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	132188998	G G	GGAGAGGA others(12): Show GGAGAGGAGAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0064 a0001c0003t0002g0064	1	61	0.0164	19	c.285 others(38): Show c.2857-1392_2857-1391insTTTCCTTTCCTCTCCTCTC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding	14/31			chr7	TogoVar
PLXNC1_chr12_94143577_94312675	94274155	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0030 a0002c0030	a0002c0030t0003 a0002c0030t0003	a0002c0030t0003g0061 a0002c0030t0003g0061	1	71	0.0141	19	c.359 others(38): Show c.3598-5303_3598-5285dupAAAAAAAAAAAAAAAAAAA	PLXNC1	ENSG00000136040.9	transcript	ENST00000258526.9	protein_coding	21/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
PMM1_chr22_41571900_41594840	41594335	G G	GGGTGGGG others(12): Show GGGTGGGGGGGTGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG03942.hp1 HG01168.hp2 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0091 a0001c0001t0001g0009 a0001c0001t0001g0091	2	201	0.0100	19	c.-45 others(30): Show c.-4531_-4530insGCCCCCCCACCCCCCCACC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4496		chr22	TogoVar
PMM1_chr22_41571900_41594840	41594359	G G	GGGGGGGT others(12): Show GGGGGGGTGGGGGAGGCGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	328	0.0030	19	c.-45 others(30): Show c.-4555_-4554insACCGCCTCCCCCACCCCCC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4520		chr22	TogoVar
PMM2_chr16_8792839_8854325	8832965	C C	CCCCGACC others(12): Show CCCCGACCACACCACAGGCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show HG00323.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19066.hp1 NA19080.hp1 NA19080.hp2 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0006 a0001c0001 a0001c0005 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0005t0001 a0005c0006t0018	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0317 a0001c0001t0001g0361 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0375 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0002g0149 a0001c0001t0002g0224 a0001c0001t0002g0279 a0001c0001t0002g0289 a0001c0001t0003g0146 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0005g0177 a0001c0001t0005g0179 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 a0001c0001t0006g0201 a0001c0001t0006g0202 a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0165 a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0015g0319 a0001c0001t0015g0320 a0001c0001t0017g0024 a0001c0001t0017g0025 a0001c0001t0019g0005 a0001c0001t0020g0218 a0001c0001t0020g0281 a0001c0001t0022g0322 a0001c0001t0029g0313 a0001c0001t0031g0047 a0001c0001t0032g0206 a0001c0001t0034g0040 a0001c0005t0001g0070 a0001c0005t0001g0071 a0005c0006t0018g0283 a0005c0006t0018g0284	155	406	0.3818	19	c.640 others(38): Show c.640-14756_640-14755insGACCACACCACAGGCTCCC	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CCTTTTTT others(12): Show CCTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0110 a0001c0001t0005g0173	2	64	0.0313	19	c.41 others(30): Show c.4152_*4153insCTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMM2_chr16_8792839_8854325	8851977	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02056.hp2 HG02129.hp2 others(1): Show HG01361.hp2 HG02056.hp2 HG02129.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0226 a0001c0001t0002g0252 a0001c0001t0002g0290 others(1): Show a0001c0001t0002g0226 a0001c0001t0002g0252 a0001c0001t0002g0290 a0002c0002t0002g0193	4	66	0.0606	19	c.41 others(30): Show c.4152_*4153insTTTTTTTTTTTTTTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding		2653		chr16	TogoVar
