Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLXNA4_chr7_132118340_132581470	132282610	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02258.hp1 HG02258.hp2 others(5): Show HG01255.hp2 HG02258.hp1 HG02258.hp2 HG02809.hp1 HG02922.hp1 HG03831.hp1 HG03927.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0013 a0001c0026	a0001c0001t0003 a0001c0001t0013 a0001c0002t0003 others(3): Show a0001c0001t0003 a0001c0001t0013 a0001c0002t0003 a0001c0003t0002 a0001c0013t0007 a0001c0026t0001	a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0002t0003g0004 others(5): Show a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0003t0002g0021 a0001c0003t0002g0049 a0001c0013t0007g0002 a0001c0026t0001g0020	8	88	0.0909	-15	c.150 others(36): Show c.1503+15466_1503+15480delTTTTTTTTTTTTTTT	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	4/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132489792	TCCTCACG others(8): Show TCCTCACGTGGAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0009 a0001c0009t0001g0009	1	88	0.0114	-15	c.118 others(32): Show c.1189-333_1189-319delCTTTTCCACGTGAGG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	2/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132562173	TTTCTCCT others(8): Show TTTCTCCTCCTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0055 a0001c0005t0008g0055	1	88	0.0114	-15	c.-87 others(34): Show c.-87+14234_-87+14248delGGAGGAGGAGGAGAA	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563063	CCTCCTCC others(8): Show CCTCCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	88	0.0114	-15	c.-87 others(34): Show c.-87+13344_-87+13358delAAGGAGGAGGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563504	CCTCCTCC others(8): Show CCTCCTCCTCCTGCTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00621.hp2 others(24): Show HG00099.hp2 HG00544.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01081.hp2 HG01255.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01934.hp1 HG01993.hp2 HG02080.hp1 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG03017.hp1 HG03239.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03942.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0010 a0001c0011 a0001c0014 a0001c0023 a0001c0025 a0001c0033	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0014 a0001c0001t0016 a0001c0002t0004 a0001c0002t0010 a0001c0002t0024 a0001c0003t0002 a0001c0004t0001 a0001c0005t0008 a0001c0005t0009 a0001c0006t0005 a0001c0008t0019 a0001c0010t0011 a0001c0011t0001 a0001c0014t0009 a0001c0023t0002 a0001c0025t0004 a0001c0033t0001	a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 others(24): Show a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0004g0078 a0001c0001t0010g0053 a0001c0001t0014g0044 a0001c0001t0016g0047 a0001c0002t0004g0006 a0001c0002t0010g0057 a0001c0002t0024g0058 a0001c0003t0002g0046 a0001c0003t0002g0049 a0001c0003t0002g0060 a0001c0003t0002g0062 a0001c0003t0002g0067 a0001c0004t0001g0050 a0001c0005t0008g0055 a0001c0005t0008g0063 a0001c0005t0009g0059 a0001c0006t0005g0061 a0001c0008t0019g0054 a0001c0010t0011g0077 a0001c0011t0001g0051 a0001c0014t0009g0056 a0001c0023t0002g0076 a0001c0025t0004g0043 a0001c0033t0001g0042	27	88	0.3068	-15	c.-87 others(34): Show c.-87+12903_-87+12917delCAGCAGGAGGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132563682	CCTCCTCC others(8): Show CCTCCTCCTCCTCCTT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02647.hp1 HG01496.hp1 HG02647.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0016 a0001c0019 a0002c0016	a0001c0019t0006 a0002c0016t0006 a0001c0019t0006 a0002c0016t0006	a0001c0019t0006g0075 a0002c0016t0006g0074 a0001c0019t0006g0075 a0002c0016t0006g0074	2	88	0.0227	-15	c.-87 others(34): Show c.-87+12725_-87+12739delAAGGAGGAGGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNA4_chr7_132118340_132581470	132564021	TCTCCTCC others(8): Show TCTCCTCCTCCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG03239.hp1 HG03942.hp2 HG00099.hp1 HG03239.hp1 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0009 a0001c0002 a0001c0008 a0001c0009	a0001c0002t0004 a0001c0008t0002 a0001c0009t0001 a0001c0002t0004 a0001c0008t0002 a0001c0009t0001	a0001c0002t0004g0007 a0001c0008t0002g0008 a0001c0009t0001g0009 a0001c0002t0004g0007 a0001c0008t0002g0008 a0001c0009t0001g0009	3	88	0.0341	-15	c.-87 others(34): Show c.-87+12386_-87+12400delGAGAAGGAGGAGGAG	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	1/31			chr7	TogoVar
