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
PLCH2_chr1_2471289_2510532	2483791	GGGCGCTG others(16): Show GGGCGCTGACCCCCGTGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02965.hp2 others(2): Show HG02615.hp1 HG02723.hp1 HG02965.hp2 HG03195.hp2 NA18906.hp1	a0001 a0003 a0020 a0001 a0003 a0020	a0001c0001 a0003c0008 a0020c0037 a0001c0001 a0003c0008 a0020c0037	a0001c0001t0001 a0003c0008t0001 a0003c0008t0002 others(1): Show a0001c0001t0001 a0003c0008t0001 a0003c0008t0002 a0020c0037t0001	a0001c0001t0001g0101 a0003c0008t0001g0056 a0003c0008t0002g0054 others(2): Show a0001c0001t0001g0101 a0003c0008t0001g0056 a0003c0008t0002g0054 a0003c0008t0002g0055 a0020c0037t0001g0125	5	373	0.0134	-23	c.646 others(38): Show c.646-612_646-590delGTGGCGCTGACCCCCGTGTGGGG	PLCH2	ENSG00000149527.18	transcript	ENST00000378486.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLCL1_chr2_197799593_198154863	197886411	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0006 a0002c0007t0006	a0002c0007t0006g0012 a0002c0007t0006g0012	1	2	0.5000	-23	c.240 others(42): Show c.240+81091_240+81113delAAAAAAAAAAAAAAAAAAAAAAA	PLCL1	ENSG00000115896.17	transcript	ENST00000428675.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLD1_chr3_171595404_171815483	171764888	AAAGAAAG others(16): Show AAAGAAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18962.hp1 HG03540.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0004 a0002c0003t0003 a0002c0003t0004	a0002c0003t0003g0072 a0002c0003t0004g0091 a0002c0003t0003g0072 a0002c0003t0004g0091	2	239	0.0084	-23	c.-31 others(42): Show c.-31-26829_-31-26807delCTTCCTTCCTTCCTTCCTTTCTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD1_chr3_171595404_171815483	171764954	GAAAGAAA others(16): Show GAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0063 a0001c0001t0001g0071	2	281	0.0071	-23	c.-31 others(42): Show c.-31-26895_-31-26873delTTTCTTTCTTTCTTTCTTTCTTT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	1/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242162009	AAGGCTAG others(16): Show AAGGCTAGTTATTGCCTATTTGGT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0024 a0001c0001t0005g0024	1	186	0.0054	-23	c.736 others(42): Show c.736-37367_736-37345delACCAAATAGGCAATAACTAGCCT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEKHA2_chr8_38896346_38978912	38899711	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0359 a0001c0001t0002g0359	1	374	0.0027	-23	c.-17 others(34): Show c.-1757_-1735delTGTGTGTGTGTGTGTGTGTGTGT	PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding		1634		chr8	TogoVar
PLEKHA7_chr11_16772297_17019414	16887336	CCCTCTCC others(16): Show CCCTCTCCCTCTCCCCACGGTCTG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00544.hp2 others(45): Show HG00280.hp2 HG00408.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01928.hp2 HG01934.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02071.hp1 HG02080.hp2 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02523.hp1 HG02717.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA18952.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp2 NA18970.hp1 NA18975.hp1 NA18979.hp1 NA18983.hp2 NA18994.hp2 NA19002.hp2 NA19010.hp1 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19088.hp2	a0001 a0008 a0013 a0001 a0008 a0013	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0012 a0001c0022 a0008c0025 a0013c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0008t0005 a0001c0009t0004 a0001c0012t0002 a0001c0022t0016 a0008c0025t0005 a0013c0024t0002	a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0020 others(45): Show a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0064 a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0054 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0067 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0147 a0001c0001t0003g0005 a0001c0001t0003g0017 a0001c0001t0003g0060 a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0107 a0001c0001t0003g0141 a0001c0001t0003g0143 a0001c0003t0001g0178 a0001c0003t0001g0196 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0002g0197 a0001c0003t0003g0235 a0001c0003t0003g0236 