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
PARVG_chr22_44175925_44213469	44198944	A A	ATCCATCC others(97): Show ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCATCCAC CCACCCACCCATCCATCCATCCATCCACCCACCCACCCACCCGTCCGTCC GTCCG	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	403	0.0025	104	c.813 others(119): Show c.813+222_813+223insTCCATCCATCCATCCATCCATCCATCCATC CACCCACCCACCCATCCACCCACCCACCCATCCATCCATCCATCCACCCA CCCACCCACCCGTCCGTCCGTCCG	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	12/13			chr22	TogoVar
PASK_chr2_241101099_241154472	241115957	C C	CAGGGCCA others(97): Show CAGGGCCACCCGGTCCCCAAGCATCCCGTTACACCAGGGGCCACCCAGTC CTCAAGCATCCCATTACGCCGGGGCCACCCGGTCCCCAAGCATCCCGTTA CGCCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01081.hp1 others(37): Show HG00558.hp2 HG00673.hp2 HG01081.hp1 HG01123.hp2 HG01255.hp2 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG02015.hp2 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp1 HG02738.hp1 HG04204.hp2 NA18944.hp1 NA18951.hp1 NA18960.hp1 NA18964.hp2 NA18970.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp2 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp1 NA19056.hp2 NA19064.hp2 NA19068.hp2 NA19077.hp2 NA19087.hp2 NA19089.hp1	a0004 a0005 a0004 a0005	a0004c0004 a0004c0018 a0004c0058 others(2): Show a0004c0004 a0004c0018 a0004c0058 a0005c0013 a0005c0021	a0004c0004t0001 a0004c0018t0002 a0004c0058t0002 others(3): Show a0004c0004t0001 a0004c0018t0002 a0004c0058t0002 a0005c0013t0001 a0005c0013t0002 a0005c0021t0002	a0004c0004t0001g0008 a0004c0004t0001g0025 a0004c0004t0001g0089 others(34): Show a0004c0004t0001g0008 a0004c0004t0001g0025 a0004c0004t0001g0089 a0004c0004t0001g0179 a0004c0004t0001g0187 a0004c0004t0001g0200 a0004c0004t0001g0202 a0004c0004t0001g0204 a0004c0004t0001g0205 a0004c0004t0001g0206 a0004c0004t0001g0207 a0004c0004t0001g0208 a0004c0004t0001g0209 a0004c0004t0001g0211 a0004c0004t0001g0212 a0004c0004t0001g0214 a0004c0004t0001g0215 a0004c0004t0001g0216 a0004c0004t0001g0218 a0004c0018t0002g0054 a0004c0018t0002g0057 a0004c0018t0002g0063 a0004c0018t0002g0074 a0004c0018t0002g0076 a0004c0058t0002g0308 a0005c0013t0001g0132 a0005c0013t0001g0227 a0005c0013t0002g0090 a0005c0013t0002g0255 a0005c0013t0002g0256 a0005c0013t0002g0280 a0005c0013t0002g0286 a0005c0013t0002g0291 a0005c0013t0002g0320 a0005c0021t0002g0257 a0005c0021t0002g0283 a0005c0021t0002g0285	40	369	0.1084	104	c.307 others(121): Show c.3073-545_3073-544insTGGCGTAACGGGATGCTTGGGGACCGGG TGGCCCCGGCGTAATGGGATGCTTGAGGACTGGGTGGCCCCTGGTGTAAC GGGATGCTTGGGGACCGGGTGGCCCT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61871412	T T	TACATATA others(97): Show TACATATATATGTACATATATATGTGTATATATATATACATATATATGTA CATATATATGTGTATATATATATACATATATATGTACATATATATGTGTA TATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0151 a0001c0001t0003g0151	1	155	0.0065	104	c.283 others(123): Show c.2836-3800_2836-3799insTATATACATATATATGTACATATATA TGTGTATATATATATACATATATATGTACATATATATGTGTATATACACA TATATATGTACATATATATGTGTATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(97): Show TATTCCTATTCCTATTCCTATTCCTATTCCTATTCCTATTCCTATTCCTA TTCCTATTCCTATTCCTATTCCTATTCCTATTCCTATTCCATTCCATTCC ATTCC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0169 a0002c0002t0001g0169	1	153	0.0065	104	c.517 others(123): Show c.517-18675_517-18674insGGAATGGAATGGAATGGAATAGGAAT AGGAATAGGAATAGGAATAGGAATAGGAATAGGAATAGGAATAGGAATAG GAATAGGAATAGGAATAGGAATAGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX1_chr20_21700664_21723481	21721514	T T	TATAGTGT others(97): Show TATAGTGTTACATATGTAACACATATATGTAATACATATATGTTATATAT GTAATACATATATGTAATACATATATGTTATATATGTAATACATATATGT AATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	396	0.0025	104	c.69 others(115): Show c.6952_*6953insATAGTGTTACATATGTAACACATATATGTAATAC ATATATGTTATATATGTAATACATATATGTAATACATATATGTTATATAT GTAATACATATATGTAATAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3034		chr20	TogoVar
PAX8_chr2_113210997_113283921	113255305	G G	GGAGGGAG others(97): Show GGAGGGAGGGGAGGAGGGAGGGAGGAGGGAGGGGAGGAGGGAGGGGAGGA GGGAGGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGGGACGAGGGAG GGGAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0081 a0001c0001t0006g0081	1	286	0.0035	104	c.26- others(119): Show c.26-8387_26-8386insGTCCCCTCCCTCGTCCCCTCCCTCCTCCCT CCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCT CCTCCCTCCCTCCTCCCCTCCCTC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	2/11			chr2	TogoVar