PLXNB2_chr22_50269979_50312646	50274581	GAAGCCAC others(8): Show GAAGCCACCAGATGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0028 a0028	a0028c0068 a0028c0068	a0028c0068t0003 a0028c0068t0003	a0028c0068t0003g0239 a0028c0068t0003g0239	1	302	0.0033	-15	c.11 others(26): Show c.1108_*1122delGCCATCTGGTGGCTT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		397		chr22	TogoVar
PLXNB3_chrX_153759249_153784341	153759925	CAACAAAA others(8): Show CAACAAAACAAAACAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp1 HG02257.hp2 others(27): Show HG01243.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03516.hp2 HG03579.hp1 NA18943.hp1 NA18989.hp1 NA18994.hp1 NA19057.hp2 NA19068.hp1 NA19081.hp1 NA19090.hp1	a0001 a0002 a0004 others(4): Show a0001 a0002 a0004 a0008 a0014 a0015 a0023	a0001c0001 a0001c0010 a0002c0002 others(6): Show a0001c0001 a0001c0010 a0002c0002 a0004c0005 a0004c0012 a0008c0020 a0014c0038 a0015c0035 a0023c0034	a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0010t0001 a0002c0002t0001 a0004c0005t0001 a0004c0005t0003 a0004c0012t0001 a0008c0020t0001 a0014c0038t0001 a0015c0035t0001 a0023c0034t0001	a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0010t0001g0009 others(15): Show a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0010t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0027 a0002c0002t0001g0081 a0004c0005t0001g0009 a0004c0005t0001g0011 a0004c0005t0001g0017 a0004c0005t0001g0028 a0004c0005t0001g0051 a0004c0005t0001g0082 a0004c0005t0003g0028 a0004c0012t0001g0026 a0008c0020t0001g0034 a0014c0038t0001g0017 a0015c0035t0001g0050 a0023c0034t0001g0027	30	308	0.0974	-15	c.-44 others(26): Show c.-4444_-4430delAACAAAACAAAACAA	PLXNB3	ENSG00000198753.12	transcript	ENST00000361971.10	protein_coding		4323		chrX	TogoVar
PLXNC1_chr12_94143577_94312675	94144363	CATGCTAT others(8): Show CATGCTATGCTATGCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01255.hp1 HG01346.hp2 others(14): Show HG00738.hp2 HG01255.hp1 HG01346.hp2 HG01433.hp2 HG01515.hp1 HG02258.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02809.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03688.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0004 others(5): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0038 a0001c0040 a0004c0018	a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 others(8): Show a0001c0002t0001 a0001c0002t0009 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0005t0002 a0001c0007t0003 a0001c0007t0013 a0001c0038t0001 a0001c0040t0001 a0004c0018t0005	a0001c0002t0001g0084 a0001c0002t0001g0232 a0001c0002t0001g0245 others(14): Show a0001c0002t0001g0084 a0001c0002t0001g0232 a0001c0002t0001g0245 a0001c0002t0009g0235 a0001c0003t0001g0011 a0001c0003t0005g0281 a0001c0003t0005g0282 a0001c0003t0005g0283 a0001c0004t0001g0005 a0001c0004t0001g0224 a0001c0004t0001g0243 a0001c0005t0002g0210 a0001c0007t0003g0197 a0001c0007t0013g0002 a0001c0038t0001g0234 a0001c0040t0001g0236 a0004c0018t0005g0294	17	298	0.0571	-15	c.-46 others(26): Show c.-4608_-4594delATGCTATGCTATGCT	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding		4213		chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94166524	GTATTATT others(8): Show GTATTATTATTATTAT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02647.hp1 NA18954.hp2 others(1): Show HG01109.hp1 HG02647.hp1 NA18954.hp2 NA18959.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0032 a0001c0001 a0001c0002 a0007c0032	a0001c0001t0006 a0001c0002t0001 a0001c0002t0012 others(1): Show a0001c0001t0006 a0001c0002t0001 a0001c0002t0012 a0007c0032t0001	a0001c0001t0006g0140 a0001c0002t0001g0215 a0001c0002t0012g0216 others(1): Show a0001c0001t0006g0140 a0001c0002t0001g0215 a0001c0002t0012g0216 a0007c0032t0001g0090	4	298	0.0134	-15	c.106 others(34): Show c.1063-2599_1063-2585delTTATTATTATTATTA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLXNC1_chr12_94143577_94312675	94275854	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0056 a0001c0003t0001g0056	1	298	0.0034	-15	c.359 others(34): Show c.3598-3605_3598-3591delAAAAAAAAAAAAAAA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMF1_chr1_156208007_156245042	156238312	CACATCTA others(8): Show CACATCTAACACATAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	364	0.0028	-15	c.565 others(32): Show c.565-1235_565-1221delACATCTAACACATAT	PMF1	ENSG00000160783.19	transcript	ENST00000368277.3	protein_coding	4/4			chr1	TogoVar