a0001c0008t0005g0051 a0001c0009t0004g0072 a0001c0009t0004g0102 a0001c0012t0002g0015 a0001c0012t0002g0142 a0001c0012t0002g0151 a0001c0022t0016g0153 a0008c0025t0005g0029 a0013c0024t0002g0041	48	235	0.2043	-23	c.222 others(42): Show c.222-16177_222-16155delCAGACCGTGGGGAGAGGGAGAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16887382	GCCTCTCC others(16): Show GCCTCTCCCTCTCCCCACGGTCTC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00609.hp2 others(18): Show HG00099.hp2 HG00280.hp1 HG00609.hp2 HG01069.hp2 HG01081.hp1 HG01168.hp2 HG01175.hp2 HG01346.hp1 HG02080.hp1 HG02523.hp2 HG02615.hp2 HG02809.hp2 HG03209.hp1 HG03239.hp1 HG03834.hp2 NA18969.hp1 NA18971.hp2 NA19056.hp2 NA19088.hp1 NA19091.hp1 NA21309.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0001c0008 others(4): Show a0001c0001 a0001c0003 a0001c0008 a0001c0015 a0001c0018 a0001c0040 a0010c0038	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0008t0005 a0001c0015t0006 a0001c0018t0006 a0001c0040t0001 a0010c0038t0002	a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0106 others(18): Show a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0106 a0001c0001t0001g0126 a0001c0001t0002g0044 a0001c0001t0002g0062 a0001c0001t0002g0088 a0001c0001t0002g0101 a0001c0001t0002g0122 a0001c0001t0002g0136 a0001c0001t0003g0033 a0001c0001t0003g0070 a0001c0001t0003g0154 a0001c0003t0001g0189 a0001c0003t0001g0229 a0001c0003t0002g0231 a0001c0008t0005g0112 a0001c0015t0006g0215 a0001c0018t0006g0199 a0001c0040t0001g0166 a0010c0038t0002g0165	21	242	0.0868	-23	c.222 others(42): Show c.222-16223_222-16201delGAGACCGTGGGGAGAGGGAGAGG	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHA7_chr11_16772297_17019414	16977309	GGCTCCCA others(16): Show GGCTCCCACTTCTCAACTTCAAGA	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0201 a0001c0003t0011g0201	1	242	0.0041	-23	c.221 others(42): Show c.221+36657_221+36679delTCTTGAAGTTGAGAAGTGGGAGC	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHG1_chr6_150594885_150848665	150810496	GAGGGAAA others(16): Show GAGGGAAAGAAAGAAAGAAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0093 a0001c0001t0022g0093	1	223	0.0045	-23	c.127 others(40): Show c.1278+764_1278+786delGGGAAAGAAAGAAAGAAAAAGAA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG4B_chr5_87168_194966	135677	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18971.hp1 HG01255.hp1 NA18971.hp1	a0001 a0005 a0001 a0005	a0001c0048 a0005c0008 a0001c0048 a0005c0008	a0001c0048t0002 a0005c0008t0081 a0001c0048t0002 a0005c0008t0081	a0001c0048t0002g0057 a0005c0008t0081g0090 a0001c0048t0002g0057 a0005c0008t0081g0090	2	203	0.0099	-23	c.244 others(40): Show c.244-3804_244-3782delAAAAATATATATATATATATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	135679	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00597.hp1 HG00733.hp1 others(4): Show HG00140.hp1 HG00597.hp1 HG00733.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01978.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0021	a0001c0001 a0001c0002 a0002c0005 others(2): Show a0001c0001 a0001c0002 a0002c0005 a0003c0004 a0021c0031	a0001c0001t0025 a0001c0001t0070 a0001c0002t0030 others(3): Show a0001c0001t0025 a0001c0001t0070 a0001c0002t0030 a0002c0005t0096 a0003c0004t0006 a0021c0031t0071	a0001c0001t0025g0053 a0001c0001t0025g0054 a0001c0001t0070g0045 others(4): Show a0001c0001t0025g0053 a0001c0001t0025g0054 a0001c0001t0070g0045 a0001c0002t0030g0137 a0002c0005t0096g0123 a0003c0004t0006g0015 a0021c0031t0071g0107	7	200	0.0350	-23	c.244 others(40): Show c.244-3802_244-3780delAAATATATATATATATATATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG7_chr12_92697989_92777455	92761607	AAAAGAAA others(16): Show AAAAGAAAGAAAGAAAGAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	250	0.0040	-23	c.163 others(40): Show c.1637-126_1637-104delGAAAGAAAGAAAGAAAGAAAGAA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHH1_chr14_67528290_67594612	67579060	TAGATAGG others(16): Show TAGATAGGGATCCGGGGTGCCAAA	T T	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0189 a0002c0004t0003g0189	1	412	0.0024	-23	c.285 others(38): Show c.2850-73_2850-51delAGATAGGGATCCGGGGTGCCAAA	PLEKHH1	ENSG00000054690.14	transcript	ENST00000329153.10	protein_coding	20/28			chr14	TogoVar
