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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
PFKFB3_chr10_6197932_6240532	6208371	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp2 HG03516.hp2 others(4): Show HG01074.hp2 HG01099.hp2 HG03516.hp2 NA18991.hp2 NA19082.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0011 a0001c0001 a0001c0002 a0004c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0064 a0001c0001t0090 a0001c0002t0081 a0004c0011t0007	a0001c0001t0001g0306 a0001c0001t0003g0265 a0001c0001t0016g0268 others(4): Show a0001c0001t0001g0306 a0001c0001t0003g0265 a0001c0001t0016g0268 a0001c0001t0064g0269 a0001c0001t0090g0305 a0001c0002t0081g0359 a0004c0011t0007g0052	7	432	0.0162	17	c.76+ others(32): Show c.76+5041_76+5057dupTTTTTTTTTTTTTTTTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKL_chr21_44295053_44332373	44303441	A A	AAAAAAAA others(10): Show AAAAAAAAGACTTGATCG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02717.hp2 HG03516.hp1 others(3): Show HG00735.hp2 HG02717.hp2 HG03516.hp1 HG03540.hp2 NA18522.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0002c0003t0001 a0001c0001t0002 a0001c0001t0004 a0002c0003t0001	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0112 others(3): Show a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0112 a0001c0001t0004g0048 a0001c0001t0004g0053 a0002c0003t0001g0292	6	392	0.0153	17	c.86- others(32): Show c.86-3233_86-3232insGACTTGATCGAAAAAAA	PFKL	ENSG00000141959.17	transcript	ENST00000349048.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr21	TogoVar
PFKP_chr10_3062548_3141802	3093638	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp2 HG06807.hp1 HG01243.hp1 HG02818.hp2 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0023 a0001c0024 a0001c0004 a0001c0023 a0001c0024	a0001c0004t0004 a0001c0023t0015 a0001c0024t0009 a0001c0004t0004 a0001c0023t0015 a0001c0024t0009	a0001c0004t0004g0234 a0001c0023t0015g0386 a0001c0024t0009g0168 a0001c0004t0004g0234 a0001c0023t0015g0386 a0001c0024t0009g0168	3	402	0.0075	17	c.187 others(34): Show c.187-5630_187-5614dupTTTTTTTTTTTTTTTTT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3095232	C C	CCGCGCAT others(10): Show CCGCGCATAGGTGAACTA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02004.hp1 HG02145.hp2 others(8): Show HG01981.hp2 HG02004.hp1 HG02145.hp2 HG02300.hp1 HG02922.hp1 NA18951.hp2 NA18979.hp2 NA19010.hp2 NA19058.hp2 NA19077.hp1 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0005 others(3): Show a0001c0003 a0001c0004 a0001c0005 a0001c0009 a0001c0022 a0001c0044	a0001c0003t0001 a0001c0004t0003 a0001c0004t0008 others(5): Show a0001c0003t0001 a0001c0004t0003 a0001c0004t0008 a0001c0005t0003 a0001c0009t0001 a0001c0009t0014 a0001c0022t0001 a0001c0044t0009	a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0004t0003g0090 others(8): Show a0001c0003t0001g0088 a0001c0003t0001g0092 a0001c0004t0003g0090 a0001c0004t0003g0142 a0001c0004t0008g0087 a0001c0004t0008g0328 a0001c0005t0003g0186 a0001c0009t0001g0091 a0001c0009t0014g0086 a0001c0022t0001g0294 a0001c0044t0009g0181	11	402	0.0274	17	c.187 others(34): Show c.187-4042_187-4041insGCGCATAGGTGAACTAC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3100862	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG02647.hp1 HG02965.hp1	a0001 a0001	a0001c0008 a0001c0014 a0001c0008 a0001c0014	a0001c0008t0005 a0001c0014t0006 a0001c0008t0005 a0001c0014t0006	a0001c0008t0005g0342 a0001c0014t0006g0213 a0001c0008t0005g0342 a0001c0014t0006g0213	2	402	0.0050	17	c.265 others(32): Show c.265-499_265-483dupAAAAAAAAAAAAAAAAA	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3118183	C C	CAATTATT others(10): Show CAATTATTGGGCACGGCG	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0320 a0001c0001t0003g0320	1	402	0.0025	17	c.144 others(34): Show c.1443-598_1443-582dupAATTATTGGGCACGGCG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	14/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGAP1_chr2_196828004_196931707	196832775	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	188	0.0053	17	c.84 others(28): Show c.8458_*8459insAAATAAAAAAAAAAAAA	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		228		chr2	TogoVar
