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
NUBPL_chr14_31556404_31866224	31835752	A A	ACACCTGT others(312): Show ACACCTGTCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0265 a0002c0004t0006g0265	1	268	0.0037	319	c.693 others(336): Show c.693+9054_693+9055insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCACCTGTCTCATTTTT	NUBPL	ENSG00000151413.17	transcript	ENST00000281081.12	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
NUDCD1_chr8_109235919_109339087	109337068	T T	TCATTTAA others(312): Show TCATTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCT GGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACC CGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGC CTCGGCCTCCCAAAGTGCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0008 a0003c0011t0008	a0003c0011t0008g0031 a0003c0011t0008g0031	1	360	0.0028	319	c.-30 others(330): Show c.-3059_-3058insCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACG AGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGG AGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAG AGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAACTTTAAATG	NUDCD1	ENSG00000120526.12	transcript	ENST00000239690.9	protein_coding		2982		chr8	TogoVar
ODF3_chr11_191761_205258	195918	A A	AGGACCTG others(312): Show AGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGA GGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACCTG GTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACA TGGGGGGGACCTTGGTGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02486.hp1 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	388	0.0052	319	c.-11 others(330): Show c.-1137_-1136insGGACCTGGTGAGGGGACATGGGGGGGACCTTGGT GAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGG TGAGGAGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACAT GGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTT GGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACC TGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGAC CTGGTGAGGAGGACATGGGGGGGACCTTGGTGAGG	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		842		chr11	TogoVar
OR10A5_chr11_6840683_6851636	6845435	C C	CAAGATAT others(312): Show CAAGATATAAAATGGGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG03540.hp2 NA19043.hp2 HG02717.hp1 HG03540.hp2 NA19043.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0000 a0005c0004t0000	a0005c0004t0000g0000 a0005c0004t0000g0000	3	450	0.0067	319	c.-24 others(328): Show c.-248_-247insAAGATATAAAATGGGGCCGGGCGTGGTGGCTCACGC CTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAG GAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAA ATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTAC TTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGC AGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	OR10A5	ENSG00000166363.6	transcript	ENST00000299454.5	protein_coding		247		chr11	TogoVar
OR4P4_chr11_55630113_55645309	55641409	T T	TAGAAACT others(312): Show TAGAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0016 a0001c0001t0005g0016	1	224	0.0045	319	c.21 others(330): Show c.2113_*2114insAGAAACTCAGTGGAGGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGTGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	OR4P4	ENSG00000181927.4	transcript	ENST00000641760.1	protein_coding		1101		chr11	TogoVar
OR6C76_chr12_55421254_55432192	55430358	C C	CAAAAAAA others(312): Show CAAAAAAAACCCATCCTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0000 a0001c0003t0000	a0001c0003t0000g0000 a0001c0003t0000g0000	1	440	0.0023	319	c.31 others(330): Show c.3166_*3167insAAAAAAAACCCATCCTTGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAAGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	OR6C76	ENSG00000185821.3	transcript	ENST00000328314.3	protein_coding		3167		chr12	TogoVar
ORC3_chr6_87585135_87672451	87588370	T T	TTATTTTT others(312): Show TTATTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGGGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0010 a0010	a0010c0007 a0010c0007	a0010c0007t0001 a0010c0007t0001	a0010c0007t0001g0352 a0010c0007t0001g0352	1	378	0.0027	319	c.-17 others(330): Show c.-1799_-1798insTATTTTTTTTTTATTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAA TCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGGGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	ORC3	ENSG00000135336.16	transcript	ENST00000392844.8	protein_coding		1764		chr6	TogoVar
