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
OR1F1_chr16_3183204_3211556	3198019	A A	AGGAGAGG others(209): Show AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0246 a0001c0001t0002g0246	1	225	0.0044	216	c.-12 others(233): Show c.-12-6205_-12-6204insGGGAGAAGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4F17_chr19_102104_118156	107934	T T	TTATTATA others(209): Show TTATTATATAATATATATATTATTATATAATATAATATATATTATATAAT ATATTTTATTATATAATATAATATATATTATATAATATAATATATTTTAT TATATAATATATATTATATTATATAATATAATATATATTAATATAAATAT ATATTATATTATATAATATAATATATATTATATAATATAATATATTTTAT TATATAAATATATATTA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	40	0.0250	216	c.-55 others(231): Show c.-55+393_-55+394insTATATTATTATATAATATAATATATATTAT ATAATATATTTTATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAATATATATTATATTATATAATATAATATATATTAATATA AATATATATTATATTATATAATATAATATATATTATATAATATAATATAT TTTATTATATAAATATATATTATATTATATAATATA	OR4F17	ENSG00000176695.8	transcript	ENST00000585993.3	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr19	TogoVar
OTOG_chr11_17542259_17651044	17552531	C C	CCCCACCT others(209): Show CCCCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCCTCACCTGTACTG TGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC TCACCTGTCCTGTGTCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0040 a0040	a0040c0053 a0040c0053	a0040c0053t0001 a0040c0053t0001	a0040c0053t0001g0243 a0040c0053t0001g0243	1	240	0.0042	216	c.292 others(231): Show c.292+473_292+474insTCCCACCTGTCCTGTGTCCCTCACCTGTAC TGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCACCT GTCCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCC ACCTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC CCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
OTOG_chr11_17542259_17651044	17552541	C C	CCTGTGTC others(209): Show CCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCTCCCAC CTGTCCTGTGTCCCTCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTG TCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCC TGTGTCCCCCACCTGTA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0080 a0080	a0080c0140 a0080c0140	a0080c0140t0001 a0080c0140t0001	a0080c0140t0001g0010 a0080c0140t0001g0010	1	266	0.0038	216	c.293 others(231): Show c.293-515_293-514insTCACCTGTCCTGTGTCTCCCACCTGTCCTG TGTCCCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCACCTGT CCTGTGTCTCCCACCTGTCCTGTGTCCCCCACCTGTCCTGTGTCCCCCAC CTGTCCTGTGTCCCCCACCTGTACTGTGTCCCCCACCTGTCCTGTGTCCC CCACCTGTCCTGTGTCTCCCACCTGTCCTGTGTCCC	OTOG	ENSG00000188162.12	transcript	ENST00000399397.6	protein_coding	4/55		INFO_REALIGN_3_PRIME	chr11	TogoVar
PADI1_chr1_17200128_17251007	17241543	A A	AGAATCGG others(209): Show AGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGA ATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAG TGAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATC GGGATGGAATCAGGGTTGGAAGTGAAAGTCGGAATCGGGATGGAATCAGG GTTGGAAGTGAATGTCG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0020 a0001c0005t0020	a0001c0005t0020g0341 a0001c0005t0020g0341	1	379	0.0026	216	c.175 others(234): Show c.1758+915_1758+1130dupGAAGTGAATGTCGGAATCGGGATGGAA TCAGGGTTGGAAGTGAAAGTCGGAATCGGGATGGAATCAGGGTTGGAAGT GAATGTCGGAATCGGGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCG GGATGGAATCAGGGTTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGG TTGGAAGTGAATGTCGGAATCGGGATGGAATCAGGGTTG	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(209): Show TCCTCCCCCTCCCCTCCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCT CCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCTCCCCTCCCCTC CCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT CCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0220 a0001c0001t0008g0220	1	68	0.0147	216	c.226 others(235): Show c.2262+7531_2262+7532insCTCCCCTCCCCCCTCCTCCCCTTCCT CCCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCC CCCCTCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCA CTCCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGCCGGG others(209): Show GGGCCGGGGGGGGCGGGGGCGGGGTCGGTGGTCCGCGGGCGGGGGGCGGG GGGGCAGCTGGGCGGGGGCGGCGGGGGGCGGGCGGGGGGCGGGGGGGGCG GGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGGGCGGGGGGGCGGGGG GGGCGGGGGGCGGGGGGGGGCGGGGGCGGGGGGCGGGGGGGGAGGCGGGG GGGCGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0204 a0001c0005t0004g0204	1	81	0.0123	216	c.-95 others(225): Show c.