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
PLXNA4_chr7_132118340_132581470	132132443	TTCTGTTC others(18): Show TTCTGTTCTGTTCTGTTCTGTTCTGC	T T	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	88	0.0114	-25	c.558 others(42): Show c.5589+581_5589+605delGCAGAACAGAACAGAACAGAACAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132132463	TTCTGCTC others(18): Show TTCTGCTCTGCTCTGCTCTGCTCTGC	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	88	0.0114	-25	c.558 others(42): Show c.5589+561_5589+585delGCAGAGCAGAGCAGAGCAGAGCAGA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	31/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50307781	AGGGGGGA others(18): Show AGGGGGGAGAGGGGGAGGGGGGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG01109.hp1 HG02630.hp2	a0002 a0002	a0002c0014 a0002c0014	a0002c0014t0003 a0002c0014t0003	a0002c0014t0003g0259 a0002c0014t0003g0260 a0002c0014t0003g0259 a0002c0014t0003g0260	2	302	0.0066	-25	c.-32 others(34): Show c.-327_-303delCTCTCCCCCCTCCCCCTCTCCCCCC	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		136		chr22	TogoVar
PLXNC1_chr12_94143577_94312675	94201748	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01256.hp2 HG01258.hp1 others(1): Show HG01106.hp1 HG01256.hp2 HG01258.hp1 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0015 a0002c0039 a0001c0001 a0002c0015 a0002c0039	a0001c0001t0001 a0002c0015t0001 a0002c0039t0002 a0001c0001t0001 a0002c0015t0001 a0002c0039t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0002c0015t0001g0274 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0002c0015t0001g0274 a0002c0039t0002g0275	4	298	0.0134	-25	c.144 others(44): Show c.1440-7828_1440-7804delTTTTTTTTTTTTTTTTTTTTTTTTT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94301709	ACCTGGAA others(18): Show ACCTGGAATGAATGGAGACTGATGTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp2 HG03225.hp2 HG02109.hp2 HG02886.hp2 HG03225.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0034 a0004c0041 a0005c0045 a0001c0034 a0004c0041 a0005c0045	a0001c0034t0001 a0004c0041t0001 a0005c0045t0001 a0001c0034t0001 a0004c0041t0001 a0005c0045t0001	a0001c0034t0001g0194 a0004c0041t0001g0179 a0005c0045t0001g0175 a0001c0034t0001g0194 a0004c0041t0001g0179 a0005c0045t0001g0175	3	298	0.0101	-25	c.438 others(42): Show c.4386+655_4386+679delTGGAATGAATGGAGACTGATGTTCC	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	28/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMEPA1_chr20_57643396_57715015	57660465	AAACACCC others(18): Show AAACACCCCAACACTCCTACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 NA19068.hp1 HG02165.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0094 a0001c0002t0002g0198 a0001c0002t0002g0094 a0001c0002t0002g0198	2	360	0.0056	-25	c.110 others(40): Show c.110-793_110-769delGTGTGTGTAGGAGTGTTGGGGTGTT	PMEPA1	ENSG00000124225.16	transcript	ENST00000341744.8	protein_coding	1/3			chr20	TogoVar
PMS1_chr2_189779450_189882629	189864684	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02523.hp2 NA18969.hp1 HG00597.hp2 HG02523.hp2 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0097 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0097	3	234	0.0128	-25	c.234 others(42): Show c.2342+458_2342+482delAAATATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864686	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01928.hp2 HG03516.hp1 others(9): Show HG00544.hp1 HG01928.hp2 HG03516.hp1 NA18941.hp1 NA18948.hp2 NA18951.hp1 NA18959.hp1 NA18970.hp2 NA18982.hp1 NA19068.hp2 NA19075.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0082 others(9): Show a0001c0001t0002g0076 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0110 a0001c0001t0004g0062	12	234	0.0513	-25	c.234 others(42): Show c.2342+460_2342+484delATATATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864688	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp1 NA18951.hp2 NA18988.hp1 others(1): Show HG02897.hp1 NA18951.hp2 NA18988.hp1 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0003c0004t0001 a0001c0001t0001 a0001c0001t0002 a0003c0004t0001	a0001c0001t0001g0025 a0001c0001t0002g0084 a0001c0001t0002g0085 others(1): Show a0001c0001t0001g0025 a0001c0001t0002g0084 a0001c0001t0002g0085 a0003c0004t0001g0229	4	234	0.0171	-25	c.234 others(42): Show c.2342+461_2342+485delTATATATATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12			chr2	TogoVar