OS9_chr12_57689132_57726557	57689476	C C	CAAAAAAC others(312): Show CAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCG AGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	352	0.0028	319	c.-46 others(330): Show c.-4686_-4685insAAAAAACATTATAGTTTGGGCCGGGCGCGGTGGC TCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGA GGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	OS9	ENSG00000135506.17	transcript	ENST00000315970.12	protein_coding		4655		chr12	TogoVar
OSBPL8_chr12_76346797_76564771	76429263	T T	TAAAAAGT others(312): Show TAAAAAGTTCTTTATAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATTCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	238	0.0042	319	c.218 others(338): Show c.218-18630_218-18629insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGTGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGAATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCTATAAAGAACTTTTT	OSBPL8	ENSG00000091039.17	transcript	ENST00000261183.8	protein_coding	4/23			chr12	TogoVar
P2RX5_chr17_3668227_3701155	3680630	C C	CCAGTGTC others(312): Show CCAGTGTCCTCCACCCTGCATCCTCCACCCAGTGTCCTCCACCCTGCATC CTCCACCCTGCGTCCTCCACCCAGTGTCCTCCACCCTGCGTCCTCCACCC TGCATCCTCCACCCTGCATCCTCCACCCAGCGTCCTCCACCCTGCATCCT CCACCCTGCATCCTCCACCCTGAGTCCTCCACCCAGTGTCCTCCACCCTG CATCCTCCACCCAGTGTCCTCCACCCTGCATCCTCCACCCTGCATCCTCC ACCCTGCGTCCTCCACCCAGCGTCCTCCACCCGGCGTCCTCCACCCTGCT TCCTCCACCCGGCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	362	0.0028	319	c.106 others(336): Show c.1065-847_1065-846insAGAGGAAGCCGGGTGGAGGAAGCAGGGT GGAGGACGCCGGGTGGAGGACGCTGGGTGGAGGACGCAGGGTGGAGGATG CAGGGTGGAGGATGCAGGGTGGAGGACACTGGGTGGAGGATGCAGGGTGG AGGACACTGGGTGGAGGACTCAGGGTGGAGGATGCAGGGTGGAGGATGCA GGGTGGAGGACGCTGGGTGGAGGATGCAGGGTGGAGGATGCAGGGTGGAG GACGCAGGGTGGAGGACACTGGGTGGAGGACGCAGGGTGGAGGATGCAGG GTGGAGGACACTGGGTGGAGGATGCAGGGTGGAGGACACTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	10/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685878	G G	GCACAGCG others(312): Show GCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCG CCCCCCGCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGA CCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGG GCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAA CGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCTCCC AGCCTGAGAACAGGAGAACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0238 a0002c0002t0001g0238	1	362	0.0028	319	c.981 others(336): Show c.981+2133_981+2134insTGTTCTCCTGTTCTCAGGCTGGGAGGGG GGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTG TTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGT GCGTTCTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGG GGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGCGGGGGAC GTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCT GGGAGGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PACS1_chr11_66065272_66249744	66240777	T T	TTAATCTT others(312): Show TTAATCTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	322	0.0031	319	c.243 others(336): Show c.2430-636_2430-635insTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGC TCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTAATCTTGTTTTTT	PACS1	ENSG00000175115.13	transcript	ENST00000320580.9	protein_coding	21/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(312): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGG GGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGG AGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGG GAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGG AGGGGGAGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAA GGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	302	0.0033	319	c.155 others(336): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCC CCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCC CTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCC CTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77332351	A A	AGGGAAGG others(312): Show AGGGAAGGGAAGGGGAGGGGAGGGGAGGGGGGAGGGGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGG GGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGG GAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGG GGAGGGGAGGGGGAGGGAGGGGGGAGGGGAGGGGGAGGGAGGGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAA GGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	302	0.0033	319	c.155 others(336): Show c.1551+378_1551+379insCTTCCCTTCCCTTCCCTTCCTTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCC TCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCC TCCCCTCCCCCCTCCCTCCCCCTCCCCTCCCCCCTCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC CCTCCCCCCTCCCCCCTCCCCTCCCCTCCCCTTCCCTTCCC	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	14/14			chr11	TogoVar