PCBP3_chr21_45638725_45947450	45898286	C C	CCCCTCTG others(97): Show CCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCACGG CCTCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCAC AGCCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0262 a0001c0001t0004g0017 a0001c0001t0003g0262 a0001c0001t0004g0017	2	157	0.0127	104	c.166 others(121): Show c.166-1290_166-1289insCCTCCCTCTGCACACCGTCCTCACGGCC TCCCTCTGCACACCGTCCTCACAGCCTCCCTCTGCACACCGTCCTCACAG CCTCCCTCTGCACACCGTCCTCACAG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(97): Show TATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATC GATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01261.hp2 HG01496.hp2 others(3): Show HG00099.hp2 HG01261.hp2 HG01496.hp2 HG01517.hp2 HG01981.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012	6	364	0.0165	104	c.-26 others(115): Show c.-2641_-2640insCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTAT CTATCGATAGATACATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCLO_chr7_82749012_83167884	82806880	T T	TGGGCTTT others(97): Show TGGGCTTTACTGTCAACAGCTGTTTCTTACTGTCTTTGAGCTTAAATAGT CTTTGACAATGAATTTAACTCTATTCTCTTCTCAAGGTATCCCCACTCTT CTCAA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	186	0.0054	104	c.147 others(125): Show c.14792-1155_14792-1052dupTTGAGAAGAGTGGGGATACCTTGA GAAGAGAATAGAGTTAAATTCATTGTCAAAGACTATTTAAGCTCAAAGAC AGTAAGAAACAGCTGTTGACAGTAAAGCCC	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82806959	T T	TCTCAAGG others(97): Show TCTCAAGGTATCCCCACTCTTCTCAAGGGCTTTACTGTCAACAGCTGTTT CTTACTGTCTTTGAGCTTAAATAGTCTTTGACAATGAATTTAACTCTATT CTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00544.hp2 HG00597.hp2 others(82): Show HG00099.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01361.hp2 HG01496.hp1 HG01891.hp1 HG01934.hp1 HG01952.hp1 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18963.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp2 NA18993.hp1 NA18993.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19057.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(22): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0011 a0012 a0015 a0016 a0017 a0019 a0025 a0026 a0027 a0031 a0033 a0037 a0040 a0044 a0045 a0047 a0052	a0001c0003 a0001c0004 a0001c0007 others(49): Show a0001c0003 a0001c0004 a0001c0007 a0001c0010 a0001c0016 a0001c0018 a0001c0019 a0001c0053 a0001c0060 a0001c0062 a0001c0063 a0001c0064 a0002c0005 a0002c0011 a0002c0022 a0002c0088 a0002c0089 a0002c0090 a0002c0091 a0002c0093 a0003c0002 a0003c0054 a0003c0056 a0003c0057 a0003c0058 a0004c0024 a0004c0025 a0004c0103 a0005c0043 a0006c0027 a0006c0040 a0006c0041 a0007c0006 a0009c0082 a0011c0094 a0011c0095 a0012c0012 a0015c0108 a0016c0106 a0017c0046 a0019c0069 a0025c0055 a0026c0104 a0027c0086 a0031c0051 a0033c0101 a0037c0100 a0040c0048 a0044c0074 a0045c0077 a0047c0080 a0052c0036	a0001c0003t0019 a0001c0004t0004 a0001c0004t0007 others(57): Show a0001c0003t0019 a0001c0004t0004 a0001c0004t0007 a0001c0007t0001 a0001c0010t0003 a0001c0010t0004 a0001c0010t0007 a0001c0016t0010 a0001c0018t0003 a0001c0019t0003 a0001c0019t0034 a0001c0053t0003 a0001c0060t0033 a0001c0062t0001 a0001c0063t0001 a0001c0064t0009 a0002c0005t0001 a0002c0005t0028 a0002c0011t0001 a0002c0022t0003 a0002c0088t0001 a0002c0089t0001 a0002c0090t0036 a0002c0091t0001 a0002c0093t0007 a0003c0002t0001 a0003c0002t0027 a0003c0002t0031 a0003c0054t0001 a0003c0056t0003 a0003c0057t0001 a0003c0058t0001 a0004c0024t0003 a0004c0025t0009 a0004c0103t0009 a0005c0043t0004 a0006c0027t0001 a0006c0040t0001 a0006c0041t0024 a0007c0006t0010 a0007c0006t0023 a0009c0082t0022 a0011c0094t0009 a0011c0095t0001 a0012c0012t0001 a0015c0108t0001 a0016c0106t0001 a0017c0046t0010 a0019c0069t0005 a0025c0055t0001 a0026c0104t0009 a0027c0086t0001 a0031c0051t0003 a0033c0101t0001 a0037c0100t0001 a0040c0048t0005 a0044c0074t0003 a0045c0077t0003 a0047c0080t0001 a0052c0036t0001	a0001c0003t0019g0021 a0001c0004t0004g0145 a0001c0004t0007g0085 others(82): Show a0001c0003t0019g0021 a0001c0004t0004g0145 a0001c0004t0007g0085 a0001c0004t0007g0097 a0001c0004t0007g0099 a0001c0004t0007g0108 a0001c0004t0007g0141 a0001c0007t0001g0020 a0001c0007t0001g0100 a0001c0007t0001g0135 a0001c0007t0001g0142 a0001c0010t0003g0139 a0001c0010t0004g0017 a0001c0010t0007g0088 a0001c0016t0010g0143 a0001c0018t0003g0018 a0001c0019t0003g0132 a0001c0019t0034g0027 