PNISR_chr6_99393050_99430308	99394632	CACCTCAA others(18): Show CACCTCAAACCTCATGTTCGAAGTTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00609.hp1 others(38): Show HG00140.hp2 HG00544.hp1 HG00609.hp1 HG00621.hp2 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01515.hp2 HG02071.hp2 HG02074.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 NA18940.hp1 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18959.hp2 NA18967.hp2 NA18974.hp2 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18987.hp2 NA18992.hp2 NA18994.hp1 NA19003.hp2 NA19006.hp1 NA19010.hp2 NA19054.hp2 NA19055.hp1 NA19078.hp2 NA19081.hp2 NA19086.hp2 NA19091.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0036 others(19): Show a0001c0001t0002g0003 a0001c0001t0002g0018 a0001c0001t0002g0036 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260	41	406	0.1010	-25	c.58 others(36): Show c.5883_*5907delCAACTTCGAACATGAGGTTTGAGGT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding		3417		chr6	TogoVar
PNPLA3_chr22_43918805_43952582	43933590	TCTCACAC others(18): Show TCTCACACTCCTGGCCTCAAGCGATC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0260 a0001c0001t0005g0260	1	420	0.0024	-25	c.696 others(40): Show c.696+507_696+531delACACTCCTGGCCTCAAGCGATCCTC	PNPLA3	ENSG00000100344.11	transcript	ENST00000216180.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PNPLA8_chr7_108465417_108531135	108505325	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03516.hp2 NA18947.hp1 others(2): Show HG00438.hp1 HG03516.hp2 NA18947.hp1 NA18975.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0018 a0001c0001t0001g0210 a0001c0001t0001g0211 others(1): Show a0001c0001t0001g0018 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0007g0191	5	390	0.0128	-25	c.120 others(44): Show c.1207-2708_1207-2684delTATATATATATATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505327	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01928.hp1 HG01934.hp2 others(22): Show HG01261.hp2 HG01928.hp1 HG01934.hp2 HG01978.hp1 HG01981.hp2 HG02083.hp1 HG02280.hp1 HG02602.hp1 HG03490.hp2 HG04184.hp2 HG04204.hp1 NA18943.hp2 NA18953.hp2 NA18954.hp1 NA18959.hp1 NA18961.hp2 NA18966.hp1 NA18989.hp2 NA19011.hp1 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp1 NA19066.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0002 a0001c0001t0001g0165 a0001c0001t0001g0166 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0010g0169 a0001c0001t0010g0246	25	390	0.0641	-25	c.120 others(44): Show c.1207-2710_1207-2686delTATATATATATATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505328	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01069.hp1 HG03540.hp2 others(2): Show HG00642.hp1 HG01069.hp1 HG03540.hp2 NA18906.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0001g0256 others(2): Show a0001c0001t0001g0161 a0001c0001t0001g0180 a0001c0001t0001g0256 a0001c0001t0001g0267 a0001c0001t0003g0103	5	390	0.0128	-25	c.120 others(44): Show c.1207-2711_1207-2687delATATATATATATATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00738.hp1 HG01891.hp2 others(24): Show HG00438.hp1 HG00738.hp1 HG01891.hp2 HG02486.hp1 HG02630.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG03041.hp2 HG03453.hp1 HG03486.hp1 HG03579.hp2 HG03710.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18945.hp2 NA18953.hp2 NA18957.hp1 NA18961.hp2 NA18971.hp2 NA18972.hp1 NA18981.hp1 NA18988.hp1 NA18998.hp2 NA19054.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0019 a0001c0001t0025 others(2): Show a0001c0001t0001 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0002c0002t0002	a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0187 others(24): Show a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0340 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0019g0215 a0001c0001t0019g0216 a0001c0001t0025g0208 a0001c0001t0026g0130 a0002c0002t0002g0217 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0228 a0002c0002t0002g0229 a0002c0002t0002g0246 a0002c0002t0002g0268 a0002c0002t0002g0271 a0002c0002t0002g0275 a0002c0002t0002g0282	27	390	0.0692	-25	c.128 others(44): Show c.1285-1510_1285-1486delTTTTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