PARD3_chr10_34104561_34820296	34282095	T T	TAAAATAC others(312): Show TAAAATACAAGTGCCAGGCCGGGCGCGGTGGCTCAAGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCTGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0096 a0001c0002t0009g0096	1	100	0.0100	319	c.317 others(338): Show c.3176+2039_3176+2040insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCTGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCAGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCTTGAGCCACCGCGCCCGGCCTGGCACTTGTATTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	21/24			chr10	TogoVar
PARP14_chr3_122675839_122735840	122726893	T T	TAATTTTA others(312): Show TAATTTTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGC TAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAATTAGCCGGGC GTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02809.hp2 HG02976.hp2 others(1): Show HG01346.hp2 HG02809.hp2 HG02976.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0207 a0001c0001t0002g0249 a0001c0001t0003g0023 a0001c0001t0002g0207 a0001c0001t0002g0249 a0001c0001t0003g0023	4	366	0.0109	319	c.494 others(336): Show c.4942-912_4942-911insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTTTA	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(312): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCAT CGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGC CGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	292	0.0034	319	c.-16 others(338): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CACTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCCACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC ACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACA CGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(312): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCACTGACGTAGCGCCACATGGTGGTGTCAGCAT CGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGC CGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA19066.hp1 HG00673.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0168 a0001c0001t0001g0154 a0001c0001t0001g0168	2	292	0.0069	319	c.-16 others(338): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTA GCGCCACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC ACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACA CGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCBP3_chr21_45638725_45947450	45746666	C C	CACACGGT others(312): Show CACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACAC GGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGG TGTCAGCATCGCCGTGTCAGTCCATTGACGTAGCGCACACGGTGGTGTCA GCATCGCCGTGTCAGTCCATTGACGTAGCGCCACATGGTGGTGTCAGCAT CGCCGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGC CGTGTCAGTCCACTGACGTAGCGCACACGGTGTTGTGTCAGCATCGCCGT GTCAGTCCACTGACGTAGCG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	292	0.0034	319	c.-16 others(338): Show c.-161-8751_-161-8750insACACGGTGGTGTCAGCATCGCCGTGT CAGTCCATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTC CATTGACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTG ACGTAGCGCACACGGTGGTGTCAGCATCGCCGTGTCAGTCCATTGACGTA GCGCCACATGGTGGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGC ACACGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCGCACA CGGTGTTGTGTCAGCATCGCCGTGTCAGTCCACTGACGTAGCG	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17			chr21	TogoVar
PCGF3_chr4_700832_775089	727735	T T	TAAAAAGG others(312): Show TAAAAAGGATGACTAGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCG AGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACG GTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGG CGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCG TGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACT CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0113 a0001c0001t0026g0113	1	366	0.0027	319	c.-18 others(338): Show c.-189-2881_-189-2880insGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTG GCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGATGACTA	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	759662	T T	TTCCGGAC others(312): Show TTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGCTCTTC TCGCTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAGTTC TTCTCCTTCCGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG TTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCCGCGCGGCCCCTCTCC CGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCCCTC TCCCGAGTTCTTCTCCTTCCGGACTCCGGGTCTTTCTCCCCTCGCGGCCC CTCTCCCGAGCTCTTCTCGC	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0129 