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
PLEKHG4B_chr5_87168_194966	190076	CTGGCCGA others(20): Show CTGGCCGAGGGCGGCCACCCCTGAAGGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0075 a0002c0005t0075	a0002c0005t0075g0076 a0002c0005t0075g0076	1	210	0.0048	-27	c.77 others(38): Show c.7754_*7780delTGGCCGAGGGCGGCCACCCCTGAAGGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding		111		chr5	TogoVar
PLK1_chr16_23673889_23695367	23684957	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp1 HG01167.hp1 others(3): Show HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0010 a0001c0001t0006g0081 a0001c0001t0006g0010 a0001c0001t0006g0081	6	354	0.0170	-27	c.103 others(44): Show c.1036+884_1036+910delTTTTTTTTTTTTTTTTTTTTTTTTTTT	PLK1	ENSG00000166851.15	transcript	ENST00000300093.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLPP4_chr10_120452227_120597065	120584060	CTTTCTTA others(20): Show CTTTCTTAAAAGATGGGTCTATCTTCAG	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0109 a0001c0001t0005g0109	1	328	0.0031	-27	c.617 others(44): Show c.617-5237_617-5211delTAAAAGATGGGTCTATCTTCAGTTTCT	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101078102	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0193 a0001c0001t0004g0193	1	203	0.0049	-27	c.-46 others(46): Show c.-46+49058_-46+49084delAGAAGAAGAAGAAGAAGAAGAAGAAG A	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLS1_chr3_142591393_142718664	142600894	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp1 HG02258.hp1 others(3): Show HG02055.hp2 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02886.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0009 a0002c0003t0001 others(1): Show a0001c0001t0003 a0001c0001t0009 a0002c0003t0001 a0002c0003t0002	a0001c0001t0003g0147 a0001c0001t0003g0156 a0001c0001t0003g0157 others(3): Show a0001c0001t0003g0147 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0009g0155 a0002c0003t0001g0152 a0002c0003t0002g0154	6	276	0.0217	-27	c.-37 others(44): Show c.-37+4387_-37+4413delATATATATATATATATATATATTTTTT	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLS1_chr3_142591393_142718664	142600896	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0153 a0001c0001t0009g0153	1	276	0.0036	-27	c.-37 others(44): Show c.-37+4389_-37+4415delATATATATATATATATATATTTTTTTT	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLS1_chr3_142591393_142718664	142617739	AGGCTGAG others(20): Show AGGCTGAGGCAGGTGGATCACTTGAGGT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0012 a0003c0005t0012	a0003c0005t0012g0133 a0003c0005t0012g0133	1	276	0.0036	-27	c.-37 others(46): Show c.-37+21231_-37+21257delGGCTGAGGCAGGTGGATCACTTGAGG T	PLS1	ENSG00000120756.13	transcript	ENST00000457734.7	protein_coding	1/15			chr3	TogoVar
PLVAP_chr19_17346455_17382342	17381457	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02572.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0096 a0001c0001t0002g0008 a0001c0001t0002g0096	2	436	0.0046	-27	c.-41 others(38): Show c.-4196_-4170delAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		4116		chr19	TogoVar
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(20): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01361.hp2 HG01993.hp2 others(10): Show HG00738.hp2 HG01361.hp2 HG01993.hp2 HG02055.hp1 HG02080.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 NA18612.hp1 NA19043.hp2 NA19074.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0022 a0001c0033 a0005c0040	a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 others(8): Show a0001c0001t0004 a0001c0001t0010 a0001c0002t0004 a0001c0003t0002 a0001c0003t0018 a0001c0004t0001 a0001c0004t0021 a0001c0007t0004 a0001c0022t0022 a0001c0033t0001 a0005c0040t0015	a0001c0001t0004g0078 a0001c0001t0010g0053 a0001c0002t0004g0007 others(10): Show a0001c0001t0004g0078 a0001c0001t0010g0053 a0001c0002t0004g0007 a0001c0003t0002g0060 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0018g0010 a0001c0004t0001g0041 a0001c0004t0021g0039 a0001c0007t0004g0029 a0001c0022t0022g0081 a0001c0033t0001g0042 a0005c0040t0015g0040	13	88	0.1477	-27	c.150 others(48): Show c.1503+15454_1503+15480delTTTTTTTTTTTTTTTTTTTTTTTT TTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563970	CCTCCTCC others(20): Show CCTCCTCCTCCTTCTCCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(23): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01934.hp1 HG01993.hp2 HG02080.