-958_-957insGGCCGGGGGGGGCGGGGGCGGGGTCGGTGGTCCGCG GGCGGGGGGCGGGGGGGCAGCTGGGCGGGGGCGGCGGGGGGCGGGCGGGG GGCGGGGGGGGCGGGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGGGC GGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGGCGGGGGCGGGGGGCGGG GGGGGAGGCGGGGGGGCGGGGGCGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(209): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTAATACATAT ATGTATTACATATATAACATGTAATACATATATAACATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02723.hp2 HG01109.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	2	123	0.0163	216	c.70 others(227): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(209): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTAATACATAT ATGTATTACATATATAACATGTAATACATATATAACATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	122	0.0082	216	c.70 others(227): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(209): Show TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATGTAATACATAT ATGTATTACATATATAACATGTAATACATATATAACATGTATTACATATA TGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	122	0.0082	216	c.70 others(227): Show c.7084_*7085insATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATGTAATACATATATGTATTACATATATAACATGTAATACATATATAA CATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0234 a0003c0004t0001g0235 a0003c0004t0001g0234 a0003c0004t0001g0235	2	245	0.0082	216	c.242 others(237): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0115 a0001c0001t0001g0106 a0001c0001t0001g0115	2	249	0.0080	216	c.242 others(237): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0029 a0003c0003t0001g0031	2	247	0.0081	216	c.242 others(237): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0231 a0002c0002t0001g0229 a0002c0002t0001g0231	2	251	0.0080	216	c.251 others(237): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0018 a0001c0002t0001g0126 a0001c0002t0001g0018 a0001c0002t0001g0126	2	269	0.0074	216	c.242 others(237): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0282 a0001c0002t0001g0283	2	269	0.0074	216	c.242 others(237): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0057 a0001c0001t0001g0058	2	269	0.0074	216	c.242 others(237): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0008 a0001c0001t0001g0009	2	279	0.0072	216	c.242 others(237): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0283 a0001c0005t0001g0284 a0001c0005t0001g0283 a0001c0005t0001g0284	2	279	0.0072	216	c.242 others(235): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB1_chr5_141345099_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0014 a0002c0004t0001g0012 a0002c0004t0001g0014	2	256	0.0078	216	c.240 others(237): Show c.2409+54836_2409+54837insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB1	ENSG00000254221.3	transcript	ENST00000523390.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB2_chr5_141354994_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0279 a0003c0003t0001g0281 a0003c0003t0001g0279 a0003c0003t0001g0281	2	265	0.0075	216	c.242 others(237): Show c.2421+44949_2421+44950insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB2	ENSG00000253910.3	transcript	ENST00000522605.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB3_chr5_141365242_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03098.hp1 HG02886.hp2 HG03098.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0288 a0003c0003t0001g0289	2	273	0.0073	216	c.241 others(237): Show c.2415+34696_2415+34697insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB3	ENSG00000262209.3	transcript	ENST00000576222.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB4_chr5_141382698_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp1 HG02886.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0010 a0001c0001t0001g0011	2	272	0.0074	216	c.239 others(237): Show c.2397+17224_2397+17225insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGG ACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCA TGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG CCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB4	ENSG00000253953.3	transcript	ENST00000519479.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB5_chr5_141392947_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0022 a0001c0001t0010g0023 a0001c0001t0010g0022 a0001c0001t0010g0023	2	277	0.0072	216	c.239 others(235): Show c.2397+6981_2397+6982insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAC TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCC ACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGB5	ENSG00000276547.2	transcript	ENST00000617380.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGB6_chr5_141403021_141517975	141407491	A A	ATTTCTGT others(209): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGC GGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGCATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03098.hp2 HG02886.hp1 HG03098.