Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PNOC_chr8_28312268_28348351	28330400	T T	TATTTTAT others(14): Show TATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02886.hp2 HG02922.hp2 others(2): Show HG02451.hp1 HG02886.hp2 HG02922.hp2 HG03209.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0345 a0001c0001t0001g0355 others(2): Show a0001c0001t0001g0220 a0001c0001t0001g0345 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357	5	424	0.0118	21	c.126 others(38): Show c.126+1117_126+1118insATTTTATTTTATTTTATTTTA	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3			chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGGA others(14): Show GGAAGGGAAGGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0223 a0005c0005t0002g0223	1	386	0.0026	21	c.206 others(38): Show c.206-9107_206-9106insAAGGGAAGGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA3_chr22_43918805_43952582	43924238	C C	CCCTCCGA others(14): Show CCCTCCGAGGCAGATGCTTCCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0011 a0011	a0011c0012 a0011c0012	a0011c0012t0018 a0011c0012t0018	a0011c0012t0018g0053 a0011c0012t0018g0053	1	420	0.0024	21	c.187 others(36): Show c.187+141_187+161dupCCTCCGAGGCAGATGCTTCCT	PNPLA3	ENSG00000100344.11	transcript	ENST00000216180.8	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PNPLA7_chr9_137454952_137555402	137492768	A A	AGGGCAGG others(14): Show AGGGCAGGGCCATGGGCTGGGT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0001 a0001c0037t0001	a0001c0037t0001g0183 a0001c0037t0001g0183	1	188	0.0053	21	c.219 others(38): Show c.2197+224_2197+244dupACCCAGCCCATGGCCCTGCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137492906	C C	CAGGGCGG others(14): Show CAGGGCGGGGCCATGGGCTGGG	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA20129.hp1 HG02071.hp1 NA20129.hp1	a0001 a0035 a0001 a0035	a0001c0001 a0035c0056 a0001c0001 a0035c0056	a0001c0001t0001 a0035c0056t0001 a0001c0001t0001 a0035c0056t0001	a0001c0001t0001g0142 a0035c0056t0001g0093 a0001c0001t0001g0142 a0035c0056t0001g0093	2	188	0.0106	21	c.219 others(37): Show c.2197+86_2197+106dupCCCAGCCCATGGCCCCGCCCT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137492928	A A	AGGGCGGG others(14): Show AGGGCGGGGCCATGGGCTGGGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0004 a0016c0017t0004	a0016c0017t0004g0135 a0016c0017t0004g0135	1	188	0.0053	21	c.219 others(36): Show c.2197+64_2197+84dupACCCAGCCCATGGCCCCGCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	20/34			chr9	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0162 a0001c0001t0006g0162	1	390	0.0026	21	c.161 others(38): Show c.161+1784_161+1785insAAAAATATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01517.hp1 HG02132.hp2 others(3): Show HG01258.hp2 HG01517.hp1 HG02132.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0003 a0004c0004 others(2): Show a0001c0001 a0002c0003 a0004c0004 a0004c0023 a0005c0005	a0001c0001t0003 a0002c0003t0002 a0004c0004t0001 others(2): Show a0001c0001t0003 a0002c0003t0002 a0004c0004t0001 a0004c0023t0002 a0005c0005t0001	a0001c0001t0003g0086 a0002c0003t0002g0225 a0004c0004t0001g0390 others(3): Show a0001c0001t0003g0086 a0002c0003t0002g0225 a0004c0004t0001g0390 a0004c0004t0001g0428 a0004c0023t0002g0396 a0005c0005t0001g0411	6	440	0.0136	21	c.101 others(40): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131558478	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG03579.hp1 HG02717.hp2 HG03579.hp1	a0002 a0023 a0002 a0023	a0002c0012 a0023c0046 a0002c0012 a0023c0046	a0002c0012t0014 a0023c0046t0002 a0002c0012t0014 a0023c0046t0002	a0002c0012t0014g0315 a0023c0046t0002g0314 a0002c0012t0014g0315 a0023c0046t0002g0314	2	440	0.0046	21	c.-21 others(32): Show c.-2120_-2119insAAAAAAATATATATATATATA	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding		1851		chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(14): Show ATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02602.hp1 HG02970.hp1 HG00621.hp1 HG02602.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0186 a0001c0001t0002g0012 a0001c0002t0004g0147 a0001c0001t0001g0186 a0001c0001t0002g0012 a0001c0002t0004g0147	3	227	0.0132	21	c.358 others(36): Show c.358-938_358-937insGTGTGTATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85372772	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0212 a0001c0001t0003g0212	1	227	0.0044	21	c.283 others(38): Show c.283-5007_283-5006insATATATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	2/16			chrX	TogoVar