PLEKHM3_chr2_207816288_208030527	207918521	CAACAAAC others(16): Show CAACAAACAAACAAACAAACAAAA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02976.hp2 HG03041.hp2 others(5): Show HG02258.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp2 HG03579.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0001t0050 others(2): Show a0001c0001t0005 a0001c0001t0016 a0001c0001t0050 a0001c0002t0005 a0001c0002t0051	a0001c0001t0005g0088 a0001c0001t0016g0005 a0001c0001t0050g0123 others(5): Show a0001c0001t0005g0088 a0001c0001t0016g0005 a0001c0001t0050g0123 a0001c0002t0005g0159 a0001c0002t0005g0161 a0001c0002t0005g0162 a0001c0002t0005g0183 a0001c0002t0051g0160	8	190	0.0421	-23	c.188 others(42): Show c.1887-9967_1887-9945delTTTTGTTTGTTTGTTTGTTTGTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	208020156	CACAGGTA others(16): Show CACAGGTAAACTGGCTAATGCGAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	198	0.0051	-23	c.-31 others(42): Show c.-319+5210_-319+5232delCTCGCATTAGCCAGTTTACCTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHO1_chr1_150144916_150165065	150156832	ATAATCTC others(16): Show ATAATCTCTTATTTCTTCATTGTC	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0076 a0006c0010t0001g0076	1	424	0.0024	-23	c.319 others(36): Show c.319-78_319-56delTAATCTCTTATTTCTTCATTGTC	PLEKHO1	ENSG00000023902.14	transcript	ENST00000369124.5	protein_coding	3/5			chr1	TogoVar
PLEKHO2_chr15_64836915_64873002	64840105	CTTCCTTT others(16): Show CTTCCTTTCTTTCTCTCTTTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02622.hp1 HG02630.hp2 others(3): Show HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02886.hp2 HG03225.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0026 a0001c0001t0010g0039 a0001c0001t0010g0163 others(1): Show a0001c0001t0004g0026 a0001c0001t0010g0039 a0001c0001t0010g0163 a0001c0001t0010g0183	6	320	0.0188	-23	c.-19 others(34): Show c.-1911_-1889delTTCCTTTCTTTCTCTCTTTTTCT	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		1809		chr15	TogoVar
PLEKHS1_chr10_113746682_113788429	113785349	TATATATA others(16): Show TATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0244 a0001c0001t0015g0244	1	400	0.0025	-23	c.45 others(34): Show c.4569_*4591delATATATATATATATATATATATA	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		1921		chr10	TogoVar
PLK1_chr16_23673889_23695367	23684957	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	7	0.1429	-23	c.103 others(40): Show c.1036+888_1036+910delTTTTTTTTTTTTTTTTTTTTTTT	PLK1	ENSG00000166851.15	transcript	ENST00000300093.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLPP4_chr10_120452227_120597065	120457158	TGCCCCCG others(16): Show TGCCCCCGCCCGGCGCCCGCCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0321 a0001c0001t0007g0321	1	326	0.0031	-23	c.-14 others(32): Show c.-147_-125delGCCCCCGCCCGGCGCCCGCCTCC	PLPP4	ENSG00000203805.11	transcript	ENST00000398250.6	protein_coding		68		chr10	TogoVar
PLPPR1_chr9_101023727_101330135	101078165	AAGAAGAA others(16): Show AAGAAGAAGAAGAAGAAGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0039 a0001c0003t0001g0039	1	199	0.0050	-23	c.-46 others(42): Show c.-46+49066_-46+49088delAAGAAGAAGAAGAAGAAGAGGAG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLXDC2_chr10_19811432_20294856	19988776	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0142 a0001c0001t0017g0142	1	20	0.0500	-23	c.113 others(42): Show c.113-12984_113-12962delTTTTTTTTTTTTTTTTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNB2_chr22_50269979_50312646	50307780	GAGGGGGG others(16): Show GAGGGGGGAGAGGGGGAGGGGGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0003 a0004c0026t0003	a0004c0026t0003g0261 a0004c0026t0003g0261	1	299	0.0033	-23	c.-32 others(32): Show c.-324_-302delTCCCCCCTCCCCCTCTCCCCCCT	PLXNB2	ENSG00000196576.16	transcript	ENST00000359337.9	protein_coding		135		chr22	TogoVar