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0023 a0001c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0002t0004 a0001c0002t0010 a0001c0002t0024 a0001c0003t0002 a0001c0004t0001 a0001c0005t0008 a0001c0005t0009 a0001c0006t0005 a0001c0008t0019 a0001c0010t0011 a0001c0011t0001 a0001c0014t0009 a0001c0023t0002 a0001c0033t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 others(23): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0004g0078 a0001c0001t0010g0053 a0001c0001t0014g0044 a0001c0001t0016g0047 a0001c0002t0004g0006 a0001c0002t0010g0057 a0001c0002t0024g0058 a0001c0003t0002g0046 a0001c0003t0002g0049 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0067 a0001c0004t0001g0050 a0001c0005t0008g0055 a0001c0005t0008g0063 a0001c0005t0009g0059 a0001c0006t0005g0061 a0001c0008t0019g0054 a0001c0010t0011g0077 a0001c0011t0001g0051 a0001c0014t0009g0056 a0001c0023t0002g0076 a0001c0033t0001g0042	26	88	0.2955	-27	c.-87 others(46): Show c.-87+12425_-87+12451delAAGGAGGAGGAGGAGAAGGAGGAGGA G	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50272567	TAAAAGGC others(20): Show TAAAAGGCAAATCTGGCCTTGCTCACCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0021 a0001c0003t0001g0021	1	302	0.0033	-27	c.31 others(38): Show c.3110_*3136delCGGTGAGCAAGGCCAGATTTGCCTTTT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		2411		chr22	TogoVar
PMEL_chr12_55949105_55971042	55968860	TGCTTATT others(20): Show TGCTTATTAACACAGAGGGGGCCATCAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0015	1	396	0.0025	-27	c.-28 others(38): Show c.-2876_-2850delTTGATGGCCCCCTCTGTGTTAATAAGC	PMEL	ENSG00000185664.15	transcript	ENST00000548747.6	protein_coding		2819		chr12	TogoVar
PMM1_chr22_41571900_41594840	41594365	GTGGGGGA others(20): Show GTGGGGGAGGCGGTGGGGGGGTGGGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG01934.hp2 others(9): Show HG00408.hp1 HG00423.hp1 HG01934.hp2 HG01943.hp1 HG02723.hp1 HG02976.hp2 HG03225.hp1 NA18975.hp1 NA18994.hp2 NA19000.hp2 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 others(7): Show a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0144 a0001c0001t0001g0145	12	330	0.0364	-27	c.-45 others(38): Show c.-4587_-4561delACCCCCACCCCCCCACCGCCTCCCCCA	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4526		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864684	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02922.hp2 HG02965.hp1 others(1): Show HG01257.hp2 HG02922.hp2 HG02965.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0095 a0001c0001t0004g0065 a0001c0001t0004g0071 others(1): Show a0001c0001t0002g0095 a0001c0001t0004g0065 a0001c0001t0004g0071 a0001c0001t0004g0131	4	234	0.0171	-27	c.234 others(44): Show c.2342+458_2342+484delAAATATATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNMA8B_chr19_46486191_46500867	46498944	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG02717.hp2 HG02895.hp2 others(1): Show HG00738.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	4	426	0.0094	-27	c.-35 others(38): Show c.-3506_-3480delTTTTTTTTTTTTTTTTTTTTTTTTTTT	PNMA8B	ENSG00000204851.7	transcript	ENST00000599531.2	protein_coding		3078		chr19	TogoVar