PMS1_chr2_189779450_189882629	189864657	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	186	0.0054	19	c.234 others(36): Show c.2342+442_2342+460dupAAAAAAAAAAAAAAAAAAA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PMS2_chr7_5965925_6014049	6009972	A A	ATATATAT others(12): Show ATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0006 a0005c0007t0006	a0005c0007t0006g0318 a0005c0007t0006g0318	1	326	0.0031	19	c.-95 others(28): Show c.-954_-953insATATATATATATATATATA	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		924		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG02040.hp1 HG02273.hp2 others(6): Show HG01358.hp1 HG02040.hp1 HG02273.hp2 NA18968.hp2 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA19062.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(1): Show a0001c0001 a0002c0002 a0002c0004 a0002c0012	a0001c0001t0001 a0002c0002t0002 a0002c0002t0028 others(4): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0028 a0002c0002t0030 a0002c0004t0001 a0002c0004t0008 a0002c0012t0002	a0001c0001t0001g0161 a0002c0002t0002g0212 a0002c0002t0002g0262 others(6): Show a0001c0001t0001g0161 a0002c0002t0002g0212 a0002c0002t0002g0262 a0002c0002t0002g0269 a0002c0002t0028g0224 a0002c0002t0030g0210 a0002c0004t0001g0208 a0002c0004t0008g0209 a0002c0012t0002g0178	9	53	0.1698	19	c.-95 others(28): Show c.-956_-955insATATATATATATATTTTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PMS2_chr7_5965925_6014049	6009974	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02738.hp1 HG04204.hp1 others(1): Show HG02027.hp1 HG02738.hp1 HG04204.hp1 NA19085.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0021 a0002c0002 a0013c0021	a0002c0002t0002 a0013c0021t0002 a0002c0002t0002 a0013c0021t0002	a0002c0002t0002g0206 a0002c0002t0002g0214 a0002c0002t0002g0317 others(1): Show a0002c0002t0002g0206 a0002c0002t0002g0214 a0002c0002t0002g0317 a0013c0021t0002g0259	4	48	0.0833	19	c.-95 others(28): Show c.-956_-955insATATATATATATATATTTT	PMS2	ENSG00000122512.17	transcript	ENST00000265849.12	protein_coding		926		chr7	TogoVar
PNISR_chr6_99393050_99430308	99419152	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA18950.hp2 HG03041.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0217 a0001c0001t0002g0144 a0001c0001t0002g0217	2	316	0.0063	19	c.-11 others(38): Show c.-111-2743_-111-2725dupTTTTTTTTTTTTTTTTTTT	PNISR	ENSG00000132424.17	transcript	ENST00000369239.10	protein_coding	1/11			chr6	TogoVar
PNKP_chr19_49856204_49872576	49861765	A A	ACGCTACC others(12): Show ACGCTACCTGGCGCGGCTCG	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02486.hp1 NA18906.hp2 HG02486.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0061 a0001c0001t0001g0062	2	428	0.0047	19	c.128 others(30): Show c.1286_1298+6dupCGAGCCGCGCCAGGTAGCG	PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding	14/16			chr19	TogoVar
PNLIP_chr10_116540931_116572855	116572332	G G	GTGGCTCA others(12): Show GTGGCTCACACCTGTAATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	273	0.0037	19	c.45 others(30): Show c.4534_*4535insTGGCTCACACCTGTAATCC	PNLIP	ENSG00000175535.6	transcript	ENST00000369221.2	protein_coding		4478		chr10	TogoVar
PNMA8A_chr19_46461503_46476563	46473260	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03471.hp1 HG01884.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0007 a0001c0008t0035 a0001c0002t0007 a0001c0008t0035	a0001c0002t0007g0038 a0001c0008t0035g0078 a0001c0002t0007g0038 a0001c0008t0035g0078	2	352	0.0057	19	c.-20 others(30): Show c.-2004_-2003insAAAAAAAAAAAAAAAAAAA	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		1698		chr19	TogoVar
PNMA8A_chr19_46461503_46476563	46475170	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01516.hp1 HG02922.hp2 others(4): Show HG00741.hp1 HG01516.hp1 HG02922.hp2 HG02965.hp1 HG03239.hp1 HG03471.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0002 a0001c0002t0007g0007 a0001c0002t0007g0038 a0001c0002t0003g0002 a0001c0002t0007g0007 a0001c0002t0007g0038	7	30	0.2333	19	c.-39 others(30): Show c.-3914_-3913insTTTTTTTTTTTTTTTTTTT	PNMA8A	ENSG00000182013.18	transcript	ENST00000313683.15	protein_coding		3608		chr19	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTATT others(12): Show ATTTTATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03710.hp1 NA18986.hp1 HG03710.