PNRC1_chr6_89075751_89090160	89084854	GTGTGTGA others(18): Show GTGTGTGACTGTTTCTCATGTTTGAA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0001 a0001c0001t0018g0001	1	396	0.0025	-25	c.66 others(34): Show c.668_*692delGTTTCTCATGTTTGAATGTGTGACT	PNRC1	ENSG00000146278.11	transcript	ENST00000336032.4	protein_coding	2/2	668	INFO_REALIGN_3_PRIME	chr6	TogoVar
POFUT2_chr21_45258935_45292895	45264627	TGCCAGCC others(18): Show TGCCAGCCGGGGCGAGGGCAGGGACG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0141 a0001c0001t0027g0141	1	436	0.0023	-25	c.83 others(34): Show c.830_*854delCGTCCCTGCCCTCGCCCCGGCTGGC	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	9/9	830		chr21	TogoVar
POFUT2_chr21_45258935_45292895	45264665	AGGGCGGG others(18): Show AGGGCGGGGCAGTCGGGGTGAGGGTG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0057 a0001c0001t0022g0057	1	436	0.0023	-25	c.79 others(34): Show c.792_*816delCACCCTCACCCCGACTGCCCCGCCC	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	9/9	792		chr21	TogoVar
POGK_chr1_166834475_166861359	166839355	GCCCCGGA others(18): Show GCCCCGGAGCTCGCGCGGGCGCCGTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	408	0.0025	-25	c.-25 others(34): Show c.-251_-227delCCCCGGAGCTCGCGCGGGCGCCGTC	POGK	ENSG00000143157.12	transcript	ENST00000367876.9	protein_coding		119		chr1	TogoVar
POGZ_chr1_151397724_151464494	151430904	CTTTATTT others(18): Show CTTTATTTTATTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0141 a0001c0001t0004g0141	1	320	0.0031	-25	c.284 others(38): Show c.284-88_284-64delATAAAATAAAATAAAATAAAATAAA	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	3/18			chr1	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02818.hp1 NA18977.hp1 others(2): Show HG00735.hp1 HG02818.hp1 NA18977.hp1 NA19056.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0108 others(2): Show a0001c0001t0001g0037 a0001c0001t0001g0057 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0190	5	197	0.0254	-25	c.296 others(44): Show c.2965-3813_2965-3789delTTTTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24971931	GATTTTAT others(18): Show GATTTTATTTTATTTTATTTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01243.hp1 HG02109.hp1 others(12): Show HG01074.hp1 HG01243.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02293.hp1 HG02647.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03471.hp1 HG03579.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 others(12): Show a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0195	15	197	0.0761	-25	c.426 others(46): Show c.4262-23842_4262-23818delTTTTATTTTATTTTATTTTATTTT A	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	36/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD4_chr11_67345772_67358546	67347630	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18959.hp2 NA19005.hp2 others(2): Show NA18944.hp1 NA18959.hp2 NA19005.hp2 NA19060.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	314	0.0159	-25	c.43 others(36): Show c.4340_*4364delATATATATATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3141		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347634	ATATATAT others(18): Show ATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02559.hp2 HG02818.hp1 others(6): Show HG01192.hp1 HG02559.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0004g0005 a0001c0001t0001g0001 a0001c0001t0003g0003 a0001c0001t0004g0005	9	314	0.0287	-25	c.43 others(36): Show c.4336_*4360delATATATATATATATATATATATATA	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3137		chr11	TogoVar
POLE2_chr14_49638555_49693214	49652263	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	234	0.0043	-25	c.121 others(42): Show c.1212-911_1212-887delTTTTTTTTTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	15/18			chr14	TogoVar
