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
PAM16_chr16_4335251_4356321	4344478	C C	CTGTGAGA others(299): Show CTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGG GGTTCTGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCCGTGAGAGG AGGGGACTGTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCTGTGA GAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGGTTCT GTGAGAGGAGGGGGTTCCGTGAGAGGAGGGGACTGTGTGAGAGGAGGGGG TTCTGTGAGAGGAGGGGGTTCTGTGAGAGGAGGGGGTTCCGTGAGAGGAG GTGACTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp2 HG01515.hp1 others(27): Show HG00597.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG02027.hp2 HG02451.hp1 HG02559.hp1 HG03130.hp1 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03710.hp1 HG04228.hp1 NA18906.hp1 NA18943.hp2 NA18944.hp2 NA18969.hp1 NA18977.hp2 NA18980.hp2 NA19009.hp1 NA19080.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0045 a0001c0001t0001g0189 a0001c0001t0001g0206 others(23): Show a0001c0001t0001g0045 a0001c0001t0001g0189 a0001c0001t0001g0206 a0002c0002t0001g0019 a0002c0002t0001g0044 a0002c0002t0001g0069 a0002c0002t0001g0185 a0002c0002t0001g0186 a0002c0002t0001g0187 a0002c0002t0001g0188 a0002c0002t0001g0190 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0199 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0204 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0216 a0002c0002t0001g0232 a0002c0002t0001g0235 a0002c0002t0001g0236	30	354	0.0847	306	c.4-1 others(319): Show c.4-1188_4-1187insCAGTCACCTCCTCTCACGGAACCCCCTCCTCT CACAGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTC CTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCC CCTCCTCTCACGGAACCCCCTCCTCTCACAGAACCCCCTCCTCTCACAGA ACCCCCTCCTCTCACACAGTCCCCTCCTCTCACGGAACCCCCTCCTCTCA CACAGTCCCCTCCTCTCACAGAACCCCCTCCTCTCACACAGTCCCCTCCT CTCACAGAACCCCCTCCTCTCACA	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAPLN_chr14_73232506_73279623	73263931	C C	CCCTCTGA others(299): Show CCCTCTGACAGGTGTGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTG TGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCTA CCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTG TGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCC GACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGG TGTGTGTGACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCC CCGACCT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0008 a0008	a0008c0045 a0008c0045	a0008c0045t0023 a0008c0045t0023	a0008c0045t0023g0191 a0008c0045t0023g0191	1	394	0.0025	306	c.286 others(323): Show c.2861+178_2861+179insTACCCCCTCTGACAGGTGTGTGTGACGG CCCCCCGACCTCCTCTGACAGGTGTGTGTGACGGCCCCCCTACCCCCTCT GACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTGAC GGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTCCT CTGACAGGTGTGTGTGACGGCCCCCCGACCTCCTCTGACAGGTGTGTGTG ACGGCCCCCCTACCCCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCTC CTCTGACAGGTGTGTGTGACGGCCCCCC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARK7_chr1_7956711_7990505	7990498	T T	TCACCACC others(299): Show TCACCACCACCACCACCATCACCACCACCATCACCATCACCACCACCATC ACCATCACCACCAGCATCACCTTCACCACCACCACCACCATCACCACCAC CATCACCATCACCACCACCATCACCTTCACCACCACCACCACCATCACCA CCACCATCACCTTCACCACCACCACCACCATCACCACCAGCATCACCCTC ACCATCACCCTCACCACCACCATCACCACACTCACCACCACCATCACCAT CACCACCAGCATCACCCTCACCACCACCATCACCATCACCACCACCATCA CCTTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	149	0.0067	306	c.54 others(317): Show c.5444_*5445insCACCACCACCACCACCATCACCACCACCATCACC ATCACCACCACCATCACCATCACCACCAGCATCACCTTCACCACCACCAC CACCATCACCACCACCATCACCATCACCACCACCATCACCTTCACCACCA CCACCACCATCACCACCACCATCACCTTCACCACCACCACCACCATCACC ACCAGCATCACCCTCACCATCACCCTCACCACCACCATCACCACACTCAC CACCACCATCACCATCACCACCAGCATCACCCTCACCACCACCATCACCA TCACCACCACCATCACCTTCAC	PARK7	ENSG00000116288.13	transcript	ENST00000338639.10	protein_coding		4994		chr1	TogoVar
PARL_chr3_183824271_183889880	183870210	A A	AGAGGTTG others(299): Show AGAGGTTGCAGTGAGCCGAGACTGTGCCACTGCATTCCAGCCTGGGAGAC AAAGCGAGACTCCATCTCAAAAAAAAAAAAAAAAAAAGTCTAGGCTGGGC ACAGCGACTCACACCTGTAATCCCAGCATTTTGGGAGGCCGAGGCAGGCA GATCACCTAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACACTGGGAAAC CCTGACTCTACTAAGAATACAAAAATTAGCTGGGCGTGATGGTGTACACC TGTAATCTCAGCTACTCGCGAGGCTGACGCATGAGAAGTGCTTGAACCCG GGAAGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00597.hp2 others(44): Show HG00423.hp2 HG00438.hp2 HG00597.hp2 HG02015.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp2 HG02155.hp2 HG02523.hp1 HG02602.hp2 HG03491.hp1 HG03492.hp2 HG03688.hp1 HG03927.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp2 NA18981.hp1 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp2 NA19011.hp1 NA19054.hp1 NA19067.hp1 NA19075.