PNPLA7_chr9_137454952_137555402	137529048	ACTACAGC others(20): Show ACTACAGCAGCACACTCAGAGCTTCCTT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0146 a0001c0002t0001g0146	1	188	0.0053	-27	c.748 others(44): Show c.748-6218_748-6192delAAGGAAGCTCTGAGTGTGCTGCTGTAG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	8/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551704	CGAGCCCC others(20): Show CGAGCCCCGCCCCGCGAGCCCCGCCCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0001 a0013c0023t0001	a0013c0023t0001g0178 a0013c0023t0001g0178	1	188	0.0053	-27	c.-15 others(38): Show c.-1534_-1508delCGGGGCGGGGCTCGCGGGGCGGGGCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1303		chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505323	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	390	0.0026	-27	c.120 others(46): Show c.1207-2708_1207-2682delTATATATATATATATATATATATATA T	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505325	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18522.hp1 HG00423.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0001 a0001c0001t0018	a0001c0001t0001g0185 a0001c0001t0018g0023 a0001c0001t0001g0185 a0001c0001t0018g0023	2	390	0.0051	-27	c.120 others(46): Show c.1207-2710_1207-2684delTATATATATATATATATATATATATA T	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505326	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	390	0.0026	-27	c.120 others(46): Show c.1207-2711_1207-2685delATATATATATATATATATATATATAT A	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505332	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0001 a0008c0013t0001	a0008c0013t0001g0274 a0008c0013t0001g0274	1	390	0.0026	-27	c.120 others(46): Show c.1207-2717_1207-2691delAAAAAAATATATATATATATATATAT A	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PODXL_chr7_131495271_131561628	131497255	GGCTTTGT others(20): Show GGCTTTGTGATCATGCATTCTGGAGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0340 a0004c0004t0003g0340	1	440	0.0023	-27	c.70 others(38): Show c.7029_*7055delTCACTCCAGAATGCATGATCACAAAGC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		3015		chr7	TogoVar
POLD4_chr11_67345772_67358546	67347624	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	314	0.0064	-27	c.43 others(38): Show c.4344_*4370delATATATATATATATATATTTTTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3147		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347626	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG02257.hp2 others(1): Show HG00639.hp2 HG01074.hp1 HG02257.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	4	314	0.0127	-27	c.43 others(38): Show c.4342_*4368delATATATATATATATATATATTTTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3145		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347628	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG02486.hp1 others(10): Show HG01255.hp1 HG02055.hp1 HG02486.hp1 HG02602.hp2 HG02698.hp2 HG03831.hp1 NA18947.hp1 NA18948.hp2 NA18957.hp2 NA18959.hp1 NA18965.hp1 NA19000.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	13	314	0.0414	-27	c.43 others(38): Show c.4340_*4366delATATATATATATATATATATATTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3143		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347630	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00408.hp1 others(59): Show HG00099.hp1 HG00140.hp2 HG00408.hp1 HG00423.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG01071.hp2 HG01243.hp1 HG01496.hp2 HG01891.hp2 HG01978.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02273.hp1 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG03239.hp2 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG04115.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18906.hp2 NA18944.hp2 NA18954.hp1 NA18967.hp2 NA18975.hp2 NA18984.hp2 NA18988.hp2 NA18994.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19057.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19083.hp2 NA19084.hp1 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0001 a0001c0001t0005 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0005g0006 a0001c0001t0009g0010 a0001c0001t0001g0001 a0001c0001t0005g0006 a0001c0001t0009g0010	62	314	0.1975	-27	c.43 others(38): Show c.4338_*4364delATATATATATATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3141		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347632	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01891.hp1 HG02027.hp2 others(18): Show HG00099.hp2 HG01891.hp1 HG02027.hp2 HG02040.hp1 HG02080.hp2 HG02280.hp2 HG02486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03831.hp2 NA18612.hp1 NA18952.hp1 NA18983.