTTCTTTCTCTCCTCCCTCCCT CCTTCCTTCTTTCTCTCCTCCCTTCCTCCTTCCTTCTTTCTCTCCTCCCT TCCTCCTTCCTTCTTTCTCTCCTCCCT	PPP1R16B	ENSG00000101445.10	transcript	ENST00000299824.6	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
PRDM15_chr21_41793225_41884344	41806459	C C	CGCCTCCT others(102): Show CGCCTCCTCCATCACTATCATTACCCTCATCACCACCAACACTGTCACCA CCATCATCAGTACCACTACCACCACGTGGCATCACCACCACTGCCATTCC TATCACCACT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0001 a0001c0043t0001	a0001c0043t0001g0291 a0001c0043t0001g0291	1	406	0.0025	109	c.265 others(128): Show c.2653-1846_2653-1845insAGTGGTGATAGGAATGGCAGTGGTGG TGATGCCACGTGGTGGTAGTGGTACTGATGATGGTGGTGACAGTGTTGGT GGTGATGAGGGTAATGATAGTGATGGAGGAGGC	PRDM15	ENSG00000141956.14	transcript	ENST00000398548.6	protein_coding	21/23			chr21	TogoVar
PRIM2_chr6_57312630_57651850	57470404	T T	TCCCCTCT others(102): Show TCCCCTCTCCCCCTCTCCCCCTCTCCCCCCTCTCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTC TCCCCCTCTC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	300	0.0033	109	c.694 others(128): Show c.694-36964_694-36963insCTCTCCCCCCTCTCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCCCCTCTCCCCCTCTCC CCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC	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(102): Show TTTTTTTTATTTTTTTTATTTTTTTTTATTTTTTTATTTTATTTTTTTTT ATTTTATTTTTTATTTTATGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG TTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0123 a0001c0002t0026g0123	1	178	0.0056	109	c.206 others(124): Show c.206-640_206-639insTTTTATTTTTTTTATTTTTTTTTATTTTTT TATTTTATTTTTTTTTATTTTATTTTTTATTTTATGTTTTGTTTTGTTTT GTTTTGTTTTGTTTTGTTTTGTTTTGTTT	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66799481	G G	GTGGTGGT others(102): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGGTGGTGGTGATGGTGGTG GTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0085 a0001c0001t0022g0085	1	178	0.0056	109	c.185 others(128): Show c.1855-4390_1855-4389insGTGGTGGTGGTGATGGTGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGGTGGTGGTGATGGTGGTGGTGGTGGTGATG	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKX_chrX_3599340_3718649	3639498	A A	ACATGGAT others(102): Show ACATGGATGGATGAAGGAGTGGGTGGGTGGATGGATGAAGGGGTGGGGGT GGATGGATGAAGGGGTGGGGGGGTGGATGGATGAAGGGGTAGGGGGTGGG GGAGTGGGTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02602.hp1 HG00733.hp2 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0032 a0002c0004t0012 a0002c0003t0032 a0002c0004t0012	a0002c0003t0032g0184 a0002c0004t0012g0217 a0002c0003t0032g0184 a0002c0004t0012g0217	2	227	0.0088	109	c.719 others(126): Show c.719+2353_719+2354insCACCCACTCCCCCACCCCCTACCCCTTC ATCCATCCACCCCCCCACCCCTTCATCCATCCACCCCCACCCCTTCATCC ATCCACCCACCCACTCCTTCATCCATCCATG	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PROZ_chr13_113153648_113177386	113154341	G G	GGGGCGCG others(102): Show GGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGGCGGG CCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGGC ACGTGACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	378	0.0027	109	c.-43 others(120): Show c.-4320_-4319insGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGGG GCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTC GGGGAGGGCAGGGGCACGTGACGCA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4306		chr13	TogoVar
