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
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(10): Show GGGTGGGGGGGTGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	330	0.0030	17	c.-45 others(28): Show c.-4531_-4530insGCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00558.hp2 others(13): Show HG00408.hp1 HG00558.hp1 HG00558.hp2 HG01070.hp1 HG01071.hp1 HG01257.hp1 HG02027.hp1 HG02738.hp2 HG02886.hp1 HG02970.hp1 NA18942.hp2 NA18970.hp2 NA18977.hp2 NA19000.hp1 NA19004.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0002c0002t0002	a0001c0001t0002g0007 a0001c0001t0002g0216 a0001c0001t0002g0223 others(12): Show a0001c0001t0002g0007 a0001c0001t0002g0216 a0001c0001t0002g0223 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0281 a0001c0001t0014g0036 a0001c0001t0015g0327 a0002c0002t0002g0202	16	408	0.0392	17	c.41 others(28): Show c.4152_*4153insTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMPCA_chr9_136405658_136428761	136414268	G G	GCTCTCTC others(10): Show GCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	390	0.0026	17	c.438 others(32): Show c.438-285_438-284insCTCTCTCTCTCTCTCTC	PMPCA	ENSG00000165688.14	transcript	ENST00000371717.8	protein_coding	4/12			chr9	TogoVar
PMS1_chr2_189779450_189882629	189860839	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTTTGAG	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	234	0.0043	17	c.185 others(36): Show c.1857-2904_1857-2903insTTTTTTTTTTTTTTGAG	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12			chr2	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	234	0.0043	17	c.234 others(34): Show c.2342+444_2342+460dupAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009966	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0092 a0001c0003t0001g0092	1	408	0.0025	17	c.-94 others(26): Show c.-948_-947insATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		918		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009972	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19002.hp1 NA19062.hp2 NA19002.hp1 NA19062.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0131 a0002c0001t0001g0135 a0002c0001t0001g0131 a0002c0001t0001g0135	2	408	0.0049	17	c.-95 others(26): Show c.-954_-953insATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		924		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA19009.hp1 NA18991.hp2 NA19009.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0015 a0001c0002t0002 a0001c0002t0015	a0001c0002t0002g0241 a0001c0002t0015g0220 a0001c0002t0002g0241 a0001c0002t0015g0220	2	408	0.0049	17	c.-95 others(26): Show c.-956_-955insATATATATTTTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01258.hp1 HG02135.hp2 others(3): Show HG00639.hp1 HG01258.hp1 HG02135.hp2 NA18965.hp2 NA19057.hp1 NA19068.hp1	a0001 a0002 a0028 a0001 a0002 a0028	a0001c0002 a0001c0012 a0002c0001 others(2): Show a0001c0002 a0001c0012 a0002c0001 a0002c0013 a0028c0028	a0001c0002t0002 a0001c0002t0008 a0001c0012t0002 others(3): Show a0001c0002t0002 a0001c0002t0008 a0001c0012t0002 a0002c0001t0001 a0002c0013t0001 a0028c0028t0016	a0001c0002t0002g0217 a0001c0002t0008g0251 a0001c0012t0002g0101 others(3): Show a0001c0002t0002g0217 a0001c0002t0008g0251 a0001c0012t0002g0101 a0002c0001t0001g0186 a0002c0013t0001g0177 a0028c0028t0016g0236	6	408	0.0147	17	c.-95 others(26): Show c.-956_-955insATATATATATTTTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00741.hp1 HG01070.hp1 others(11): Show HG00673.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01891.hp2 HG02080.hp1 HG02293.hp1 NA18942.hp2 NA18971.hp2 NA18977.hp2 NA19003.