a0001c0053t0003g0131 a0001c0060t0033g0025 a0001c0062t0001g0089 a0001c0063t0001g0128 a0001c0064t0009g0031 a0002c0005t0001g0159 a0002c0005t0001g0168 a0002c0005t0001g0170 a0002c0005t0001g0172 a0002c0005t0001g0174 a0002c0005t0028g0153 a0002c0011t0001g0160 a0002c0011t0001g0163 a0002c0011t0001g0164 a0002c0022t0003g0166 a0002c0088t0001g0156 a0002c0089t0001g0169 a0002c0090t0036g0173 a0002c0091t0001g0162 a0002c0093t0007g0171 a0003c0002t0001g0016 a0003c0002t0001g0019 a0003c0002t0001g0083 a0003c0002t0001g0095 a0003c0002t0001g0096 a0003c0002t0001g0105 a0003c0002t0001g0106 a0003c0002t0027g0149 a0003c0002t0031g0014 a0003c0054t0001g0129 a0003c0056t0003g0101 a0003c0057t0001g0103 a0003c0058t0001g0086 a0004c0024t0003g0052 a0004c0024t0003g0053 a0004c0025t0009g0063 a0004c0025t0009g0064 a0004c0103t0009g0065 a0005c0043t0004g0044 a0006c0027t0001g0046 a0006c0027t0001g0048 a0006c0040t0001g0043 a0006c0041t0024g0076 a0007c0006t0010g0006 a0007c0006t0010g0007 a0007c0006t0010g0008 a0007c0006t0023g0005 a0009c0082t0022g0002 a0011c0094t0009g0188 a0011c0095t0001g0187 a0012c0012t0001g0154 a0012c0012t0001g0155 a0015c0108t0001g0070 a0016c0106t0001g0069 a0017c0046t0010g0039 a0019c0069t0005g0022 a0025c0055t0001g0151 a0026c0104t0009g0071 a0027c0086t0001g0157 a0031c0051t0003g0123 a0033c0101t0001g0054 a0037c0100t0001g0062 a0040c0048t0005g0074 a0044c0074t0003g0121 a0045c0077t0003g0012 a0047c0080t0001g0084 a0052c0036t0001g0041	85	186	0.4570	104	c.147 others(125): Show c.14792-1131_14792-1130insGAGAGAATAGAGTTAAATTCATTG TCAAAGACTATTTAAGCTCAAAGACAGTAAGAAACAGCTGTTGACAGTAA AGCCCTTGAGAAGAGTGGGGATACCTTGAG	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82806970	C C	CCCCACTC others(97): Show CCCCACTCTTCTCAAGGGCTTTACTGTCAACAGCTGTTTCTTACTGTCTT TGAGCTTAAATAGTCTTTGACAATGAATTTAACTCTATTCTCTCCTCAAG GTATT	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0002 a0002	a0002c0022 a0002c0022	a0002c0022t0003 a0002c0022t0003	a0002c0022t0003g0167 a0002c0022t0003g0167	1	186	0.0054	104	c.147 others(125): Show c.14792-1142_14792-1141insAATACCTTGAGGAGAGAATAGAGT TAAATTCATTGTCAAAGACTATTTAAGCTCAAAGACAGTAAGAAACAGCT GTTGACAGTAAAGCCCTTGAGAAGAGTGGG	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82807203	G G	GTCAACAG others(97): Show GTCAACAGCTGTTTCTTACTGTCTTTGAGCTTAAATAGTCTTTGACAATG AATTTAACTCTATTCTCTTCTCAAGGTATCCCCACTCTTCTCAAGGGCTT TACTC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02257.hp2 others(5): Show HG01884.hp2 HG02055.hp1 HG02257.hp2 HG02258.hp1 HG02809.hp2 HG03225.hp2 HG03453.hp2 HG03540.hp1	a0001 a0005 a0017 others(4): Show a0001 a0005 a0017 a0020 a0030 a0034 a0042	a0001c0016 a0001c0018 a0005c0044 others(5): Show a0001c0016 a0001c0018 a0005c0044 a0017c0047 a0020c0111 a0030c0039 a0034c0030 a0042c0038	a0001c0016t0011 a0001c0018t0011 a0005c0044t0016 others(5): Show a0001c0016t0011 a0001c0018t0011 a0005c0044t0016 a0017c0047t0011 a0020c0111t0030 a0030c0039t0008 a0034c0030t0011 a0042c0038t0016	a0001c0016t0011g0057 a0001c0018t0011g0183 a0005c0044t0016g0038 others(5): Show a0001c0016t0011g0057 a0001c0018t0011g0183 a0005c0044t0016g0038 a0017c0047t0011g0036 a0020c0111t0030g0152 a0030c0039t0008g0079 a0034c0030t0011g0010 a0042c0038t0016g0051	8	186	0.0430	104	c.147 others(125): Show c.14792-1375_14792-1374insGAGTAAAGCCCTTGAGAAGAGTGG GGATACCTTGAGAAGAGAATAGAGTTAAATTCATTGTCAAAGACTATTTA AGCTCAAAGACAGTAAGAAACAGCTGTTGA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	20/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149786272	C C	CCCCCCCA others(97): Show CCCCCCCACCTCCCTCCCGGACGGGACGGGGCGGCTGGCCGGGCGGGGGT GCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA21309.hp1 HG01109.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0154 a0001c0001t0001g0155	2	331	0.0060	104	c.193 others(121): Show c.193-3676_193-3675insACCTCCCTCCCGGACGGGACGGGGCGGC TGGCCGGGCGGGGGTGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCC	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE7B_chr6_135846701_136200574	135928489	A A	ATATATAT others(97): Show ATATATATTTATATATATATATTTATATATATATATTTATATATATATAT TTATATATATATATTTATATATATATATTTATATATATATTTATATATAT ATATT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	110	0.0091	104	c.22- others(121): Show c.22-18968_22-18967insTTATATATATATATTTATATATATATAT TTATATATATATATTTATATATATATATTTATATATATATATTTATATAT ATATTTATATATATATATTTATATAT	PDE7B	ENSG00000171408.14	transcript	ENST00000308191.