Joint Open Genome and Omics Platform (JoGo)

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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
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0046 a0001c0001t0005g0046	1	177	0.0056	19	c.368 others(34): Show c.368-806_368-788dupTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAEP_chr9_135556756_135571955	135560545	T T	TGTATACA others(12): Show TGTATACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02896.hp2 NA19030.hp1 HG02055.hp1 HG02896.hp2 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0017 a0002c0002t0001g0017	3	8	0.3750	19	c.-12 others(30): Show c.-1257_-1256insGTATACACACACACACACA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		1210		chr9	TogoVar
PAEP_chr9_135556756_135571955	135560545	T T	TGTGTGTA others(12): Show TGTGTGTATACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	7	0.2857	19	c.-12 others(30): Show c.-1257_-1256insGTGTGTATACACACACACA	PAEP	ENSG00000122133.17	transcript	ENST00000479141.6	protein_coding		1210		chr9	TogoVar
PAFAH1B2_chr11_117139287_117176045	117149430	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0072	a0001c0001t0072g0203 a0001c0001t0072g0203	1	130	0.0077	19	c.-7- others(34): Show c.-7-2997_-7-2996insTTTTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117154481	C C	CATTACAG others(12): Show CATTACAGCTTGCACCATTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0127 a0001c0001t0074g0127	1	430	0.0023	19	c.81+ others(34): Show c.81+1954_81+1972dupATTACAGCTTGCACCATTA	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAG1_chr8_80962810_81117068	81065982	T T	TCCAAAGT others(12): Show TCCAAAGTGAATGAAGTATC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0050 a0001c0001t0007g0050	1	254	0.0039	19	c.-17 others(38): Show c.-175+4111_-175+4129dupGATACTTCATTCACTTTGG	PAG1	ENSG00000076641.4	transcript	ENST00000220597.4	protein_coding	2/8			chr8	TogoVar
PAH_chr12_102831889_102922244	102835820	C C	CACATTGT others(12): Show CACATTGTAAAATGATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	312	0.0032	19	c.33 others(30): Show c.3354_*3355insTTTAATCATTTTACAATGT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding		1068		chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00733.hp1 others(19): Show HG00099.hp1 HG00323.hp1 HG00733.hp1 HG01071.hp1 HG01081.hp1 HG01257.hp2 HG01358.hp1 HG01993.hp2 HG02273.hp1 HG02273.hp2 HG02602.hp2 HG03017.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG04204.hp2 HG04228.hp2 NA18981.hp1 NA19011.hp2 NA19065.hp2 NA19077.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0175 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0271 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0300 a0001c0001t0012g0203	22	38	0.5789	19	c.125 others(38): Show c.1253-1796_1253-1778dupTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAIP1_chr5_43521267_43562077	43531676	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	328	0.0030	19	c.125 others(38): Show c.1253-1798_1253-1797insCTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00639.hp1 HG03688.hp2 others(3): Show HG00408.hp1 HG00639.hp1 HG03688.hp2 NA18941.hp2 NA18970.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0001g0153 a0001c0001t0001g0161 others(3): Show a0001c0001t0001g0107 a0001c0001t0001g0153 a0001c0001t0001g0161 a0001c0001t0001g0171 a0001c0001t0002g0176 a0001c0001t0002g0190	6	121	0.0496	19	c.-21 others(38): Show c.-21-36534_-21-36516dupTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	40	0.0250	19	c.-48 others(30): Show c.-4885_-4884insAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833456	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0084 a0001c0001t0018g0084	1	155	0.0065	19	c.50 others(30): Show c.5051_*5052insTATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		810		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833464	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	103	0.0097	19	c.50 others(30): Show c.5059_*5060insTATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		818		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833466	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0072 a0001c0001t0069g0072	1	81	0.0123	19	c.50 others(30): Show c.5061_*5062insTATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		820		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0067 a0001c0003t0006g0067	1	59	0.0169	19	c.50 others(30): Show c.5063_*5064insTATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	ATATATAT others(12): Show ATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 HG02451.hp2 NA18983.hp2 HG02300.hp2 HG02451.