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0080 a0001c0001t0001g0081	2	234	0.0085	19	c.126 others(36): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330396	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	233	0.0043	19	c.126 others(36): Show c.126+1129_126+1130insTTTTTTTTTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TATTTTTT others(12): Show TATTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp1 others(42): Show HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01175.hp2 HG01256.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01975.hp2 HG01978.hp2 HG02155.hp1 HG02738.hp1 HG03710.hp2 HG03834.hp1 HG03942.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18612.hp1 NA18943.hp2 NA18945.hp1 NA18950.hp2 NA18964.hp2 NA18967.hp1 NA18973.hp2 NA18980.hp1 NA18984.hp2 NA18987.hp1 NA18994.hp2 NA18995.hp1 NA19002.hp1 NA19006.hp1 NA19063.hp1 NA19068.hp1 NA19072.hp1 NA19089.hp1 NA19090.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(32): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0167 a0001c0001t0001g0260 a0001c0001t0001g0294 a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0004g0063 a0002c0002t0001g0079	45	390	0.1154	19	c.126 others(36): Show c.126+1117_126+1118insATTTTTTTTTTTTTTTTTA	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3			chr8	TogoVar
PNOC_chr8_28312268_28348351	28330400	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01261.hp2 others(1): Show HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0234 a0001c0001t0001g0022 a0001c0001t0001g0234	4	349	0.0115	19	c.126 others(36): Show c.126+1129_126+1130insTTTTTTATTTTTTTTTTTT	PNOC	ENSG00000168081.9	transcript	ENST00000301908.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PNPLA1_chr6_36265060_36318955	36273728	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG02735.hp1 HG03834.hp1	a0003 a0009 a0003 a0009	a0003c0007 a0009c0022 a0003c0007 a0009c0022	a0003c0007t0007 a0009c0022t0007 a0003c0007t0007 a0009c0022t0007	a0003c0007t0007g0067 a0009c0022t0007g0068 a0003c0007t0007g0067 a0009c0022t0007g0068	2	38	0.0526	19	c.205 others(36): Show c.205+3070_205+3088dupAAAAAAAAAAAAAAAAAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282044	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0011 a0003c0004t0001g0011	1	133	0.0075	19	c.206 others(36): Show c.206-9276_206-9275insAAAGAAAGAAAGAAAGAAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8			chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282082	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0252 a0002c0012t0001g0252	1	382	0.0026	19	c.206 others(36): Show c.206-9229_206-9228insAGAAAGAAAGAAGAAAGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282088	A A	AGAAAGAA others(12): Show AGAAAGAAAGAAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0095 a0002c0002t0001g0095	1	287	0.0035	19	c.206 others(36): Show c.206-9229_206-9228insAGAAAGAAAGAAGAAGGAA	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0252 a0002c0012t0001g0252	1	36	0.0278	19	c.206 others(36): Show c.206-9107_206-9106insAAGGAAGGAAGGAAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA1_chr6_36265060_36318955	36282212	G G	GGAAGGGA others(12): Show GGAAGGGAAGGAAGGAGGAA	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0008 a0006c0009t0008	a0006c0009t0008g0177 a0006c0009t0008g0177	1	36	0.0278	19	c.206 others(36): Show c.206-9107_206-9106insAAGGGAAGGAAGGAGGAAG	PNPLA1	ENSG00000180316.13	transcript	ENST00000636260.2	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNPLA4_chrX_7893247_7932413	7928005	C C	CTAAATAA others(12): Show CTAAATAAGATGCTAAATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0060 a0001c0001t0009g0060	1	336	0.0030	19	c.-73 others(28): Show c.-734_-733insCAATTTAGCATCTTATTTA	PNPLA4	ENSG00000006757.12	transcript	ENST00000381042.9	protein_coding		593		chrX	TogoVar
