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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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
POLE2_chr14_49638555_49693214	49652263	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02572.hp1 HG02647.hp1 others(3): Show HG00597.hp2 HG02572.hp1 HG02647.hp1 NA18944.hp1 NA18993.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 others(3): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0149 a0001c0001t0001g0165 a0001c0001t0001g0203	6	234	0.0256	-17	c.121 others(34): Show c.1212-903_1212-887delTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar
POLE3_chr9_113402235_113415675	113408496	TGCAGATC others(10): Show TGCAGATCAAAAACCATC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	356	0.0028	-17	c.29 others(26): Show c.298_*314delGATGGTTTTTGATCTGC	POLE3	ENSG00000148229.13	transcript	ENST00000374171.5	protein_coding	5/5	298		chr9	TogoVar
POLG_chr15_89311320_89339824	89311497	GATCTAAG others(10): Show GATCTAAGGAGTTCCAAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	398	0.0025	-17	c.52 others(28): Show c.5237_*5253delGTTGGAACTCCTTAGAT	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding		4822		chr15	TogoVar
POLH_chr6_43571185_43625523	43588359	TCCTTCTT others(10): Show TCCTTCTTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0020	a0004c0004t0020g0069 a0004c0004t0020g0069	1	262	0.0038	-17	c.490 others(32): Show c.490+872_490+888delCTTCTTTCCTTCCTTCC	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLI_chr18_54264517_54303234	54267822	CTGGCCTG others(10): Show CTGGCCTGTTAAGAACCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0011 a0013c0017t0011	a0013c0017t0011g0044 a0013c0017t0011g0044	1	338	0.0030	-17	c.-17 others(28): Show c.-1724_-1708delTGGCCTGTTAAGAACCA	POLI	ENSG00000101751.11	transcript	ENST00000579534.6	protein_coding		1694		chr18	TogoVar
POLN_chr4_2066918_2247121	2164802	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02970.hp1 HG03225.hp1 others(3): Show HG02055.hp2 HG02970.hp1 HG03225.hp1 HG06807.hp2 NA19063.hp1 NA19063.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0002c0001 a0004c0007 a0001c0002 a0002c0001 a0004c0007	a0001c0002t0001 a0002c0001t0001 a0004c0007t0001 a0001c0002t0001 a0002c0001t0001 a0004c0007t0001	a0001c0002t0001g0047 a0001c0002t0001g0071 a0002c0001t0001g0112 others(3): Show a0001c0002t0001g0047 a0001c0002t0001g0071 a0002c0001t0001g0112 a0004c0007t0001g0177 a0004c0007t0001g0178 a0004c0007t0001g0179	6	194	0.0309	-17	c.155 others(36): Show c.1555-5608_1555-5592delTTTTTTTTTTTTTTTTT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	13/25			chr4	TogoVar
POLQ_chr3_121426431_121550988	121522284	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01069.hp1 others(18): Show HG00140.hp1 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01192.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp1 HG02886.hp2 HG02922.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1 HG03710.hp2 NA20129.hp2 NA20805.hp2	a0003 a0004 a0010 others(3): Show a0003 a0004 a0010 a0037 a0038 a0039	a0003c0002 a0004c0004 a0004c0043 others(4): Show a0003c0002 a0004c0004 a0004c0043 a0010c0010 a0037c0045 a0038c0042 a0039c0044	a0003c0002t0001 a0004c0004t0001 a0004c0043t0001 others(4): Show a0003c0002t0001 a0004c0004t0001 a0004c0043t0001 a0010c0010t0001 a0037c0045t0001 a0038c0042t0001 a0039c0044t0009	a0003c0002t0001g0275 a0004c0004t0001g0001 a0004c0004t0001g0032 others(17): Show a0003c0002t0001g0275 a0004c0004t0001g0001 a0004c0004t0001g0032 a0004c0004t0001g0034 a0004c0004t0001g0035 a0004c0004t0001g0038 a0004c0004t0001g0039 a0004c0004t0001g0040 a0004c0004t0001g0042 a0004c0004t0001g0044 a0004c0004t0001g0046 a0004c0004t0001g0107 a0004c0004t0001g0289 a0004c0043t0001g0033 a0010c0010t0001g0015 a0010c0010t0001g0016 a0010c0010t0001g0017 a0037c0045t0001g0045 a0038c0042t0001g0043 a0039c0044t0009g0041	21	318	0.0660	-17	c.110 others(34): Show c.1109-152_1109-136delAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1B_chr2_112537465_112584818	112549886	ATTGATGT others(10): Show ATTGATGTTTTCATCAGT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp2 HG02615.hp2 others(13): Show HG01891.