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp2	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0002 a0001c0012 a0001c0024 others(2): Show a0001c0002 a0001c0012 a0001c0024 a0008c0011 a0010c0023	a0001c0002t0002 a0001c0012t0002 a0001c0024t0008 others(3): Show a0001c0002t0002 a0001c0012t0002 a0001c0024t0008 a0008c0011t0002 a0008c0011t0016 a0010c0023t0002	a0001c0002t0002g0201 a0001c0002t0002g0206 a0001c0002t0002g0228 others(11): Show a0001c0002t0002g0201 a0001c0002t0002g0206 a0001c0002t0002g0228 a0001c0002t0002g0243 a0001c0002t0002g0262 a0001c0012t0002g0102 a0001c0024t0008g0252 a0001c0024t0008g0257 a0008c0011t0002g0237 a0008c0011t0002g0255 a0008c0011t0002g0258 a0008c0011t0002g0274 a0008c0011t0016g0254 a0010c0023t0002g0235	14	408	0.0343	17	c.-95 others(26): Show c.-956_-955insATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG02080.hp2 NA18941.hp1 others(5): Show HG01255.hp2 HG02080.hp2 NA18941.hp1 NA18969.hp1 NA18975.hp1 NA18977.hp1 NA19065.hp1 NA19066.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0008c0011	a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0003t0001 a0002c0001t0001 a0008c0011t0002	a0001c0002t0002g0204 a0001c0002t0002g0213 a0001c0002t0002g0245 others(5): Show a0001c0002t0002g0204 a0001c0002t0002g0213 a0001c0002t0002g0245 a0001c0002t0002g0272 a0001c0003t0001g0265 a0002c0001t0001g0133 a0002c0001t0001g0178 a0008c0011t0002g0273	8	408	0.0196	17	c.-95 others(26): Show c.-956_-955insATATATATATATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAATATAT others(10): Show AAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 NA18960.hp2 NA18967.hp1 HG02074.hp2 NA18960.hp2 NA18967.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0005 a0002c0001t0001g0159 a0002c0001t0001g0188 a0002c0001t0001g0005 a0002c0001t0001g0159 a0002c0001t0001g0188	3	408	0.0074	17	c.-95 others(26): Show c.-956_-955insATATATATATATATATT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0006 a0006c0007t0006	a0006c0007t0006g0372 a0006c0007t0006g0372	1	408	0.0025	17	c.-95 others(26): Show c.-956_-955insATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 NA18986.hp1 HG01257.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0237 a0001c0001t0002g0238	2	406	0.0049	17	c.-11 others(36): Show c.-111-2741_-111-2725dupTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNKD_chr2_218265519_218351793	218281139	T T	TTGTTTTG others(10): Show TTGTTTTGTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0128	1	280	0.0036	17	c.236 others(34): Show c.236+9590_236+9591insTGTTTTGTTTTTTTTTG	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9			chr2	TogoVar
PNKD_chr2_218265519_218351793	218281140	G G	GTTTTGTT others(10): Show GTTTTGTTTTTTTTTGGT	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19002.hp1 NA19055.hp2 HG02074.hp2 NA19002.hp1 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0061 a0001c0001t0001g0126 a0001c0001t0001g0127	3	280	0.0107	17	c.236 others(34): Show c.236+9591_236+9592insTTTTGTTTTTTTTTGGT	PNKD	ENSG00000127838.15	transcript	ENST00000273077.9	protein_coding	2/9			chr2	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTG others(10): Show GTTTTTTGTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0002 a0001c0002t0003g0002	1	454	0.0022	17	c.-20 others(28): Show c.-2004_-2003insAAAAAAAAAACAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01167.hp2 HG00280.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0007 a0001c0002t0007g0007	2	454	0.0044	17	c.-39 others(28): Show c.-3914_-3913insTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNN_chr14_39170254_39188220	39187618	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	444	0.0023	17	c.57 others(28): Show c.5755_*5756insAAAAAAAAAAAAAAAAA	PNN	ENSG00000100941.9	transcript	ENST00000216832.9	protein_coding		4399		chr14	TogoVar
