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
NOX1_chrX_100838324_100879359	100853333	T T	TTTCTTTC others(96): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTTCTTCCTTCCTTCCTTCCTTGCTTTCTTCCTTG CGTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01258.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG01258.hp1 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0022 a0001c0001t0001g0147 a0001c0001t0001g0148	4	293	0.0137	103	c.805 others(120): Show c.805-2009_805-2008insGACGCAAGGAAGAAAGCAAGGAAGGAAG GAAGGAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAA	NOX1	ENSG00000007952.18	transcript	ENST00000372966.8	protein_coding	7/12			chrX	TogoVar
NPIPA8_chr16_18312919_18341736	18341412	C C	CGGGATGA others(96): Show CGGGATGAGGATGGGAATTGGGGGAGCGGGATGAGGATGGGAATTGGGGG AGGGGGATAAGGATGGGAATTGGGGGAGGGGATAAGGATGGGAATTGGGG GAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0033 a0002c0005t0006g0033	1	31	0.0323	103	c.-51 others(114): Show c.-5106_-5105insCCTCCCCCAATTCCCATCCTTATCCCCTCCCCCA ATTCCCATCCTTATCCCCCTCCCCCAATTCCCATCCTCATCCCGCTCCCC CAATTCCCATCCTCATCCC	NPIPA8	ENSG00000214940.9	transcript	ENST00000525596.6	protein_coding		4677		chr16	TogoVar
NRCAM_chr7_108142649_108461436	108299114	A A	AAAAAAAA others(96): Show AAAAAAAAGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAG AGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0035 a0002c0008t0003g0035	1	35	0.0286	103	c.-10 others(124): Show c.-107+13550_-107+13551insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTCTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTCTTTTTTT	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	3/32			chr7	TogoVar
NSMCE2_chr8_125086860_125372120	125218360	A A	AGTACCTA others(96): Show AGTACCTATTGCCATACTAGTCTTTGCCGCCTGCGAAGCAGCGGTGGGCC TAGCCCTACTAGTCTCAATCTCCAACACATATGGCCTAGACTACGTACAT AACC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	242	0.0041	103	c.418 others(122): Show c.418+36104_418+36105insGTACCTATTGCCATACTAGTCTTTGC CGCCTGCGAAGCAGCGGTGGGCCTAGCCCTACTAGTCTCAATCTCCAACA CATATGGCCTAGACTACGTACATAACC	NSMCE2	ENSG00000156831.8	transcript	ENST00000287437.8	protein_coding	5/7			chr8	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(96): Show AAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01928.hp2 HG01993.hp1 others(2): Show HG00621.hp1 HG01928.hp2 HG01993.hp1 NA18988.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0007 a0001c0001t0001 a0001c0001t0007 a0001c0002t0007	a0001c0001t0001g0036 a0001c0001t0001g0146 a0001c0001t0001g0163 others(2): Show a0001c0001t0001g0036 a0001c0001t0001g0146 a0001c0001t0001g0163 a0001c0001t0007g0072 a0001c0002t0007g0094	5	52	0.0962	103	c.217 others(124): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAGAAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAAGAAAGAGAGAAAG	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NTRK2_chr9_84664729_85032054	85004039	A A	AAGAAAGA others(96): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAA AGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAA AGAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0083 a0001c0001t0007g0083	1	48	0.0208	103	c.217 others(124): Show c.2173-16161_2173-16160insAAAGAAAGAAAGAAAGAAAGAAAA GAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAAGAAAGAGAGAAAG	NTRK2	ENSG00000148053.18	transcript	ENST00000277120.8	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