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0194 others(42): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0194 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0298 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0329 a0002c0002t0001g0229 a0002c0002t0001g0232	47	85	0.5529	306	c.126 others(323): Show c.126-2151_126-2150insCACTTCCCGGGTTCAAGCACTTCTCATG CGTCAGCCTCGCGAGTAGCTGAGATTACAGGTGTACACCATCACGCCCAG CTAATTTTTGTATTCTTAGTAGAGTCAGGGTTTCCCAGTGTTGGCCAGAC TGGTCTTGAACTCCTGACCTTAGGTGATCTGCCTGCCTCGGCCTCCCAAA ATGCTGGGATTACAGGTGTGAGTCGCTGTGCCCAGCCTAGACTTTTTTTT TTTTTTTTTTTGAGATGGAGTCTCGCTTTGTCTCCCAGGCTGGAATGCAG TGGCACAGTCTCGGCTCACTGCAACCTC	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PCMT1_chr6_149744741_149816419	149803478	C C	CATAATCT others(299): Show CATAATCTGAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGA	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02293.hp2 HG01975.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0246 a0001c0001t0001g0231 a0001c0001t0001g0246	2	331	0.0060	306	c.37 others(323): Show c.37+1078_*37+1079insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAATAATCTGAATATTTT	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PDCD6_chr5_266646_319974	318218	C C	CCCCACCC others(299): Show CCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTC CCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCA CCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATC CTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAA TCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCC CCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTTTTA CCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0293 a0002c0003t0001g0293	1	313	0.0032	306	c.37 others(317): Show c.3703_*3704insCCCACCCTCCATCTCCCCCAACCCTGCACCTCCC CCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCT CCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCT GCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACC CTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTC ACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACC TCTCCCCATCTTTTACCTCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3245		chr5	TogoVar
PDE4DIP_chr1_148839428_149038016	149023587	C C	CATATATG others(299): Show CATATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTG TGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATGTA TATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTA CATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATA TATGTACATGTGTATGTGTGCACATATATATGTACATGTGTATGTGTGCA CATATATATGTACATGTATGTGTGCACATATATATGTACATGTATATGTG TGCACAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0014 a0009c0016t0014	a0009c0016t0014g0020 a0009c0016t0014g0020	1	4	0.2500	306	c.628 others(323): Show c.6284-667_6284-666insCACATATATATGTACATGTGTATGTGTG CACATATATATGTACATGTGTATGTGTGCACATATATATGTACATGTATG TGTGCACATATATATGTACATGTATATGTGTGCACATATATATGTACATG TATATGTGTGCACATATATATGTACATGTATATGTGTGCACATATATATG TACATGTATATGTGTGCACATATATATGTACATGTATATGTGTGCACATA TATATGTACATGTATATGTGTGCACATATATATGTACATGTATATGTGTG CACATATATATGTACATGTATATGTGTG	PDE4DIP	ENSG00000178104.22	transcript	ENST00000695795.1	protein_coding	40/46		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGGC others(299): Show GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGG CTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0135 a0001c0001t0049g0135	1	308	0.0032	306	c.143 others(321): Show c.143-462_143-461insCTCGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGG CTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD8_chr10_117272274_117380440	117324985	T T	TAAGAATC others(299): Show TAAGAATCTGTTCTCCTGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0109 a0001c0002t0006g0109	1	320	0.0031	306	c.996 others(323): Show c.996-6012_996-6011insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCAGGAGAACAGATTCTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	2/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41429793	T T	TCTTATTT others(299): Show TCTTATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT TGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAA GCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACACGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCAC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0017 a0003c0005t0001g0017	1	165	0.0061	306	c.844 others(325): Show c.844-76653_844-76652insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTTGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACACGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCTTATTTTTT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEX10_chr1_2398974_2417564	2401341	T T	TCTCCCTC others(299): Show TCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTTCCCTCCCTCCTCCTCCCTCCTTCCTCCCTC CTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCT TCCTCCTCCTCCCTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCT CCCCCCTCCTCCCTTCTTCCTCCCTCCTCCTCCCTTCTTCCTCCTCCTCC CTCCTCCCCCTCCTCCCTCCCCCTCCTCCCTCCCTCCTCCCCCCTCCTCC CTCCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	149	0.0067	306	c.44 others(317): Show c.4424_*4425insGAAGGAGGGAGGAGGGGGGAGGAGGGAGGGAGGA GGGGGAGGGAGGAGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAG GGAGGAAGAAGGGAGGAGGGGGGAGGAGGGAGGGAGGAGGGGGAGGGAGG AGGGGGAGGAGGGAGGAGGAGGAAGAAGGGAGGAGGAGGGAGGAAGAAGG GAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAGGGA GGGAAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGAGGGAGGGAGGAG GGAGGGAGGAGGGAGGAGGGAG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2632		chr1	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGAGGGGAGGAGATGGGA GGGGGAAGAGGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAA GAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0062	1	29	0.0345	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGAAGAGGGGA GGGGAGGAGATGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAG GGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGG GAAGAGGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	29	0.0345	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	29	0.0345	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAG GGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGG GAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAG GGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGG AAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0031 a0001c0001t0005g0031	1	29	0.0345	306	c.53 others(317): Show c.5377_*5378insGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGG AGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAG GGGAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGG GAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(299): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGG AGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGG AAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	29	0.0345	306	c.53 others(317): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAT AGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455724	G G	GGAGGGGG others(299): Show GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAATAGGGGAGGGGAGAG GAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGA GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGG AAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	29	0.0345	306	c.53 others(317): Show c.5377_*5378insGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGGAA TAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGA GGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGG GGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGG AAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGG GGAAGAGGGGATGGGAGGGGAA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4256		chr17	TogoVar
PIMREG_chr17_6439455_6456469	6455759	G G	GAGGAGAT others(299): Show GAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGA GGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGGAA GAGGGGATGGGAGGGGAAGAGGGGATGGGAGGGGAAGAGGGGAGGGGAGG GGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0021 a0001c0001t0016g0021	1	309	0.0032	306	c.54 others(317): Show c.5412_*5413insAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGG AGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAG GGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGG GGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAG GAGGGAAGGGGGGAAGAGGGGATGGGAGGGGAAGAGGGGATGGGAGGGGA AGAGGGGAGGGGAGGGGAGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4291		chr17	TogoVar
PIR_chrX_15379799_15498333	15401360	G G	GTAAACCT others(299): Show GTAAACCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCG ATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGAT TACAGGA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0026 a0004c0006t0003g0026	1	244	0.0041	306	c.611 others(323): Show c.611-3830_611-3829insTCCTGTAATCCCAGCACTTTGGGAGGCC GAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAA GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAG TCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAAGGTTTA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	7/9			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6455724	G G	GGAGGGGA others(299): Show GGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGG GGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGG AAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGG AGGGGAA	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0053 a0001c0006t0053	a0001c0006t0053g0013 a0001c0006t0053g0013	1	18	0.0556	306	c.262 others(321): Show c.2620-82_2620-81insTTCCCCTCCCATCCCCTCTTCCCCCTTCCC TCCTCTCCCCTCCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCCT CTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCT TCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTC CCCCTCCCCTCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCC CCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCTT CCCCCTCCCCTCTTCCCCCTCCCCTC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455759	G G	GAGGAGAT others(299): Show GAGGAGATGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGA GGGGAGAGGAGGGAAGAGGGAAGAGGGGAGGGGAGGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGGAGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGGGGAGGGGAGAGGAGGGAAGGGGGGAA