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG06807.hp2 NA19240.hp1 NA20129.hp1	a0001 a0010 a0001 a0010	a0001c0003 a0010c0016 a0001c0003 a0010c0016	a0001c0003t0013 a0001c0003t0024 a0001c0003t0036 others(6): Show a0001c0003t0013 a0001c0003t0024 a0001c0003t0036 a0001c0003t0064 a0001c0003t0065 a0001c0003t0066 a0001c0003t0070 a0001c0003t0071 a0010c0016t0034	a0001c0003t0013g0043 a0001c0003t0013g0044 a0001c0003t0013g0045 others(12): Show a0001c0003t0013g0043 a0001c0003t0013g0044 a0001c0003t0013g0045 a0001c0003t0013g0239 a0001c0003t0024g0044 a0001c0003t0024g0045 a0001c0003t0024g0234 a0001c0003t0036g0233 a0001c0003t0036g0237 a0001c0003t0064g0238 a0001c0003t0065g0241 a0001c0003t0066g0240 a0001c0003t0070g0235 a0001c0003t0071g0236 a0010c0016t0034g0232	16	384	0.0417	-17	c.625 others(32): Show c.625+493_625+509delGTTTTCATCAGTTTGAT	POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POLR2F_chr22_37948699_37974312	37951797	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00642.hp1 others(27): Show HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02300.hp2 HG02572.hp1 HG03017.hp2 HG03654.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0033 others(13): Show a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0033 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0164 a0001c0001t0012g0004	30	404	0.0743	-17	c.-19 others(28): Show c.-1990_-1974delTTTTTTTTTTTTTTTTT	POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding		1901		chr22	TogoVar
POLR2M_chr15_57701714_57722557	57705550	AAAAATCG others(10): Show AAAAATCGGGGGAGGGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0086 a0005c0009t0005g0086	1	404	0.0025	-17	c.-12 others(28): Show c.-1292_-1276delAAAATCGGGGGAGGGCG	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding		1163		chr15	TogoVar
POLR2M_chr15_57701714_57722557	57713820	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01346.hp1 HG02300.hp2 HG01070.hp2 HG01346.hp1 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0078 a0001c0001t0001g0029 a0001c0001t0001g0078	3	404	0.0074	-17	c.964 others(32): Show c.964-693_964-677delTTTTTTTTTTTTTTTTT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLRMT_chr19_612221_638537	613266	TGCCGGAA others(10): Show TGCCGGAAGCTGGTGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0179 a0004c0004t0002g0179	1	422	0.0024	-17	c.39 others(28): Show c.3991_*4007delGGCCACCAGCTTCCGGC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3954		chr19	TogoVar
POLRMT_chr19_612221_638537	617104	GCCCCATT others(10): Show GCCCCATTAACCCCCACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18963.hp2 NA18965.hp1 NA18963.hp2 NA18965.hp1	a0004 a0036 a0004 a0036	a0004c0004 a0036c0072 a0004c0004 a0036c0072	a0004c0004t0003 a0036c0072t0004 a0004c0004t0003 a0036c0072t0004	a0004c0004t0003g0297 a0036c0072t0004g0156 a0004c0004t0003g0297 a0036c0072t0004g0156	2	422	0.0047	-17	c.15 others(26): Show c.153_*169delTGTGGGGGTTAATGGGG	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		116		chr19	TogoVar
POM121L12_chr7_53030633_53041925	53041008	CACAATAT others(10): Show CACAATATGACACCTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	432	0.0023	-17	c.44 others(28): Show c.4447_*4463delACAATATGACACCTTTT	POM121L12	ENSG00000221900.6	transcript	ENST00000408890.6	protein_coding		4084		chr7	TogoVar