PMS1_chr2_189779450_189882629	189818642	TAGTTTTA others(16): Show TAGTTTTATCTTTATTACATAAAG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	232	0.0043	-23	c.582 others(38): Show c.582+466_582+488delTTTATCTTTATTACATAAAGAGT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189860800	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG03453.hp1 HG02280.hp1 HG02559.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0018 a0001c0003t0001g0046 a0001c0003t0001g0048 a0001c0003t0001g0018 a0001c0003t0001g0046 a0001c0003t0001g0048	3	46	0.0652	-23	c.185 others(42): Show c.1857-2926_1857-2904delTTTTTTTTTTTTTTTTTTTTTTT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864680	AAAAAAAA others(16): Show AAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	232	0.0043	-23	c.234 others(40): Show c.2342+454_2342+476delAAAAAAATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864684	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0219 a0001c0001t0003g0219	1	223	0.0045	-23	c.234 others(40): Show c.2342+458_2342+480delAAATATATATATATATATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS1_chr2_189779450_189882629	189864688	ATATATAT others(16): Show ATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 NA18964.hp2 others(1): Show HG02717.hp1 HG02970.hp2 NA18964.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0088 others(1): Show a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0088 a0001c0001t0007g0212	4	202	0.0198	-23	c.234 others(40): Show c.2342+461_2342+483delTATATATATATATATATATATAT	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12			chr2	TogoVar
PMS2_chr7_5965925_6014049	5975918	TGTTTTTC others(16): Show TGTTTTTCTCTTGTCATTTCCTGC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	406	0.0025	-23	c.244 others(42): Show c.2445+1647_2445+1669delGCAGGAAATGACAAGAGAAAAAC	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding	14/14			chr7	TogoVar
PNISR_chr6_99393050_99430308	99419168	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA19000.hp1 NA18944.hp2 NA19000.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0029 a0001c0003t0001g0029	2	404	0.0050	-23	c.-11 others(42): Show c.-111-2763_-111-2741delCTTTTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNMA5_chrX_152983824_152999116	152996355	AACAGTGA others(16): Show AACAGTGAAGGTTAAGAAACCCTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	284	0.0035	-23	c.-26 others(34): Show c.-2675_-2653delGAGGGTTTCTTAACCTTCACTGT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		2240		chrX	TogoVar
PNMA6A_chrX_153067454_153080019	153069038	AGGGGAGA others(16): Show AGGGGAGAGAATCTTGGCTGCTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0005 a0005c0012t0005	a0005c0012t0005g0002 a0005c0012t0005g0002	1	84	0.0119	-23	c.-36 others(34): Show c.-3696_-3674delGGGGAGAGAATCTTGGCTGCTTT	PNMA6A	ENSG00000235961.6	transcript	ENST00000421798.5	protein_coding		3415		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137551669	CGCCCCGC others(16): Show CGCCCCGCGAGCCCCGCCCCGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01123.hp2 HG01361.hp2 others(10): Show HG00642.hp1 HG01123.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp2 HG02109.hp1 HG02886.hp2 HG02922.hp2 HG03041.hp1 HG03579.hp1 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0027 a0002c0004 a0006c0017 a0007c0009 a0009c0013	a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0006t0002 a0001c0027t0001 a0002c0004t0001 a0006c0017t0001 a0007c0009t0001 a0009c0013t0001	a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0118 others(10): Show a0001c0001t0001g0107 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0002t0001g0111 a0001c0002t0001g0114 a0001c0002t0001g0117 a0001c0006t0002g0170 a0001c0027t0001g0169 a0002c0004t0001g0171 a0006c0017t0001g0112 a0007c0009t0001g0115 a0007c0009t0001g0116 a0009c0013t0001g0151	13	179	0.0726	-23	c.-14 others(34): Show c.-1495_-1473delTCGCGGGGCGGGGCTCGCGGGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1268		chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137551683	CGCCCCGC others(16): Show CGCCCCGCGAGCCCCGCCCCGCGA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00597.hp2 others(29): Show HG00423.hp1 HG00558.hp1 HG00597.hp2 HG00738.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01361.hp1 HG01496.hp2 HG01928.hp1 HG01928.hp2 HG02071.hp1 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02897.