POLE4_chr2_74953643_74975128	74970032	AATTCAGT others(18): Show AATTCAGTGGTATTTAGTATATTCAC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	476	0.0021	-25	c.61 others(34): Show c.612_*636delTTCAGTGGTATTTAGTATATTCACA	POLE4	ENSG00000115350.12	transcript	ENST00000483063.2	protein_coding	4/4	612	INFO_REALIGN_3_PRIME	chr2	TogoVar
POLE_chr12_132618762_132692342	132628644	TCAAAACA others(18): Show TCAAAACAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp1 others(156): Show HG00140.hp2 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01175.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18969.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18989.hp2 NA18993.hp2 NA19000.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19012.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp2 NA19088.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 others(11): Show a0001 a0003 a0004 a0007 a0010 a0011 a0012 a0013 a0014 a0015 a0018 a0021 a0022 a0023	a0001c0001 a0001c0008 a0001c0012 others(20): Show a0001c0001 a0001c0008 a0001c0012 a0001c0013 a0001c0022 a0001c0023 a0001c0036 a0003c0003 a0003c0014 a0003c0029 a0004c0007 a0007c0017 a0007c0041 a0010c0016 a0011c0037 a0012c0019 a0013c0020 a0014c0018 a0015c0042 a0018c0027 a0021c0028 a0022c0024 a0023c0025	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(22): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0008t0001 a0001c0012t0001 a0001c0013t0001 a0001c0022t0001 a0001c0023t0001 a0001c0036t0001 a0003c0003t0001 a0003c0014t0001 a0003c0029t0001 a0004c0007t0001 a0007c0017t0001 a0007c0041t0001 a0010c0016t0001 a0011c0037t0001 a0012c0019t0001 a0013c0020t0005 a0014c0018t0001 a0015c0042t0001 a0018c0027t0001 a0021c0028t0001 a0022c0024t0001 a0023c0025t0001	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(147): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0006g0077 a0001c0001t0006g0121 a0001c0001t0007g0012 a0001c0008t0001g0006 a0001c0008t0001g0051 a0001c0008t0001g0052 a0001c0008t0001g0053 a0001c0008t0001g0161 a0001c0012t0001g0073 a0001c0012t0001g0074 a0001c0012t0001g0172 a0001c0013t0001g0075 a0001c0013t0001g0076 a0001c0013t0001g0130 a0001c0022t0001g0131 a0001c0022t0001g0132 a0001c0023t0001g0157 a0001c0036t0001g0113 a0003c0003t0001g0005 a0003c0003t0001g0024 a0003c0003t0001g0029 a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0041 a0003c0003t0001g0042 a0003c0003t0001g0043 a0003c0003t0001g0044 a0003c0003t0001g0045 a0003c0003t0001g0046 a0003c0003t0001g0048 a0003c0003t0001g0049 a0003c0003t0001g0050 a0003c0014t0001g0030 a0003c0014t0001g0035 a0003c0014t0001g0158 a0003c0029t0001g0066 a0004c0007t0001g0003 a0004c0007t0001g0164 a0004c0007t0001g0165 a0004c0007t0001g0166 a0004c0007t0001g0167 a0007c0017t0001g0014 a0007c0017t0001g0134 a0007c0017t0001g0135 a0007c0041t0001g0136 a0010c0016t0001g0028 a0010c0016t0001g0031 a0010c0016t0001g0032 a0011c0037t0001g0241 a0012c0019t0001g0026 a0012c0019t0001g0027 a0013c0020t0005g0033 a0013c0020t0005g0034 a0014c0018t0001g0083 a0014c0018t0001g0127 a0015c0042t0001g0141 a0018c0027t0001g0103 a0021c0028t0001g0110 a0022c0024t0001g0036 a0023c0025t0001g0047	159	292	0.5445	-25	c.633 others(44): Show c.6331-2352_6331-2328delTTTTGTTTTGTTTTGTTTTGTTTTG	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	45/48			chr12	TogoVar
POLE_chr12_132618762_132692342	132692105	TGCCAGTT others(18): Show TGCCAGTTAGTTAGTGAGCTCCCTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02970.hp2 HG01884.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0129 a0001c0001t0001g0122 a0001c0001t0001g0129	2	292	0.0069	-25	c.-48 others(36): Show c.-4815_-4791delTAAGGGAGCTCACTAACTAACTGGC	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding		4764		chr12	TogoVar
POLN_chr4_2066918_2247121	2076088	TCATGGAG others(18): Show TCATGGAGCCCCTCAGGTGCCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02257.hp2 others(7): Show HG01891.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02647.hp2 HG02976.hp1 HG03225.hp1 HG03471.hp2 HG06807.hp2	a0002 a0004 a0002 a0004	a0002c0001 a0004c0007 a0002c0001 a0004c0007	a0002c0001t0001 a0004c0007t0001 a0002c0001t0001 a0004c0007t0001	a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 others(7): Show a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0182 a0002c0001t0001g0183 a0004c0007t0001g0177 a0004c0007t0001g0178 a0004c0007t0001g0179	10	194	0.0516	-25	c.238 others(42): Show c.2388-594_2388-570delGGAGGGGCACCTGAGGGGCTCCATG	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	23/25			chr4	TogoVar