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp2 NA19009.hp1 NA19030.hp2 NA19082.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0001 a0001c0001t0005g0006 a0001c0001t0001g0001 a0001c0001t0005g0006	21	314	0.0669	-27	c.43 others(38): Show c.4336_*4362delATATATATATATATATATATATATATT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3139		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347634	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp1 HG02976.hp2 HG02300.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0002g0002	2	314	0.0064	-27	c.43 others(38): Show c.4334_*4360delATATATATATATATATATATATATATA	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3137		chr11	TogoVar
POLE2_chr14_49638555_49693214	49652263	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	234	0.0043	-27	c.121 others(44): Show c.1212-913_1212-887delTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar
POLE_chr12_132618762_132692342	132639703	CCACTTTG others(20): Show CCACTTTGGGAGGCCGAGGCAGGTGGAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02717.hp1 HG03453.hp1 HG01109.hp1 HG02717.hp1 HG03453.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0156 a0008c0011t0002g0159 a0008c0011t0002g0160 a0008c0011t0002g0156 a0008c0011t0002g0159 a0008c0011t0002g0160	3	292	0.0103	-27	c.537 others(44): Show c.5379-432_5379-406delATCCACCTGCCTCGGCCTCCCAAAGTG	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	39/48			chr12	TogoVar
POLR3A_chr10_77970149_78034515	77971502	TGGCTCAT others(20): Show TGGCTCATGGGATGTAAACAGAAGTGTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0023 a0008c0014t0023	a0008c0014t0023g0137 a0008c0014t0023g0137	1	374	0.0027	-27	c.59 others(38): Show c.5949_*5975delGACACTTCTGTTTACATCCCATGAGCC	POLR3A	ENSG00000148606.15	transcript	ENST00000372371.8	protein_coding		3646		chr10	TogoVar
POLR3K_chr16_41407_58608	52446	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0073 a0001c0001t0004g0073	1	432	0.0023	-27	c.112 others(42): Show c.112-828_112-802delTTTTTTTTTTTTTTTTTTTTTTTTTTT	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2			chr16	TogoVar
POTEB2_chr15_20830372_20871314	20867925	CTCAAAAA others(20): Show CTCAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 NA19002.hp1 HG00735.hp2 NA19002.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0002 a0001c0002t0002 a0002c0001t0002	a0001c0002t0002g0004 a0002c0001t0002g0003 a0001c0002t0002g0004 a0002c0001t0002g0003	2	4	0.5000	-27	c.-16 others(38): Show c.-1671_-1645delTTTTTTTTTTTTTTTTTTTTTTTTTGA	POTEB2	ENSG00000230031.10	transcript	ENST00000454856.4	protein_coding		1612		chr15	TogoVar
POTED_chr21_13604777_13650823	13609735	CCCCGCAC others(20): Show CCCCGCACGCGCGCCCGCCTCACGCGCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	416	0.0024	-27	c.-49 others(36): Show c.-493_-467delCCCGCACGCGCGCCCGCCTCACGCGCG	POTED	ENSG00000166351.11	transcript	ENST00000299443.6	protein_coding		41		chr21	TogoVar
POTEI_chr2_130454455_130514328	130499567	GAAAATCA others(20): Show GAAAATCAGCTAGGGGGTAAGAGAAATA	G G	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	125	0.0080	-27	c.918 others(42): Show c.918-373_918-347delTATTTCTCTTACCCCCTAGCTGATTTT	POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding	4/14			chr2	TogoVar
POU2AF2_chr11_111240725_111291401	111264550	AAGAAAGA others(20): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	380	0.0026	-27	c.120 others(44): Show c.120+8459_120+8485delAGAAAGAAAGAAAGAAAGAAAGAAAGG	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4			chr11	TogoVar