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0184 a0002c0009t0001g0186 a0002c0009t0001g0184 a0002c0009t0001g0186	2	279	0.0072	216	c.-71 others(225): Show c.-712_-711insTTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTT CATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCC CGCCACTACGCCCGGCTAATTTTTTGCATT	PCDHGB6	ENSG00000253305.3	transcript	ENST00000520790.2	protein_coding		529		chr5	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(209): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	182	0.0055	216	c.-26 others(227): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CGATAGAT others(209): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0011 a0001c0002t0004g0011	1	182	0.0055	216	c.-26 others(227): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCGATAGATACATCTATC TATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGA TACATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATC TATCTATCTATCGATAGATACATCTATCTATC	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PCLO_chr7_82749012_83167884	82999558	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTAAATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp1 HG02257.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0006 a0001c0016t0011 a0001c0001t0006 a0001c0016t0011	a0001c0001t0006g0179 a0001c0016t0011g0057 a0001c0001t0006g0179 a0001c0016t0011g0057	2	95	0.0211	216	c.330 others(237): Show c.3301-33072_3301-33071insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATTTAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999558	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0006 a0007c0006	a0007c0006t0010 a0007c0006t0010	a0007c0006t0010g0008 a0007c0006t0010g0008	1	94	0.0106	216	c.330 others(237): Show c.3301-33072_3301-33071insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATATAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999583	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAACATAAAATATAATATGT AATATTAAACATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0020 a0020	a0020c0111 a0020c0111	a0020c0111t0030 a0020c0111t0030	a0020c0111t0030g0152 a0020c0111t0030g0152	1	45	0.0222	216	c.330 others(237): Show c.3301-33097_3301-33096insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATATAATATTACATATTATATTTTATGTTTAATATTACATATT ATATTTTATGTTTAATATTACATATTATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999583	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTAAATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19088.hp2 NA18988.hp1 NA19088.hp2	a0023 a0023	a0023c0021 a0023c0021	a0023c0021t0002 a0023c0021t0002	a0023c0021t0002g0094 a0023c0021t0002g0095 a0023c0021t0002g0094 a0023c0021t0002g0095	2	46	0.0435	216	c.330 others(237): Show c.3301-33097_3301-33096insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATTTAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82999583	T T	TATAAAAC others(209): Show TATAAAACATAAAATATAATATGTAATATTAAATATAAAATATAATATGT AATATTAAATATAAAATATAATATGTAATATTATATATAAAATATAATAT GTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATAAT ATGTAATATTATATATAAAATATAATATGTAATATTATATATAAAATATA ATATGTAATATTATATA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0092 a0001c0001t0004g0092	1	45	0.0222	216	c.330 others(237): Show c.3301-33097_3301-33096insTATATAATATTACATATTATATTT TATATATAATATTACATATTATATTTTATATATAATATTACATATTATAT TTTATATATAATATTACATATTATATTTTATATATAATATTACATATTAT ATTTTATATATAATATTACATATTATATTTTATATTTAATATTACATATT ATATTTTATATTTAATATTACATATTATATTTTATGTTTTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCSK6_chr15_101298933_101494707	101493338	T T	TCCCCTCC others(209): Show TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCCATCCCCTCCCCACTTCCCCTCCCTCTCCCCTG CCCTCCCCCTCCCCCTCCCTCATCCCCTCCCCACTCCCCCTCCCCCTCCC CTCCCCCATCCCCTCCCCACTCCCCCTCCCCCTCCCCACTCCCCCTCCCC CTCCCCCTCCCCTCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0210 a0001c0002t0001g0210	1	334	0.0030	216	c.-36 others(227): Show c.-3669_-3668insGGGGAGGGGAGGGGGAGGGGGAGGGGGAGTGGGG AGGGGGAGGGGGAGTGGGGAGGGGATGGGGGAGGGGAGGGGGAGGGGGAG TGGGGAGGGGATGAGGGAGGGGGAGGGGGAGGGCAGGGGAGAGGGAGGGG AAGTGGGGAGGGGATGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding		3632		chr15	TogoVar