GAGGGGATGGGAGGGGAAGAGGGGATGGGAGGGGAAGAGGGGAGGGGAGG GGAGGGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0207 a0001c0001t0075g0207	1	216	0.0046	306	c.262 others(323): Show c.2620-117_2620-116insTCCCTCCCCTCCCCTCCCCTCTTCCCCT CCCATCCCCTCTTCCCCTCCCATCCCCTCTTCCCCCCTTCCCTCCTCTCC CCTCCCCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCTCC CCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCC CTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCCTCCCC TCCCCTCTTCCCTCTTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTC CCTTCCCCTCTTCCCCCTCCCATCTCCT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLCB1_chr20_8127266_8889900	8689956	T T	TGTCTCCA others(299): Show TGTCTCCAAATTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCGCTCACTGCA AGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCC ACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCG CCCGGCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp2 NA20300.hp1 HG03139.hp2 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0005 a0001c0006 a0001c0007 a0001c0005 a0001c0006 a0001c0007	a0001c0005t0002 a0001c0006t0020 a0001c0007t0001 a0001c0005t0002 a0001c0006t0020 a0001c0007t0001	a0001c0005t0002g0049 a0001c0006t0020g0074 a0001c0007t0001g0087 a0001c0005t0002g0049 a0001c0006t0020g0074 a0001c0007t0001g0087	3	55	0.0545	306	c.100 others(325): Show c.1009+4892_1009+4893insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGTTCTGTCGCCCAGGCGGGAGTGCTGTGGCGCGATCTCCG CTCACTGCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACC TCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCGTCTCCAAATTTCT	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	10/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLD4_chr14_104919879_104938236	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	207	0.0048	306	c.76 others(315): Show c.766_*767insCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGC TGAGTGAGGGGAGGGCGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGA GGGCGGGAGGGGACCTGCGA	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		495		chr14	TogoVar
PLD4_chr14_104919879_104938236	104933730	G G	GCTGAGGG others(299): Show GCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGCTGAGTGAGGGGAG GGTGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCG GGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGGCTGAGGGGACGGG GAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGGGCGGGAGGGGACC CGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCGGGGCTGAGTGAGG GGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGAGGGCGGGAGGGGA CCTGCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG02109.hp2 HG00733.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0008 a0001c0001t0001g0027	2	208	0.0096	306	c.76 others(315): Show c.766_*767insCTGAGGGGACAGGGAGGGCGGGAGGGGACCCGCGGC TGAGTGAGGGGAGGGTGGGAGGGGACCCGCGGCTGAGGGGACGGGGAGGG CGGGAGGGGAGCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGAGCGGGG CTGAGGGGACGGGGAGGGCGGGAGGGGACCCGGGGCTGAGTGAGGGGAGG GCGGGAGGGGACCCGCGTCTGAGGGGACCGGGAGGGCGGGAGGCGACCCG GGGCTGAGTGAGGGGAGGGTGGGAGGGGAGCGGGGCTGAGGGGACCGGGA GGGCGGGAGGGGACCTGCGA	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		495		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	164894	A A	ACACTAAT others(299): Show ACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCG GAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGAC GGGGCGGCGCTCACACTAATGCTGTGACGGGGCGGGGCTCACAGTAATGC TCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGGCGGAGCTCACAC TAATGCTCTGACGGGGCGGAGCTCACACTAATGCTGTGACGGGGCGGGGC TCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGATGGGG CGGAGCT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0004 a0004	a0004c0041 a0004c0041	a0004c0041t0001 a0004c0041t0001	a0004c0041t0001g0077 a0004c0041t0001g0077	1	184	0.0054	306	c.347 others(325): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC ACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGCGCTCACACTAATGCTGTGACGG GGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTC TGATGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTA ATGCTGTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGAGCTC ACACTAATGCTCTGATGGGGCGGAGCTCAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PMM2_chr16_8792839_8854325	8823641	C C	CAGGTTAG others(299): Show CAGGTTAGACTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAGTCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01109.hp2 HG01106.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0005 a0001c0001t0019g0005	2	406	0.0049	306	c.639 others(325): Show c.639+10550_639+10551insTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAGTCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCAGGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGAGGTTAGACTTTTTT	PMM2	ENSG00000140650.13	transcript	ENST00000268261.