a0001c0003t0010g0129	1	366	0.0027	319	c.463 others(336): Show c.463-1574_463-1573insCTCTTCTCGCTCCGGACTCCGGGTCTTT CTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGGGTC TTTCTCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACTCCGG GTCTTTCTCCCCCGCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGGACT CCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGTTCTTCTCCTTCCGG ACTCCGGGTCTTTCTCCCCTCGCGGCCCCTCTCCCGAGCTCTTCTCGCTC CGGACTCCGGGTCTTTCTCCCCGCGCGGCCCCTCTCCCGAG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCLO_chr7_82749012_83167884	82801192	A A	AATATACG others(312): Show AATATACGTTATATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG03492.hp2 others(1): Show HG01109.hp2 HG02602.hp2 HG03492.hp2 NA18954.hp1	a0002 a0015 a0024 others(1): Show a0002 a0015 a0024 a0069	a0002c0004 a0015c0094 a0024c0025 others(1): Show a0002c0004 a0015c0094 a0024c0025 a0069c0104	a0002c0004t0007 a0015c0094t0009 a0024c0025t0009 others(1): Show a0002c0004t0007 a0015c0094t0009 a0024c0025t0009 a0069c0104t0009	a0002c0004t0007g0099 a0015c0094t0009g0188 a0024c0025t0009g0064 others(1): Show a0002c0004t0007g0099 a0015c0094t0009g0188 a0024c0025t0009g0064 a0069c0104t0009g0071	4	188	0.0213	319	c.150 others(338): Show c.15007+325_15007+326insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATAACGTATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCLO_chr7_82749012_83167884	82801192	A A	AATATACG others(312): Show AATATACGTTATATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01934.hp1 HG02056.hp1 others(4): Show HG01255.hp1 HG01934.hp1 HG02056.hp1 HG02738.hp2 HG03492.hp1 NA18981.hp2 NA18988.hp2	a0002 a0004 a0005 others(3): Show a0002 a0004 a0005 a0010 a0011 a0025	a0002c0063 a0004c0002 a0005c0005 others(3): Show a0002c0063 a0004c0002 a0005c0005 a0010c0011 a0011c0027 a0025c0012	a0002c0063t0001 a0004c0002t0001 a0005c0005t0001 others(3): Show a0002c0063t0001 a0004c0002t0001 a0005c0005t0001 a0010c0011t0001 a0011c0027t0001 a0025c0012t0001	a0002c0063t0001g0128 a0004c0002t0001g0095 a0005c0005t0001g0159 others(4): Show a0002c0063t0001g0128 a0004c0002t0001g0095 a0005c0005t0001g0159 a0005c0005t0001g0170 a0010c0011t0001g0160 a0011c0027t0001g0048 a0025c0012t0001g0155	7	188	0.0372	319	c.150 others(338): Show c.15007+325_15007+326insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATATAACGTATAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	22/24			chr7	TogoVar
PCOLCE2_chr3_142812874_142894083	142886375	T T	TAAAACAC others(312): Show TAAAACACAATCACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	342	0.0029	319	c.192 others(336): Show c.192+1293_192+1294insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGTTGGAGTGCAGTGGCGCGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCTGCTACCACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGTGATTGTGTTTT	PCOLCE2	ENSG00000163710.9	transcript	ENST00000295992.8	protein_coding	2/8			chr3	TogoVar
PCSK5_chr9_75885673_76367975	76337136	G G	GAAGAATA others(312): Show GAAGAATAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0005 a0005	a0005c0002 a0005c0002	a0005c0002t0001 a0005c0002t0001	a0005c0002t0001g0078 a0005c0002t0001g0079 a0005c0002t0001g0078 a0005c0002t0001g0079	2	166	0.0121	319	c.474 others(338): Show c.4749-1081_4749-1080insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATAATTCAG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	34/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PDE11A_chr2_177618244_178077777	177919207	T T	TCTGCCTC others(312): Show TCTGCCTCAGCCTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCCGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGGCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG03209.hp1 others(2): Show HG01243.hp1 HG01884.hp1 HG03209.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0010t0008	a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 others(2): Show a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0010t0008g0061	5	170	0.0294	319	c.107 others(340): Show c.1072-14021_1072-14020insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGCCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCGGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGAGGCAG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDSS1_chr10_26692701_26751798	26751417	G G	GAAAGAAT others(312): Show GAAAGAATCCCCCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	416	0.0024	319	c.49 others(330): Show c.4944_*4945insAAAGAATCCCCCTGGCCGGGCGCGGTGGCTCACG CCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA	PDSS1	ENSG00000148459.16	transcript	ENST00000376215.10	protein_coding		4620		chr10	TogoVar