POLN_chr4_2066918_2247121	2164802	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp1 HG01981.hp1 others(8): Show HG00609.hp2 HG01123.hp1 HG01981.hp1 HG03139.hp2 HG03834.hp2 HG03942.hp2 NA18960.hp2 NA18972.hp1 NA18975.hp1 NA19066.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 others(8): Show a0001c0003t0002g0184 a0001c0003t0002g0185 a0001c0003t0002g0186 a0001c0003t0002g0187 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0191 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194	11	194	0.0567	-25	c.155 others(44): Show c.1555-5616_1555-5592delTTTTTTTTTTTTTTTTTTTTTTTTT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	13/25			chr4	TogoVar
POLQ_chr3_121426431_121550988	121548633	AGGGAAGA others(18): Show AGGGAAGAGAGAGACCCTCTCATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0034 a0034	a0034c0040 a0034c0040	a0034c0040t0001 a0034c0040t0001	a0034c0040t0001g0294 a0034c0040t0001g0294	1	318	0.0031	-25	c.-27 others(36): Show c.-2781_-2757delAATATGAGAGGGTCTCTCTCTTCCC	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding		2646		chr3	TogoVar
POLR1B_chr2_112537465_112584818	112542424	TTCCGGCG others(18): Show TTCCGGCGTGTACCGAGAGACTGGCG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp2 others(72): Show HG00140.hp2 HG00280.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01261.hp2 HG01361.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02132.hp2 HG02135.hp1 HG02300.hp2 HG02683.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG03453.hp1 HG03540.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp2 NA18939.hp1 NA18940.hp2 NA18946.hp1 NA18947.hp2 NA18954.hp2 NA18957.hp2 NA18961.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp2 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18997.hp1 NA19002.hp2 NA19005.hp1 NA19009.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0011 a0011c0022 a0001c0001 a0002c0011 a0011c0022	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(7): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0001t0025 a0001c0001t0037 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0002c0011t0073 a0011c0022t0025	a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0007 others(44): Show a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0208 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0005g0001 a0001c0001t0005g0007 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0202 a0001c0001t0005g0210 a0001c0001t0005g0215 a0001c0001t0005g0216 a0001c0001t0005g0225 a0001c0001t0005g0230 a0001c0001t0016g0001 a0001c0001t0016g0005 a0001c0001t0016g0205 a0001c0001t0016g0224 a0001c0001t0016g0229 a0001c0001t0025g0005 a0001c0001t0025g0207 a0001c0001t0037g0206 a0001c0001t0037g0220 a0001c0001t0072g0001 a0001c0001t0074g0214 a0001c0001t0075g0222 a0002c0011t0073g0001 a0011c0022t0025g0209	75	384	0.1953	-25	c.-70 others(32): Show c.-70_-46delTCCGGCGTGTACCGAGAGACTGGCG	POLR1B	ENSG00000125630.16	transcript	ENST00000263331.10	protein_coding		40		chr2	TogoVar
POLR3E_chr16_22292409_22340096	22340067	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAGAGAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0182	1	358	0.0028	-25	c.63 others(36): Show c.6368_*6392delAAAAAAAAAAAAAAAAAGAGAAAAG	POLR3E	ENSG00000058600.16	transcript	ENST00000299853.10	protein_coding		4972		chr16	TogoVar
POLR3H_chr22_41520799_41549470	41545247	GGAAGAAG others(18): Show GGAAGAAGAAGAAAGAAGAAGGAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	384	0.0026	-25	c.-11 others(36): Show c.-1171_-1147delTTCTCCTTCTTCTTTCTTCTTCTTC	POLR3H	ENSG00000100413.17	transcript	ENST00000355209.9	protein_coding		778		chr22	TogoVar