PNPLA1_chr6_36265060_36318955	36282077	G G	GAAAGAAA others(10): Show GAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0364 a0003c0006t0001g0364	1	386	0.0026	17	c.206 others(34): Show c.206-9229_206-9228insAGAAAAGAAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36300171	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0104 a0003c0006t0001g0104	1	386	0.0026	17	c.776 others(34): Show c.776-1682_776-1681insTGTGTGTGTTGTGTGTG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA8_chr7_108465417_108531135	108467731	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA20129.hp1 HG01433.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0142 a0001c0001t0008g0143 a0001c0001t0008g0142 a0001c0001t0008g0143	2	390	0.0051	17	c.46 others(28): Show c.4669_*4670insTTTTTTTTTTTTTTTTT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding		2685		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(10): Show ATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03490.hp2 HG03669.hp2 HG02523.hp1 HG03490.hp2 HG03669.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0016 a0006c0008 a0001c0001 a0004c0016 a0006c0008	a0001c0001t0001 a0004c0016t0001 a0006c0008t0001 a0001c0001t0001 a0004c0016t0001 a0006c0008t0001	a0001c0001t0001g0041 a0004c0016t0001g0042 a0006c0008t0001g0043 a0001c0001t0001g0041 a0004c0016t0001g0042 a0006c0008t0001g0043	3	390	0.0077	17	c.161 others(34): Show c.161+1784_161+1785insAAATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0029 a0001c0009t0029	a0001c0009t0029g0119 a0001c0009t0029g0119	1	390	0.0026	17	c.161 others(34): Show c.161+1784_161+1785insAAAAAAAAATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0093 a0003c0003t0004g0093	1	390	0.0026	17	c.-14 others(28): Show c.-1456_-1455insTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
POC1B_chr12_89414718_89531047	89423133	T T	TGGGAGAT others(10): Show TGGGAGATAGGTCTCCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02717.hp2 others(1): Show HG02486.hp1 HG02622.hp2 HG02717.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0012 a0001c0001t0008 a0001c0001t0012	a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 others(1): Show a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 a0001c0001t0012g0107	4	370	0.0108	17	c.133 others(36): Show c.1333-1877_1333-1876insCAGGAGACCTATCTCCC	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	11/11			chr12	TogoVar
POC1B_chr12_89414718_89531047	89502623	T T	TGGATCTT others(10): Show TGGATCTTGTAAGGCCAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03209.hp2 others(1): Show HG02622.hp2 HG02717.hp2 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0015 a0001c0001t0008 a0001c0001t0015	a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 others(1): Show a0001c0001t0008g0362 a0001c0001t0008g0363 a0001c0001t0008g0364 a0001c0001t0015g0361	4	370	0.0108	17	c.101 others(34): Show c.101-5298_101-5282dupGTGGCCTTACAAGATCC	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	2/11			chr12	TogoVar
PODXL_chr7_131495271_131561628	131522654	T T	TAAAGACA others(10): Show TAAAGACACAGCAAAAGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG00738.hp1 others(8): Show HG00639.hp1 HG00642.hp1 HG00738.hp1 HG01099.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG02109.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0015 a0005c0026 others(1): Show a0001c0001 a0002c0015 a0005c0026 a0006c0010	a0001c0001t0001 a0002c0015t0002 a0005c0026t0001 others(5): Show a0001c0001t0001 a0002c0015t0002 a0005c0026t0001 a0005c0026t0004 a0006c0010t0001 a0006c0010t0002 a0006c0010t0003 a0006c0010t0004	a0001c0001t0001g0092 a0002c0015t0002g0209 a0002c0015t0002g0241 others(7): Show a0001c0001t0001g0092 a0002c0015t0002g0209 a0002c0015t0002g0241 a0002c0015t0002g0243 a0005c0026t0001g0374 a0005c0026t0004g0420 a0006c0010t0001g0141 a0006c0010t0002g0004 a0006c0010t0003g0165 a0006c0010t0004g0094	11	440	0.0250	17	c.101 others(36): Show c.101-11238_101-11222dupTCTTTTGCTGTGTCTTT	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(10): Show AGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp2 HG01261.hp2 others(1): Show HG00621.hp2 HG00735.hp2 HG01261.hp2 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0003 a0003c0002t0001 a0001c0001t0001 a0001c0001t0003 a0003c0002t0001	a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0003g0149 others(1): Show a0001c0001t0001g0121 a0001c0001t0001g0140 a0001c0001t0003g0149 a0003c0002t0001g0233	4	440	0.0091	17	c.101 others(36): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(10): Show ATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03471.hp1 NA18952.hp1 others(1): Show HG01891.hp2 HG03471.hp1 NA18952.