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0050 a0001c0002t0001 a0001c0001t0012 a0001c0001t0050 a0001c0002t0001	a0001c0001t0012g0034 a0001c0001t0050g0147 a0001c0002t0001g0004 a0001c0001t0012g0034 a0001c0001t0050g0147 a0001c0002t0001g0004	3	37	0.0811	19	c.50 others(30): Show c.5065_*5066insTATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	AAATATAT others(12): Show AAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	9	0.1111	19	c.50 others(30): Show c.5067_*5068insAATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		826		chr3	TogoVar
PAK4_chr19_39120786_39184404	39143592	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0276 a0001c0006t0011g0276	1	42	0.0238	19	c.-96 others(38): Show c.-96+17686_-96+17704dupAAAAAAAAAAAAAAAAAAA	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39158020	G G	GTGTGTGA others(12): Show GTGTGTGAGTGTGCATGTAT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	366	0.0027	19	c.-95 others(38): Show c.-95-10209_-95-10191dupTGTGTGAGTGTGCATGTAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK5_chr20_9532370_9844076	9766532	T T	TATATATA others(12): Show TATATATATTCAAGCAGAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0050 a0001c0002t0002g0050	1	87	0.0115	19	c.-16 others(40): Show c.-161-55098_-161-55097insGTTCTGCTTGAATATATAT	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9771582	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0038 a0001c0002t0003g0038	1	58	0.0172	19	c.-16 others(40): Show c.-161-60148_-161-60147insAAAAAAAAAAAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01070.hp1 others(17): Show HG00280.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01358.hp2 HG02080.hp1 HG02109.hp2 HG02735.hp2 HG02818.hp2 NA18943.hp2 NA18965.hp2 NA18973.hp1 NA18977.hp2 NA18982.hp1 NA18998.hp1 NA18998.hp2 NA19005.hp1 NA19011.hp1 NA19055.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 others(10): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0044 a0001c0001t0051 a0001c0001t0069 a0003c0004t0006 a0003c0004t0019 a0003c0004t0025	a0001c0001t0006g0251 a0001c0001t0006g0291 a0001c0001t0009g0100 others(17): Show a0001c0001t0006g0251 a0001c0001t0006g0291 a0001c0001t0009g0100 a0001c0001t0009g0167 a0001c0001t0013g0175 a0001c0001t0014g0063 a0001c0001t0025g0229 a0001c0001t0026g0301 a0001c0001t0026g0302 a0001c0001t0032g0058 a0001c0001t0044g0162 a0001c0001t0051g0288 a0001c0001t0069g0282 a0003c0004t0006g0047 a0003c0004t0006g0074 a0003c0004t0006g0239 a0003c0004t0019g0020 a0003c0004t0019g0042 a0003c0004t0019g0238 a0003c0004t0025g0044	20	37	0.5405	19	c.187 others(36): Show c.1879-643_1879-625dupTTTTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(12): Show ATATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0151 a0001c0010t0001g0151	1	76	0.0132	19	c.-39 others(30): Show c.-3981_-3980insAAATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(12): Show ATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0209 a0016c0016t0001g0209	1	76	0.0132	19	c.-39 others(30): Show c.-3981_-3980insAAAAAAAAATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(12): Show ATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 NA18962.hp2 HG00609.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0016 a0001c0001t0001g0017	2	77	0.0260	19	c.-39 others(30): Show c.-3981_-3980insAAAAAAAAAAATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(12): Show GCCCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02717.hp2 HG02717.hp2	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0042 a0005c0015t0042	a0005c0015t0042g0266 a0005c0015t0042g0266	1	39	0.0256	19	c.186 others(30): Show c.186-3_186-2insCCCCCCCCCCCCCCCCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168889165	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0137 a0001c0001t0002g0137	1	152	0.0066	19	c.196 others(38): Show c.1965-1756_1965-1755insTGTGTGTGTGTGTGTGTGG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110011014	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0202	1	88	0.0114	19	c.497 others(36): Show c.497-4939_497-4938insAAAAAAAAAAATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG04199.hp1 HG03017.