POMGNT2_chr3_43074234_43111079	43103413	CCACCCAG others(10): Show CCACCCAGCCTGCACCCT	C C	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0097	1	378	0.0027	-17	c.-10 others(36): Show c.-106+2406_-106+2422delAGGGTGCAGGCTGGGTG	POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding	1/1			chr3	TogoVar
POMT1_chr9_131497918_131528799	131515853	CCTCACAG others(10): Show CCTCACAGGGAGCACTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00639.hp2 others(6): Show HG00280.hp1 HG00323.hp1 HG00639.hp2 HG01243.hp1 HG01516.hp1 HG01517.hp1 HG02965.hp1 HG03239.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0004 a0001c0001t0004 a0001c0009t0004	a0001c0001t0004g0008 a0001c0001t0004g0145 a0001c0001t0004g0157 others(2): Show a0001c0001t0004g0008 a0001c0001t0004g0145 a0001c0001t0004g0157 a0001c0009t0004g0152 a0001c0009t0004g0153	9	334	0.0270	-17	c.127 others(34): Show c.1272+335_1272+351delACAGGGAGCACTTTCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516228	GCACTTCC others(10): Show GCACTTCCTCACACGGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01106.hp1 HG01361.hp2 others(14): Show HG00642.hp2 HG01106.hp1 HG01361.hp2 HG01943.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02572.hp2 HG02818.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp2 HG03209.hp2 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03710.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0015 a0003c0005 others(2): Show a0001c0001 a0001c0015 a0003c0005 a0003c0018 a0009c0016	a0001c0001t0003 a0001c0001t0010 a0001c0015t0003 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0015t0003 a0003c0005t0003 a0003c0018t0003 a0009c0016t0003	a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0060 others(11): Show a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0168 a0001c0001t0010g0192 a0001c0015t0003g0055 a0003c0005t0003g0046 a0003c0005t0003g0047 a0003c0005t0003g0129 a0003c0005t0003g0146 a0003c0005t0003g0158 a0003c0005t0003g0172 a0003c0018t0003g0147 a0009c0016t0003g0171	17	334	0.0509	-17	c.127 others(34): Show c.1272+744_1272+760delTTCCTCACACGGAACAC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POMT1_chr9_131497918_131528799	131516364	GCACTTCC others(10): Show GCACTTCCTCTAACAGAA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0192 a0001c0001t0010g0192	1	334	0.0030	-17	c.127 others(34): Show c.1272+852_1272+868delTAACAGAACACTTCCTC	POMT1	ENSG00000130714.19	transcript	ENST00000402686.8	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr9	TogoVar
POP1_chr8_98112293_98164835	98161558	CCCCTTCC others(10): Show CCCCTTCCCCTCTCCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0251 a0001c0004t0006g0251	1	422	0.0024	-17	c.32 others(28): Show c.3288_*3304delCCCTTCCCCTCTCCTTT	POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding		1724		chr8	TogoVar
POPDC2_chr3_119637056_119665589	119659836	CGAAATGG others(10): Show CGAAATGGAAAGGGACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG03098.hp2 HG01109.hp2 HG02602.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0002 a0001c0001t0003 a0002c0002t0002	a0001c0001t0003g0139 a0001c0001t0003g0140 a0002c0002t0002g0072 a0001c0001t0003g0139 a0001c0001t0003g0140 a0002c0002t0002g0072	3	410	0.0073	-17	c.491 others(30): Show c.491+80_491+96delATGTCCCTTTCCATTTC	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding	1/3			chr3	TogoVar
POTEB3_chr15_21400401_21445499	21404904	CTCTTTTT others(10): Show CTCTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0005 a0002c0002t0008g0005	1	54	0.0185	-17	c.40 others(28): Show c.4062_*4078delAAAAAAAAAAAAAAAGA	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding		496		chr15	TogoVar