POFUT2_chr21_45258935_45292895	45281387	C C	CAATTCAG others(14): Show CAATTCAGCCTAGCTCCCTCCA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0236 a0001c0002t0002g0236	1	436	0.0023	21	c.638 others(36): Show c.638+941_638+961dupTGGAGGGAGCTAGGCTGAATT	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	4/8			chr21	TogoVar
POLA1_chrX_24688918_25001986	24806053	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	197	0.0051	21	c.296 others(40): Show c.2965-3809_2965-3789dupTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD1_chr19_50379347_50423014	50396418	C C	CATTGTAT others(14): Show CATTGTATATCTTGTCAAAGAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01891.hp1 others(11): Show HG01109.hp2 HG01243.hp1 HG01891.hp1 HG01891.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp1 HG03041.hp1 HG03209.hp1 HG03486.hp2	a0002 a0003 a0002 a0003	a0002c0015 a0003c0006 a0003c0012 others(1): Show a0002c0015 a0003c0006 a0003c0012 a0003c0033	a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 others(1): Show a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 a0003c0033t0001	a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 others(11): Show a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0012t0001g0039 a0003c0012t0001g0042 a0003c0012t0001g0043 a0003c0033t0001g0100	14	336	0.0417	21	c.-1- others(36): Show c.-1-2416_-1-2415insAGATATTGTATATCTTGTCAA	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50396418	C C	CGTTGTAT others(14): Show CGTTGTATATCTTGTCAAAGAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0013 a0003c0032t0001g0013	1	336	0.0030	21	c.-1- others(36): Show c.-1-2433_-1-2432insGTTGTATATCTTGTCAAAGAT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	1/26			chr19	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0241 a0001c0001t0006g0241	1	400	0.0025	21	c.220 others(38): Show c.220-2126_220-2125insATATATATATATTTTTTTTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp2 HG03195.hp2 others(1): Show HG02055.hp2 HG02258.hp2 HG03195.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0300 a0001c0002t0002g0304 a0001c0002t0002g0305 others(1): Show a0001c0002t0002g0300 a0001c0002t0002g0304 a0001c0002t0002g0305 a0001c0002t0004g0077	4	400	0.0100	21	c.220 others(38): Show c.220-2126_220-2125insATATATATATATATATATATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	21	c.43 others(32): Show c.4361_*4362insATATATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	234	0.0043	21	c.169 others(36): Show c.169+932_169+952dupTTTTTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18			chr14	TogoVar
POLH_chr6_43571185_43625523	43581669	G G	GGCGGTCG others(14): Show GGCGGTCGGGGCGGCGGCGGCT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0089 a0002c0002t0005g0089	1	262	0.0038	21	c.-4- others(34): Show c.-4-638_-4-637insGCGGCGGCGGCTGCGGTCGGG	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLH_chr6_43571185_43625523	43585637	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0037 a0001c0001t0029g0037	1	262	0.0038	21	c.273 others(38): Show c.273-1618_273-1617insTTTTTTTTTTTTTTTTTTTTT	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75559505	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0313 a0001c0002t0004g0313	1	356	0.0028	21	c.255 others(38): Show c.255+6921_255+6922insTTTTTTTTTTTTTTTTTTTTT	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLK_chr5_75506891_75614991	75595248	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA18906.hp1 HG02647.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0009 a0001c0001t0026	a0001c0001t0009g0231 a0001c0001t0026g0180 a0001c0001t0009g0231 a0001c0001t0026g0180	2	356	0.0056	21	c.152 others(38): Show c.1529-969_1529-949dupAAAAAAAAAAAAAAAAAAAAA	POLK	ENSG00000122008.16	transcript	ENST00000241436.9	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLQ_chr3_121426431_121550988	121522284	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 NA18982.hp1 HG02683.hp1 NA18982.hp1	a0003 a0007 a0003 a0007	a0003c0002 a0007c0008 a0003c0002 a0007c0008	a0003c0002t0001 a0007c0008t0001 a0003c0002t0001 a0007c0008t0001	a0003c0002t0001g0158 a0007c0008t0001g0293 a0003c0002t0001g0158 a0007c0008t0001g0293	2	318	0.0063	21	c.110 others(38): Show c.1109-156_1109-136dupAAAAAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03579.hp1 HG03139.hp2 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0150 a0001c0012t0002g0156 a0001c0012t0002g0150 a0001c0012t0002g0156	2	340	0.0059	21	c.432 others(38): Show c.432+1376_432+1396dupTTTTTTTTTTTTTTTTTTTTT	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33			chr2	TogoVar