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(299): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGG CCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCA GGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCC CACAGGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01069.hp2 HG00735.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0088 a0001c0001t0021g0089 a0001c0001t0021g0088 a0001c0001t0021g0089	2	112	0.0179	306	c.388 others(325): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAG GATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGC AAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(299): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGG CCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCA GGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCC CACAGGA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0010 a0001c0004t0010	a0001c0004t0010g0034 a0001c0004t0010g0034	1	111	0.0090	306	c.388 others(325): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGG GGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGC AAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3215369	G G	GTCCAGGA others(299): Show GTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCA AGGCCTACTGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGG CCTCCAGGAGGGTCATGGGTCCTGGGGACAGGCAAGGCCCACGGGGTCCA GGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCC CACAGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0017 a0001c0002t0050g0017	1	111	0.0090	306	c.388 others(325): Show c.388-28662_388-28661insCTGGGGTCCAGGAGAACAGGGCCTCC AGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACGGGGTCCAGGAGA ACAGGGCCTCCAGGAGGGTCATGGGTCCCGGGGACAGGCAAGGCCCACAG GATCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCCTGGGGACAGGC AAGGCCCACGGGGTCCAGGAGAACAGGGCCTCCAGGAGGGTCATGGGTCC CGGGGACAGGCAAGGCCCACAGGATCCAGGAGAACAGGGCCTCCAGGAGG GTCATGGGTCCCGGGGACAGGCAAGGCCTA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKAG2_chr7_151551127_151882115	151874474	G G	GATGTATA others(299): Show GATGTATATGTATATGTATATGATGTATATGTATATGTATATGATGTATA TGTATAAGTATATGTATATGATGTATATGTATATGATGTATATGTATGTA TATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTATA TGATGTATATGTATATGTATATGATGTATATGTATATATGTATATGTATA TGATGTATATGTATATGATGTATATGTATATGTATATGATGTATATGTAT ATGTATATGATGTATATGTATATGTATATGATGTATATGTATATGTATAT GATGTAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0245 a0001c0001t0030g0245	1	194	0.0052	306	c.114 others(323): Show c.114+2032_114+2033insATACATCATATACATATACATATACATC ATATACATATACATATACATCATATACATATACATATACATCATATACAT ATACATATACATCATATACATATACATCATATACATATACATATATACAT ATACATCATATACATATACATATACATCATATACATATACATCATATACA TATACATATACATCATATACATATACATATACATACATATACATCATATA CATATACATCATATACATATACTTATACATATACATCATATACATATACA TATACATCATATACATATACATATACAT	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CAGCGATA others(299): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCGTCAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0282 a0003c0008t0001g0282	1	166	0.0060	306	c.335 others(325): Show c.335-12764_335-12763insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCT GTAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGG TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2122498	C C	CAGCGATA others(299): Show CAGCGATAGTTAGCGTCATGGTGGTGGTTAGGGTCACGGCTGTAGTTAGG GTCATGGTGGTAGTTAGGGTCACGGTGGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCACGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTA GCGTCAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02004.hp1 HG00738.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0107 a0001c0006t0001g0131 a0001c0001t0001g0107 a0001c0006t0001g0131	2	167	0.0120	306	c.335 others(325): Show c.335-12764_335-12763insAGCGATAGTTAGCGTCATGGTGGTGG TTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCAT GGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCACGGTGGTAGTTAGGA TCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTT AGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGT AGTTAGGGTCACAGCGATAGTTAGCGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17			chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2123797	G G	GTCATGGT others(299): Show GTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGT TAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTG TAGTTAGGGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGTTCATGGTG GTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCAT GGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGG TCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTT AGGGTCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	163	0.0061	306	c.335 others(325): Show c.335-11464_335-11463insCATGGTGGTAGTTAGGGTCACGGCTA TAGTTGGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTTAGGTTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGAT AGTTAGCATCATGGTGGTAGTTAGGGTCAT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAA others(299): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTAGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0141 