PMM2_chr16_8792839_8854325	8813857	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	2	408	0.0049	-15	c.639 others(30): Show c.639+762_639+776delTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMS1_chr2_189779450_189882629	189860800	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03540.hp1 NA18522.hp2 HG02615.hp2 HG03540.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0021 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0001g0021 a0001c0001t0002g0039 a0001c0001t0002g0040	3	234	0.0128	-15	c.185 others(34): Show c.1857-2918_1857-2904delTTTTTTTTTTTTTTT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864688	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01123.hp2 HG02257.hp2 HG00099.hp1 HG01123.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0002g0051 a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0002g0051	3	234	0.0128	-15	c.234 others(32): Show c.2342+461_2342+475delTATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12			chr2	TogoVar
PMS2_chr7_5965925_6014049	5980320	ACAGGGGC others(8): Show ACAGGGGCTGGCAGGG	A A	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0262 a0001c0002t0002g0262	1	408	0.0025	-15	c.217 others(34): Show c.2175-1639_2175-1625delCCCTGCCAGCCCCTG	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding	12/14			chr7	TogoVar
PMS2_chr7_5965925_6014049	6013255	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0020 a0020	a0020c0042 a0020c0042	a0020c0042t0002 a0020c0042t0002	a0020c0042t0002g0279 a0020c0042t0002g0279	1	408	0.0025	-15	c.-42 others(26): Show c.-4251_-4237delAAAAAAAAAAAAAAA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		4207		chr7	TogoVar
PMVK_chr1_154919740_154941719	154927448	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	294	0.0034	-15	c.313 others(30): Show c.313-980_313-966delTTTTTTTTTTTTTTT	PMVK	ENSG00000163344.6	transcript	ENST00000368467.4	protein_coding	3/4			chr1	TogoVar
PNISR_chr6_99393050_99430308	99419176	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03710.hp1 NA18939.hp1 others(5): Show HG01081.hp2 HG03710.hp1 NA18939.hp1 NA18948.hp1 NA19001.hp2 NA19067.hp2 NA19072.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0019 a0001c0001t0002g0176 a0001c0001t0002g0183 others(3): Show a0001c0001t0002g0019 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0003g0051	8	406	0.0197	-15	c.-11 others(34): Show c.-111-2763_-111-2749delCTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNLIPRP1_chr10_116585959_116614175	116599256	GAAAATAA others(8): Show GAAAATAAAATAAAAT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02818.hp1 HG02922.hp2 HG03017.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18953.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18981.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18999.hp2 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19043.hp2 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19067.hp1 NA19078.hp1 NA19079.hp1 NA19083.hp2 NA19085.hp1 NA20129.hp1 NA20300.hp1 NA20905.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0007	a0001c0001 a0001c0002 a0003c0004 others(2): Show a0001c0001 a0001c0002 a0003c0004 a0005c0009 a0007c0013	a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0003c0004t0001 a0005c0009t0001 a0007c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0018 others(57): Show a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0172 a0001c0001t0001g0181 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0237 a0001c0002t0001g0183 a0003c0004t0001g0004 a0003c0004t0001g0021 a0003c0004t0001g0022 a0003c0004t0001g0043 a0003c0004t0001g0044 a0003c0004t0001g0077 a0003c0004t0001g0131 a0003c0004t0001g0173 a0003c0004t0001g0175 