POU2F1_chr1_167215886_167432340	167343632	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp1 HG02258.hp1 others(12): Show HG01433.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02559.hp2 HG02615.hp1 HG02723.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03486.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 others(8): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0054 a0001c0001t0056 a0001c0001t0058 a0001c0001t0060 a0001c0003t0061	a0001c0001t0003g0116 a0001c0001t0010g0091 a0001c0001t0010g0096 others(12): Show a0001c0001t0003g0116 a0001c0001t0010g0091 a0001c0001t0010g0096 a0001c0001t0017g0004 a0001c0001t0017g0005 a0001c0001t0024g0008 a0001c0001t0024g0009 a0001c0001t0025g0109 a0001c0001t0026g0113 a0001c0001t0026g0114 a0001c0001t0054g0107 a0001c0001t0056g0111 a0001c0001t0058g0112 a0001c0001t0060g0115 a0001c0003t0061g0007	15	292	0.0514	-27	c.127 others(46): Show c.127+11125_127+11151delTTTTTTTTTTTTTTTTTTTTTTTTTT T	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F3_chr11_120235140_120324945	120308938	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0223 a0001c0001t0008g0223	1	320	0.0031	-27	c.907 others(42): Show c.907-475_907-449delAAAAAAAAAAAAAAAAAAAAAAAAAAA	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU3F3_chr2_104849115_104863574	104857073	ACCGCCGC others(20): Show ACCGCCGCCGCCCCTGCCGCCGCCGCCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0000 a0001c0001t0031g0000	1	406	0.0025	-27	c.72 others(34): Show c.72_*98delCCTGCCGCCGCCGCCGCCGCCGCCGCC	POU3F3	ENSG00000198914.5	transcript	ENST00000361360.4	protein_coding	1/1	72	INFO_REALIGN_3_PRIME	chr2	TogoVar
PPA2_chr4_105364077_105479062	105391886	GTATGAGT others(20): Show GTATGAGTAAAGAAATAAAGCATTACTT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02004.hp1 HG02280.hp1 others(6): Show HG01081.hp1 HG02004.hp1 HG02280.hp1 HG02723.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(6): Show a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217	9	366	0.0246	-27	c.869 others(44): Show c.869+4336_869+4362delAAGTAATGCTTTATTTCTTTACTCATA	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	9/11			chr4	TogoVar
PPARGC1B_chr5_149725310_149860022	149755597	GTTATTAT others(20): Show GTTATTATTATTATTATTGTTATTATTA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG03209.hp2 others(4): Show HG02451.hp1 HG03041.hp2 HG03209.hp2 HG03225.hp2 HG06807.hp2 NA18906.hp1 NA20129.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0015	a0001c0006 a0001c0030 a0004c0005 others(3): Show a0001c0006 a0001c0030 a0004c0005 a0005c0013 a0007c0019 a0015c0027	a0001c0006t0001 a0001c0030t0031 a0004c0005t0001 others(3): Show a0001c0006t0001 a0001c0030t0031 a0004c0005t0001 a0005c0013t0001 a0007c0019t0017 a0015c0027t0037	a0001c0006t0001g0316 a0001c0030t0031g0320 a0004c0005t0001g0121 others(4): Show a0001c0006t0001g0316 a0001c0030t0031g0320 a0004c0005t0001g0121 a0005c0013t0001g0317 a0007c0019t0017g0314 a0007c0019t0017g0315 a0015c0027t0037g0318	7	320	0.0219	-27	c.78+ others(44): Show c.78+25195_78+25221delGTTATTATTATTATTATTATTATTATT	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPBP_chr4_73981439_73993190	73982164	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02559.hp1 HG03453.hp2 others(2): Show HG01496.hp2 HG02559.hp1 HG03453.hp2 NA18991.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	368	0.0136	-27	c.50 others(38): Show c.5081_*5107delTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding		4274		chr4	TogoVar
PPFIA2_chr12_81252975_81764350	81415191	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0012 a0001c0001t0006g0012	1	168	0.0060	-27	c.646 others(44): Show c.646-9315_646-9289delATATATATTTTTTTTTTTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81415209	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0061 a0001c0002t0001g0061	1	168	0.0060	-27	c.646 others(44): Show c.646-9333_646-9307delATATATATATATATATATATATATATT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIA2_chr12_81252975_81764350	81436279	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp1 HG03139.hp1 HG01109.hp2 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0153 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0002g0153	3	168	0.0179	-27	c.645 others(44): Show c.645+3666_645+3692delTTTTTTTTTTTTTTTTTTTTTTTTTTT	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	7/32			chr12	TogoVar