POLR3K_chr16_41407_58608	52446	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18981.hp1 HG01169.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0172 a0001c0001t0006g0162 a0001c0001t0001g0172 a0001c0001t0006g0162	2	432	0.0046	-25	c.112 others(40): Show c.112-826_112-802delTTTTTTTTTTTTTTTTTTTTTTTTT	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2			chr16	TogoVar
POLRMT_chr19_612221_638537	623862	GCTGGCAG others(18): Show GCTGGCAGAGCCTGGGGAGACCGTTC	G G	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0024 a0024	a0024c0057 a0024c0057	a0024c0057t0002 a0024c0057t0002	a0024c0057t0002g0191 a0024c0057t0002g0191	1	422	0.0024	-25	c.114 others(42): Show c.1141-284_1141-260delGAACGGTCTCCCCAGGCTCTGCCAG	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	5/20			chr19	TogoVar
POP1_chr8_98112293_98164835	98161612	CCTCCTCT others(18): Show CCTCCTCTCCCCTCCTTTCCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	422	0.0024	-25	c.33 others(36): Show c.3342_*3366delCTCCTCTCCCCTCCTTTCCCCTCCT	POP1	ENSG00000104356.11	transcript	ENST00000401707.7	protein_coding		1778		chr8	TogoVar
POR_chr7_75910155_75991855	75984727	CCCCAGGA others(18): Show CCCCAGGAGGCGGCCGCCTACCCCAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0110 a0001c0006t0001g0110	1	278	0.0036	-25	c.105 others(40): Show c.1058-49_1058-25delCCCAGGAGGCGGCCGCCTACCCCAA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding	10/15			chr7	TogoVar
POR_chr7_75910155_75991855	75988720	GGGTGGGG others(18): Show GGGTGGGGGGCTGGAGGGGAAGGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01257.hp1 HG01258.hp2 others(6): Show HG01106.hp2 HG01257.hp1 HG01258.hp2 HG01517.hp2 HG02145.hp2 HG03492.hp1 NA18979.hp1 NA19084.hp2 NA20805.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0005 a0002c0001 others(1): Show a0001c0002 a0001c0005 a0002c0001 a0009c0018	a0001c0002t0001 a0001c0005t0001 a0002c0001t0002 others(1): Show a0001c0002t0001 a0001c0005t0001 a0002c0001t0002 a0009c0018t0002	a0001c0002t0001g0169 a0001c0005t0001g0036 a0001c0005t0001g0118 others(6): Show a0001c0002t0001g0169 a0001c0005t0001g0036 a0001c0005t0001g0118 a0001c0005t0001g0254 a0001c0005t0001g0256 a0001c0005t0001g0266 a0001c0005t0001g0267 a0002c0001t0002g0168 a0009c0018t0002g0163	9	278	0.0324	-25	c.22 others(36): Show c.2240_*2264delGGTGGGGGGCTGGAGGGGAAGGCCA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1866		chr7	TogoVar
POR_chr7_75910155_75991855	75988855	GGTGTGGA others(18): Show GGTGTGGAGGGGAAGGCCGGGTGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG02165.hp1 HG02293.hp2 others(9): Show HG00280.hp1 HG02165.hp1 HG02293.hp2 HG02300.hp1 HG02922.hp1 HG03209.hp1 HG03225.hp2 NA18944.hp1 NA18977.hp2 NA18981.hp2 NA19010.hp2 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0003 a0001c0005 a0001c0007 others(1): Show a0001c0003 a0001c0005 a0001c0007 a0004c0012	a0001c0003t0001 a0001c0005t0001 a0001c0007t0005 others(1): Show a0001c0003t0001 a0001c0005t0001 a0001c0007t0005 a0004c0012t0001	a0001c0003t0001g0026 a0001c0003t0001g0060 a0001c0003t0001g0071 others(9): Show a0001c0003t0001g0026 a0001c0003t0001g0060 a0001c0003t0001g0071 a0001c0003t0001g0075 a0001c0003t0001g0152 a0001c0003t0001g0193 a0001c0003t0001g0216 a0001c0003t0001g0230 a0001c0005t0001g0094 a0001c0007t0005g0002 a0001c0007t0005g0239 a0004c0012t0001g0053	12	278	0.0432	-25	c.23 others(36): Show c.2375_*2399delGTGTGGAGGGGAAGGCCGGGTGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2001		chr7	TogoVar
POR_chr7_75910155_75991855	75989009	GTGGGGGG others(18): Show GTGGGGGGTGGAGGGGAAGGCCGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 NA18990.hp1 NA19085.hp1 HG02630.hp1 NA18990.hp1 NA19085.hp1	a0001 a0001	a0001c0006 a0001c0022 a0001c0006 a0001c0022	a0001c0006t0001 a0001c0022t0001 a0001c0006t0001 a0001c0022t0001	a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0022t0001g0024 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0022t0001g0024	3	278	0.0108	-25	c.25 others(36): Show c.2529_*2553delTGGGGGGTGGAGGGGAAGGCCGGGT	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		2155		chr7	TogoVar