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDE9A_chr21_42648621_42780509	42769691	C C	CACATGCA others(97): Show CACATGCACACCGGTACACACAGGCACACGTGCACACGTACACAGGCATA CAAATGCACACGCAGGCACACACAGGTACGTAGGCACACACAAGCACATA CACAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02735.hp1 HG01516.hp2 HG02735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0318 a0001c0002t0001g0036 a0001c0002t0001g0318	2	166	0.0120	104	c.159 others(121): Show c.1590+537_1590+538insCATGCACACCGGTACACACAGGCACACG TGCACACGTACACAGGCATACAAATGCACACGCAGGCACACACAGGTACG TAGGCACACACAAGCACATACACATA	PDE9A	ENSG00000160191.18	transcript	ENST00000291539.11	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDIA5_chr3_123062025_123167104	123152003	T T	TCCTGCCT others(97): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCT GCCTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	306	0.0033	104	c.127 others(123): Show c.1273+1642_1273+1643insGCCTGCCTTCCTTCCTGCCTGCCTTC CTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCT TCCTGCCTGCCTTTCTTCCTGCCTGCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA5_chr3_123062025_123167104	123152080	C C	CCTGCCTT others(97): Show CCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCC TGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTG CCTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0046 a0002c0008t0001g0046	1	313	0.0032	104	c.127 others(123): Show c.1273+1718_1273+1719insGCCTTCCTTCCTGCCTGCCTTTCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTTCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDXK_chr21_43714129_43767299	43741314	C C	CGGGGGGC others(97): Show CGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGC TCGCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0252 a0001c0001t0009g0252	1	294	0.0034	104	c.143 others(119): Show c.143-347_143-346insCTCGCAGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGG CTCGCGGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCCCTCCCTCTCTCCCTCTCTCTCTCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02165.hp2 NA18943.hp1 others(3): Show HG02015.hp2 HG02165.hp2 NA18943.hp1 NA18945.hp2 NA18964.hp2 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0066 a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0066	6	19	0.3158	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGAGAGAGAGAGGGAGAGAGGGA GGGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	14	0.0714	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGG GGAGGGGGAGGGGGAGGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCC CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	14	0.0714	104	c.48 others(115): Show c.4863_*4864insGAGAGGGAGAGGGAGAGGGAGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG03942.hp2 HG02293.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0008 a0001c0001t0001g0001 a0001c0002t0001g0008	2	15	0.1333	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGG GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCCTCTCTCCCTCTCTCTCTCTCTC CCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	14	0.0714	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGACAGAGAGGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGGA GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 NA21309.hp2 HG01168.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0001 a0001c0002t0001g0044 a0001c0001t0001g0001 a0001c0002t0001g0044	2	15	0.1333	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGAGACAGAGAGGGGGA GGGGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGA GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(97): Show TTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCT CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCT CTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	104	c.48 others(115): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGGA GAGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PEBP1_chr12_118131124_118150584	118133224	T T	TTCATTTC others(97): Show TTCATTTCATTTCATTTCATTTCATTTCATTTCATTATTTCATTTCATTT CATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT ATTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	392	0.0026	104	c.-29 others(115): Show c.-2986_-2985insTCATTTCATTTCATTTCATTTCATTTCATTTCAT TATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATTTATTTC	PEBP1	ENSG00000089220.5	transcript	ENST00000261313.3	protein_coding		2899		chr12	TogoVar