POLR1G_chr19_45401644_45415737	45410565	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0084 a0003c0003t0084	a0003c0003t0084g0001 a0003c0003t0084g0001	1	406	0.0025	21	c.10 others(32): Show c.1064_*1065insGTGTGTGTGTGTGTGTGTGTG	POLR1G	ENSG00000117877.11	transcript	ENST00000309424.8	protein_coding	3/3	1065		chr19	TogoVar
POLR2C_chr16_57457679_57477009	57475693	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	390	0.0026	21	c.45 others(32): Show c.4574_*4575insCTCTCTCTCTCTCTCTCTCTC	POLR2C	ENSG00000102978.13	transcript	ENST00000219252.10	protein_coding		3685		chr16	TogoVar
POLR2D_chr2_127838553_127863155	127844249	G G	GATCTTGC others(14): Show GATCTTGCATTTGCCAGCCTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0097 a0001c0002t0097	a0001c0002t0097g0052 a0001c0002t0097g0052	1	358	0.0028	21	c.38 others(32): Show c.3837_*3857dupGGAGGCTGGCAAATGCAAGAT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	4/4	3857		chr2	TogoVar
POLR2D_chr2_127838553_127863155	127850440	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0072 a0001c0001t0065g0072	1	358	0.0028	21	c.350 others(36): Show c.350+129_350+149dupTTTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	3/3			chr2	TogoVar
POLR2D_chr2_127838553_127863155	127856290	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00735.hp2 others(43): Show HG00621.hp1 HG00642.hp1 HG00735.hp2 HG01106.hp1 HG01175.hp1 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01943.hp1 HG01978.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02300.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03831.hp2 NA18941.hp1 NA18954.hp1 NA18956.hp1 NA18965.hp1 NA18968.hp1 NA18972.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18988.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19011.hp2 NA19066.hp2 NA19074.hp1 NA19079.hp1 NA19091.hp1 NA19091.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0014 a0001c0001t0019 a0001c0001t0029 a0001c0001t0040 a0001c0001t0044 a0001c0001t0053 a0001c0001t0061 a0001c0001t0071 a0001c0001t0088	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0036 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0036 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0004g0224 a0001c0001t0007g0037 a0001c0001t0014g0218 a0001c0001t0019g0217 a0001c0001t0029g0223 a0001c0001t0040g0221 a0001c0001t0044g0228 a0001c0001t0053g0216 a0001c0001t0061g0220 a0001c0001t0071g0222 a0001c0001t0088g0219	46	358	0.1285	21	c.73+ others(36): Show c.73+1737_73+1738insTTTTTTTTTTTTTTTTTTTTT	POLR2D	ENSG00000144231.11	transcript	ENST00000272645.9	protein_coding	1/3			chr2	TogoVar
POLR2E_chr19_1081574_1100375	1085529	C C	CTCCATCT others(14): Show CTCCATCTCTCCTGTCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG02258.hp1 HG02809.hp2 others(5): Show HG01978.hp2 HG02258.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0026 a0001c0002t0024 a0001c0002t0026	a0001c0002t0024g0124 a0001c0002t0024g0274 a0001c0002t0024g0276 others(3): Show a0001c0002t0024g0124 a0001c0002t0024g0274 a0001c0002t0024g0276 a0001c0002t0024g0296 a0001c0002t0026g0020 a0001c0002t0026g0275	8	442	0.0181	21	c.32 others(32): Show c.3205_*3206insAGGAGAGACAGGAGAGATGGA	POLR2E	ENSG00000099817.12	transcript	ENST00000615234.5	protein_coding		1044		chr19	TogoVar
POLR2M_chr15_57701714_57722557	57713820	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	404	0.0025	21	c.964 others(36): Show c.964-697_964-677dupTTTTTTTTTTTTTTTTTTTTT	POLR2M	ENSG00000255529.9	transcript	ENST00000299638.8	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
POLR3B_chr12_106352748_106515198	106477891	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	304	0.0033	21	c.271 others(42): Show c.2713+14281_2713+14301dupTTTTTTTTTTTTTTTTTTTTT	POLR3B	ENSG00000013503.10	transcript	ENST00000228347.9	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