POTEI_chr2_130454455_130514328	130501394	ATTGAGAA others(18): Show ATTGAGAAAACTCTGCTCTTAACGAC	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0009 a0009	a0009c0012 a0009c0012	a0009c0012t0005 a0009c0012t0005	a0009c0012t0005g0006 a0009c0012t0005g0006	1	125	0.0080	-25	c.811 others(40): Show c.811-777_811-753delGTCGTTAAGAGCAGAGTTTTCTCAA	POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding	3/14			chr2	TogoVar
POU2F1_chr1_167215886_167432340	167343632	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02976.hp2 HG03579.hp1 others(1): Show HG02602.hp2 HG02976.hp2 HG03579.hp1 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0001c0001t0034 a0001c0001t0073 others(1): Show a0001c0001t0002 a0001c0001t0034 a0001c0001t0073 a0002c0004t0077	a0001c0001t0002g0098 a0001c0001t0034g0206 a0001c0001t0073g0205 others(1): Show a0001c0001t0002g0098 a0001c0001t0034g0206 a0001c0001t0073g0205 a0002c0004t0077g0105	4	292	0.0137	-25	c.127 others(44): Show c.127+11127_127+11151delTTTTTTTTTTTTTTTTTTTTTTTTT	POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PPA2_chr4_105364077_105479062	105449216	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00639.hp1 others(55): Show HG00280.hp2 HG00423.hp1 HG00639.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01169.hp1 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01981.hp2 HG02027.hp1 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02257.hp1 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 NA18612.hp1 NA18940.hp1 NA18953.hp2 NA18959.hp2 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19054.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp2 NA19070.hp2 NA19072.hp2 NA19076.hp2 NA19082.hp2 NA19083.hp1 NA19090.hp1 homoSapiens_chm13v2.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0002c0003 a0006c0012 a0002c0002 a0002c0003 a0006c0012	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(2): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0003t0001 a0006c0012t0011	a0002c0002t0001g0010 a0002c0002t0001g0033 a0002c0002t0001g0222 others(55): Show a0002c0002t0001g0010 a0002c0002t0001g0033 a0002c0002t0001g0222 a0002c0002t0001g0227 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0239 a0002c0002t0001g0241 a0002c0002t0001g0242 a0002c0002t0001g0246 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0278 a0002c0002t0001g0280 a0002c0002t0001g0320 a0002c0002t0001g0323 a0002c0002t0001g0324 a0002c0002t0002g0238 a0002c0002t0002g0240 a0002c0002t0002g0247 a0002c0002t0004g0251 a0002c0003t0001g0340 a0002c0003t0001g0345 a0002c0003t0001g0346 a0002c0003t0001g0347 a0002c0003t0001g0348 a0002c0003t0001g0349 a0002c0003t0001g0350 a0002c0003t0001g0351 a0002c0003t0001g0352 a0002c0003t0001g0354 a0002c0003t0001g0357 a0006c0012t0011g0358	58	366	0.1585	-25	c.321 others(40): Show c.321+109_321+133delTTTTTTTTTTTTTTTTTTTTTTTTT	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	4/11			chr4	TogoVar
PPARA_chr22_46145526_46248755	46146416	AAAGAGAA others(18): Show AAAGAGAAGAGAAGAGAAGAGAAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp1 HG01169.hp1 HG01928.hp1 others(6): Show HG01071.hp1 HG01169.hp1 HG01928.hp1 HG01952.hp1 HG02055.hp2 HG02071.hp1 HG02723.hp2 HG03209.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0030 a0001c0001t0040 a0002c0002t0021	a0001c0001t0002g0032 a0001c0001t0003g0021 a0001c0001t0004g0037 others(5): Show a0001c0001t0002g0032 a0001c0001t0003g0021 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0009g0173 a0001c0001t0030g0001 a0001c0001t0040g0074 a0002c0002t0021g0035	9	200	0.0450	-25	c.-44 others(36): Show c.-4445_-4421delAAGAGAAGAGAAGAGAAGAGAAGAG	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding		4109		chr22	TogoVar