PDGFB_chr22_39218359_39249982	39220483	A A	ATGGATGG others(209): Show ATGGATGGATGGATGGACAGGTAGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATGGACAGGTGGATGGATGGATGGATGGATGGATGGATGG ATGGATGGATGGACAGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATAGATGGATGGATGGATGGACAGGTGGATGGATGGATGGATGGATGG ATGGGCAGGTGGACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0047 a0001c0001t0019g0047	1	384	0.0026	216	c.48 others(227): Show c.4858_*4859insCCTGTCCACCTGCCCATCCATCCATCCATCCATC CATCCACCTGTCCATCCATCCATCCATCTATCCATCCATCCATCCATCCA TCCATCCATCCATCTACCTGTCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACCTGTCCATCCATCCATCCATCCATCCATCCATCCA TCCATCCATCTACCTGTCCATCCATCCATCCA	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2875		chr22	TogoVar
PDIA5_chr3_123062025_123167104	123152003	T T	TCCTGCCT others(209): Show TCCTGCCTTCCTGCCTTCCTTCCTGCCTTCCTTCCTGCCTGCCTTCCTTC CTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGC CTGCCTTTCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCT GCCTTTCTTCCTGCCTG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	306	0.0033	216	c.127 others(235): Show c.1273+1642_1273+1643insGCCTTCCTGCCTTCCTTCCTGCCTTC CTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCT TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTC CTGCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCTTCCTTCCT GCCTGCCTTCCTTCCTGCCTGCCTTTCTTCCTGCCTGCCT	PDIA5	ENSG00000065485.20	transcript	ENST00000316218.12	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(209): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGGAAAAGAAAAGAAAAAAAGAAAGA AAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0192 a0002c0002t0001g0192	1	202	0.0050	216	c.20- others(231): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTCTTTTTTT CTTTTCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDSS2_chr6_107147562_107464564	107262608	T T	TAAAAATA others(209): Show TAAAAATACAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	258	0.0039	216	c.630 others(235): Show c.630+11420_630+11421insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTTTTTGTATTTTT	PDSS2	ENSG00000164494.12	transcript	ENST00000369037.9	protein_coding	3/7			chr6	TogoVar
PDXK_chr21_43714129_43767299	43741187	C C	CGGGGGGC others(209): Show CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0120 a0001c0001t0066g0120	1	251	0.0040	216	c.143 others(231): Show c.143-474_143-473insCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31837016	A A	AAAAGAAA others(209): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0040 a0001c0001t0010g0040	1	55	0.0182	216	c.476 others(235): Show c.476+37331_476+37332insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp2 others(65): Show HG00280.hp1 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01106.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01261.hp2 HG01496.hp1 HG01934.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02148.hp2 HG02683.hp2 HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18950.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19012.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19083.hp2 NA19091.hp2	a0001 a0007 a0021 others(1): Show a0001 a0007 a0021 a0022	a0001c0001 a0001c0007 a0007c0010 others(2): Show a0001c0001 a0001c0007 a0007c0010 a0021c0038 a0022c0035	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(4): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0007t0001 a0007c0010t0001 a0021c0038t0001 a0022c0035t0001	a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 a0001c0001t0008g0127 a0001c0007t0001g0078 a0007c0010t0001g0037 a0007c0010t0001g0080 a0021c0038t0001g0170 a0022c0035t0001g0156	68	309	0.2201	216	c.215 others(233): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCCCTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0001 a0001c0034t0001	a0001c0034t0001g0155 a0001c0034t0001g0155	1	242	0.0041	216	c.215 others(233): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGGGGGAGGCGGTTCCCGGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCTGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG04115.hp2 HG02735.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	243	0.0082	216	c.215 others(233): Show c.2150-853_2150-852insCGGGGGGAGTGGGAGGCGGTTCCCGGGG TTGCGGGGGGAGTGGGAGGCGGTTCCCAGGGTTGGTGGGGGGAGTGGGAG GCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGCGG GGGGAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTC CCGGGGTTGGTGGCGGGGGCAGGCGGTTCCCGGGGTTG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PGAP6_chr16_365788_386978	378138	A A	AGCCATCG others(209): Show AGCCATCGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACCC GCACTGCCATCGCCACCCGCACTGCCATCGCCACTCTGACTGCCATCGCC ACCCGCACTGCCATCCCCACCCGCACTGCCATCGCCACCCGCACTGCCAT CGCCACCCTGACTGCCATCGCCACCCGCACTGCCATCCCCACCCGCACTG CCATCGCCACCCGCACT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03834.hp1 HG03942.hp2 HG02735.hp1 HG03834.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0123 a0001c0001t0002g0029 a0001c0001t0002g0123	3	374	0.0080	216	c.122 others(231): Show c.122-291_122-290insAGTGCGGGTGGCGATGGCAGTGCGGGTGGG GATGGCAGTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGGCAGTGCGGG TGGCGATGGCAGTGCGGGTGGGGATGGCAGTGCGGGTGGCGATGGCAGTC AGAGTGGCGATGGCAGTGCGGGTGGCGATGGCAGTGCGGGTGGGGATGGC AGTGCGGGTGGCGATGGCAGTCAGGGTGGCGATGGC	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding	1/12			chr16	TogoVar