PEBP4_chr8_22708251_22932914	22728555	T T	TCTTCCTT others(97): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0147 a0003c0004t0003g0147	1	258	0.0039	104	c.358 others(121): Show c.358-1336_358-1335insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAG	PEBP4	ENSG00000134020.8	transcript	ENST00000256404.8	protein_coding	4/6			chr8	TogoVar
PEX5_chr12_7184686_7216459	7197440	T T	TAATTATA others(97): Show TAATTATATATATGTCATATACAATGTAATTATATATGTCATATACAATG TAATTATGTTATATATAATGTAATAATTATATATGTTATATATAATGTAA TTATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02735.hp1 NA20752.hp2 HG00735.hp2 HG02735.hp1 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0022 a0002c0002t0005g0022	3	389	0.0077	104	c.449 others(121): Show c.449-1571_449-1570insAATTATATATATGTCATATACAATGTAA TTATATATGTCATATACAATGTAATTATGTTATATATAATGTAATAATTA TATATGTTATATATAATGTAATTATA	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15			chr12	TogoVar
PFKP_chr10_3062548_3141802	3106698	C C	CTCACCCC others(97): Show CTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTG CCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTG CCGCT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0002 a0001c0012t0002	a0001c0012t0002g0042 a0001c0012t0002g0042	1	152	0.0066	104	c.775 others(119): Show c.775-502_775-501insGCCCCTTCACCCCTGCCCCTGCCCCTTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGC CCCTGCCGCTTCACCCCTGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106734	C C	CCTTCACC others(97): Show CCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCC TGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCC TGCCG	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0302 a0001c0029t0001g0302	1	394	0.0025	104	c.775 others(119): Show c.775-464_775-463insGCCCCTTCACCCCTGCCCCTGCCCCTTCAC CCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGC CCCTGCCGCTTCACCCCTGCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PGS1_chr17_78373649_78429659	78397289	A A	ACAGACGG others(97): Show ACAGACGGGCCCATTGCCCAGAGTTAGTGCCGTTTCTTGGTCTGTCCTTG TTCAGAGTTACTGGTGGGAGCTATAGGGATTGGAGTGTGGAGAGGGAGGT GCAGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(77): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG02027.hp2 HG02040.hp2 HG02132.hp1 HG02258.hp1 HG02280.hp2 HG02523.hp1 HG02615.hp2 HG02647.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03490.hp1 HG03579.hp1 HG03669.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18964.hp1 NA18967.hp1 NA18971.hp2 NA18980.hp1 NA18983.hp1 NA18987.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20905.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0007 others(4): Show a0001c0001 a0001c0002 a0001c0007 a0001c0008 a0001c0012 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(8): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0013 a0001c0007t0006 a0001c0008t0001 a0001c0012t0008 a0003c0005t0001 a0004c0009t0014	a0001c0001t0001g0152 a0001c0002t0001g0001 a0001c0002t0001g0007 others(72): Show a0001c0001t0001g0152 a0001c0002t0001g0001 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0113 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0232 a0001c0002t0001g0291 a0001c0002t0002g0075 a0001c0002t0002g0114 a0001c0002t0004g0124 a0001c0002t0004g0138 a0001c0002t0005g0077 a0001c0002t0005g0084 a0001c0002t0013g0001 a0001c0007t0006g0170 a0001c0008t0001g0009 a0001c0012t0008g0188 a0003c0005t0001g0130 a0003c0005t0001g0135 a0003c0005t0001g0137 a0004c0009t0014g0145	80	396	0.2020	104	c.411 others(119): Show c.411+905_412-859dupCAGACGGGCCCATTGCCCAGAGTTAGTGCC GTTTCTTGGTCTGTCCTTGTTCAGAGTTACTGGTGGGAGCTATAGGGATT GGAGTGTGGAGAGGGAGGTGCAGT	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
PGS1_chr17_78373649_78429659	78397291	A A	GGACGGGC others(97): Show GGACGGGCCCATTGCCCAGAGTTAGTGCCGTTTCTTGGTCTGTCCTTGTT CAGAGTTACTGGTGGGAGCTATAGGGATTGGAGTGTGGAGAGGGAGGTGC AGTCA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0173 a0001c0002t0004g0173	1	225	0.0044	104	c.411 others(119): Show c.411+905_411+906insGGACGGGCCCATTGCCCAGAGTTAGTGCCG TTTCTTGGTCTGTCCTTGTTCAGAGTTACTGGTGGGAGCTATAGGGATTG GAGTGTGGAGAGGGAGGTGCAGTC	PGS1	ENSG00000087157.19	transcript	ENST00000262764.11	protein_coding	3/9			chr17	TogoVar