NUP205_chr7_135552917_135653753	135570788	T T	TAATATAT others(96): Show TAATATATATTATATTAATATTATTAATTATATTAATATATATTATATTA ATATATATTAATTATATTAATATATATTATATTAATATATATTAATTATA TTAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01891.hp2 HG02109.hp1 others(13): Show HG01496.hp1 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 NA19030.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0020 a0001c0001 a0001c0009 a0001c0020	a0001c0001t0001 a0001c0009t0001 a0001c0020t0001 a0001c0001t0001 a0001c0009t0001 a0001c0020t0001	a0001c0001t0001g0003 a0001c0001t0001g0098 a0001c0001t0001g0099 others(12): Show a0001c0001t0001g0003 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0009t0001g0102 a0001c0009t0001g0111 a0001c0009t0001g0112 a0001c0009t0001g0114 a0001c0020t0001g0118	16	123	0.1301	103	c.29- others(116): Show c.29-317_29-316insAATATATATTATATTAATATTATTAATTATAT TAATATATATTATATTAATATATATTAATTATATTAATATATATTATATT AATATATATTAATTATATTAA	NUP205	ENSG00000155561.15	transcript	ENST00000285968.11	protein_coding	1/42			chr7	TogoVar
NXN_chr17_794310_984776	948872	C C	CCTCTCCC others(96): Show CCTCTCCCCCCGGCTCCTCCTCCTCTCCCCCTCCGTCCTCCTCTCTCCCC CCTGCCTCCTCCTCTCCCCCCCGGCCTCTCCTCCTCTCCCCCCTGCCTCC TCCT	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0052 a0001c0001t0023g0052	1	239	0.0042	103	c.360 others(122): Show c.360+30446_360+30447insAGGAGGAGGCAGGGGGGAGAGGAGGA GAGGCCGGGGGGGAGAGGAGGAGGCAGGGGGGAGAGAGGAGGACGGAGGG GGAGAGGAGGAGGAGCCGGGGGGAGAG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OBI1_chr13_78609289_78664155	78659296	A A	AATGAATG others(96): Show AATGAATGAATGAATGAATGAATGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	240	0.0042	103	c.-17 others(112): Show c.-177_-176insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCATTCA TTCATTCATTCATTCAT	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		142		chr13	TogoVar
OBI1_chr13_78609289_78664155	78659304	A A	AGAAAGAA others(96): Show AGAAAGAAAGAAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	188	0.0053	103	c.-18 others(112): Show c.-185_-184insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTCTTTTCTTTCTTTC	OBI1	ENSG00000152193.8	transcript	ENST00000282003.7	protein_coding		150		chr13	TogoVar
OCLN_chr5_69487790_69563104	69515539	C C	CCCCCCCC others(96): Show CCCCCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGG GGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGGGGGGG CTGA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	27	0.0370	103	c.891 others(120): Show c.891+1438_891+1439insCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCT GGCCGGGGGGGGGCTGACCCCCCCC	OCLN	ENSG00000197822.12	transcript	ENST00000396442.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
ODF3L2_chr19_458361_479983	465769	G G	GTGGGTGG others(96): Show GTGGGTGGGTGGATAGCTGGACAGATGGGTAGGTGGGTGGATGGATGAGT GGGTGGGTGGATGGTGGATGGATGTGTGGATAGATGGATGGATGGGTGGG TGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02723.hp2 others(4): Show HG02257.hp2 HG02280.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 NA19240.hp1	a0005 a0011 a0005 a0011	a0005c0008 a0011c0022 a0005c0008 a0011c0022	a0005c0008t0002 a0011c0022t0002 a0005c0008t0002 a0011c0022t0002	a0005c0008t0002g0006 a0005c0008t0002g0062 a0011c0022t0002g0063 a0005c0008t0002g0006 a0005c0008t0002g0062 a0011c0022t0002g0063	7	322	0.0217	103	c.350 others(120): Show c.350-1508_350-1406dupTCCACCCACCCATCCATCCATCTATCCA CACATCCATCCACCATCCACCCACCCACTCATCCATCCACCCACCTACCC ATCTGTCCAGCTATCCACCCACCCA	ODF3L2	ENSG00000181781.10	transcript	ENST00000315489.5	protein_coding	3/3			chr19	TogoVar
OPRL1_chr20_64075082_64105633	64094191	G G	GGGGGGCA others(96): Show GGGGGGCAGTGTGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGGGG GCAGTGTGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCA GTGT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03453.hp1 HG02622.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	2	62	0.0323	103	c.233 others(120): Show c.233+1265_233+1266insCAGTGTGTGGGTCAGTGTGGGGGCAGTG TGGGGGGCAGTGTGGGGGGCAGTGTGGGGGCAGTGTGTGGGTCAGTGTGG GGGCAGTGTGGGGGCAGTGTGGGGG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OPTN_chr10_13095163_13143308	13115437	T T	TATATATA others(96): Show TATATATAATATATTCTATATTATATAATATAGAATATATATAATATATT CTATATTATATAATATAGAATATATATAATATATTCTATATTATATAATA TAGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02738.hp1 HG01099.hp2 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0214 a0001c0001t0001g0189 a0001c0001t0001g0214	2	416	0.0048	103	c.553 others(118): Show c.553-741_553-740insTTATATAATATAGAATATATAATATATTCT ATATTATATAATATAGAATATATATAATATATTCTATATTATATAATATA GAATATATATAATATATTCTATA	OPTN	ENSG00000123240.17	transcript	ENST00000378747.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