PPARA_chr22_46145526_46248755	46185915	AAATATAT others(18): Show AAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	200	0.0050	-25	c.-43 others(42): Show c.-43+9081_-43+9105delATATATATATATATATATATATATA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPARGC1A_chr4_23787021_23895047	23811889	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG01069.hp1 others(39): Show HG00140.hp1 HG00609.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp1 HG01167.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01975.hp2 HG01993.hp2 HG02056.hp2 HG02083.hp1 HG02155.hp1 HG02258.hp1 HG02293.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG03098.hp2 HG03471.hp2 HG03490.hp2 HG03831.hp2 HG03942.hp2 HG04204.hp2 NA18950.hp1 NA18999.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(9): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0063 a0001c0001t0067 a0001c0001t0068 a0001c0001t0074 a0001c0001t0076 a0001c0016t0030	a0001c0001t0002g0039 a0001c0001t0002g0091 a0001c0001t0002g0092 others(39): Show a0001c0001t0002g0039 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0126 a0001c0001t0002g0171 a0001c0001t0002g0201 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0239 a0001c0001t0002g0291 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0008g0109 a0001c0001t0008g0188 a0001c0001t0008g0189 a0001c0001t0008g0190 a0001c0001t0008g0191 a0001c0001t0008g0197 a0001c0001t0008g0203 a0001c0001t0008g0216 a0001c0001t0009g0068 a0001c0001t0009g0070 a0001c0001t0009g0152 a0001c0001t0009g0186 a0001c0001t0009g0192 a0001c0001t0009g0214 a0001c0001t0009g0268 a0001c0001t0018g0193 a0001c0001t0030g0159 a0001c0001t0031g0292 a0001c0001t0063g0277 a0001c0001t0067g0230 a0001c0001t0068g0103 a0001c0001t0074g0334 a0001c0001t0076g0127 a0001c0016t0030g0281	42	342	0.1228	-25	c.201 others(42): Show c.2019+833_2019+857delAAAAAAAAAAAAAAAAAAAAAAAAA	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	10/12			chr4	TogoVar
PPARGC1A_chr4_23787021_23895047	23859780	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00597.hp1 others(42): Show HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01243.hp2 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 NA18522.hp2 NA18953.hp1 NA18969.hp1 NA18974.hp1 NA18975.hp1 NA19011.hp1 NA19030.hp2 NA19056.hp2 NA19077.hp2 NA19080.hp1 NA19082.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0014 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 others(22): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0036 a0001c0001t0062 a0001c0001t0066 a0001c0001t0069 a0001c0003t0005 a0001c0003t0010 a0001c0003t0012 a0001c0003t0021 a0001c0005t0001 a0001c0005t0007 a0001c0005t0049 a0001c0005t0057 a0001c0014t0075 a0002c0002t0001 a0002c0002t0006 a0002c0002t0011 a0003c0004t0003 a0003c0004t0023	a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 others(42): Show a0001c0001t0002g0034 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0090 a0001c0001t0002g0157 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0007g0041 a0001c0001t0009g0268 a0001c0001t0018g0035 a0001c0001t0018g0167 a0001c0001t0018g0168 a0001c0001t0029g0006 a0001c0001t0032g0030 a0001c0001t0032g0272 a0001c0001t0033g0166 a0001c0001t0033g0170 a0001c0001t0036g0169 a0001c0001t0062g0010 a0001c0001t0066g0278 a0001c0001t0069g0279 a0001c0003t0005g0009 a0001c0003t0010g0015 a0001c0003t0012g0007 a0001c0003t0012g0294 a0001c0003t0021g0014 a0001c0005t0001g0082 a0001c0005t0001g0088 a0001c0005t0001g0219 a0001c0005t0007g0154 a0001c0005t0049g0317 a0001c0005t0057g0237 a0001c0014t0075g0033 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0202 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0001g0318 a0002c0002t0001g0329 a0002c0002t0006g0221 a0002c0002t0011g0005 a0003c0004t0003g0008 a0003c0004t0003g0018 a0003c0004t0023g0004	45	342	0.1316	-25	c.234 others(44): Show c.234+24947_234+24971delATTTTATTTTATTTTATTTTATTTT	PPARGC1A	ENSG00000109819.9	transcript	ENST00000264867.7	protein_coding	2/12			chr4	TogoVar
PPBP_chr4_73981439_73993190	73982164	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	-25	c.50 others(36): Show c.5083_*5107delTTTTTTTTTTTTTTTTTTTTTTTTT	PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding		4274		chr4	TogoVar
PPFIA1_chr11_70265690_70389396	70296657	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18950.hp1 NA19011.hp2 NA18945.hp1 NA18950.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0248 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0248	3	282	0.0106	-25	c.264 others(44): Show c.264+24237_264+24261delAAAGAGAGGGAGAGGGAGACCGTGG	PPFIA1	ENSG00000131626.19	transcript	ENST00000253925.12	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr11	TogoVar

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