PIBF1_chr13_72777133_73021461	72927996	C C	CATATATA others(97): Show CATATATATATACATATATATACATATATATACATATATATATATATATA TACATATATATATACATATATATACATATATATACATATATATATATATA TACAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01256.hp2 HG01981.hp2 HG01099.hp2 HG01256.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019	3	295	0.0102	104	c.173 others(123): Show c.1731-3160_1731-3159insTACATATATATACATATATATACATA TATATATATATATATACATATATATATACATATATATACATATATATACA TATATATATATATATACATATATATATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10716651	C C	CCGCCCCT others(97): Show CCGCCCCTCCTCACATCCTTTATAAAATCTCAAGCAAGGTATGTATTTCT CACAATCATTCAGATAGAGCCTCTAGCTGCTCTGTGTAGACATAAAGGGG AAGCT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0003 a0007c0004t0003	a0007c0004t0003g0149 a0007c0004t0003g0149	1	158	0.0063	104	c.509 others(121): Show c.5090-939_5090-836dupAGCTTCCCCTTTATGTCTACACAGAGCA GCTAGAGGCTCTATCTGAATGATTGTGAGAAATACATACCTTGCTTGAGA TTTTATAAAGGATGTGAGGAGGGGCG	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	37/55			chr18	TogoVar
PIGQ_chr16_564968_589109	565736	A A	AGGAGAGC others(97): Show AGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCGGG GGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTGTGTCTTGGTGTGTCG GGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0310 a0001c0002t0006g0310	1	342	0.0029	104	c.-43 others(115): Show c.-4370_-4369insGGAGAGCCGTGTGGACTGGGCTGCTCGGCCTGTG TCTTGGTGTGTCGGGGGTGGAGAGGCGTGTGGACTGGGCTGCTCGGCCTG TGTCTTGGTGTGTCGGGGGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		4231		chr16	TogoVar
PIGQ_chr16_564968_589109	584944	A A	ACCTCCCG others(97): Show ACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCT GTACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAAC CTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(142): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01934.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp2 HG03831.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18951.hp1 NA18959.hp2 NA18961.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp1 NA18994.hp2 NA18997.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp2 NA19088.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0002 a0005 a0007 others(2): Show a0002 a0005 a0007 a0010 a0012	a0002c0001 a0002c0006 a0002c0007 others(6): Show a0002c0001 a0002c0006 a0002c0007 a0002c0010 a0002c0016 a0005c0009 a0007c0014 a0010c0015 a0012c0012	a0002c0001t0001 a0002c0001t0005 a0002c0001t0011 others(14): Show a0002c0001t0001 a0002c0001t0005 a0002c0001t0011 a0002c0001t0018 a0002c0001t0019 a0002c0001t0020 a0002c0001t0021 a0002c0001t0022 a0002c0001t0023 a0002c0006t0001 a0002c0007t0001 a0002c0010t0001 a0002c0016t0001 a0005c0009t0010 a0007c0014t0001 a0010c0015t0001 a0012c0012t0001	a0002c0001t0001g0004 a0002c0001t0001g0014 a0002c0001t0001g0015 others(131): Show a0002c0001t0001g0004 a0002c0001t0001g0014 a0002c0001t0001g0015 a0002c0001t0001g0017 a0002c0001t0001g0019 a0002c0001t0001g0021 a0002c0001t0001g0022 a0002c0001t0001g0024 a0002c0001t0001g0025 a0002c0001t0001g0026 a0002c0001t0001g0027 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0093 a0002c0001t0001g0094 a0002c0001t0001g0095 a0002c0001t0001g0097 a0002c0001t0001g0098 a0002c0001t0001g0101 a0002c0001t0001g0102 a0002c0001t0001g0103 a0002c0001t0001g0106 a0002c0001t0001g0107 a0002c0001t0001g0112 a0002c0001t0001g0115 a0002c0001t0001g0116 a0002c0001t0001g0118 a0002c0001t0001g0120 a0002c0001t0001g0121 a0002c0001t0001g0123 a0002c0001t0001g0124 a0002c0001t0001g0126 a0002c0001t0001g0128 a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0133 a0002c0001t0001g0134 a0002c0001t0001g0137 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0151 a0002c0001t0001g0152 a0002c0001t0001g0158 a0002c0001t0001g0160 a0002c0001t0001g0162 a0002c0001t0001g0166 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0175 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0205 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0234 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0307 a0002c0001t0005g0016 a0002c0001t0005g0020 a0002c0001t0005g0104 a0002c0001t0005g0119 a0002c0001t0005g0122 a0002c0001t0005g0130 a0002c0001t0005g0136 a0002c0001t0005g0143 a0002c0001t0005g0153 a0002c0001t0005g0154 a0002c0001t0005g0161 a0002c0001t0005g0164 a0002c0001t0005g0174 a0002c0001t0005g0190 a0002c0001t0005g0192 a0002c0001t0005g0217 a0002c0001t0011g0150 a0002c0001t0011g0201 a0002c0001t0018g0170 a0002c0001t0019g0236 a0002c0001t0020g0218 a0002c0001t0021g0092 a0002c0001t0022g0149 a0002c0001t0023g0096 a0002c0006t0001g0200 a0002c0007t0001g0017 a0002c0007t0001g0018 a0002c0007t0001g0105 a0002c0010t0001g0004 a0002c0010t0001g0111 a0002c0016t0001g0156 a0005c0009t0010g0135 a0005c0009t0010g0211 a0007c0014t0001g0004 a0010c0015t0001g0163 a0012c0012t0001g0043	145	177	0.8192	104	c.19 others(115): Show c.1909_*1910insCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACACCCCCAACCTGTACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCC ACCAACACCCCCAACCTGTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		836		chr16	TogoVar