a0003c0004t0001g0176 a0003c0004t0001g0178 a0003c0004t0001g0182 a0003c0004t0001g0193 a0003c0004t0001g0199 a0003c0004t0001g0208 a0003c0004t0001g0209 a0003c0004t0001g0210 a0003c0004t0001g0211 a0003c0004t0001g0214 a0003c0004t0001g0217 a0003c0004t0001g0220 a0005c0009t0001g0002 a0005c0009t0001g0042 a0007c0013t0001g0039	117	420	0.2786	-15	c.815 others(30): Show c.815-761_815-747delTAAAATAAAATAAAA	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP1_chr10_116585959_116614175	116606882	TGGATATA others(8): Show TGGATATAAGACATCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	420	0.0024	-15	c.134 others(34): Show c.1340+1332_1340+1346delATATAAGACATCAGG	PNLIPRP1	ENSG00000187021.15	transcript	ENST00000358834.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PNLIPRP3_chr10_116422847_116482957	116482349	TCCCAATT others(8): Show TCCCAATTCTTCTTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02809.hp2 HG02886.hp2 HG02572.hp1 HG02809.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0003 a0001c0014t0002 a0001c0001t0003 a0001c0014t0002	a0001c0001t0003g0158 a0001c0001t0003g0169 a0001c0014t0002g0216 a0001c0001t0003g0158 a0001c0001t0003g0169 a0001c0014t0002g0216	3	288	0.0104	-15	c.51 others(26): Show c.5197_*5211delCCCAATTCTTCTTCA	PNLIPRP3	ENSG00000203837.5	transcript	ENST00000369230.4	protein_coding		4393		chr10	TogoVar
PNMA5_chrX_152983824_152999116	152989539	TCCCCTCT others(8): Show TCCCCTCTTCCTCCTC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0027 a0001c0001t0009g0027	1	286	0.0035	-15	c.69 others(24): Show c.698_*712delGAGGAGGAAGAGGGG	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding	4/4	698		chrX	TogoVar
PNMA8B_chr19_46486191_46500867	46498944	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG01070.hp1 others(21): Show HG00099.hp2 HG00423.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01256.hp1 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp1 HG03516.hp1 NA18956.hp2 NA18959.hp1 NA18961.hp1 NA18979.hp1 NA19003.hp2 NA19043.hp2	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0008 a0021	a0001c0001 a0001c0006 a0003c0003 others(3): Show a0001c0001 a0001c0006 a0003c0003 a0006c0011 a0008c0012 a0021c0023	a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0011 a0001c0006t0004 a0003c0003t0003 a0006c0011t0007 a0008c0012t0003 a0021c0023t0004	a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(5): Show a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 a0001c0006t0004g0000 a0003c0003t0003g0000 a0006c0011t0007g0000 a0008c0012t0003g0000 a0021c0023t0004g0000	24	426	0.0563	-15	c.-34 others(26): Show c.-3494_-3480delTTTTTTTTTTTTTTT	PNMA8B	ENSG00000204851.7	transcript	ENST00000599531.2	protein_coding		3078		chr19	TogoVar
PNOC_chr8_28312268_28348351	28320084	CTTTCTTT others(8): Show CTTTCTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 NA20300.hp2 HG02486.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0270 a0001c0001t0001g0275	2	424	0.0047	-15	c.-24 others(32): Show c.-24+2772_-24+2786delCTTTCTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28320088	CTTTCTTT others(8): Show CTTTCTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	424	0.0024	-15	c.-24 others(32): Show c.-24+2776_-24+2790delCTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA6_chr19_7530717_7566764	7563453	CTATTATT others(8): Show CTATTATTATTATTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG01891.hp1 HG01934.hp1 others(20): Show HG00733.hp2 HG01891.hp1 HG01934.hp1 HG02040.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG03239.hp1 HG03471.hp2 HG03927.hp1 HG04228.hp2 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18953.hp2 NA18959.hp1 NA18982.