PGAP1_chr2_196828004_196931707	196832775	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02723.hp1 others(6): Show HG01891.hp1 HG02622.hp2 HG02723.hp1 HG03492.hp2 HG03834.hp1 HG04184.hp1 NA18970.hp1 NA19003.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0137 a0001c0001t0002g0138 others(5): Show a0001c0001t0002g0007 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0164	9	188	0.0479	17	c.84 others(28): Show c.8458_*8459insAAAAAAAAAAAAAAAAA	PGAP1	ENSG00000197121.15	transcript	ENST00000354764.9	protein_coding		228		chr2	TogoVar
PGAP3_chr17_39666122_39693057	39691556	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0044 a0001c0001t0010g0044	1	376	0.0027	17	c.-35 others(28): Show c.-3543_-3542insATATTTTTTTTTTTTTT	PGAP3	ENSG00000161395.14	transcript	ENST00000300658.9	protein_coding		3500		chr17	TogoVar
PGK1_chrX_78099248_78134295	78127630	G G	GCTATAGA others(10): Show GCTATAGATGCTTCTAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0002 a0001c0001t0053g0002	1	308	0.0033	17	c.18 others(28): Show c.1803_*1819dupATAGATGCTTCTAGACT	PGK1	ENSG00000102144.15	transcript	ENST00000373316.5	protein_coding	11/11	1820	INFO_REALIGN_3_PRIME	chrX	TogoVar
PGLYRP2_chr19_15463645_15484501	15467838	T T	TTTTCCTT others(10): Show TTTTCCTTCCTTCCTTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02257.hp1 HG00280.hp1 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0150 a0002c0002t0001g0060 a0001c0001t0001g0150 a0002c0002t0001g0060	2	382	0.0052	17	c.82 others(26): Show c.824_*825insGGAAGGAAGGAAGGAAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		806		chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15477707	T T	TAAAAATA others(10): Show TAAAAATAAATAAAATTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0121 a0004c0004t0001g0121	1	382	0.0026	17	c.62- others(32): Show c.62-1100_62-1099insTAATTTTATTTATTTTT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	1/4			chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15482612	C C	CTTCCTTC others(10): Show CTTCCTTCCTTCCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	382	0.0026	17	c.-32 others(28): Show c.-3242_-3241insAGAAAGGAAGGAAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3112		chr19	TogoVar
PGLYRP3_chr1_153292116_153317952	153297532	A A	AAAGAAAA others(10): Show AAAGAAAAAGAAAGAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0109 a0002c0002t0109	a0002c0002t0109g0137 a0002c0002t0109g0137	1	434	0.0023	17	c.42 others(26): Show c.423_*424insCTTTCTTTCTTTTTCTT	PGLYRP3	ENSG00000159527.4	transcript	ENST00000683862.1	protein_coding	8/8	423		chr1	TogoVar
PGLYRP4_chr1_153325120_153353841	153350648	A A	AGAAAGAA others(10): Show AGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	392	0.0026	17	c.-21 others(28): Show c.-2168_-2167insCTTTCTTTCTTTCTTTC	PGLYRP4	ENSG00000163218.15	transcript	ENST00000359650.10	protein_coding		1808		chr1	TogoVar
PGM2L1_chr11_74325316_74403433	74355553	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	380	0.0026	17	c.556 others(34): Show c.556-3994_556-3978dupTTTTTTTTTTTTTTTTT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	5/13			chr11	TogoVar
PGM2L1_chr11_74325316_74403433	74389947	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03492.hp2 HG04204.hp2 others(1): Show HG00642.hp2 HG03492.hp2 HG04204.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0004 a0004c0005 a0001c0004 a0004c0005	a0001c0004t0016 a0004c0005t0014 a0004c0005t0046 a0001c0004t0016 a0004c0005t0014 a0004c0005t0046	a0001c0004t0016g0264 a0004c0005t0014g0124 a0004c0005t0014g0125 others(1): Show a0001c0004t0016g0264 a0004c0005t0014g0124 a0004c0005t0014g0125 a0004c0005t0046g0126	4	380	0.0105	17	c.111 others(34): Show c.111+8087_111+8103dupTTTTTTTTTTTTTTTTT	PGM2L1	ENSG00000165434.8	transcript	ENST00000298198.5	protein_coding	1/13			chr11	TogoVar