POLR3E_chr16_22292409_22340096	22303639	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02896.hp1 others(4): Show HG01167.hp1 HG02109.hp2 HG02896.hp1 HG02897.hp1 HG03139.hp2 HG03225.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(4): Show a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305	7	358	0.0196	21	c.36+ others(34): Show c.36+653_36+654insTTTTTTTTTTTTTTTTTTTTT	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
POLR3G_chr5_90469864_90519557	90478569	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0239 a0002c0002t0006g0239	1	366	0.0027	21	c.-44 others(38): Show c.-44+3566_-44+3567insTTTTTTTTTTTTTTTTTTTTT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3H_chr22_41520799_41549470	41544429	A A	ACGCACCG others(14): Show ACGCACCGCGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00673.hp1 HG01081.hp1 HG02027.hp2 others(2): Show HG00673.hp1 HG01081.hp1 HG02027.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 others(1): Show a0001c0001t0025 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036	a0001c0001t0025g0061 a0001c0001t0025g0063 a0001c0001t0034g0060 others(2): Show a0001c0001t0025g0061 a0001c0001t0025g0063 a0001c0001t0034g0060 a0001c0001t0035g0064 a0001c0001t0036g0062	5	384	0.0130	21	c.-32 others(30): Show c.-329_-328insCGGTGCGCGGTGCGCGGTGCG	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6	329		chr22	TogoVar
POLR3H_chr22_41520799_41549470	41544436	A A	ACGCACCA others(14): Show ACGCACCACGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02451.hp1 HG02486.hp1 HG02486.hp2 others(6): Show HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02698.hp1 HG02809.hp2 HG03098.hp2 HG03579.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0017 a0001c0001t0056 a0001c0001t0016 a0001c0001t0017 a0001c0001t0056	a0001c0001t0016g0040 a0001c0001t0016g0180 a0001c0001t0016g0181 others(3): Show a0001c0001t0016g0040 a0001c0001t0016g0180 a0001c0001t0016g0181 a0001c0001t0017g0020 a0001c0001t0017g0179 a0001c0001t0056g0178	9	384	0.0234	21	c.-33 others(30): Show c.-336_-335insCGGTGCGCGGTGCGTGGTGCG	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6	336		chr22	TogoVar
POLR3H_chr22_41520799_41549470	41544436	A A	ACGCACCG others(14): Show ACGCACCGCGCACCGCGCACCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01891.hp1 others(3): Show HG01256.hp1 HG01258.hp1 HG01891.hp1 NA19010.hp1 NA19054.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0026 a0001c0001t0041 a0001c0001t0018 a0001c0001t0026 a0001c0001t0041	a0001c0001t0018g0110 a0001c0001t0018g0111 a0001c0001t0018g0112 others(2): Show a0001c0001t0018g0110 a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0026g0025 a0001c0001t0041g0109	6	384	0.0156	21	c.-33 others(30): Show c.-336_-335insCGGTGCGCGGTGCGCGGTGCG	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding	1/6	336		chr22	TogoVar
POLRMT_chr19_612221_638537	616132	C C	CCCCGCCA others(14): Show CCCCGCCAGCCCCCCGGGCGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	422	0.0024	21	c.11 others(32): Show c.1121_*1141dupCGCGCCCGGGGGGCTGGCGGG	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		1088		chr19	TogoVar
POLRMT_chr19_612221_638537	620966	G G	GGGGCGCG others(14): Show GGGGCGCGGGGGCGCCGGGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01123.hp1 HG01243.hp2 others(20): Show HG00735.hp2 HG01123.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp1 HG01515.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02572.hp1 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03491.