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0208 a0001c0001t0001g0187 a0001c0001t0001g0208	2	130	0.0154	19	c.583 others(34): Show c.583-962_583-961insAAAAAAAAATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 NA18960.hp2 HG02258.hp2 HG03486.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024	a0001c0001t0006g0283 a0001c0001t0007g0151 a0001c0001t0024g0287 a0001c0001t0006g0283 a0001c0001t0007g0151 a0001c0001t0024g0287	3	123	0.0244	19	c.367 others(36): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp1 HG01516.hp2 others(3): Show HG00323.hp2 HG01071.hp1 HG01516.hp2 HG01934.hp1 HG03834.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0017 a0001c0002t0020 others(2): Show a0001c0002t0007 a0001c0002t0017 a0001c0002t0020 a0001c0002t0035 a0001c0002t0040	a0001c0002t0007g0331 a0001c0002t0017g0340 a0001c0002t0020g0006 others(3): Show a0001c0002t0007g0331 a0001c0002t0017g0340 a0001c0002t0020g0006 a0001c0002t0035g0336 a0001c0002t0035g0371 a0001c0002t0040g0291	6	288	0.0208	19	c.118 others(36): Show c.118-3386_118-3368dupTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	AGGGGATT others(12): Show AGGGGATTGTGTGAGAGGGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	30	0.0333	19	c.4-1 others(32): Show c.4-1447_4-1446insCCCCTCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM_chr5_102750305_103034716	102766926	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02258.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0033 a0001c0001t0003g0034 a0001c0001t0001g0033 a0001c0001t0003g0034	2	27	0.0741	19	c.-37 others(40): Show c.-374+11591_-374+11609dupTTTTTTTTTTTTTTTTTTT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28142511	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0126 a0001c0001t0010g0126	1	111	0.0090	19	c.430 others(36): Show c.430+3425_430+3443dupTTTTTTTTTTTTTTTTTTT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAAAAAAT others(12): Show AAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0301 a0001c0001t0002g0301	1	156	0.0064	19	c.900 others(36): Show c.900-1845_900-1844insATATATATATATATTTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK1_chr10_89577988_89650242	89641632	T T	TGAGGCAG others(12): Show TGAGGCAGGAGAATGGCGTG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG00597.hp1 others(32): Show HG00438.hp1 HG00558.hp2 HG00597.hp1 HG00639.hp2 HG01069.hp1 HG01934.hp2 HG01952.hp2 HG02004.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp2 NA18946.hp2 NA18963.hp1 NA18965.hp2 NA18986.hp1 NA18989.hp2 NA18993.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19056.hp1 NA19057.hp2 NA19059.hp2 NA19065.hp1 NA19068.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0021 a0001c0004t0001	a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0138 others(28): Show a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0110 a0001c0001t0003g0141 a0001c0001t0005g0009 a0001c0001t0005g0010 a0001c0001t0005g0111 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0120 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0226 a0001c0001t0021g0304 a0001c0004t0001g0140	35	364	0.0962	19	c.292 others(36): Show c.292+2949_292+2967dupCACGCCATTCTCCTGCCTC	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	1/6			chr10	TogoVar
PANK2_chr20_3884387_3934887	3892441	T T	TCTTTTTT others(12): Show TCTTTTTTATTTATTGTTGG	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0034 a0001c0003t0010g0034	1	420	0.0024	19	c.298 others(36): Show c.298+2714_298+2732dupCTTTTTTATTTATTGTTGG	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	108	0.0093	19	c.29- others(30): Show c.29-33_29-32insATATATATATATATATTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0092 a0001c0001t0008g0092	1	108	0.0093	19	c.29- others(30): Show c.29-33_29-32insATATATATATATATATATT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANX1_chr11_94123841_94186968	94134631	T T	TCTCTCCC others(12): Show TCTCTCCCCCCTCCCTCTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG04184.hp1 NA18968.hp1 HG03704.hp1 HG04184.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212	3	405	0.0074	19	c.181 others(36): Show c.181+5161_181+5179dupTCCCCCCTCCCTCTTCCTC	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAOX_chr10_133374262_133396694	133395067	G G	GAGCCAGT others(12): Show GAGCCAGTGTTACTCTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp2 HG02040.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0002 a0001c0001t0001g0004	2	344	0.0058	19	c.36 others(30): Show c.3612_*3613insAGCCAGTGTTACTCTGTGT	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		3374		chr10	TogoVar