PDZRN3_chr3_73377431_73629941	73472034	G G	GCTGATTT others(312): Show GCTGATTTACTATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTTT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0171 a0001c0001t0002g0171	1	216	0.0046	319	c.919 others(338): Show c.919-67640_919-67639insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAAAAA AATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTA CTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTG CAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAATAGTAAATCAG	PDZRN3	ENSG00000121440.15	transcript	ENST00000263666.9	protein_coding	3/9			chr3	TogoVar
PEX10_chr1_2398974_2417564	2401346	C C	CTCCTCCC others(312): Show CTCCTCCCTCCTTCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCC CTCCTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTCCTTCCTCCTCCCTCC TTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTT CCTCCCTCCTCCTCCCTGCTTCCTCCTCCTCCCTCCTCCCCCTCCTCCCC TCCTCCCTCCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCCCTCCTTCCT CCCTCCTCCTCCCTCCCTCCTCCTTCCTCCCTCCTCCTTCCTCCCTCCTT CCTCCCTCCTCCTCCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03453.hp1 NA19240.hp1 HG02965.hp1 HG03453.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0026 a0001c0002t0015 a0001c0002t0026	a0001c0002t0015g0027 a0001c0002t0026g0055 a0001c0002t0015g0027 a0001c0002t0026g0055	3	358	0.0084	319	c.44 others(330): Show c.4419_*4420insAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAAG GAGGAGGGAGGAAGGAGGAGGGAGGGAGGAGGAGGGAGGAAGGAGGGAGG AGGGGGGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGGAGGAGGGGGA GGAGGGAGGAGGAGGAAGCAGGGAGGAGGAGGGAGGAAGAAGGGAGGAGG GAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAA GGAGGGAGGAAGGAGGGAGGAGGAGGGAGGGAGGAGGGAGGGAGGAGGGA GGAAGAAGGGAGGAGGAGGGAGGAAGGAGGGAGGA	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2627		chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(312): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAG GCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCAACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01123.hp2 HG01257.hp2 others(7): Show HG00323.hp2 HG01123.hp2 HG01257.hp2 HG01258.hp2 HG02258.hp2 HG02818.hp1 HG02896.hp2 HG03579.hp1 HG03688.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0010 a0001c0003t0018 others(2): Show a0001c0003t0006 a0001c0003t0010 a0001c0003t0018 a0001c0003t0019 a0001c0003t0035	a0001c0003t0006g0127 a0001c0003t0006g0135 a0001c0003t0006g0140 others(7): Show a0001c0003t0006g0127 a0001c0003t0006g0135 a0001c0003t0006g0140 a0001c0003t0010g0121 a0001c0003t0010g0129 a0001c0003t0010g0180 a0001c0003t0018g0122 a0001c0003t0018g0132 a0001c0003t0019g0141 a0001c0003t0035g0134	10	228	0.0439	319	c.16+ others(336): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCAACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR4_chr1_28364740_28505364	28419029	T T	TCTACTTT others(312): Show TCTACTTTTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG03471.hp2 others(3): Show HG02486.hp1 HG03453.hp1 HG03471.hp2 HG03579.hp2 NA19060.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0033 others(2): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0033 a0002c0002t0038 a0002c0002t0039	a0002c0002t0003g0203 a0002c0002t0007g0001 a0002c0002t0007g0002 others(3): Show a0002c0002t0003g0203 a0002c0002t0007g0001 a0002c0002t0007g0002 a0002c0002t0033g0193 a0002c0002t0038g0126 a0002c0002t0039g0151	6	228	0.0263	319	c.16+ others(336): Show c.16+11585_16+11586insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTG CAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCTACTTTTATGATTTTTTT	PHACTR4	ENSG00000204138.13	transcript	ENST00000373839.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHF14_chr7_10968872_11174618	11109418	T T	TAATATGT others(312): Show TAATATGTTTATTTGAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG03834.hp1 HG00642.hp1 HG00733.hp2 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0005 a0001c0004t0004 a0001c0004t0005	a0001c0004t0004g0193 a0001c0004t0005g0190 a0001c0004t0005g0191 a0001c0004t0004g0193 a0001c0004t0005g0190 a0001c0004t0005g0191	3	298	0.0101	319	c.265 others(338): Show c.2655-1917_2655-1916insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAG ATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAATATGTTTATTTGA	PHF14	ENSG00000106443.17	transcript	ENST00000634607.2	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