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp2 NA18950.hp1 NA18998.hp2 NA19059.hp2	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0013 a0031	a0001c0016 a0002c0003 a0002c0007 others(5): Show a0001c0016 a0002c0003 a0002c0007 a0002c0041 a0005c0009 a0008c0011 a0013c0068 a0031c0053	a0001c0016t0001 a0002c0003t0003 a0002c0007t0001 others(6): Show a0001c0016t0001 a0002c0003t0003 a0002c0007t0001 a0002c0007t0002 a0002c0041t0002 a0005c0009t0001 a0008c0011t0002 a0013c0068t0002 a0031c0053t0003	a0001c0016t0001g0016 a0001c0016t0001g0079 a0002c0003t0003g0288 others(19): Show a0001c0016t0001g0016 a0001c0016t0001g0079 a0002c0003t0003g0288 a0002c0003t0003g0289 a0002c0003t0003g0307 a0002c0003t0003g0308 a0002c0003t0003g0312 a0002c0003t0003g0325 a0002c0003t0003g0327 a0002c0003t0003g0329 a0002c0003t0003g0330 a0002c0003t0003g0331 a0002c0007t0001g0051 a0002c0007t0002g0221 a0002c0007t0002g0223 a0002c0041t0002g0216 a0005c0009t0001g0053 a0005c0009t0001g0072 a0008c0011t0002g0231 a0008c0011t0002g0234 a0013c0068t0002g0228 a0031c0053t0003g0319	23	422	0.0545	21	c.264 others(36): Show c.2640+71_2640+91dupTCCCCCGGCGCCCCCGCGCCC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/20			chr19	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0002 a0002c0030t0002	a0002c0030t0002g0200 a0002c0030t0002g0200	1	422	0.0024	21	c.823 others(38): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTTTTT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POLRMT_chr19_612221_638537	626696	C C	CAAATAAA others(14): Show CAAATAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0010 a0002c0013t0010	a0002c0013t0010g0274 a0002c0013t0010g0274	1	422	0.0024	21	c.823 others(38): Show c.823-1443_823-1442insTTTTTTTTTTTTTTTTTATTT	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	3/20			chr19	TogoVar
POM121C_chr7_75411786_75491299	75464856	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0036 a0003c0017t0036	a0003c0017t0036g0264 a0003c0017t0036g0264	1	308	0.0033	21	c.-15 others(40): Show c.-152+9827_-152+9847dupTTTTTTTTTTTTTTTTTTTTT	POM121C	ENSG00000272391.6	transcript	ENST00000615331.5	protein_coding	3/14			chr7	TogoVar
POMGNT1_chr1_46183683_46203434	46198533	C C	CGGCGGCG others(14): Show CGGCGGCGGCGGCGGCGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	406	0.0025	21	c.-24 others(30): Show c.-249_-248insACCGCCGCCGCCGCCGCCGCC	POMGNT1	ENSG00000085998.15	transcript	ENST00000371984.8	protein_coding		100		chr1	TogoVar
POMZP3_chr7_76604986_76632279	76627764	A A	AGTAGCGC others(14): Show AGTAGCGCGTGGTAAGGGGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0004 a0000c0002t0004	a0000c0002t0004g0240 a0000c0002t0004g0240	1	423	0.0024	21	c.-12 others(32): Show c.-1209_-1208insCACCCCCTTACCACGCGCTAC	POMZP3	ENSG00000146707.15	transcript	ENST00000310842.9	protein_coding		486		chr7	TogoVar
PON1_chr7_95292676_95329532	95302096	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02071.hp1 NA18990.hp1 others(2): Show HG01496.hp2 HG02071.hp1 NA18990.hp1 NA19084.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0231 others(2): Show a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0004g0178	5	434	0.0115	21	c.909 others(35): Show c.909+88_909+108dupTTTTTTTTTTTTTTTTTTTTT	PON1	ENSG00000005421.9	transcript	ENST00000222381.8	protein_coding	8/8			chr7	TogoVar
PON2_chr7_95399862_95440028	95417648	C C	CCACATAC others(14): Show CCACATACACATGTATACACAG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	398	0.0025	21	c.146 others(38): Show c.146-1372_146-1352dupCTGTGTATACATGTGTATGTG	PON2	ENSG00000105854.13	transcript	ENST00000222572.8	protein_coding	2/8			chr7	TogoVar
POP4_chr19_29601283_29622237	29614709	G G	GGACAGGC others(14): Show GGACAGGCTGGTCTCAAACTCC	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0087 a0001c0001t0010g0087	1	462	0.0022	21	c.527 others(36): Show c.527-534_527-514dupGACAGGCTGGTCTCAAACTCC	POP4	ENSG00000105171.10	transcript	ENST00000585603.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
POPDC2_chr3_119637056_119665589	119640962	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG01123.hp1 others(6): Show HG00323.hp1 HG00544.hp1 HG01123.hp1 HG02080.hp1 NA18954.hp2 NA18963.hp2 NA18978.hp2 NA18993.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0027 others(4): Show a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0027 a0002c0002t0002g0051 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065	9	410	0.0220	21	c.16 others(32): Show c.1622_*1642dupTTTTTTTTTTTTTTTTTTTTT	POPDC2	ENSG00000121577.14	transcript	ENST00000493094.6	protein_coding		1093		chr3	TogoVar
POR_chr7_75910155_75991855	75988986	G G	GAGGGGAA others(14): Show GAGGGGAAGGCCGGGTGGGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	278	0.0036	21	c.25 others(32): Show c.2505_*2506insAGGGGAAGGCCGGGTGGGTGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2132		chr7	TogoVar

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