a0001c0003t0001g0141	1	169	0.0059	306	c.335 others(325): Show c.335-10972_335-10971insGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTAGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124289	A A	AGGGTCAA others(299): Show AGGGTCAAGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTC ATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAG TTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCT ATAGTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0274 a0001c0003t0001g0274	1	169	0.0059	306	c.335 others(325): Show c.335-10972_335-10971insGGTCAAGGTGGTAGTTAGGATCATGG CTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTC ATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAG GGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAG TTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTG GTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCTGTAGTTAGGGTCAT GGTGGTAGTTGGGGTCACGGCTATAGTTGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124296	C C	CGGTGGTA others(299): Show CGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGG GTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGT TAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGG TAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGGGTCATG GTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGT CATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACGGCTATAGTTG GGGTCAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0255 a0001c0003t0001g0255	1	99	0.0101	306	c.335 others(325): Show c.335-10953_335-10952insATCATGGCTGTAGTTAGGGTCATGGT GGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGG GTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGCTGTAGTTAGGGTCATGGTGGTAGTTGGGGTCACG GCTATAGTTGGGGTCATGGTGGTAGTTAGG	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRPSAP2_chr17_18853131_18936287	18888479	A A	ACCCCCCA others(299): Show ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCGCGGAC GGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGG GGCTGAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0379 a0001c0004t0005g0379	1	390	0.0026	306	c.529 others(323): Show c.529-1337_529-1336insACCTCCCTCCCGGACGGGGCGGCTGGCC AGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCGCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTC CCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGG CTGGCCGGGCAGGGGGGCTGACCCCCCC	PRPSAP2	ENSG00000141127.15	transcript	ENST00000268835.7	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
PTP4A3_chr8_141387021_141437454	141429976	C C	CCCGCTGT others(299): Show CCCGCTGTAAGGACCAGATGGCGGGGACAGGGTGAGCACACAGTCCGGGT CCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGGG TCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCCGG GTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCCG GGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGTACAGCC CAGGTTT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	172	0.0058	306	c.405 others(321): Show c.405-935_405-934insATGGCGGGGACAGGGTGAGCACACAGTCCG GGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTCC GGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAGCGCACAGTC CGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAGT CCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGCACAG TCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTGAGCGTACA GCCCAGGTTTCCGCTGTAAGGACCAG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430064	G G	GCACAGTC others(299): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGT GAGCGTACAGCCCAGGTTTCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCACACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA19065.hp1 HG03834.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0282 a0001c0001t0004g0269 a0001c0001t0001g0282 a0001c0001t0004g0269	2	158	0.0127	306	c.405 others(321): Show c.405-812_405-811insCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACC CGGTGGCGGGGACAGGGTGAGCGTACAGCCCAGGTTTCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGACAGGGTGAGCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTP4A3_chr8_141387021_141437454	141430064	G G	GCACAGTC others(299): Show GCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGAG CGCACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGGTGA GCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGTG AGCGCACAGTCCGGGTCCCCGCTGTAAGGACCCGGTGGCGGGGACAGGGT GAGCGTACAGTCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGGG TGAGCGTACAGCCCGGGTCCCCGCTGTAAGGACCAGGTGGCGGGGACAGG GTGAGCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02280.hp2 HG02886.hp2 others(3): Show HG02055.hp1 HG02280.hp2 HG02886.hp2 HG03486.hp2 NA20129.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0026 a0001c0001t0001 a0001c0001t0026	a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0039 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0272 a0001c0001t0026g0052	6	162	0.0370	306	c.405 others(321): Show c.405-812_405-811insCACAGTCCGGGTCCCCGCTGTAAGGACCAG GTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACCC GGTGGCGGGGACAGGGTGAGCGCACAGTCCGGGTCCCCGCTGTAAGGACC CGGTGGCGGGGACAGGGTGAGCGTACAGTCCGGGTCCCCGCTGTAAGGAC CAGGTGGCGGGGACAGGGTGAGCGTACAGCCCGGGTCCCCGCTGTAAGGA CCAGGTGGCGGGGACAGGGTGAGCACACAGTCCGGGTCCCCGCTGTAAGG ACCAGGTGGCGGGGACAGGGTGAGCG	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