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp2 NA18951.hp2 NA19007.hp2 NA19066.hp2 NA19070.hp1 NA19080.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0005 others(7): Show a0001 a0002 a0005 a0007 a0009 a0010 a0013 a0017 a0020 a0024	a0001c0001 a0001c0002 a0001c0040 others(12): Show a0001c0001 a0001c0002 a0001c0040 a0001c0047 a0002c0003 a0002c0004 a0005c0053 a0007c0009 a0009c0013 a0009c0030 a0010c0039 a0013c0016 a0017c0049 a0020c0034 a0024c0036	a0001c0001t0001 a0001c0002t0001 a0001c0040t0001 others(12): Show a0001c0001t0001 a0001c0002t0001 a0001c0040t0001 a0001c0047t0001 a0002c0003t0001 a0002c0004t0001 a0005c0053t0001 a0007c0009t0001 a0009c0013t0001 a0009c0030t0001 a0010c0039t0001 a0013c0016t0003 a0017c0049t0001 a0020c0034t0001 a0024c0036t0001	a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 others(29): Show a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0002t0001g0131 a0001c0002t0001g0142 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0040t0001g0139 a0001c0047t0001g0147 a0002c0003t0001g0134 a0002c0004t0001g0155 a0005c0053t0001g0132 a0007c0009t0001g0152 a0009c0013t0001g0163 a0009c0030t0001g0124 a0010c0039t0001g0068 a0013c0016t0003g0135 a0017c0049t0001g0136 a0020c0034t0001g0062 a0024c0036t0001g0153	32	167	0.1916	-23	c.-15 others(34): Show c.-1509_-1487delTCGCGGGGCGGGGCTCGCGGGGC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding		1282		chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108505327	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0252	1	363	0.0028	-23	c.120 others(42): Show c.1207-2708_1207-2686delTATATATATATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPLA8_chr7_108465417_108531135	108505329	TATATATA others(16): Show TATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02004.hp1 HG02300.hp1 others(1): Show HG01993.hp1 HG02004.hp1 HG02300.hp1 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0226 others(1): Show a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0003g0021	4	384	0.0104	-23	c.120 others(42): Show c.1207-2710_1207-2688delTATATATATATATATATATATAT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
PNPT1_chr2_55629061_55698844	55657856	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00544.hp2 others(65): Show HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01255.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp2 HG02970.hp1 HG03017.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03927.hp2 HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp1 NA18973.hp2 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp2 NA18994.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp2 NA19056.hp1 NA19063.hp1 NA19065.hp1 NA19074.hp2 NA19078.hp1 NA19080.hp2 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0004 a0010c0007 a0001c0001 a0001c0004 a0010c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(5): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0031 a0001c0001t0033 a0001c0004t0004 a0010c0007t0003	a0001c0001t0002g0327 a0001c0001t0003g0007 a0001c0001t0003g0282 others(63): Show a0001c0001t0002g0327 a0001c0001t0003g0007 a0001c0001t0003g0282 a0001c0001t0003g0283 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0286 a0001c0001t0003g0288 a0001c0001t0003g0289 a0001c0001t0003g0291 a0001c0001t0003g0292 a0001c0001t0003g0293 a0001c0001t0003g0294 a0001c0001t0003g0296 a0001c0001t0003g0298 a0001c0001t0003g0299 a0001c0001t0003g0300 a0001c0001t0003g0302 a0001c0001t0003g0303 a0001c0001t0003g0305 a0001c0001t0003g0306 a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0318 a0001c0001t0003g0320 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0003g0324 a0001c0001t0003g0326 a0001c0001t0003g0328 a0001c0001t0003g0332 a0001c0001t0003g0333 a0001c0001t0003g0334 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0003g0338 a0001c0001t0003g0340 a0001c0001t0003g0341 a0001c0001t0003g0343 a0001c0001t0003g0345 a0001c0001t0003g0347 a0001c0001t0003g0350 a0001c0001t0003g0351 a0001c0001t0003g0352 a0001c0001t0003g0353 a0001c0001t0003g0355 a0001c0001t0003g0357 a0001c0001t0003g0359 a0001c0001t0003g0360 a0001c0001t0003g0361 a0001c0001t0009g0308 a0001c0001t0009g0329 a0001c0001t0009g0348 a0001c0001t0009g0354 a0001c0001t0017g0297 a0001c0001t0031g0365 a0001c0001t0033g0323 a0001c0004t0004g0011 a0001c0004t0004g0028 a0010c0007t0003g0339	68	86	0.7907	-23	c.128 others(42): Show c.1285-1508_1285-1486delTTTTTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	15/27			chr2	TogoVar