PHF2_chr9_93571584_93684587	93609090	T T	TTTAGTGG others(312): Show TTTAGTGGTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG01261.hp1 others(13): Show HG00280.hp2 HG00621.hp2 HG01261.hp1 HG01952.hp1 HG02135.hp1 HG02148.hp1 NA18942.hp2 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18965.hp2 NA18975.hp2 NA18986.hp1 NA18989.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 others(13): Show a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0053 a0001c0001t0002g0104 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0140 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0002c0002t0001g0242	16	350	0.0457	319	c.99- others(336): Show c.99-20866_99-20865insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTA TTTTTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGAATGGTCTCG ATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTTAGTGGTTGTTTT	PHF2	ENSG00000197724.12	transcript	ENST00000359246.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PHTF2_chr7_77793773_77962225	77945480	T T	TAAAAACT others(312): Show TAAAAACTAATACCAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAGCCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG03239.hp2 others(1): Show HG00140.hp1 HG01256.hp1 HG03239.hp2 NA20805.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0002 a0001c0003t0004g0004 a0001c0003t0004g0005 others(1): Show a0001c0003t0004g0002 a0001c0003t0004g0004 a0001c0003t0004g0005 a0001c0003t0004g0006	4	314	0.0127	319	c.185 others(338): Show c.1857+2709_1857+2710insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAGCCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAACTAATACCAA	PHTF2	ENSG00000006576.17	transcript	ENST00000422959.8	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
PIAS4_chr19_4002736_4044386	4011872	C C	CTGTGGGG others(312): Show CTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGAGGGGTGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0263 a0001c0005t0001g0263	1	334	0.0030	319	c.28- others(334): Show c.28-1032_28-1031insTGGGGTGTGGAGGTGTGTTTGGTGTGGAAG TGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGA GCTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAG GTGTGAGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4026295	G G	GCTAATTT others(312): Show GCTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTTTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp1 HG02451.hp2 others(4): Show HG01884.hp1 HG02257.hp1 HG02451.hp2 HG02647.hp2 HG02818.hp2 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0004 a0001c0006t0004 a0001c0002t0004 a0001c0006t0004	a0001c0002t0004g0169 a0001c0002t0004g0178 a0001c0002t0004g0200 others(4): Show a0001c0002t0004g0169 a0001c0002t0004g0178 a0001c0002t0004g0200 a0001c0006t0004g0026 a0001c0006t0004g0028 a0001c0006t0004g0030 a0001c0006t0004g0037	7	334	0.0210	319	c.540 others(336): Show c.540-1842_540-1841insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TGGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGCGAT CTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTA ATTTTTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTAATTTTT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(312): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01109.hp2 HG01361.hp1 others(4): Show HG01074.hp2 HG01109.hp2 HG01361.hp1 HG01361.hp2 HG02109.hp1 HG02293.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0060 a0001c0001t0002g0066 others(4): Show a0001c0001t0002g0003 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0168 a0001c0001t0002g0234 a0001c0001t0002g0246	7	246	0.0285	319	c.47 others(330): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PIGL_chr17_16212210_16331411	16330606	C C	CAAGACCA others(312): Show CAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	246	0.0041	319	c.47 others(330): Show c.4708_*4709insAAGACCATCCTGGTTGGCCGGGCGCGGTGGCTCA CGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGT CAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTA AAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGC TACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGC CTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	PIGL	ENSG00000108474.17	transcript	ENST00000225609.10	protein_coding		4196		chr17	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(312): Show GAAAGAATTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0083 a0001c0083	a0001c0083t0001 a0001c0083t0001	a0001c0083t0001g0125 a0001c0083t0001g0125	1	134	0.0075	319	c.976 others(332): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCGGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKHD1_chr6_51610299_52092613	52064864	G G	GAAAGAAT others(312): Show GAAAGAATTCAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGT GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00741.hp1 HG03225.hp2 others(4): Show HG00423.hp1 HG00741.hp1 HG03225.hp2 HG06807.hp1 HG06807.hp2 NA19054.hp1 NA19090.hp2	a0001 a0002 a0024 others(4): Show a0001 a0002 a0024 a0025 a0028 a0034 a0039	a0001c0002 a0002c0004 a0024c0068 others(4): Show a0001c0002 a0002c0004 a0024c0068 a0025c0072 a0028c0071 a0034c0085 a0039c0066	a0001c0002t0001 a0002c0004t0004 a0024c0068t0001 others(4): Show a0001c0002t0001 a0002c0004t0004 a0024c0068t0001 a0025c0072t0001 a0028c0071t0012 a0034c0085t0004 a0039c0066t0003	a0001c0002t0001g0107 a0002c0004t0004g0115 a0024c0068t0001g0091 others(4): Show a0001c0002t0001g0107 a0002c0004t0004g0115 a0024c0068t0001g0091 a0025c0072t0001g0095 a0028c0071t0012g0093 a0034c0085t0004g0096 a0039c0066t0003g0098	7	134	0.0522	319	c.976 others(332): Show c.976+90_976+91insTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCACAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGCGTGAGCCACCGCGCCCAGCCTGAATTCTTT	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	13/66			chr6	TogoVar
PKP3_chr11_389209_409908	398734	C C	CCCGCACA others(312): Show CCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACC TCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCT CCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGC ACACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCT ACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTCCGTCACCTCCCTACCG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	216	0.0046	319	c.106 others(336): Show c.1069-235_1069-234insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGCATCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TCCGTCACCTCCCTACCGCCGCACACACCTGCGTCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCH1_chr3_155474881_155750071	155665070	T T	TAAAAACT others(312): Show TAAAAACTGGCTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0060 a0001c0003t0001g0060	1	264	0.0038	319	c.79+ others(336): Show c.79+39075_79+39076insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCT CGATCTCTTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCTAGCCAGTTTTT	PLCH1	ENSG00000114805.18	transcript	ENST00000460012.7	protein_coding	2/22			chr3	TogoVar
PLCL2_chr3_16879955_17095604	16951859	T T	TGGGAATG others(312): Show TGGGAATGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCTTGTGAGCCAGGATGGTCTCGATCTCCT GACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	250	0.0040	319	c.328 others(338): Show c.328-57803_328-57802insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTGAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGGGAATGTTTTT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PLEKHA6_chr1_204213853_204364929	204269327	C C	CAGAAACC others(312): Show CAGAAACCTCATCTATTGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTGACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA ATTAGCCGGGCATGGTGGCGCGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGTCG AGATCGCGCCACTGCGCTCCAGCCTGGGCGACAGAGCGAAACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01175.hp1 HG01261.hp1 others(6): Show HG00741.hp1 HG01175.hp1 HG01261.hp1 HG01978.hp1 HG02074.hp2 HG02148.hp2 HG04204.hp1 NA18980.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0050 a0001c0001t0060	a0001c0001t0002g0106 a0001c0001t0004g0170 a0001c0001t0015g0083 others(6): Show a0001c0001t0002g0106 a0001c0001t0004g0170 a0001c0001t0015g0083 a0001c0001t0016g0077 a0001c0001t0016g0079 a0001c0001t0017g0129 a0001c0001t0026g0051 a0001c0001t0050g0078 a0001c0001t0060g0131	9	270	0.0333	319	c.103 others(336): Show c.103-1016_103-1015insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTTTCGCTCTGTCGCCCAGGCTGGAGCGCAGTGGCGCGATCTCGACTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCGCGCCACCATGCCCGGCTAATTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTGTCAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCGACAATAGATGAGGTTTCT	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	3/22			chr1	TogoVar