PGM2_chr4_37821686_37867937	37841158	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0008 a0008	a0008c0015 a0008c0015	a0008c0015t0001 a0008c0015t0001	a0008c0015t0001g0385 a0008c0015t0001g0385	1	446	0.0022	17	c.719 others(32): Show c.719+899_719+900insGTGTGTGTGTGTGTGTG	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13			chr4	TogoVar
PGM2_chr4_37821686_37867937	37841188	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02559.hp1 HG02559.hp2 others(12): Show HG00738.hp1 HG02559.hp1 HG02559.hp2 HG02735.hp1 HG02922.hp1 HG03130.hp1 NA18949.hp2 NA18954.hp1 NA18963.hp2 NA18993.hp2 NA19006.hp1 NA19012.hp2 NA19057.hp2 NA19060.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0003 a0001c0002 a0001c0004 a0002c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 others(3): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0010 a0001c0004t0001 a0002c0003t0008	a0001c0002t0002g0042 a0001c0002t0002g0059 a0001c0002t0002g0070 others(12): Show a0001c0002t0002g0042 a0001c0002t0002g0059 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0095 a0001c0002t0002g0096 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0003g0116 a0001c0002t0009g0112 a0001c0002t0010g0115 a0001c0004t0001g0074 a0001c0004t0001g0388 a0002c0003t0008g0038	15	446	0.0336	17	c.719 others(32): Show c.719+929_719+930insTGTGTGTGTGTGTGTGT	PGM2	ENSG00000169299.14	transcript	ENST00000381967.9	protein_coding	6/13			chr4	TogoVar
PGM5_chr9_68351611_68536061	68376834	T T	TTTCTCTT others(10): Show TTTCTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG03942.hp2 others(4): Show HG00438.hp1 HG00738.hp1 HG03942.hp2 NA18972.hp2 NA18975.hp1 NA19004.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0008 a0001c0002t0002 a0001c0002t0008	a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 others(4): Show a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0066 a0001c0002t0002g0083 a0001c0002t0008g0065	7	246	0.0285	17	c.262 others(34): Show c.262-1365_262-1364insTTCTCTTTCTTTCTTTC	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10			chr9	TogoVar
PGM5_chr9_68351611_68536061	68376835	C C	CTTTCTTT others(10): Show CTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG02647.hp1 others(2): Show HG00323.hp2 HG01081.hp1 HG02647.hp1 HG03209.hp2 NA19056.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0008 a0001c0001 a0001c0003 a0002c0008	a0001c0001t0018 a0001c0003t0014 a0001c0003t0015 others(1): Show a0001c0001t0018 a0001c0003t0014 a0001c0003t0015 a0002c0008t0029	a0001c0001t0018g0085 a0001c0003t0014g0017 a0001c0003t0015g0013 others(2): Show a0001c0001t0018g0085 a0001c0003t0014g0017 a0001c0003t0015g0013 a0001c0003t0015g0020 a0002c0008t0029g0234	5	246	0.0203	17	c.262 others(34): Show c.262-1363_262-1347dupTTTCTTTCTTTCTTTCT	PGM5	ENSG00000154330.13	transcript	ENST00000396396.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PGPEP1_chr19_18335598_18374950	18338732	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp1 HG03927.hp1 HG03688.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0172 a0001c0001t0100 a0001c0001t0172	a0001c0001t0100g0110 a0001c0001t0172g0111 a0001c0001t0100g0110 a0001c0001t0172g0111	2	412	0.0049	17	c.-19 others(28): Show c.-1950_-1949insAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding		1865		chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18352266	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0218 a0001c0001t0028g0218	1	412	0.0024	17	c.88- others(32): Show c.88-3624_88-3608dupAAAAAAAAAAAAAAAAA	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18363033	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0263 a0001c0001t0044g0263	1	412	0.0024	17	c.438 others(32): Show c.438-358_438-357insGTGTGTGTGTGTGTGTG	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	4/4			chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18363060	T T	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0192 a0001c0001t0192	a0001c0001t0192g0103 a0001c0001t0192g0103	1	412	0.0024	17	c.438 others(32): Show c.438-323_438-322insGTGTGTGTGGTGTGTGT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PGPEP1_chr19_18335598_18374950	18364083	G G	GCTTTTCT others(10): Show GCTTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG01099.hp2 HG02080.hp1 others(19): Show HG00408.hp1 HG01099.hp2 HG02080.hp1 HG02129.hp1 HG02602.hp2 HG03017.hp1 HG03834.hp2 HG03927.hp1 HG04228.hp1 HG06807.hp2 NA18982.hp1 NA18989.hp2 NA19009.hp2 NA19010.hp2 NA19057.hp2 NA19064.hp2 NA19079.hp1 NA19081.hp1 NA19083.hp2 NA19087.