POLA1_chrX_24688918_25001986	24806053	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp2 HG00735.hp2 others(18): Show HG00140.hp1 HG00639.hp2 HG00735.hp2 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp2 HG02148.hp2 HG02280.hp2 HG02572.hp1 HG02976.hp1 HG03225.hp1 HG04228.hp1 NA18906.hp1 NA18943.hp1 NA18970.hp1 NA18989.hp1 NA19012.hp1 NA19067.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 others(18): Show a0001c0001t0001g0016 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0123 a0001c0001t0006g0056	21	25	0.8400	-23	c.296 others(42): Show c.2965-3811_2965-3789delTTTTTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLD3_chr11_74587582_74648076	74609356	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0078 a0001c0002t0004g0078	1	398	0.0025	-23	c.220 others(40): Show c.220-2141_220-2119delATATATATATATATATTTTTTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD4_chr11_67345772_67358546	67347628	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA20300.hp1 NA18952.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0006g0007 a0001c0001t0001g0001 a0001c0001t0006g0007	2	298	0.0067	-23	c.43 others(34): Show c.4344_*4366delATATATATATATATATATTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3143		chr11	TogoVar
POLD4_chr11_67345772_67358546	67347630	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	246	0.0041	-23	c.43 others(34): Show c.4342_*4364delATATATATATATATATATATTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3141		chr11	TogoVar
POLE4_chr2_74953643_74975128	74972535	ATCAGGGA others(16): Show ATCAGGGATATTGGTCTAAAATTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA19011.hp1 NA19012.hp1 NA18956.hp2 NA19011.hp1 NA19012.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	3	474	0.0063	-23	c.31 others(34): Show c.3114_*3136delTCAGGGATATTGGTCTAAAATTC	POLE4	ENSG00000115350.12	transcript	ENST00000483063.2	protein_coding		2408		chr2	TogoVar
POLI_chr18_54264517_54303234	54293438	AAACCTCT others(16): Show AAACCTCTTCCTGGAATAGTGGGT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA18906.hp1 HG03195.hp2 NA18906.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0019 a0001c0001 a0005c0019	a0001c0001t0033 a0005c0019t0029 a0001c0001t0033 a0005c0019t0029	a0001c0001t0033g0121 a0005c0019t0029g0122 a0001c0001t0033g0121 a0005c0019t0029g0122	2	336	0.0060	-23	c.140 others(40): Show c.1405-209_1405-187delACCTCTTCCTGGAATAGTGGGTA	POLI	ENSG00000101751.11	transcript	ENST00000579534.6	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
POLN_chr4_2066918_2247121	2159880	CATTCCAC others(16): Show CATTCCACCTTTGATGGATATGTG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02486.hp1 HG02630.hp1 others(4): Show HG01109.hp1 HG02486.hp1 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 others(4): Show a0001c0003t0002g0004 a0001c0003t0002g0005 a0001c0003t0002g0006 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010	7	192	0.0365	-23	c.155 others(40): Show c.1555-692_1555-670delCACATATCCATCAAAGGTGGAAT	POLN	ENSG00000130997.16	transcript	ENST00000511885.6	protein_coding	13/25			chr4	TogoVar
POLR2F_chr22_37948699_37974312	37951797	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp2 NA18985.hp1 others(2): Show NA18948.hp1 NA18948.hp2 NA18985.hp1 NA18998.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	5	91	0.0549	-23	c.-19 others(34): Show c.-1990_-1968delTTTTTTTTTTTTTTTTTTTTTTT	POLR2F	ENSG00000100142.16	transcript	ENST00000442738.7	protein_coding		1901		chr22	TogoVar
POLR2J_chr7_102468128_102483922	102474053	CAATCACC others(16): Show CAATCACCAACAAGGGACGTAGAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG06807.hp1 HG01975.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	2	408	0.0049	-23	c.318 others(38): Show c.318+285_318+307delTTCTACGTCCCTTGTTGGTGATT	POLR2J	ENSG00000005075.16	transcript	ENST00000292614.10	protein_coding	3/3			chr7	TogoVar