PAPLN_chr14_73232506_73279623	73258618	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02080.hp2 others(9): Show HG00597.hp1 HG00673.hp1 HG02080.hp2 NA18956.hp1 NA18973.hp1 NA18975.hp2 NA18998.hp2 NA19002.hp2 NA19010.hp1 NA19010.hp2 NA19068.hp1 NA19085.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0023	a0001c0004 a0003c0002 a0006c0008 others(1): Show a0001c0004 a0003c0002 a0006c0008 a0023c0034	a0001c0004t0001 a0003c0002t0001 a0006c0008t0001 others(1): Show a0001c0004t0001 a0003c0002t0001 a0006c0008t0001 a0023c0034t0001	a0001c0004t0001g0199 a0001c0004t0001g0208 a0003c0002t0001g0018 others(8): Show a0001c0004t0001g0199 a0001c0004t0001g0208 a0003c0002t0001g0018 a0003c0002t0001g0042 a0003c0002t0001g0169 a0003c0002t0001g0183 a0003c0002t0001g0194 a0006c0008t0001g0120 a0006c0008t0001g0126 a0006c0008t0001g0167 a0023c0034t0001g0153	12	146	0.0822	19	c.162 others(36): Show c.1628-359_1628-341dupAAAAAAAAAAAAAAAAAAA	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPOLA_chr14_96497382_96572116	96507280	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	46	0.0217	19	c.8+4 others(32): Show c.8+4687_8+4705dupTTTTTTTTTTTTTTTTTTT	PAPOLA	ENSG00000090060.19	transcript	ENST00000216277.13	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176498751	C C	CACAAAAA others(12): Show CACAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03225.hp1 HG03688.hp1 others(1): Show HG02735.hp2 HG03225.hp1 HG03688.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0008 a0001c0002t0014 a0001c0003t0028 a0001c0001t0008 a0001c0002t0014 a0001c0003t0028	a0001c0001t0008g0079 a0001c0001t0008g0084 a0001c0002t0014g0005 others(1): Show a0001c0001t0008g0079 a0001c0001t0008g0084 a0001c0002t0014g0005 a0001c0003t0028g0080	4	101	0.0396	19	c.-91 others(40): Show c.-917+35334_-917+35335insCAAAAAAAAAAAAAAAAAA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116193618	T T	TTAGACAC others(12): Show TTAGACACCAGCTTAAAACC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0057 a0002c0004t0057	a0002c0004t0057g0045 a0002c0004t0057g0045	1	232	0.0043	19	c.147 others(38): Show c.1478+5404_1478+5422dupAGACACCAGCTTAAAACCT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18991.hp1 NA19084.hp2 NA18943.hp1 NA18991.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0108 a0001c0001t0013g0139 a0001c0001t0013g0276 a0001c0001t0013g0108 a0001c0001t0013g0139 a0001c0001t0013g0276	3	101	0.0297	19	c.381 others(31): Show c.381+6_381+24dupAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300898	T T	TCTCTCTC others(12): Show TCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01884.hp1 HG00280.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0136 a0001c0001t0002g0170 a0001c0001t0001g0136 a0001c0001t0002g0170	2	277	0.0072	19	c.-27 others(38): Show c.-277+1842_-277+1843insCTCTCTCTCTCTCTCTCTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8			chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300898	T T	TTTCTCTC others(12): Show TTTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	276	0.0036	19	c.-27 others(38): Show c.-277+1843_-277+1844insTCTCTCTCTCTCTCTCTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69301859	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	4	0.2500	19	c.-27 others(38): Show c.-277+2822_-277+2840dupTTTTTTTTTTTTTTTTTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG03516.hp1 HG02055.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	2	131	0.0153	19	c.-30 others(30): Show c.-3007_-3006insATATATATTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar

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