PNPLA7_chr9_137454952_137555402	137475010	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0021 a0021	a0021c0054 a0021c0054	a0021c0054t0001 a0021c0054t0001	a0021c0054t0001g0177 a0021c0054t0001g0177	1	71	0.0141	19	c.288 others(38): Show c.2882+3005_2882+3023dupTTTTTTTTTTTTTTTTTTT	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	25/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137502737	C C	CGGGGGGG others(12): Show CGGGGGGGGACCCGGGGGAT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0131 a0001c0002t0001g0131	1	133	0.0075	19	c.147 others(38): Show c.1474-1011_1474-1010insATCCCCCGGGTCCCCCCCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503434	T T	TGAGGAGG others(12): Show TGAGGAGGGGGAAGGAGAAG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02040.hp2 HG02071.hp2 others(18): Show HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02155.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp2 HG02735.hp2 HG02809.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03831.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18995.hp1 NA19064.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0022	a0001c0001 a0001c0045 a0002c0003 others(5): Show a0001c0001 a0001c0045 a0002c0003 a0002c0004 a0002c0026 a0002c0032 a0006c0018 a0022c0031	a0001c0001t0005 a0001c0045t0001 a0002c0003t0001 others(6): Show a0001c0001t0005 a0001c0045t0001 a0002c0003t0001 a0002c0003t0004 a0002c0004t0001 a0002c0026t0001 a0002c0032t0001 a0006c0018t0001 a0022c0031t0001	a0001c0001t0005g0001 a0001c0045t0001g0175 a0002c0003t0001g0004 others(18): Show a0001c0001t0005g0001 a0001c0045t0001g0175 a0002c0003t0001g0004 a0002c0003t0001g0017 a0002c0003t0001g0030 a0002c0003t0001g0048 a0002c0003t0001g0054 a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0003t0001g0078 a0002c0003t0001g0134 a0002c0003t0004g0186 a0002c0004t0001g0032 a0002c0004t0001g0155 a0002c0004t0001g0171 a0002c0004t0001g0180 a0002c0026t0001g0160 a0002c0032t0001g0103 a0006c0018t0001g0127 a0006c0018t0001g0128 a0022c0031t0001g0097	21	184	0.1141	19	c.147 others(38): Show c.1474-1726_1474-1708dupCTTCTCCTTCCCCCTCCTC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA7_chr9_137454952_137555402	137503519	G G	GGGAAGGA others(12): Show GGGAAGGAGAAGGAGGAGGA	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0033 a0002c0003t0001g0033	1	186	0.0054	19	c.147 others(38): Show c.1474-1793_1474-1792insTCCTCCTCCTTCTCCTTCC	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PNPLA8_chr7_108465417_108531135	108467746	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG02109.hp1 HG01496.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0131 a0001c0001t0005g0132	2	383	0.0052	19	c.46 others(30): Show c.4654_*4655insCTTTTTTTTTTTTTTTTTT	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding		2670		chr7	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	183	0.0055	19	c.161 others(36): Show c.161+1784_161+1785insAAATATATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	183	0.0055	19	c.161 others(36): Show c.161+1784_161+1785insAAAAAAATATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02486.hp2 HG01496.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0202 a0001c0001t0006g0205 a0001c0001t0006g0202 a0001c0001t0006g0205	2	184	0.0109	19	c.161 others(36): Show c.161+1784_161+1785insAAAAAAAAATATATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55691878	A A	ATATATAT others(12): Show ATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0207 a0001c0001t0006g0207	1	183	0.0055	19	c.161 others(36): Show c.161+1784_161+1785insAAAAAAAAAAAAATATATA	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding	1/27			chr2	TogoVar
PNPT1_chr2_55629061_55698844	55695278	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0004 a0001c0001t0001 a0003c0003t0004	a0001c0001t0001g0157 a0003c0003t0004g0071 a0003c0003t0004g0075 a0001c0001t0001g0157 a0003c0003t0004g0071 a0003c0003t0004g0075	3	151	0.0199	19	c.-14 others(30): Show c.-1456_-1455insTTTTTTTTTTTTTTTTTTT	PNPT1	ENSG00000138035.15	transcript	ENST00000447944.7	protein_coding		1435		chr2	TogoVar
POC5_chr5_75669124_75722437	75684363	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 HG02895.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0074 a0001c0004t0001g0077 a0001c0004t0001g0074 a0001c0004t0001g0077	2	276	0.0072	19	c.140 others(36): Show c.1407+825_1407+843dupAAAAAAAAAAAAAAAAAAA	POC5	ENSG00000152359.15	transcript	ENST00000428202.7	protein_coding	10/11			chr5	TogoVar