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0012 a0016	a0001c0001 a0001c0002 a0001c0007 others(9): Show a0001c0001 a0001c0002 a0001c0007 a0001c0009 a0001c0017 a0002c0003 a0003c0006 a0003c0011 a0004c0008 a0005c0029 a0012c0019 a0016c0037	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0009t0001 a0001c0017t0001 a0002c0003t0001 a0003c0006t0001 a0003c0011t0001 a0004c0008t0001 a0005c0029t0001 a0012c0019t0001 a0016c0037t0001	a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0091 others(20): Show a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0091 a0001c0001t0001g0119 a0001c0001t0001g0201 a0001c0001t0001g0259 a0001c0002t0001g0012 a0001c0007t0001g0089 a0001c0007t0001g0247 a0001c0009t0001g0218 a0001c0017t0001g0320 a0002c0003t0001g0065 a0002c0003t0001g0147 a0002c0003t0001g0192 a0003c0006t0001g0069 a0003c0006t0001g0206 a0003c0006t0001g0207 a0003c0006t0001g0211 a0003c0011t0001g0209 a0004c0008t0001g0344 a0005c0029t0001g0047 a0012c0019t0001g0299 a0016c0037t0001g0085	23	416	0.0553	-15	c.18 others(26): Show c.1892_*1906delTATTATTATTATTAT	PNPLA6	ENSG00000032444.17	transcript	ENST00000600737.6	protein_coding		1690		chr19	TogoVar
PNPLA8_chr7_108465417_108531135	108492537	GCTTTTAG others(8): Show GCTTTTAGTGAATTCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(77): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp1 HG01261.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02735.hp2 HG02818.hp1 HG02976.hp2 HG03239.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp1 NA18988.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0008 a0001c0001 a0001c0002 a0010c0008	a0001c0001t0001 a0001c0001t0022 a0001c0001t0024 others(2): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0024 a0001c0002t0001 a0010c0008t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(74): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0249 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0022g0325 a0001c0001t0024g0322 a0001c0002t0001g0314 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0317 a0010c0008t0001g0319	80	390	0.2051	-15	c.162 others(34): Show c.1626-1085_1626-1071delTGAATTCACTAAAAG	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	7/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505331	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA19067.hp2 HG02074.hp2 NA19067.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0008 a0001c0001 a0010c0008	a0001c0001t0001 a0010c0008t0001 a0001c0001t0001 a0010c0008t0001	a0001c0001t0001g0329 a0010c0008t0001g0319 a0001c0001t0001g0329 a0010c0008t0001g0319	2	390	0.0051	-15	c.120 others(34): Show c.1207-2704_1207-2690delTATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505333	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03688.hp2 NA18940.hp1 others(4): Show HG02135.hp2 HG03688.hp2 NA18940.hp1 NA18960.hp1 NA18967.hp2 NA18994.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0323 a0001c0001t0001g0324 others(3): Show a0001c0001t0001g0021 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0333 a0001c0001t0001g0345 a0001c0001t0001g0355	7	390	0.0180	-15	c.120 others(34): Show c.1207-2706_1207-2692delTATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505335	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01074.hp2 HG02109.hp2 others(13): Show HG00738.hp2 HG01074.hp2 HG02109.hp2 HG02135.hp1 HG02572.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03831.hp1 NA18522.hp2 NA18955.hp1 NA18960.hp2 NA18981.hp1 NA18988.hp1 NA18989.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0001 a0001c0001t0003 a0001c0001t0012	a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0347 others(10): Show a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0347 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0128 a0001c0001t0012g0099 a0001c0001t0012g0123	16	390	0.0410	-15	c.120 others(34): Show c.1207-2708_1207-2694delTATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505337	TATATATA others(8): Show TATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 NA18949.hp2 NA18968.hp2 others(4): Show HG00323.hp2 NA18949.hp2 NA18968.hp2 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0019 a0001c0001t0003 a0001c0001t0006 a0001c0001t0019	a0001c0001t0003g0108 a0001c0001t0003g0113 a0001c0001t0003g0120 others(4): Show a0001c0001t0003g0108 a0001c0001t0003g0113 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0127 a0001c0001t0006g0111 a0001c0001t0019g0085	7	390	0.0180	-15	c.120 others(34): Show c.1207-2710_1207-2696delTATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505338	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA18965.hp2 HG00099.hp2 NA18965.