POLR3G_chr5_90469864_90519557	90493676	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp1 others(101): Show HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG00741.hp1 HG01106.hp1 HG01106.hp2 HG01175.hp1 HG01243.hp1 HG01358.hp1 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp1 HG03834.hp1 HG04204.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18978.hp1 NA18986.hp2 NA18994.hp2 NA18998.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp2 NA19054.hp2 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0033 a0001c0001t0037 a0002c0002t0006	a0001c0001t0001g0205 a0001c0001t0001g0256 a0001c0001t0001g0277 others(79): Show a0001c0001t0001g0205 a0001c0001t0001g0256 a0001c0001t0001g0277 a0001c0001t0003g0001 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0026 a0001c0001t0003g0029 a0001c0001t0003g0092 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0190 a0001c0001t0003g0243 a0001c0001t0004g0002 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0218 a0001c0001t0004g0298 a0001c0001t0004g0302 a0001c0001t0004g0304 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0308 a0001c0001t0004g0314 a0001c0001t0005g0162 a0001c0001t0006g0022 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0006g0232 a0001c0001t0006g0234 a0001c0001t0006g0237 a0001c0001t0006g0303 a0001c0001t0007g0103 a0001c0001t0007g0132 a0001c0001t0008g0166 a0001c0001t0008g0181 a0001c0001t0008g0192 a0001c0001t0008g0249 a0001c0001t0009g0013 a0001c0001t0009g0085 a0001c0001t0009g0089 a0001c0001t0009g0090 a0001c0001t0009g0091 a0001c0001t0009g0094 a0001c0001t0009g0095 a0001c0001t0009g0118 a0001c0001t0009g0219 a0001c0001t0010g0009 a0001c0001t0010g0021 a0001c0001t0010g0143 a0001c0001t0010g0225 a0001c0001t0010g0229 a0001c0001t0010g0241 a0001c0001t0010g0313 a0001c0001t0013g0042 a0001c0001t0013g0043 a0001c0001t0015g0164 a0001c0001t0016g0193 a0001c0001t0017g0183 a0001c0001t0017g0184 a0001c0001t0017g0185 a0001c0001t0022g0056 a0001c0001t0022g0296 a0001c0001t0024g0315 a0001c0001t0025g0101 a0001c0001t0026g0220 a0001c0001t0033g0001 a0001c0001t0037g0230 a0002c0002t0006g0239	104	119	0.8740	-23	c.248 others(40): Show c.248-1975_248-1953delTTTTTTTTTTTTTTTTTTTTTTT	POLR3G	ENSG00000113356.13	transcript	ENST00000651687.1	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
POLR3K_chr16_41407_58608	52446	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01517.hp1 HG02040.hp2 others(27): Show HG01192.hp1 HG01517.hp1 HG02040.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02559.hp1 HG02698.hp2 HG02717.hp1 HG03130.hp1 HG03195.hp1 HG03486.hp2 NA18906.hp2 NA18953.hp1 NA18965.hp1 NA18968.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18985.hp2 NA19006.hp1 NA19010.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0001 a0001c0001t0003 a0001c0001t0010	a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0052 others(7): Show a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0052 a0001c0001t0001g0140 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0003g0123 a0001c0001t0010g0114	30	53	0.5660	-23	c.112 others(38): Show c.112-824_112-802delTTTTTTTTTTTTTTTTTTTTTTT	POLR3K	ENSG00000161980.6	transcript	ENST00000293860.6	protein_coding	1/2			chr16	TogoVar
POP4_chr19_29601283_29622237	29601991	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG01516.hp2 HG01517.hp2 others(16): Show HG01081.hp2 HG01516.hp2 HG01517.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp2 HG02886.hp1 HG02897.hp2 HG02970.hp2 HG03017.hp1 HG03225.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 others(2): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0019 a0001c0001t0026 a0001c0001t0034	a0001c0001t0002g0020 a0001c0001t0002g0052 a0001c0001t0008g0013 others(8): Show a0001c0001t0002g0020 a0001c0001t0002g0052 a0001c0001t0008g0013 a0001c0001t0008g0029 a0001c0001t0008g0053 a0001c0001t0008g0054 a0001c0001t0008g0055 a0001c0001t0008g0056 a0001c0001t0019g0031 a0001c0001t0026g0057 a0001c0001t0034g0062	19	96	0.1979	-23	c.-43 others(34): Show c.-4327_-4305delAAAAAAAAAAAAAAAAAAAAAAA	POP4	ENSG00000105171.10	transcript	ENST00000585603.6	protein_coding		4291		chr19	TogoVar

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