PTPN2_chr18_12787152_12889237	12887804	T T	TTAGATTA others(299): Show TTAGATTAATAAGTGAATTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGTGGTGGCGGGCGGCAGGAGAATGGCGTGAACCCGGGAA GCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGC CTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0003 a0001c0001t0017g0003	1	365	0.0027	306	c.-36 others(317): Show c.-3664_-3663insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAA TCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCCAATTCACTTATTAATCTA	PTPN2	ENSG00000175354.20	transcript	ENST00000309660.10	protein_coding		3568		chr18	TogoVar
RAB7B_chr1_205971740_206008395	205985737	C C	CCCCACCA others(299): Show CCCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCA CCAGGCCCACCATCCCCACCATCCCCACCAGGCCCACCATCCCCACCAGG CCCACCATCCCCACCAGGCCCACCAGGCCCACCATCCCCATCAGGCCCAC CAGGCCCACCATCCCCACCAGGCCCACCATCCCCACCAGGCCCACCAGGC CCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCAGGCCCACC AGGCCCACCATCCCCATCAGGCCCACCAGGCCCACCATCCCCACCATCCC CACCAGG	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	119	0.0084	306	c.397 others(319): Show c.397-73_397-72insCCTGGTGGGGATGGTGGGGATGGTGGGCCTGG TGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGC CTGGTGGGCCTGATGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGT GGGCCTGGTGGGGATGGTGGGCCTGGTGGGCCTGATGGGGATGGTGGGCC TGGTGGGCCTGGTGGGGATGGTGGGCCTGGTGGGGATGGTGGGCCTGGTG GGGATGGTGGGGATGGTGGGCCTGGTGGGCCTGGTGGGGATGGTGGGCCT GGTGGGCCTGGTGGGGATGGTGGG	RAB7B	ENSG00000276600.5	transcript	ENST00000617070.5	protein_coding	4/5			chr1	TogoVar
RAD51B_chr14_67814779_68483093	67982730	T T	TCTATGTT others(299): Show TCTATGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACCGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGACCTCGTGATC CGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCAGC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	75	0.0133	306	c.756 others(325): Show c.756+95540_756+95541insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTAGCGGGATCTCGGCTCACCGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCTTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCAGCCTATGTTTTTTTTT	RAD51B	ENSG00000182185.19	transcript	ENST00000471583.6	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(299): Show TGGGGTGGGGACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGGGCCCG GAGTGGGGATGGGGCCCGGGGTGGGGATGGGGACCGGGGTGGGGACGGGG CCCGGGGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAAT GGGGCCC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0260 a0001c0001t0001g0260	1	222	0.0045	306	c.-83 others(323): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCC CATCCCCACCCCGGGCCCCATCCCCACTCCGGGCCCCATCCCCACCCCGG GCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCACC CCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCC CACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCA TCCCCACCCCGGGCCCCGTCCCCACCCC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422602	T T	TGGGGTGG others(299): Show TGGGGTGGGGATGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGACGG GGCCCGGGGTGGGGATGGGGACTGGGGTGGGGACGGGGCCCGGGGTGGGG ACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCGACTGGGGT GGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGGGCCCG GAGTGGGGATGGGGCCCGGGGTGGGGATGGGGACCGGGGTGGGGACGGGG CCCGGGGTGGGGATGGCGACTGGGGTGGGGATGGCCACTGGGGTGGGAAT GGGGCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0261 a0007c0007t0002g0261	1	222	0.0045	306	c.-83 others(323): Show c.-83-2873_-83-2872insGGGCCCCATTCCCACCCCAGTGGCCATC CCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCC CATCCCCACCCCGGGCCCCATCCCCACTCCGGGCCCCATCCCCACCCCGG GCCCCATTCCCACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCACC CCGGGCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCGTCCC CACCCCAGTCCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCA TCCCCACCCCGGGCCCCATCCCCACCCC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBBP8NL_chr20_62405237_62432539	62422641	G G	GGTGGGGA others(299): Show GGTGGGGACGGGGCCCGGGGTGGGGATGGGGACTGGGGTGGGGATGGGGC CCGGGGTGGGGACGGGGCCCGGGGTGGGGACGGGGCCCGGGGTGGGGATG GCGACTGGGGTGGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGG GATGGGGCCCGGAGTGGGGATGGGGCCCGGGGTGGGGATGGGGACCGGGG TGGGGACGGGGCCCGGGGTGGGGATGGGGCCCGGGGTGGGGATGGCCACT GGGGTGGGGATGGCCACTGGGGTGGGAATGGGGCCCGGGGTGGGGATGGG GCCCGGA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0015 a0007c0007t0015	a0007c0007t0015g0119 a0007c0007t0015g0119	1	333	0.0030	306	c.-83 others(323): Show c.