PSD3_chr8_18522303_19018703	18594254	T T	TATAATAT others(102): Show TATAATATATATTATATATAATAATATATATTATTATATATATTATATAA TATATATTATATATAATAATATATATTATTATATATATTATATAATATAT ATTATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0146 a0001c0001t0025g0146	1	228	0.0044	109	c.248 others(128): Show c.2481+6109_2481+6110insTATATATAATATATATTATATAATAT ATATAATAATATATATTATTATATATAATATATATTATATAATATATATA ATAATATATATTATTATATATAATATATATTAT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	12/15			chr8	TogoVar
PSD3_chr8_18522303_19018703	18949244	A A	AAAAAAAA others(102): Show AAAAAAAAAAAAAAATATATATATATATATATATATATACACATATATAT ATATATATATACACATATATATATATATATACACATATATATATATATAT ATACACATAT	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0067 a0002c0003t0067	a0002c0003t0067g0138 a0002c0003t0067g0138	1	228	0.0044	109	c.22- others(126): Show c.22-13103_22-13102insATATGTGTATATATATATATATATATGT GTATATATATATATATATGTGTATATATATATATATATATGTGTATATAT ATATATATATATATATATTTTTTTTTTTTTT	PSD3	ENSG00000156011.19	transcript	ENST00000327040.13	protein_coding	1/15			chr8	TogoVar
PSME4_chr2_53859069_53975993	53940932	C C	CATATTTA others(102): Show CATATTTAAATATATATATATAATACATATTTAAATATATATATATAATA CATATTTAAATATATATATATAATACATATTTAAATATATATATATATAT ACATATTTAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0145 a0002c0003t0002g0145	1	384	0.0026	109	c.501 others(124): Show c.501-933_501-932insTTAAATATGTATATATATATATATATTTAA ATATGTATTATATATATATATTTAAATATGTATTATATATATATATTTAA ATATGTATTATATATATATATTTAAATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PXDN_chr2_1626887_1749515	1711551	T T	TCTCCACC others(102): Show TCTCCACCAGCACCCACTCCACCAGCACCCACTCTCCACCAGCACCCGCT CCACCAGCACCCGCTCCACCAGCACCCACTCTCCACCAGCACCCACTCCA CCAGCATCCA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0161 a0001c0005t0007g0161	1	322	0.0031	109	c.201 others(128): Show c.201-18418_201-18417insTGGATGCTGGTGGAGTGGGTGCTGGT GGAGAGTGGGTGCTGGTGGAGCGGGTGCTGGTGGAGCGGGTGCTGGTGGA GAGTGGGTGCTGGTGGAGTGGGTGCTGGTGGAG	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
QRFPR_chr4_121323642_121386018	121365511	T T	TAATATAT others(102): Show TAATATATATAATATATATTATATATATATAATATATATATTATATATTA TTATATATTATATATATAATATATAATATATTATATATTATATATTATAT ATAATATATA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0015 a0002c0009t0015	a0002c0009t0015g0163 a0002c0009t0015g0163	1	384	0.0026	109	c.340 others(128): Show c.340+14796_340+14797insTATATATTATATATAATATATAATAT ATAATATATTATATATTATATATATAATATATAATAATATATAATATATA TATTATATATATATAATATATATTATATATATT	QRFPR	ENSG00000186867.11	transcript	ENST00000394427.3	protein_coding	1/5			chr4	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(102): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGG GGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01099.hp2 HG01106.hp2 others(31): Show HG00438.hp2 HG01099.hp2 HG01106.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp1 HG01943.hp1 HG01943.hp2 HG02015.hp1 HG02129.hp1 HG02165.hp1 HG02273.hp2 HG02300.hp2 HG02559.hp1 HG02698.hp1 HG02818.hp2 HG02922.hp1 HG03239.hp1 HG03540.hp2 HG03710.hp2 HG03831.hp1 NA18952.hp1 NA18975.hp2 NA18992.hp2 NA18993.hp2 NA19009.hp2 NA19043.hp1 NA19055.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(7): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0035 a0001c0001t0041	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 others(31): Show a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0177 a0001c0001t0009g0149 a0001c0001t0009g0152 a0001c0001t0009g0158 a0001c0001t0010g0109 a0001c0001t0010g0110 a0001c0001t0010g0141 a0001c0001t0021g0135 a0001c0001t0022g0097 a0001c0001t0027g0156 a0001c0001t0027g0157 a0001c0001t0028g0187 a0001c0001t0032g0186 a0001c0001t0035g0049 a0001c0001t0041g0105	34	400	0.0850	109	c.