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 others(16): Show a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0069 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0003t0103	a0001c0001t0024g0196 a0001c0001t0024g0261 a0001c0001t0025g0021 others(19): Show a0001c0001t0024g0196 a0001c0001t0024g0261 a0001c0001t0025g0021 a0001c0001t0025g0192 a0001c0001t0026g0215 a0001c0001t0026g0222 a0001c0001t0069g0229 a0001c0001t0071g0228 a0001c0001t0072g0278 a0001c0001t0073g0243 a0001c0001t0100g0110 a0001c0001t0101g0345 a0001c0001t0102g0022 a0001c0001t0104g0109 a0001c0001t0105g0251 a0001c0001t0106g0238 a0001c0001t0107g0281 a0001c0001t0108g0022 a0001c0001t0109g0217 a0001c0001t0110g0216 a0001c0001t0111g0260 a0001c0003t0103g0174	22	412	0.0534	17	c.50 others(26): Show c.504_*505insTCTTTCTTTCTTTCTTT	PGPEP1	ENSG00000130517.14	transcript	ENST00000269919.11	protein_coding	5/5	505	INFO_REALIGN_3_PRIME	chr19	TogoVar
PGR_chr11_101024624_101134813	101046292	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0199 a0001c0003t0002g0199	1	254	0.0039	17	c.248 others(36): Show c.2488+3620_2488+3636dupAAAAAAAAAAAAAAAAA	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	6/7			chr11	TogoVar
PGR_chr11_101024624_101134813	101107865	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02109.hp1 HG02647.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0052 a0003c0005t0006 a0003c0005t0052	a0003c0005t0006g0165 a0003c0005t0052g0169 a0003c0005t0006g0165 a0003c0005t0052g0169	2	254	0.0079	17	c.179 others(38): Show c.1790-15990_1790-15989insTTTTTTTTTTTTTTTTT	PGR	ENSG00000082175.16	transcript	ENST00000325455.10	protein_coding	2/7			chr11	TogoVar
PGS1_chr17_78373649_78429659	78390062	T T	TCCCCCGC others(10): Show TCCCCCGCCCCCGCCCCC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02451.hp1 NA18940.hp1 others(2): Show HG01070.hp1 HG02451.hp1 NA18940.hp1 NA18975.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0301 others(2): Show a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0006t0001g0295	5	398	0.0126	17	c.144 others(34): Show c.144-2402_144-2401insCCCCCCCCCCGCCCCCG	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
PHACTR1_chr6_12711767_13292837	12830129	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02818.hp1 NA18906.hp2 others(3): Show HG01167.hp2 HG02818.hp1 NA18906.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0097 a0001c0001t0002g0030 a0001c0001t0002g0055 a0001c0001t0003g0048	6	108	0.0556	17	c.250 others(36): Show c.250+80342_250+80358dupAGAAAGAAAGAAAGAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	12955192	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	108	0.0093	17	c.251 others(36): Show c.251-98169_251-98153dupTTTTTTTTTTTTTTTTT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13000639	A A	AGGAAGGA others(10): Show AGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	108	0.0093	17	c.251 others(36): Show c.251-52724_251-52723insAAGGAAGGAAGGAAGGG	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13073331	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18906.hp2 HG02572.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0029 a0001c0001t0001g0003 a0001c0001t0001g0029	2	108	0.0185	17	c.415 others(36): Show c.415+19816_415+19832dupTTTTTTTTTTTTTTTTT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR1_chr6_12711767_13292837	13195757	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03139.hp1 others(1): Show HG02486.