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0016 a0001c0001 a0008c0016	a0001c0001t0001 a0008c0016t0003 a0001c0001t0001 a0008c0016t0003	a0001c0001t0001g0351 a0008c0016t0003g0126 a0001c0001t0001g0351 a0008c0016t0003g0126	2	390	0.0051	-15	c.120 others(34): Show c.1207-2711_1207-2697delATATATATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505348	ATATATTT others(8): Show ATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03195.hp1 HG00735.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0077 a0001c0001t0002g0046 a0001c0001t0002g0077	2	390	0.0051	-15	c.120 others(34): Show c.1207-2721_1207-2707delAAAAAAAAAAATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPO_chr17_47936571_47954308	47937266	AAAAAGGT others(8): Show AAAAAGGTGGTTTAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	380	0.0026	-15	c.-44 others(26): Show c.-4409_-4395delAAAAGGTGGTTTAAG	PNPO	ENSG00000108439.11	transcript	ENST00000642017.2	protein_coding		4304		chr17	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02293.hp2 HG02717.hp2 others(1): Show HG01952.hp2 HG02293.hp2 HG02717.hp2 HG03490.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0008 a0002c0002t0002 a0001c0001t0001 a0001c0001t0008 a0002c0002t0002	a0001c0001t0001g0041 a0001c0001t0008g0195 a0002c0002t0002g0258 others(1): Show a0001c0001t0001g0041 a0001c0001t0008g0195 a0002c0002t0002g0258 a0002c0002t0002g0273	4	390	0.0103	-15	c.128 others(34): Show c.1285-1500_1285-1486delTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55694980	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	390	0.0026	-15	c.-11 others(26): Show c.-1172_-1158delTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1137		chr2	TogoVar
POC5_chr5_75669124_75722437	75712789	TTTTCCCT others(8): Show TTTTCCCTTACATTCA	T T	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	380	0.0026	-15	c.84+ others(26): Show c.84+50_84+64delTGAATGTAAGGGAAA	POC5	ENSG00000152359.15	transcript	ENST00000428202.7	protein_coding	2/11			chr5	TogoVar
POGLUT1_chr3_119463963_119499708	119495225	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01943.hp1 others(6): Show HG01257.hp1 HG01258.hp2 HG01943.hp1 HG01978.hp1 HG02129.hp2 HG02698.hp2 NA19000.hp1 NA19067.hp2 NA19078.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0006 a0001c0001 a0001c0002 a0010c0006	a0001c0001t0003 a0001c0002t0002 a0010c0006t0002 a0001c0001t0003 a0001c0002t0002 a0010c0006t0002	a0001c0001t0003g0017 a0001c0002t0002g0001 a0001c0002t0002g0053 others(2): Show a0001c0001t0003g0017 a0001c0002t0002g0001 a0001c0002t0002g0053 a0001c0002t0002g0058 a0010c0006t0002g0001	9	422	0.0213	-15	c.27 others(26): Show c.2788_*2802delAAAAAAAAAAAAAAA	POGLUT1	ENSG00000163389.12	transcript	ENST00000295588.9	protein_coding		518		chr3	TogoVar
POGLUT3_chr11_108467116_108503384	108498956	TTTATTAT others(8): Show TTTATTATTATTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18985.hp2 NA18986.hp1 NA19068.hp1 others(2): Show NA18985.hp2 NA18986.hp1 NA19068.hp1 NA19077.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0032 a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0001g0032 a0001c0001t0002g0001 a0001c0001t0002g0027	5	344	0.0145	-15	c.-60 others(24): Show c.-605_-591delTAATAATAATAATAA	POGLUT3	ENSG00000178202.14	transcript	ENST00000323468.10	protein_coding		573		chr11	TogoVar
POGZ_chr1_151397724_151464494	151430904	CTTTATTT others(8): Show CTTTATTTTATTTTAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp1 HG01123.hp2 others(20): Show HG00140.hp2 HG00735.hp1 HG01123.hp2 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01361.hp2 HG02071.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02735.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 NA18970.hp2 NA19009.hp1 NA19043.hp2 NA19055.hp2 NA19060.hp1 NA20752.hp1 NA20805.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0007c0012t0001	a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0003g0126 others(20): Show a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0003g0126 a0001c0001t0003g0152 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0145 a0001c0001t0004g0146 a0001c0001t0004g0147 a0001c0001t0004g0148 a0001c0001t0004g0149 a0001c0001t0004g0151 a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0004g0159 a0001c0001t0012g0009 a0007c0012t0001g0226	23	320	0.0719	-15	c.284 others(28): Show c.284-78_284-64delATAAAATAAAATAAA	POGZ	ENSG00000143442.24	transcript	ENST00000271715.7	protein_coding	3/18			chr1	TogoVar