PPFIBP1_chr12_27519206_27700564	27620692	CAGTTTGA others(20): Show CAGTTTGATCACCAATAAAGTGGGGATA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01106.hp1 others(35): Show HG01070.hp1 HG01099.hp1 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01361.hp2 HG01517.hp1 HG01891.hp2 HG02015.hp2 HG02148.hp2 HG02257.hp2 HG02622.hp1 HG02738.hp2 HG03017.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03516.hp2 HG03942.hp1 HG04228.hp2 NA18612.hp2 NA18942.hp2 NA18950.hp1 NA18951.hp1 NA18971.hp1 NA18977.hp2 NA18983.hp2 NA18988.hp2 NA18990.hp1 NA18992.hp2 NA19002.hp2 NA19010.hp2 NA19030.hp2 NA19058.hp2 NA19070.hp1 NA19080.hp1 NA19087.hp2 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0013	a0001c0001 a0001c0002 a0001c0021 others(4): Show a0001c0001 a0001c0002 a0001c0021 a0002c0003 a0003c0006 a0012c0023 a0013c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0031 a0001c0002t0003 a0001c0021t0012 a0002c0003t0002 a0003c0006t0022 a0012c0023t0026 a0013c0026t0003	a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0058 others(35): Show a0001c0001t0001g0012 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0096 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0001g0312 a0001c0001t0002g0009 a0001c0001t0002g0311 a0001c0001t0003g0185 a0001c0001t0003g0194 a0001c0001t0003g0233 a0001c0001t0004g0075 a0001c0001t0004g0077 a0001c0001t0004g0191 a0001c0001t0004g0278 a0001c0001t0005g0157 a0001c0001t0031g0070 a0001c0002t0003g0123 a0001c0021t0012g0011 a0002c0003t0002g0020 a0003c0006t0022g0115 a0012c0023t0026g0119 a0013c0026t0003g0044	38	314	0.1210	-27	c.-35 others(46): Show c.-35-12666_-35-12640delTTGATCACCAATAAAGTGGGGATAAG T	PPFIBP1	ENSG00000110841.14	transcript	ENST00000228425.11	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPIF_chr10_79342469_79360334	79345489	ACAGCCTG others(20): Show ACAGCCTGCCCTTGGGCAATTCACTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03239.hp1 HG03669.hp1 others(1): Show HG01175.hp1 HG03239.hp1 HG03669.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	4	408	0.0098	-27	c.-20 others(38): Show c.-2059_-2033delCAGCCTGCCCTTGGGCAATTCACTCCC	PPIF	ENSG00000108179.14	transcript	ENST00000225174.8	protein_coding		1979		chr10	TogoVar
PPM1E_chr17_58750854_58990179	58816770	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0130 a0001c0001t0005g0130	1	312	0.0032	-27	c.464 others(46): Show c.464+60311_464+60337delATATATATATATATATATATATATTT T	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1H_chr12_62638994_62940150	62771528	CCAAAAGT others(20): Show CCAAAAGTTCATGTAGCCCTTTCATATG	C C	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02922.hp2 HG02976.hp1 others(3): Show HG02897.hp1 HG02922.hp2 HG02976.hp1 HG03516.hp2 NA18906.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0022 a0001c0002t0013 a0001c0002t0014 others(2): Show a0001c0001t0022 a0001c0002t0013 a0001c0002t0014 a0001c0002t0020 a0001c0002t0039	a0001c0001t0022g0192 a0001c0002t0013g0122 a0001c0002t0014g0077 others(3): Show a0001c0001t0022g0192 a0001c0002t0013g0122 a0001c0002t0014g0077 a0001c0002t0020g0016 a0001c0002t0020g0019 a0001c0002t0039g0018	6	252	0.0238	-27	c.869 others(46): Show c.869+16671_869+16697delCATATGAAAGGGCTACATGAACTTTT G	PPM1H	ENSG00000111110.12	transcript	ENST00000228705.7	protein_coding	4/9			chr12	TogoVar
PPM1J_chr1_112704998_112720332	112706437	ACACACAC others(20): Show ACACACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG03831.hp1 HG01361.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0070 a0001c0001t0001g0025 a0001c0001t0001g0070	2	422	0.0047	-27	c.36 others(38): Show c.3699_*3725delGTGTGTGTGTGTGTGTGTGTGTGTGTG	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3560		chr1	TogoVar

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Search Results (Total: 3848 hits)