-34 others(120): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCCACCCCCTCCCCCTCCCCCCACCCCCTCCCTTCCCCC CTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(102): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGAGGGGGGAGGGGGGTGGGGGGAGGGGGGAGGG GGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00558.hp2 HG01169.hp1 others(20): Show HG00280.hp2 HG00558.hp2 HG01169.hp1 HG01175.hp1 HG01516.hp2 HG01928.hp2 HG02074.hp2 HG02293.hp2 HG02523.hp2 HG02896.hp1 HG03704.hp1 NA18612.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp2 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18989.hp1 NA19012.hp2 NA19068.hp2 NA19089.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 others(8): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0031 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054	a0001c0001t0003g0048 a0001c0001t0003g0065 a0001c0001t0003g0068 others(20): Show a0001c0001t0003g0048 a0001c0001t0003g0065 a0001c0001t0003g0068 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0160 a0001c0001t0005g0047 a0001c0001t0005g0073 a0001c0001t0005g0077 a0001c0001t0005g0086 a0001c0001t0005g0091 a0001c0001t0006g0087 a0001c0001t0006g0100 a0001c0001t0007g0076 a0001c0001t0007g0081 a0001c0001t0007g0150 a0001c0001t0012g0078 a0001c0001t0014g0092 a0001c0001t0016g0102 a0001c0001t0031g0072 a0001c0001t0048g0088 a0001c0001t0053g0084 a0001c0001t0054g0074	23	400	0.0575	109	c.-34 others(120): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCC TCCCCCCTCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCC CTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	952995	A A	AGGGGGAA others(102): Show AGGGGGAAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGTGGGGGGA GGGGGGAGGGGGTGGGGGGAGGGGGGAGGGGGGTGGGGGAGGGGGGAGGG GGTGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	400	0.0025	109	c.-34 others(120): Show c.-3413_-3412insCTCCCCCACCCCCTCCCCCCTCCCCCACCCCCCT CCCCCCTCCCCCCACCCCCTCCCCCCTCCCCCCACCCCCTCCCTTCCCCC CTCCCCCCACCCCCTCCCTTCCCCC	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3302		chr12	TogoVar
RAD52_chr12_906736_954694	953001	A A	AAGGGAGG others(102): Show AAGGGAGGGGGTGGGGGGAGGGGGGAAGGGAGGGGGGTGGGGGGAGGGGG AGGGGGTGGGGGGGGGGGGGGGGGGGGGGGAGGGGGAGGGGGTGGGGGGG AGGGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0124 a0001c0001t0009g0124	1	400	0.0025	109	c.-34 others(120): Show c.-3419_-3418insCTCCCCCCCTCCCCCCCACCCCCTCCCCCTCCCC CCCCCCCCCCCCCCCCCCCACCCCCTCCCCCTCCCCCCACCCCCCTCCCT TCCCCCCTCCCCCCACCCCCTCCCT	RAD52	ENSG00000002016.18	transcript	ENST00000358495.8	protein_coding		3308		chr12	TogoVar
RADIL_chr7_4792055_4888716	4886300	A A	ATATATAT others(102): Show ATATATATATATGTATATATACATATATATATGTGTGTATATATATATAT ATACATATATATATGTGTATATATATATATATATATATATATACATATAT ATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0016 a0003c0005t0016	a0003c0005t0016g0168 a0003c0005t0016g0168	1	292	0.0034	109	c.-27 others(120): Show c.-2770_-2769insAAATATATATATATATGTATATATATATATATAT ATATATATACACATATATATATGTATATATATATATATACACACATATAT ATATGTATATATACATATATATATA	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2585		chr7	TogoVar