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0010 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0010 a0001c0002t0015	a0001c0001t0001g0028 a0001c0001t0002g0019 a0001c0002t0010g0029 others(1): Show a0001c0001t0001g0028 a0001c0001t0002g0019 a0001c0002t0010g0029 a0001c0002t0015g0024	4	227	0.0176	17	c.358 others(32): Show c.358-938_358-937insGTGTGTATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85372772	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	227	0.0044	17	c.283 others(34): Show c.283-5007_283-5006insATATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	2/16			chrX	TogoVar
POFUT1_chr20_32202880_32243658	32242834	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG03098.hp1 HG02258.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0006 a0001c0001t0008 a0001c0003t0006	a0001c0001t0008g0011 a0001c0003t0006g0025 a0001c0001t0008g0011 a0001c0003t0006g0025	2	322	0.0062	17	c.81 others(28): Show c.8173_*8174insTATATATATATATATAT	POFUT1	ENSG00000101346.15	transcript	ENST00000375749.8	protein_coding		4177		chr20	TogoVar
POGLUT1_chr3_119463963_119499708	119495225	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0181 a0001c0001t0013g0181	1	422	0.0024	17	c.27 others(28): Show c.2787_*2788insAAAAAAAAAAAAAAAAA	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		518		chr3	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp1 HG02257.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0187 a0001c0001t0001g0015 a0001c0001t0001g0187	2	197	0.0102	17	c.296 others(36): Show c.2964+8449_2964+8465dupTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24801920	G G	GTGTGTGT others(10): Show GTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	197	0.0051	17	c.296 others(36): Show c.2965-7978_2965-7977insTGTGTGTGTGTGTGTGT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36			chrX	TogoVar
POLA2_chr11_65256962_65303685	65265112	C C	CAGCTACT others(10): Show CAGCTACTTGCTGTAGTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0212 a0002c0002t0002g0212	1	284	0.0035	17	c.80- others(32): Show c.80-1470_80-1469insAGCTACTTGCTGTAGTA	POLA2	ENSG00000014138.10	transcript	ENST00000265465.8	protein_coding	1/17			chr11	TogoVar
POLD1_chr19_50379347_50423014	50400133	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0001 a0002c0017t0001	a0002c0017t0001g0059 a0002c0017t0001g0059	1	336	0.0030	17	c.316 others(32): Show c.316+661_316+677dupTTTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD1_chr19_50379347_50423014	50400211	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0013 a0003c0032t0001g0013	1	336	0.0030	17	c.316 others(32): Show c.316+737_316+753dupTTTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(10): Show TATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03688.hp2 NA18950.hp1 others(2): Show HG01243.hp1 HG03688.hp2 NA18950.hp1 NA18954.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 others(2): Show a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0004g0041 a0001c0002t0004g0060	5	400	0.0125	17	c.220 others(34): Show c.220-2126_220-2125insATATATATATATATATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	17	c.43 others(28): Show c.4361_*4362insATATATATATATTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	314	0.0032	17	c.43 others(28): Show c.4361_*4362insATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02559.hp2 NA19070.hp2 others(1): Show HG02109.hp1 HG02559.hp2 NA19070.