PLEKHG4B_chr5_87168_194966	141130	C C	CGCACACC others(312): Show CGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACAC CCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTGCACACCCCACAA CCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCCCCACCCCCTCCC CTGCACACCCCCCCCTGCACACCCCCACCCACTCCCCTGCACACCCCACC CCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGCACACCCCACCCC CTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCATCCCCTCCCCTG CACACCCCACCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0014 a0014	a0014c0065 a0014c0065	a0014c0065t0038 a0014c0065t0038	a0014c0065t0038g0166 a0014c0065t0038g0166	1	210	0.0048	319	c.147 others(336): Show c.1477+423_1477+424insACAACCTCCCCCTGCACACCCCACCCCC TCCCCTGCACACCCCACAACCTCCCCCTGCACACCCCACCCCCTCCCCTG CACACCCCACAACCTCCCCCTGCATACCCCACAACCTCCCCTGCACACCC CCACCCCCTCCCCTGCACACCCCCCCCTGCACACCCCCACCCACTCCCCT GCACACCCCACCCCCTCCCCTGCACACCCCCACCCCCTCCCCACACACGC ACACCCCACCCCCTCCCCGCACACCCCCACCCCCTCCCCGCACACCCCCA TCCCCTCCCCTGCACACCCCACCCCCTCCCCTGCACACCCC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHN1_chr1_961482_980865	976843	C C	CCAACCCC others(312): Show CCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCC TCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAA CCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCC GCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCC GGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTC CCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGA ACCGCCTCCCGCTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0010 a0010	a0010c0037 a0010c0037	a0010c0037t0004 a0010c0037t0004	a0010c0037t0004g0096 a0010c0037t0004g0096	1	422	0.0024	319	c.22 others(330): Show c.2268_*2269insCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCA ACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCC CGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCC CGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCT CCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCACCAACCCCGGG AACCGCCTCCCGCTCCCCCCACCAACCCCGGGAACCGCCTCCCGCTCCCC CCACCAACCCCGGGAACCGCCTCCCGCTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		979		chr1	TogoVar
PLPPR1_chr9_101023727_101330135	101285287	T T	TAAGATGT others(312): Show TAAGATGTAGTCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCC GTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0089 a0001c0002t0013g0089	1	203	0.0049	319	c.253 others(334): Show c.253-802_253-801insTAATCCCAGCACTTTGGGAGGCCGAGGCGG GCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAA CCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAGATGTAGTCCCTG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PLXDC2_chr10_19811432_20294856	19916320	A A	ATTTTTTT others(312): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCTGTAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0137 a0001c0001t0127g0137	1	180	0.0056	319	c.113 others(338): Show c.113-85447_113-85446insTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCACCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTGTATTTTTTTTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PPAT_chr4_56388362_56440615	56392004	T T	TTTTTTTT others(312): Show TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCAGGTATAAAGTTCTTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00544.hp1 others(25): Show HG00099.hp1 HG00323.hp1 HG00544.hp1 HG01069.hp1 HG01070.hp1 HG01516.hp2 HG02040.hp2 HG02293.hp2 HG03834.hp1 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18985.hp2 NA18992.hp1 NA18998.hp1 NA19001.hp2 NA19009.hp1 NA19011.hp1 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19088.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0005 a0001c0003t0028 a0001c0003t0029 others(1): Show a0001c0003t0005 a0001c0003t0028 a0001c0003t0029 a0001c0006t0005	a0001c0003t0005g0003 a0001c0003t0005g0012 a0001c0003t0005g0029 others(19): Show a0001c0003t0005g0003 a0001c0003t0005g0012 a0001c0003t0005g0029 a0001c0003t0005g0193 a0001c0003t0005g0196 a0001c0003t0005g0197 a0001c0003t0005g0204 a0001c0003t0005g0205 a0001c0003t0005g0206 a0001c0003t0005g0207 a0001c0003t0005g0209 a0001c0003t0005g0210 a0001c0003t0005g0212 a0001c0003t0005g0213 a0001c0003t0005g0216 a0001c0003t0005g0217 a0001c0003t0005g0218 a0001c0003t0005g0219 a0001c0003t0005g0223 a0001c0003t0028g0214 a0001c0003t0029g0199 a0001c0006t0005g0215	28	384	0.0729	319	c.33 others(330): Show c.3347_*3348insTTAAGAACTTTATACCTGGCCGGGCGCGGTGGCT CACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	PPAT	ENSG00000128059.8	transcript	ENST00000264220.6	protein_coding		1357		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75861614	G G	GTTTTTTT others(312): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCAGTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02145.hp1 HG01123.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0172 a0001c0001t0001g0116 a0001c0001t0001g0172	2	270	0.0074	319	c.200 others(336): Show c.2009-695_2009-694insAAAAAACTGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding	16/16			chr4	TogoVar

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