PIGQ_chr16_564968_589109	584944	A A	ACCTCCCG others(97): Show ACCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAACCT GTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCACCAACACCCCCAAC CTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0145 a0002c0001t0001g0145	1	33	0.0303	104	c.19 others(115): Show c.1909_*1910insCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCCAC CAACACCCCCAACCTGTGCCTCCCGCTCCCCCCAGCTGCCCACCGGGTCC ACCAACACCCCCAACCTGTG	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding		836		chr16	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(97): Show AGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAA AGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	100	0.0100	104	c.-32 others(115): Show c.-3277_-3276insGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAAGGAGGGAAAGGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(97): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0111 a0003c0003t0002g0111	1	163	0.0061	104	c.200 others(123): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(97): Show CTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCT TTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	77	0.0130	104	c.-33 others(115): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTGCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(97): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCT TTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 NA19000.hp1 HG01346.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0070 a0001c0002t0008g0105 a0001c0001t0001g0070 a0001c0002t0008g0105	2	78	0.0256	104	c.-33 others(115): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTTTTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(97): Show CTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTTTCTTTTT TTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0016 a0001c0039t0016	a0001c0039t0016g0007 a0001c0039t0016g0007	1	77	0.0130	104	c.-33 others(115): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTGCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTTTTTCTTTTTTTCTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLD3_chr19_40343695_40383485	40377299	C C	CACAGGCA others(97): Show CACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGT CAGGGCTGGGATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAG GAGGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(137): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp2 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02965.hp2 HG03130.hp1 HG03139.hp1 HG03471.hp2 HG03491.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18944.hp2 NA18947.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18975.hp1 NA18979.hp1 NA18980.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19068.hp2 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0003c0009 others(1): Show a0001c0001 a0001c0006 a0003c0009 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0006t0001 a0003c0009t0001 a0004c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(96): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0079 a0001c0001t0001g0085 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0181 a0001c0001t0001g0210 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0004g0005 a0001c0001t0004g0108 a0001c0001t0004g0115 a0001c0001t0004g0178 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0255 a0001c0001t0006g0074 a0001c0001t0009g0107 a0001c0001t0009g0135 a0001c0001t0009g0158 a0001c0001t0010g0142 a0001c0001t0010g0155 a0001c0001t0012g0273 a0001c0001t0014g0271 a0001c0001t0015g0260 a0001c0006t0001g0014 a0003c0009t0001g0010 a0004c0007t0001g0001	140	283	0.4947	104	c.118 others(121): Show c.1186-384_1186-383insTACAGGCAGAGGGGTCAGGGCTGGGATG GAGGAGGTACAGGCAGAGGGGTCAGGGCTGGGATGGGGGGGCACAGGCAG AGGGGTCAGGGCTGGGATGGAGGAGG	PLD3	ENSG00000105223.21	transcript	ENST00000409735.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