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0149 a0001c0001t0002g0181 a0001c0001t0005g0075 others(1): Show a0001c0001t0002g0149 a0001c0001t0002g0181 a0001c0001t0005g0075 a0001c0001t0005g0076	4	340	0.0118	17	c.438 others(32): Show c.438+174_438+175insTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLE2_chr14_49638555_49693214	49645043	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA20300.hp1 HG02145.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0186 a0001c0002t0003g0222 a0001c0001t0002g0186 a0001c0002t0003g0222	2	234	0.0086	17	c.156 others(36): Show c.1566-1374_1566-1373insTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	18/18			chr14	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18522.hp2 HG02976.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0174 a0001c0002t0002g0175	2	234	0.0086	17	c.169 others(32): Show c.169+936_169+952dupTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18			chr14	TogoVar
POLH_chr6_43571185_43625523	43588904	C C	CTCGGCTC others(10): Show CTCGGCTCACTGCAAGCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18522.hp2 HG03453.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0106 a0001c0001t0003g0105 a0001c0001t0001g0106 a0001c0001t0003g0105	2	262	0.0076	17	c.490 others(34): Show c.490+1416_490+1432dupTCGGCTCACTGCAAGCT	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLH_chr6_43571185_43625523	43598201	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02970.hp1 HG03471.hp1 others(1): Show HG02622.hp2 HG02970.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0029 a0001c0001t0004 a0001c0001t0029	a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0053 others(1): Show a0001c0001t0004g0050 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0029g0037	4	262	0.0153	17	c.660 others(32): Show c.660+337_660+353dupAAAAAAAAAAAAAAAAA	POLH	ENSG00000170734.12	transcript	ENST00000372236.9	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
POLK_chr5_75506891_75614991	75559505	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18968.hp2 NA18962.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0319 a0001c0002t0004g0320 a0001c0002t0004g0319 a0001c0002t0004g0320	2	356	0.0056	17	c.255 others(34): Show c.255+6921_255+6922insTTTTTTTTTTTTTTTTT	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(10): Show GAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp1 HG02145.hp2 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0032 a0001c0002t0002 a0001c0003t0032	a0001c0002t0002g0158 a0001c0003t0032g0189 a0001c0002t0002g0158 a0001c0003t0032g0189	2	356	0.0056	17	c.152 others(34): Show c.1529-965_1529-949dupAAAAAAAAAAAAAAAAA	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(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02630.hp1 NA19056.hp1 HG00558.hp1 HG02630.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0003c0002t0001 a0001c0001t0001 a0003c0002t0001	a0001c0001t0001g0205 a0001c0001t0001g0212 a0003c0002t0001g0268 a0001c0001t0001g0205 a0001c0001t0001g0212 a0003c0002t0001g0268	3	318	0.0094	17	c.110 others(34): Show c.1109-152_1109-136dupAAAAAAAAAAAAAAAAA	POLQ	ENSG00000051341.15	transcript	ENST00000264233.6	protein_coding	7/29			chr3	TogoVar
POLR1A_chr2_86015216_86110886	86097214	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02735.hp2 HG02895.hp1 others(1): Show HG01167.hp2 HG02735.hp2 HG02895.hp1 NA19030.hp1	a0001 a0005 a0001 a0005	a0001c0012 a0005c0006 a0001c0012 a0005c0006	a0001c0012t0002 a0005c0006t0011 a0001c0012t0002 a0005c0006t0011	a0001c0012t0002g0154 a0001c0012t0002g0155 a0005c0006t0011g0106 others(1): Show a0001c0012t0002g0154 a0001c0012t0002g0155 a0005c0006t0011g0106 a0005c0006t0011g0108	4	340	0.0118	17	c.432 others(34): Show c.432+1380_432+1396dupTTTTTTTTTTTTTTTTT	POLR1A	ENSG00000068654.17	transcript	ENST00000263857.11	protein_coding	3/33			chr2	TogoVar

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