PODXL_chr7_131495271_131561628	131524408	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0004 a0004	a0004c0002 a0004c0002	a0004c0002t0001 a0004c0002t0001	a0004c0002t0001g0230 a0004c0002t0001g0230	1	421	0.0024	19	c.101 others(38): Show c.101-12976_101-12975insCTCTCTCTCTCTCTCTCTC	PODXL	ENSG00000128567.17	transcript	ENST00000378555.8	protein_coding	1/8			chr7	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(12): Show ATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp2 HG02886.hp1 others(3): Show HG02615.hp1 HG02622.hp2 HG02886.hp1 HG03453.hp1 HG03516.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0006 a0001c0001 a0001c0002 a0005c0006	a0001c0001t0001 a0001c0002t0004 a0001c0002t0007 others(1): Show a0001c0001t0001 a0001c0002t0004 a0001c0002t0007 a0005c0006t0004	a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0002t0004g0019 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0033 a0001c0002t0004g0019 a0001c0002t0007g0175 a0005c0006t0004g0030 a0005c0006t0004g0031	6	193	0.0311	19	c.358 others(34): Show c.358-938_358-937insGTGTGTATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POF1B_chrX_85272396_85384665	85360567	A A	ATATATAT others(12): Show ATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	188	0.0053	19	c.358 others(34): Show c.358-938_358-937insGTGTATATATATATATATA	POF1B	ENSG00000124429.18	transcript	ENST00000262753.9	protein_coding	3/16			chrX	TogoVar
POLA1_chrX_24688918_25001986	24757436	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG03130.hp1 HG02559.hp1 HG02965.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0042 a0001c0001t0001g0057 a0001c0001t0001g0086	3	21	0.1429	19	c.296 others(38): Show c.2964+8447_2964+8465dupTTTTTTTTTTTTTTTTTTT	POLA1	ENSG00000101868.13	transcript	ENST00000379068.8	protein_coding	26/36		INFO_REALIGN_3_PRIME	chrX	TogoVar
POLB_chr8_42333494_42376808	42343345	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	152	0.0066	19	c.120 others(36): Show c.120-1608_120-1607insTATATATATATATATATAT	POLB	ENSG00000070501.12	transcript	ENST00000265421.9	protein_coding	2/13			chr8	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0054 a0001c0002t0002g0054	1	316	0.0032	19	c.220 others(36): Show c.220-2126_220-2125insATATATATATATATATATT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609372	A A	ATATATAT others(12): Show ATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0217 a0001c0001t0006g0217	1	316	0.0032	19	c.220 others(36): Show c.220-2126_220-2125insATATATATATATATATTTT	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLD3_chr11_74587582_74648076	74609373	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0073 a0001c0002t0004g0073	1	351	0.0028	19	c.220 others(36): Show c.220-2126_220-2125insATATATATATATATATATA	POLD3	ENSG00000077514.9	transcript	ENST00000263681.7	protein_coding	3/11			chr11	TogoVar
POLD4_chr11_67345772_67358546	67347633	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	235	0.0043	19	c.43 others(30): Show c.4361_*4362insATATATATATATATTTTTT	POLD4	ENSG00000175482.9	transcript	ENST00000312419.8	protein_coding		3138		chr11	TogoVar
POLDIP2_chr17_28341633_28362527	28353520	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG01257.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0147 a0001c0001t0012g0148 a0001c0001t0012g0147 a0001c0001t0012g0148	2	73	0.0274	19	c.438 others(34): Show c.438+174_438+175insTTTTTTTTTTTTTTTTTTT	POLDIP2	ENSG00000004142.12	transcript	ENST00000540200.6	protein_coding	4/10			chr17	TogoVar
POLE2_chr14_49638555_49693214	49682640	G G	GAAAAAAA others(12): Show GAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0206 a0001c0002t0002g0206	1	132	0.0076	19	c.169 others(34): Show c.169+934_169+952dupTTTTTTTTTTTTTTTTTTT	POLE2	ENSG00000100479.14	transcript	ENST00000216367.10	protein_coding	2/18			chr14	TogoVar
POLE_chr12_132618762_132692342	132658881	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0056 a0002c0006t0001g0056	1	61	0.0164	19	c.327 others(36): Show c.3275+395_3275+413dupTTTTTTTTTTTTTTTTTTT	POLE	ENSG00000177084.19	transcript	ENST00000320574.10	protein_coding	26/48			chr12	TogoVar

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