POTEF_chr2_130068535_130134222	130132054	CTACTGAT others(10): Show CTACTGATTTTTATATGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0022 a0002c0002t0022	a0002c0002t0022g0157 a0002c0002t0022g0157	1	165	0.0061	-17	c.-32 others(28): Show c.-3249_-3233delACATATAAAAATCAGTA	POTEF	ENSG00000196604.13	transcript	ENST00000409914.7	protein_coding		2833		chr2	TogoVar
POTEG_chr14_19397486_19439341	19434994	CGGCGTGC others(10): Show CGGCGTGCGCGTGCGGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0011 a0011	a0011c0044 a0011c0044	a0011c0044t0008 a0011c0044t0008	a0011c0044t0008g0106 a0011c0044t0008g0106	1	111	0.0090	-17	c.-72 others(26): Show c.-722_-706delCGCCGCACGCGCACGCC	POTEG	ENSG00000187537.13	transcript	ENST00000547848.5	protein_coding		654		chr14	TogoVar
POTEJ_chr2_130606440_130663037	130651029	CCTCATCC others(10): Show CCTCATCCTCACAAAGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0047 a0016c0018t0001g0047	1	131	0.0076	-17	c.166 others(36): Show c.1668-3889_1668-3873delCATCCTCACAAAGTGCT	POTEJ	ENSG00000222038.4	transcript	ENST00000409602.2	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POTEM_chr14_18962434_19008752	18976007	TTTTTTGA others(10): Show TTTTTTGAATTACATACG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG03654.hp2 NA18991.hp1 others(2): Show HG02083.hp2 HG03654.hp2 NA18991.hp1 NA18994.hp2 NA19058.hp1	a0004 a0015 a0004 a0015	a0004c0004 a0015c0016 a0004c0004 a0015c0016	a0004c0004t0033 a0004c0004t0034 a0004c0004t0035 others(2): Show a0004c0004t0033 a0004c0004t0034 a0004c0004t0035 a0004c0004t0036 a0015c0016t0032	a0004c0004t0033g0009 a0004c0004t0034g0008 a0004c0004t0035g0007 others(2): Show a0004c0004t0033g0009 a0004c0004t0034g0008 a0004c0004t0035g0007 a0004c0004t0036g0006 a0015c0016t0032g0038	5	67	0.0746	-17	c.811 others(30): Show c.811-35_811-19delAATTACATACGTTTTTG	POTEM	ENSG00000222036.8	transcript	ENST00000547889.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
POU2AF2_chr11_111240725_111291401	111264492	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	380	0.0026	-17	c.120 others(34): Show c.120+8403_120+8419delAGAAAGAAAGAAAGAAA	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111268480	TTATTTTA others(10): Show TTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0348 a0001c0003t0002g0348	1	380	0.0026	-17	c.120 others(36): Show c.120+12390_120+12406delATTTTATTTTATTTTAT	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F1_chr1_167215886_167432340	167343632	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18981.hp1 HG01346.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0076 a0001c0001t0002g0037 a0001c0001t0002g0076	2	292	0.0069	-17	c.127 others(36): Show c.127+11135_127+11151delTTTTTTTTTTTTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F3_chr11_120235140_120324945	120308938	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02451.hp2 HG02818.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0072 a0005c0005t0001g0079 a0005c0005t0001g0072 a0005c0005t0001g0079	2	320	0.0063	-17	c.907 others(32): Show c.907-465_907-449delAAAAAAAAAAAAAAAAA	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39454711	TATATATA others(10): Show TATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0034	1	170	0.0059	-17	c.148 others(36): Show c.1489+3012_1489+3028delTATATATATATATATAA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA2_chr4_105364077_105479062	105449216	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03942.hp2 HG03516.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0157 a0001c0009t0001g0314 a0001c0001t0001g0157 a0001c0009t0001g0314	2	366	0.0055	-17	c.321 others(32): Show c.321+117_321+133delTTTTTTTTTTTTTTTTT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	4/11			chr4	TogoVar