PLEKHG7_chr12_92697989_92777455	92745329	C C	CCACTTTT others(97): Show CCACTTTTCCCTGTTCTAGTTCACTATGTTGGCCAGGCTGGTCTTGAAAT ACATAGTGAAGCCCCGTCTCTACCGAAAATATAAAAAATTTGCCAGGCAC GGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02572.hp1 HG03098.hp1 others(2): Show HG02055.hp1 HG02572.hp1 HG03098.hp1 HG03486.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0006 a0002c0003t0004 a0002c0003t0022 a0002c0002t0006 a0002c0003t0004 a0002c0003t0022	a0002c0002t0006g0026 a0002c0003t0004g0023 a0002c0003t0004g0024 others(2): Show a0002c0002t0006g0026 a0002c0003t0004g0023 a0002c0003t0004g0024 a0002c0003t0004g0225 a0002c0003t0022g0022	5	250	0.0200	104	c.113 others(121): Show c.1138-147_1138-146insCTTTTCCCTGTTCTAGTTCACTATGTTG GCCAGGCTGGTCTTGAAATACATAGTGAAGCCCCGTCTCTACCGAAAATA TAAAAAATTTGCCAGGCACGGTGGCA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHH1_chr14_67528290_67594612	67569373	G G	GTCCCACC others(97): Show GTCCCACCTAGGAGGGAAAGGGAAGTCGTACAGGTTCAGCCCATCACAGG AAAGTAGCCAGTCACAGAGCTGGAAGGGATCTGAGAGGGGGCCTCCAGCC CAGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01167.hp1 HG01993.hp1 others(8): Show HG00733.hp2 HG01167.hp1 HG01993.hp1 HG02300.hp1 HG03017.hp2 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 NA19087.hp2	a0002 a0007 a0020 a0002 a0007 a0020	a0002c0011 a0002c0025 a0002c0067 others(2): Show a0002c0011 a0002c0025 a0002c0067 a0007c0008 a0020c0066	a0002c0011t0001 a0002c0011t0005 a0002c0025t0005 others(3): Show a0002c0011t0001 a0002c0011t0005 a0002c0025t0005 a0002c0067t0005 a0007c0008t0001 a0020c0066t0001	a0002c0011t0001g0262 a0002c0011t0001g0263 a0002c0011t0005g0133 others(8): Show a0002c0011t0001g0262 a0002c0011t0001g0263 a0002c0011t0005g0133 a0002c0011t0005g0350 a0002c0011t0005g0355 a0002c0025t0005g0220 a0002c0025t0005g0221 a0002c0025t0005g0223 a0002c0067t0005g0351 a0007c0008t0001g0093 a0020c0066t0001g0207	11	412	0.0267	104	c.134 others(121): Show c.1342+166_1342+269dupAGGAGGGAAAGGGAAGTCGTACAGGTTC AGCCCATCACAGGAAAGTAGCCAGTCACAGAGCTGGAAGGGATCTGAGAG GGGGCCTCCAGCCCAGCCTCCCACCT	PLEKHH1	ENSG00000054690.14	transcript	ENST00000329153.10	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLVAP_chr19_17346455_17382342	17349191	T T	TCTTTCTT others(97): Show TCTTTCTTTCTTTCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	419	0.0024	104	c.31 others(115): Show c.3170_*3171insGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAGAAAGAAAGAAAG	PLVAP	ENSG00000130300.9	transcript	ENST00000252590.9	protein_coding		2263		chr19	TogoVar
PNLDC1_chr6_159795276_159825704	159816140	G G	GCCACACC others(97): Show GCCACACCCCCTCCCCACCCACCCGCCACACCCCTCCCCTCCCCCCCCAC CTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCCACACCCCTCCCC GCCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0148 a0001c0002t0001g0148	1	135	0.0074	104	c.106 others(121): Show c.1060+116_1060+117insCTCCCCACCCACCCGCCACACCCCTCCC CTCCCCCCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCC ACACCCCTCCCCGCCCCCCACACCCC	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PNLDC1_chr6_159795276_159825704	159816154	C C	CCACCCAC others(97): Show CCACCCACCCGCCACACCCCTCCCCTCCCCCCCACCTCCCCCTGCCCCAC CCACACCCCTCCCTGCCCCCCCACACCCCCTCCCCGCCCCCCACACCCCT CCCCA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	397	0.0025	104	c.106 others(121): Show c.1060+121_1060+122insCACCCACCCGCCACACCCCTCCCCTCCC CCCCACCTCCCCCTGCCCCACCCACACCCCTCCCTGCCCCCCCACACCCC CTCCCCGCCCCCCACACCCCTCCCCA	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding	13/18			chr6	TogoVar
PNMA5_chrX_152983824_152999116	152998672	A A	AAATATAT others(97): Show AAATATATATAAATATATATTATATATATTATATTATATAAATAATATAT ATTATATATTATACATAATATATAATATATATTATTTATATAATATAATA TATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	4	0.2500	104	c.-49 others(115): Show c.-4970_-4969insATATATATTATATTATATAAATAATATATATTAT ATATTATGTATAATATATAATATATATTATTTATATAATATAATATATAT AATATATATTTATATATATT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4557		chrX	TogoVar
PNPLA3_chr22_43918805_43952582	43948714	T T	TGCATTTG others(97): Show TGCATTTGAGTACAGTACGTACAAGACAGTACTCACCTTTTCCCCAGGTG TGATAATCTATTGACTGACAGGTATATGAATGACGTGTATTTTTTTCTAT TTATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0143 a0002c0002t0008g0143	1	418	0.0024	104	c.23 others(115): Show c.2332_*2333insGCATTTGAGTACAGTACGTACAAGACAGTACTCA CCTTTTCCCCAGGTGTGATAATCTATTGACTGACAGGTATATGAATGACG TGTATTTTTTTCTATTTATG	PNPLA3	ENSG00000100344.11	transcript	ENST00000216180.8	protein_coding		1133		chr22	TogoVar

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