RADIL_chr7_4792055_4888716	4886301	T T	TGTATATA others(102): Show TGTATATATATATGTATATATACATATATATATATATGTGTATATATATA TGTATATATACATATATATGTATATATACATATATATATACACATATATA TATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02922.hp1 HG03225.hp1 HG02055.hp1 HG02922.hp1 HG03225.hp1	a0001 a0013 a0001 a0013	a0001c0041 a0013c0017 a0001c0041 a0013c0017	a0001c0041t0009 a0013c0017t0024 a0001c0041t0009 a0013c0017t0024	a0001c0041t0009g0128 a0013c0017t0024g0125 a0013c0017t0024g0126 a0001c0041t0009g0128 a0013c0017t0024g0125 a0013c0017t0024g0126	3	292	0.0103	109	c.-27 others(120): Show c.-2771_-2770insTATATATATATATATATGTGTATATATATATGTA TATATACATATATATGTATATATACATATATATATACACATATATATATA TATGTATATATACATATATATATAC	RADIL	ENSG00000157927.17	transcript	ENST00000399583.4	protein_coding		2586		chr7	TogoVar
RAE1_chr20_57346255_57384202	57350857	C C	CGGGGGAC others(102): Show CGGGGGACGGGGGACGGGGGACGGGGGGCGGGGGGGACGGGGGACGGGGG GCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGACGGGGGGCGGGGGGG GCGGGGGCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	342	0.0029	109	c.-57 others(118): Show c.-573_-572insGGGGGACGGGGGACGGGGGACGGGGGGCGGGGGGGA CGGGGGACGGGGGGCGGGGGGGGCGGGGGGGACGGGGGGCGGGGGGGACG GGGGGCGGGGGGGGCGGGGGCCG	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding		397		chr20	TogoVar
RAE1_chr20_57346255_57384202	57357840	G G	GGGCCATG others(102): Show GGGCCATGATGATAGGAGCAGTCAGAGGAATTCTTGTGATGAGTATGTGT AAGTTAAATGAGCTGCTTATCAGTAGAACTGATAGCTGGATAATAGCTAG GGTGACTTCA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp2 HG03225.hp2 HG02572.hp1 HG02886.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0017 a0001c0002t0008g0017	3	342	0.0088	109	c.288 others(126): Show c.288+1303_288+1411dupGGCCATGATGATAGGAGCAGTCAGAGGA ATTCTTGTGATGAGTATGTGTAAGTTAAATGAGCTGCTTATCAGTAGAAC TGATAGCTGGATAATAGCTAGGGTGACTTCA	RAE1	ENSG00000101146.13	transcript	ENST00000395841.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RASA3_chr13_113972783_114137623	114005778	C C	CCCTCCTG others(102): Show CCCTCCTGCCCTGCCGGACACCACATTACCTTTTCTCCCCTCCTGCCCTG CCGGATGCCACCTTACCCTTCTCCCCCCTCCTGCCCTGCCGGACACCACC TTACCCTTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0052 a0001c0010t0002g0052	1	67	0.0149	109	c.174 others(128): Show c.1742+1754_1742+1755insAGAAGGGTAAGGTGGTGTCCGGCAGG GCAGGAGGGGGGAGAAGGGTAAGGTGGCATCCGGCAGGGCAGGAGGGGAG AAAAGGTAATGTGGTGTCCGGCAGGGCAGGAGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044051	C C	CCGCCCCG others(102): Show CCGCCCCGCCTCACTCGCTGAGCCCCCCGCCCCGCCTCACTCGCTGAGCT CCCCCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCCTCACTCGCT GAGCCCCCCG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0048 a0001c0009t0008g0048	1	67	0.0149	109	c.278 others(126): Show c.278-2958_278-2957insCGGGGGGCTCAGCGAGTGAGGCGGGGCG GGGGGGGGGCTCAGCGAGTGAGGCGGGGGGGGAGCTCAGCGAGTGAGGCG GGGCGGGGGGCTCAGCGAGTGAGGCGGGGCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114044355	C C	CCCCCCGC others(102): Show CCCCCCGCCCCGCCTCACTCGCTGAGCCCCCCCCCCGCCCCGCCTCACTC GCTGAGCTCCCCCCCCCCCGCCTCACTCGCTGAGCTCCCCCACCCGCCTC ACTCGCTGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	67	0.0149	109	c.278 others(126): Show c.278-3262_278-3261insCTCAGCGAGTGAGGCGGGTGGGGGAGCT CAGCGAGTGAGGCGGGGGGGGGGGAGCTCAGCGAGTGAGGCGGGGCGGGG GGGGGGCTCAGCGAGTGAGGCGGGGCGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	3/23			chr13	TogoVar