PITPNM3_chr17_6446263_6561555	6560558	C C	CTGGCAGG others(209): Show CTGGCAGGTCCTCGACGGGCCGAGAGCGGTGAGCAGAAGACGAAGAAGAA GAGCAGAGGAAGCAGAAGATGGTGACGAAGGAGACTGGCGAAGCGAAGAA GCGAGGAAGAAGAAGACGGAGAAGAAGACGGAAGATGGAGAAGAGGAAGC GGACGCTCTCGATTCTCCTCCTTCGACGATCCGGTCGCAGCCTCCGGCGA CGCTCCTCTTCTCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0007 a0002c0009t0007	a0002c0009t0007g0113 a0002c0009t0007g0113	1	214	0.0047	216	c.-41 others(227): Show c.-4153_-4152insAGGAGAGAAGAGGAGCGTCGCCGGAGGCTGCGAC CGGATCGTCGAAGGAGGAGAATCGAGAGCGTCCGCTTCCTCTTCTCCATC TTCCGTCTTCTTCTCCGTCTTCTTCTTCCTCGCTTCTTCGCTTCGCCAGT CTCCTTCGTCACCATCTTCTGCTTCCTCTGCTCTTCTTCTTCGTCTTCTG CTCACCGCTCTCGGCCCGTCGAGGACCTGCCA	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4004		chr17	TogoVar
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCTCCC others(209): Show GCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0048 a0048	a0048c0063 a0048c0063	a0048c0063t0005 a0048c0063t0005	a0048c0063t0005g0066 a0048c0063t0005g0066	1	82	0.0122	216	c.575 others(237): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401566	G G	GCCCCGCT others(209): Show GCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACC CGGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0096	1	190	0.0053	216	c.173 others(233): Show c.1737+861_1737+862insCCCCGCTCACCCCCGGCCCCGCTCACCC CCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACACCCGC CCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCG CTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLCL2_chr3_16879955_17095604	17063252	C C	CCCTCCCT others(209): Show CCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTGCCTG	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0081 a0001c0002t0001g0081	1	111	0.0090	216	c.309 others(235): Show c.3095-4701_3095-4700insCCCTCCCTCCCTCCCTCCCTGCCTCC CTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCT TCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTGCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp2 others(61): Show HG00280.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00738.hp2 HG01069.hp1 HG01070.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01261.hp2 HG01496.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp2 HG02683.hp1 HG03017.hp1 HG03239.hp1 HG03492.hp2 HG03669.hp2 HG03831.hp2 HG04115.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp1 NA18949.hp2 NA18950.hp1 NA18959.hp1 NA18961.hp1 NA18964.hp1 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18977.hp1 NA18979.hp1 NA18990.hp1 NA18990.hp2 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19070.hp2 NA19074.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA20905.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0007 a0002c0002 others(5): Show a0001c0001 a0001c0007 a0002c0002 a0002c0006 a0003c0003 a0003c0005 a0004c0004 a0004c0030	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0027 a0001c0007t0001 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0003c0005t0001 a0004c0004t0001 a0004c0030t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0039 a0001c0001t0001g0054 a0001c0001t0001g0082 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0150 a0001c0001t0004g0001 a0001c0001t0012g0001 a0001c0001t0014g0039 a0001c0001t0027g0001 a0001c0007t0001g0001 a0001c0007t0001g0026 a0002c0002t0001g0003 a0002c0006t0001g0001 a0003c0003t0001g0001 a0003c0003t0001g0004 a0003c0003t0001g0008 a0003c0003t0001g0144 a0003c0005t0001g0021 a0004c0004t0001g0100 a0004c0030t0001g0104	64	308	0.2078	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	245	0.0041	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCGG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(209): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCACCAACCCCGGGAACCGCCTCCCCCTCCCCCCGCAACCCCGGGAACC GCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	245	0.0041	216	c.29 others(227): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCCCTCCCCCC GCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar

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