PPARA_chr22_46145526_46248755	46185915	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0074 a0001c0001t0040g0074	1	200	0.0050	-17	c.-43 others(34): Show c.-43+9081_-43+9097delATATATATATATATATA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46185917	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20129.hp2 HG02965.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0079 a0001c0001t0002 a0001c0001t0079	a0001c0001t0002g0195 a0001c0001t0079g0107 a0001c0001t0002g0195 a0001c0001t0079g0107	2	200	0.0100	-17	c.-43 others(34): Show c.-43+9082_-43+9098delTATATATATATATATAT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8			chr22	TogoVar
PPARA_chr22_46145526_46248755	46197029	TGTTTGGT others(10): Show TGTTTGGTTTTGGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02145.hp2 HG02647.hp1 others(5): Show HG01943.hp2 HG02145.hp2 HG02647.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0029 a0001c0001t0066 a0001c0001t0075	a0001c0001t0002g0098 a0001c0001t0004g0051 a0001c0001t0004g0151 others(5): Show a0001c0001t0002g0098 a0001c0001t0004g0051 a0001c0001t0004g0151 a0001c0001t0004g0172 a0001c0001t0029g0003 a0001c0001t0029g0162 a0001c0001t0066g0050 a0001c0001t0075g0006	8	200	0.0400	-17	c.-42 others(34): Show c.-42-1296_-42-1280delGGTTTGGTTTTGGTTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARA_chr22_46145526_46248755	46205540	ATATATAT others(10): Show ATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0176 a0001c0001t0023g0176	1	200	0.0050	-17	c.208 others(34): Show c.208+6951_208+6967delATATATATATATATTTT	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARD_chr6_35337558_35433178	35380457	GTGTTTTT others(10): Show GTGTTTTTTTTTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02647.hp1 HG03130.hp2 others(1): Show HG01109.hp2 HG02647.hp1 HG03130.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0012 a0001c0002t0003g0014 a0001c0002t0003g0016 others(1): Show a0001c0001t0001g0012 a0001c0002t0003g0014 a0001c0002t0003g0016 a0001c0002t0003g0017	4	238	0.0168	-17	c.-10 others(38): Show c.-101-30515_-101-30499delGTTTGTTTTTTTTTTTT	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARD_chr6_35337558_35433178	35384797	GGCCCCGC others(10): Show GGCCCCGCCCGGCCAGCC	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00741.hp1 HG01192.hp1 others(2): Show HG00733.hp2 HG00741.hp1 HG01192.hp1 HG02630.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0018 a0001c0002t0003 a0001c0002t0018	a0001c0002t0003g0032 a0001c0002t0003g0042 a0001c0002t0003g0043 others(2): Show a0001c0002t0003g0032 a0001c0002t0003g0042 a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0018g0034	5	238	0.0210	-17	c.-10 others(38): Show c.-101-26183_-101-26167delCCCGGCCAGCCGCCCCG	PPARD	ENSG00000112033.14	transcript	ENST00000360694.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPARGC1A_chr4_23787021_23895047	23811889	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp2 HG03225.hp2 others(5): Show HG02717.hp1 HG02897.hp2 HG03225.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA19063.hp1 NA19081.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002	a0001c0001t0018 a0001c0001t0029 a0001c0001t0060 others(5): Show a0001c0001t0018 a0001c0001t0029 a0001c0001t0060 a0001c0003t0013 a0001c0005t0001 a0001c0005t0007 a0002c0002t0001 a0002c0002t0006	a0001c0001t0018g0168 a0001c0001t0029g0311 a0001c0001t0060g0011 others(5): Show a0001c0001t0018g0168 a0001c0001t0029g0311 a0001c0001t0060g0011 a0001c0003t0013g0022 a0001c0005t0001g0088 a0001c0005t0007g0154 a0002c0002t0001g0107 a0002c0002t0006g0320	8	342	0.0234	-17	c.201 others(34): Show c.2019+841_2019+857delAAAAAAAAAAAAAAAAA	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	10/12			chr4	TogoVar