-83-2912_-83-2911insTCCGGGCCCCATCCCCACCCCGGGCCCC ATTCCCACCCCAGTGGCCATCCCCACCCCAGTGGCCATCCCCACCCCGGG CCCCATCCCCACCCCGGGCCCCGTCCCCACCCCGGTCCCCATCCCCACCC CGGGCCCCATCCCCACTCCGGGCCCCATCCCCACCCCGGGCCCCATTCCC ACCCCAGTGGCCATCCCCACCCCAGTCGCCATCCCCACCCCGGGCCCCGT CCCCACCCCGGGCCCCGTCCCCACCCCGGGCCCCATCCCCACCCCAGTCC CCATCCCCACCCCGGGCCCCGTCCCCAC	RBBP8NL	ENSG00000130701.4	transcript	ENST00000252998.2	protein_coding	1/13			chr20	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(299): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	51	0.0196	306	c.28- others(323): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGACGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_6014024_7718340	7491380	T T	TAAGATTC others(299): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01099.hp2 others(3): Show HG00140.hp1 HG00280.hp2 HG01099.hp2 HG02735.hp1 HG02735.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0025 a0001c0001t0002g0007 a0001c0001t0002g0016 others(3): Show a0001c0001t0001g0025 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0004g0057 a0001c0001t0031g0056 a0001c0001t0032g0068	6	56	0.1071	306	c.28- others(323): Show c.28-26754_28-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000550418.6	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBFOX1_chr16_7327845_7718340	7491380	T T	TAAGATTC others(299): Show TAAGATTCAGTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAC GGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCAGTG GCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGC GTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGCCACAGCAC TCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAAAAAAAAAA AAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01069.hp1 others(40): Show HG00140.hp1 HG00280.hp2 HG01069.hp1 HG01099.hp1 HG01256.hp1 HG01257.hp2 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp2 HG02004.hp2 HG02040.hp1 HG02129.hp1 HG02129.hp2 HG02300.hp1 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03710.hp1 HG03834.hp2 HG03942.hp2 HG04184.hp2 HG04199.hp2 NA18951.hp2 NA18959.hp2 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18983.hp1 NA18999.hp1 NA19009.hp1 NA19010.hp1 NA19077.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0030 a0001c0001t0037 a0001c0001t0041 a0001c0001t0045 a0001c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0050 others(40): Show a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0050 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0125 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0002g0052 a0001c0001t0002g0167 a0001c0001t0002g0171 a0001c0001t0002g0176 a0001c0001t0004g0141 a0001c0001t0004g0187 a0001c0001t0006g0122 a0001c0001t0006g0170 a0001c0001t0007g0115 a0001c0001t0007g0130 a0001c0001t0011g0198 a0001c0001t0016g0175 a0001c0001t0016g0177 a0001c0001t0018g0121 a0001c0001t0024g0084 a0001c0001t0025g0140 a0001c0001t0030g0136 a0001c0001t0037g0048 a0001c0001t0041g0163 a0001c0001t0045g0139 a0001c0004t0001g0185	43	201	0.2139	306	c.88- others(323): Show c.88-26754_88-26753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGAAGGCGGAGCTTGCAGTGAGCGGAGATCGCGC CACAGCACTCCCGCCTGGGCGACAGAACGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAGATTCAGTCTG	RBFOX1	ENSG00000078328.23	transcript	ENST00000355637.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RBMS2_chr12_56516820_56601193	56558297	C C	CGGCCTCC others(299): Show CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCCT TTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTTGTTCTGTCACCCA AGCTGGAGTGCAATGATGCAATCTTGTCTCACTGCACCTTTGCCTCCCGG GTTCAAGCGATTCTTCTGCCTCAGCCTCCCGAATAGGTGGGATTACAGGC ATGTGGCACCATGCCCGGCTAATTTTTGTATTTTTAATAGAGATGGGGTT TTGCCATATTGGCCAGGCTGGTCTTGAACTCCTGACATCAAGTGAACCAC CCGCCTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01106.hp1 HG01106.hp2 others(12): Show HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01361.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02300.hp2 HG03098.hp1 HG03688.hp2 HG04184.hp2 HG04204.hp2 HG04228.hp1 NA19000.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0015 a0001c0001t0027 a0001c0001t0029 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0014 a0001c0002t0037	a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0070 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0070 a0001c0001t0002g0050 a0001c0001t0002g0079 a0001c0001t0003g0149 a0001c0001t0015g0082 a0001c0001t0027g0027 a0001c0001t0029g0040 a0001c0002t0001g0278 a0001c0002t0002g0255 a0001c0002t0003g0200 a0001c0002t0003g0250 a0001c0002t0014g0246 a0001c0002t0037g0262	15	47	0.3191	306	c.67- others(321): Show c.67-4083_67-4082insTGCGCCTGGCCTTTTTTTTTTTTTTTTTTT TTTTTTGAGACAGAGTTTTGTTCTGTCACCCAAGCTGGAGTGCAATGATG CAATCTTGTCTCACTGCACCTTTGCCTCCCGGGTTCAAGCGATTCTTCTG CCTCAGCCTCCCGAATAGGTGGGATTACAGGCATGTGGCACCATGCCCGG CTAATTTTTGTATTTTTAATAGAGATGGGGTTTTGCCATATTGGCCAGGC TGGTCTTGAACTCCTGACATCAAGTGAACCACCCGCCTTGGCCTCCCAAA GTGCTGGGATTACAGGCGTGAGCCAC	RBMS2	ENSG00000076067.14	transcript	ENST00000262031.10	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr12	TogoVar

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