POLA1_chrX_24688918_25001986	24753317	CTATTTTA others(8): Show CTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00558.hp1 others(55): Show HG00140.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG01106.hp1 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02129.hp1 HG02135.hp1 HG02148.hp2 HG02273.hp2 HG02280.hp2 HG02559.hp1 HG02630.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03490.hp1 HG03688.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18952.hp1 NA18960.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA19012.hp1 NA19030.hp2 NA19067.hp1 NA19082.hp1 NA19083.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0004 a0001c0001 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0008t0001 a0002c0004t0001	a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(55): Show a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0130 a0001c0001t0001g0159 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0007g0060 a0001c0008t0001g0031 a0002c0004t0001g0068	58	197	0.2944	-15	c.296 others(34): Show c.2964+4363_2964+4377delTTTTATTTTATTTTA	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24793277	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	197	0.0051	-15	c.296 others(36): Show c.2965-16606_2965-16592delAAAAAAAAAAAAAAA	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24803930	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	197	0.0051	-15	c.296 others(34): Show c.2965-5951_2965-5937delAAAAAAAAAAAAAAA	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02897.hp2 HG02922.hp1 others(4): Show HG02293.hp2 HG02897.hp2 HG02922.hp1 HG03710.hp1 HG04115.hp1 NA18612.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0001c0001t0001 a0001c0001t0002 a0001c0008t0001	a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0169 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0002g0141 a0001c0008t0001g0031	7	197	0.0355	-15	c.296 others(34): Show c.2965-3803_2965-3789delTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42359903	AAAATAGT others(8): Show AAAATAGTTTCCATGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	314	0.0032	-15	c.551 others(32): Show c.551-1390_551-1376delAATAGTTTCCATGGA	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
POLD1_chr19_50379347_50423014	50400133	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	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 a0003c0039	a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 others(1): Show a0002c0015t0001 a0003c0006t0001 a0003c0012t0001 a0003c0039t0001	a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 others(11): Show a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 a0003c0006t0001g0034 a0003c0006t0001g0035 a0003c0006t0001g0036 a0003c0006t0001g0037 a0003c0006t0001g0038 a0003c0006t0001g0040 a0003c0006t0001g0041 a0003c0012t0001g0039 a0003c0012t0001g0042 a0003c0012t0001g0043 a0003c0039t0001g0100	14	336	0.0417	-15	c.316 others(30): Show c.316+663_316+677delTTTTTTTTTTTTTTT	POLD1	ENSG00000062822.16	transcript	ENST00000440232.7	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
POLD3_chr11_74587582_74648076	74588262	ATCAAAAG others(8): Show ATCAAAAGTATATACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18954.hp2 NA19007.hp1 NA18950.hp1 NA18954.hp2 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258	3	400	0.0075	-15	c.-43 others(26): Show c.-4396_-4382delTCAAAAGTATATACC	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding		4319		chr11	TogoVar
POLD3_chr11_74587582_74648076	74609362	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18991.hp2 NA19002.hp1 others(3): Show HG00621.hp1 NA18991.hp2 NA19002.hp1 NA19010.hp2 NA19054.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(3): Show a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0221 a0001c0001t0001g0303	6	400	0.0150	-15	c.220 others(32): Show c.220-2135_220-2121delATATATATATTTTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar

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