PPAT_chr4_56388362_56440615	56402833	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAGG	A A	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0211 a0001c0003t0005g0211	1	384	0.0026	-17	c.661 others(32): Show c.661+190_661+206delCCTTTTTTTTTTTTTTT	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding	5/10			chr4	TogoVar
PPAT_chr4_56388362_56440615	56438385	ATATATAT others(10): Show ATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0267 a0001c0001t0004g0267	1	384	0.0026	-17	c.-29 others(28): Show c.-2925_-2909delATATATATATATATATA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding		2771		chr4	TogoVar
PPBP_chr4_73981439_73993190	73982164	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG02040.hp1 HG02647.hp2 others(6): Show HG00609.hp2 HG02040.hp1 HG02647.hp2 NA18942.hp2 NA18979.hp1 NA18999.hp1 NA19066.hp2 NA19076.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0009g0011 a0001c0001t0001g0001 a0001c0001t0009g0011	9	368	0.0245	-17	c.50 others(28): Show c.5091_*5107delTTTTTTTTTTTTTTTTT	PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding		4274		chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70366590	CGCCACTG others(10): Show CGCCACTGGCCTTCTGTG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0043 a0001c0005t0003g0043	1	282	0.0036	-17	c.286 others(36): Show c.2865+4104_2865+4120delCCACTGGCCTTCTGTGG	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIA2_chr12_81252975_81764350	81415197	AAAAAAAA others(10): Show AAAAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	168	0.0060	-17	c.646 others(34): Show c.646-9311_646-9295delATATTTTTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415199	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	168	0.0060	-17	c.646 others(34): Show c.646-9313_646-9297delATATATTTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415203	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	168	0.0060	-17	c.646 others(34): Show c.646-9317_646-9301delATATATATATTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415205	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA18982.hp2 NA19080.hp2 HG02809.hp1 NA18982.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0132 a0001c0001t0002g0038 a0001c0001t0003g0017 a0001c0001t0001g0132 a0001c0001t0002g0038 a0001c0001t0003g0017	3	168	0.0179	-17	c.646 others(34): Show c.646-9319_646-9303delATATATATATATTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415207	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA18960.hp1 HG03139.hp2 NA18960.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0001 a0003c0006t0002 a0002c0003t0001 a0003c0006t0002	a0002c0003t0001g0129 a0003c0006t0002g0138 a0002c0003t0001g0129 a0003c0006t0002g0138	2	168	0.0119	-17	c.646 others(34): Show c.646-9321_646-9305delATATATATATATATTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27595881	AACAAAAT others(10): Show AACAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	314	0.0032	-17	c.-36 others(36): Show c.-36+17644_-36+17660delCAAAATATATATATATA	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPFIBP2_chr11_7508999_7658756	7559939	AAGAGTGT others(10): Show AAGAGTGTTATCTTTTTC	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0231 a0011c0019t0001g0231	1	318	0.0031	-17	c.65- others(32): Show c.65-5611_65-5595delAGTGTTATCTTTTTCAG	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PPFIBP2_chr11_7508999_7658756	7606886	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	318	0.0031	-17	c.487 others(34): Show c.487-3379_487-3363delTTTTTTTTTTTTTTTTT	PPFIBP2	ENSG00000166387.14	transcript	ENST00000299492.9	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr11	TogoVar

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