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0050 a0001c0001t0001g0100 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0050 a0001c0001t0001g0100 a0001c0001t0002g0007	4	108	0.0370	17	c.665 others(36): Show c.665-10051_665-10035dupAAAAAAAAAAAAAAAAA	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR3_chr20_59599540_59852711	59622981	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02895.hp1 HG02897.hp1 HG01167.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0050 a0001c0001t0001g0149 a0001c0001t0004g0189 a0001c0001t0001g0050 a0001c0001t0001g0149 a0001c0001t0004g0189	3	250	0.0120	17	c.118 others(36): Show c.118+17853_118+17869dupAAAAAAAAAAAAAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59622989	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp2 HG02698.hp1 others(4): Show HG01928.hp1 HG01975.hp2 HG02698.hp1 NA18945.hp2 NA18970.hp1 NA18995.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0081 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193	7	250	0.0280	17	c.118 others(36): Show c.118+17869_118+17870insAAAACAAAAAAAAAAAA	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59635149	T T	TTTTCTTT others(10): Show TTTTCTTTCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	250	0.0040	17	c.118 others(36): Show c.118+30029_118+30030insCTTTCTTTCTTTCTTTC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59776745	G G	GGCAGCGT others(10): Show GGCAGCGTGGTTGAGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(97): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01928.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02300.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18964.hp2 NA18970.hp2 NA18971.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19084.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0003c0004 a0004c0008 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0003t0007 a0001c0003t0018 a0001c0005t0003 a0001c0007t0001 a0003c0004t0001 a0004c0008t0020 a0005c0006t0001	a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 others(97): Show a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0085 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0140 a0001c0001t0001g0149 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0240 a0001c0001t0002g0246 a0001c0001t0003g0039 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0086 a0001c0001t0003g0092 a0001c0001t0003g0110 a0001c0001t0003g0122 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0135 a0001c0001t0004g0004 a0001c0001t0004g0009 a0001c0001t0004g0016 a0001c0001t0004g0041 a0001c0001t0004g0057 a0001c0001t0004g0075 a0001c0001t0004g0078 a0001c0001t0004g0080 a0001c0001t0004g0097 a0001c0001t0004g0133 a0001c0001t0005g0055 a0001c0001t0005g0060 a0001c0001t0005g0113 a0001c0001t0005g0153 a0001c0001t0006g0022 a0001c0001t0006g0069 a0001c0001t0007g0089 a0001c0001t0007g0118 a0001c0001t0008g0209 a0001c0001t0010g0020 a0001c0001t0012g0007 a0001c0001t0013g0029 a0001c0001t0017g0046 a0001c0001t0019g0242 a0001c0003t0007g0087 a0001c0003t0018g0065 a0001c0005t0003g0035 a0001c0007t0001g0155 a0003c0004t0001g0248 a0004c0008t0020g0144 a0005c0006t0001g0151	100	250	0.4000	17	c.117 others(36): Show c.1174+2270_1174+2286dupCCAGCAGCGTGGTTGAG	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR4_chr1_28364740_28505364	28409951	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0092 a0001c0005t0008g0092	1	228	0.0044	17	c.16+ others(32): Show c.16+2506_16+2522dupTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28450974	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00741.hp2 others(6): Show HG00323.hp1 HG00733.hp1 HG00741.hp2 HG01099.hp1 HG02735.hp2 HG02809.hp2 HG03225.hp2 HG03516.