RASA3_chr13_113972783_114137623	114119840	T T	TCTCTCCA others(102): Show TCTCTCCAGCCAGGCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCAG GCGTCGATCAGGGCCCCCCCTCCCTCTCTCCAGCCAGGCGTCGATCAGCG CCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01993.hp1 HG01993.hp2 others(2): Show HG01361.hp2 HG01993.hp1 HG01993.hp2 HG02148.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(2): Show a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 a0001c0003t0003g0022 a0001c0003t0003g0030	5	67	0.0746	109	c.55+ others(126): Show c.55+12594_55+12595insGGGAGGGGGGCGCTGATCGACGCCTGGC TGGAGAGAGGGAGGGGGGGCCCTGATCGACGCCTGGCTGGAGAGAGGGAG GGGGGGCCCTGATCGACGCCTGGCTGGAGAG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBBP6_chr16_24534566_24577863	24575261	C C	CGCTCCTC others(102): Show CGCTCCTCACTTCCCAGACTGGGCAGCTGGACAGAGGGGCTCCTCACATC CCAGAGGATGGGTGGCCAGGCAGAGACGCTCCTCACTTCCCAGACAGGGT GGCGGCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0090 a0001c0002t0004g0090	1	336	0.0030	109	c.28 others(120): Show c.2816_*2817insGCTCCTCACTTCCCAGACTGGGCAGCTGGACAGA GGGGCTCCTCACATCCCAGAGGATGGGTGGCCAGGCAGAGACGCTCCTCA CTTCCCAGACAGGGTGGCGGCTGGG	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		2399		chr16	TogoVar
RBFOX3_chr17_79084345_79616051	79611130	T T	TCTCTCTC others(102): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCGCCCTCCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0027 a0001c0001t0014g0027	1	154	0.0065	109	c.-62 others(118): Show c.-625_-624insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGGAGGGCGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding		80		chr17	TogoVar
RFLNA_chr12_124290093_124321024	124296124	C C	CTTTTCTT others(102): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTC TTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0273 a0001c0001t0012g0273	1	388	0.0026	109	c.207 others(124): Show c.207+489_207+490insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTC TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296139	T T	TTTCTTTC others(102): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTTTCTCTCTC TCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0264 a0001c0004t0002g0264	1	388	0.0026	109	c.207 others(124): Show c.207+504_207+505insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTTTTTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTCTTTTCTTTTCT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296147	T T	TCTTTCTT others(102): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTC TCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	388	0.0026	109	c.207 others(124): Show c.207+511_207+512insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296156	C C	CTTTCTTT others(102): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCT CTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0286 a0001c0001t0001g0286	1	388	0.0026	109	c.207 others(124): Show c.207+522_207+523insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTT	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296162	T T	TCTTTCTT others(102): Show TCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTCTCTT TCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	388	0.0026	109	c.207 others(124): Show c.207+526_207+527insCTTTCTTTCTTTCTTTCTTTCTCTCTCTCT TTCTCTCTCTCTCTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar
RFLNA_chr12_124290093_124321024	124296167	T T	TCTTTCTT others(102): Show TCTTTCTTTCTCTCTCTCTTTCTCTCTCTCTCTCTCTTTCTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0235 a0001c0001t0005g0236	2	388	0.0052	109	c.207 others(124): Show c.207+531_207+532insCTTTCTTTCTCTCTCTCTTTCTCTCTCTCT CTCTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTC	RFLNA	ENSG00000178882.15	transcript	ENST00000546355.4	protein_coding	1/2			chr12	TogoVar

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