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 others(3): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0021 a0001c0001t0050 a0002c0002t0002 a0002c0002t0007	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 others(6): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0011g0161 a0001c0001t0021g0009 a0001c0001t0050g0098 a0002c0002t0002g0198 a0002c0002t0002g0214 a0002c0002t0007g0003	9	228	0.0395	17	c.17- others(32): Show c.17-8107_17-8091dupTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28476772	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01167.hp2 HG01433.hp2 others(4): Show HG01071.hp1 HG01167.hp2 HG01433.hp2 NA18522.hp2 NA18939.hp2 NA18978.hp1 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 others(1): Show a0002c0002t0002 a0002c0002t0007 a0002c0002t0012 a0002c0002t0043	a0002c0002t0002g0160 a0002c0002t0002g0192 a0002c0002t0002g0205 others(4): Show a0002c0002t0002g0160 a0002c0002t0002g0192 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0007g0136 a0002c0002t0012g0204 a0002c0002t0043g0153	7	228	0.0307	17	c.160 others(34): Show c.1606+496_1606+497insTTTTTTTTTTTTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHAF1_chr16_67104941_67153544	67117199	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	230	0.0044	17	c.65- others(32): Show c.65-2906_65-2890dupTTTTTTTTTTTTTTTTT	PHAF1	ENSG00000125149.12	transcript	ENST00000219139.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHAX_chr5_126595947_126632252	126609095	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02965.hp1 HG02976.hp1 others(1): Show HG02723.hp1 HG02965.hp1 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0061 others(1): Show a0001c0001t0002g0053 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0064	4	382	0.0105	17	c.831 others(32): Show c.831+618_831+634dupTTTTTTTTTTTTTTTTT	PHAX	ENSG00000164902.14	transcript	ENST00000297540.5	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
PHC3_chr3_170082584_170186733	170126529	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0100 a0001c0001t0012g0100	1	332	0.0030	17	c.178 others(36): Show c.1788+2154_1788+2155insTATATATATATATATAT	PHC3	ENSG00000173889.16	transcript	ENST00000495893.7	protein_coding	8/14			chr3	TogoVar
PHETA1_chr12_111355679_111374095	111358247	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0073 a0001c0001t0003g0073	1	380	0.0026	17	c.44 others(28): Show c.4430_*4431insAAAAAAAAAAAAAAAAA	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		2431		chr12	TogoVar
PHETA1_chr12_111355679_111374095	111373886	T T	TGCTATCC others(10): Show TGCTATCCCTCCCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	380	0.0026	17	c.-51 others(28): Show c.-5157_-5156insGAGGGGGGAGGGATAGC	PHETA1	ENSG00000198324.14	transcript	ENST00000683047.1	protein_coding		4792		chr12	TogoVar
PHEX_chrX_22027325_22256310	22055174	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0004 a0001c0001t0119g0004	1	231	0.0043	17	c.349 others(34): Show c.349+7988_349+8004dupAAAAAAAAAAAAAAAAA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	3/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22185756	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0170 a0001c0001t0047g0170	1	231	0.0043	17	c.158 others(36): Show c.1587-4687_1587-4671dupTTTTTTTTTTTTTTTTT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	14/21		INFO_REALIGN_3_PRIME	chrX	TogoVar
PHEX_chrX_22027325_22256310	22249453	A A	ATATATAT others(10): Show ATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01109.hp1 HG02895.hp1 HG02897.hp2 HG01109.hp1 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0146 a0001c0001t0021 a0001c0001t0146	a0001c0001t0021g0013 a0001c0001t0021g0014 a0001c0001t0146g0030 a0001c0001t0021g0013 a0001c0001t0021g0014 a0001c0001t0146g0030	3	231	0.0130	17	c.15 others(28): Show c.1500_*1501insTATATATATATATATAT	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1501		chrX	TogoVar
PHEX_chrX_22027325_22256310	22249455	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0098 a0001c0001t0098	a0001c0001t0098g0172 a0001c0001t0098g0172	1	231	0.0043	17	c.15 others(28): Show c.1503_*1504insAAAAAAAAATATATATA	PHEX	ENSG00000102174.10	transcript	ENST00000379374.5	protein_coding	22/22	1504	INFO_REALIGN_3_PRIME	chrX	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)