OR1F1_chr16_3183204_3211556	3207165	G G	GGAGGGGA others(96): Show GGAGGGGAAGGGAGGGGAGGGAGGGGAGGGGAGGAGAGGGGAGGGGAGGG AAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGAGGGGGAGGGGAGGTG AGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0276 a0001c0001t0041g0276	1	170	0.0059	103	c.19 others(114): Show c.1980_*1981insGAGGGGAAGGGAGGGGAGGGAGGGGAGGGGAGGA GAGGGGAGGGGAGGGAAATGGAGGAGAGGGGAGGGGAGGGAAATGGAGGA GGGGGAGGGGAGGTGAGGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding		610		chr16	TogoVar
OR2T12_chr1_248285139_248308424	248306539	G G	GCCCTGAG others(96): Show GCCCTGAGGACTGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAG CCCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAGGACTGG AACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0011 a0005c0004t0011	a0005c0004t0011g0017 a0005c0004t0011g0017	1	322	0.0031	103	c.-33 others(114): Show c.-3384_-3383insGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGGG CGGCTCCAGTCCTCAGGGGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAG GCGGCTCCAGTCCTCAGGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3116		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306558	C C	CCTGAGGA others(96): Show CCTGAGGACTGGAACCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGAGC CGCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCGCCCTGAGGACAGGA GCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01975.hp1 HG01934.hp2 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0121 a0001c0001t0001g0108 a0001c0001t0001g0121	2	403	0.0050	103	c.-34 others(114): Show c.-3403_-3402insCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTCAG GGGGTTCCAGTCCTCAGGCGGCTCCTGTCCTCAGGGCGGCTCCAGTCCTC AGGGGGTTCCAGTCCTCAG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3135		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306678	C C	CCCTGAGG others(96): Show CCCTGAGGACAGGAGCCGCCTGAGGACTGGAGCCGCCTGAGGACTGGAAC CCCCTGAGGACTGGAGCCGCCCTGAGGACTGGAGCCGCCTGAGGACTGGA GCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01952.hp2 HG02027.hp1 others(5): Show HG00140.hp1 HG01952.hp2 HG02027.hp1 NA18950.hp1 NA18956.hp2 NA18962.hp2 NA18975.hp2 NA19075.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0034 a0002c0002t0002 a0002c0002t0034	a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0034g0076 a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0034g0076	8	398	0.0201	103	c.-35 others(114): Show c.-3523_-3522insCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG GCGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCA GGCGGCTCCTGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3255		chr1	TogoVar
OSBPL10_chr3_31655825_31986262	31947877	G G	GACACCTT others(96): Show GACACCTTCTTCCCAGCACATCCATCAGCCAATCTGGTTGCTTCACATGA AAAGAGTGGGTACAGGAGTTAAGGTTGCAGTGAGCTATGATTGCACCACT ACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	184	0.0054	103	c.281 others(122): Show c.281+33021_281+33022insATGTAGTGGTGCAATCATAGCTCACT GCAACCTTAACTCCTGTACCCACTCTTTTCATGTGAAGCAACCAGATTGG CTGATGGATGTGCTGGGAAGAAGGTGT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965651	T T	TATTATAT others(96): Show TATTATATAATATATTATATAAATTATATATTATATAATATATTATATAA ATTATATATTATATAATATTATATAAATTATATATTATATAATATATTAT ATAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0168 a0001c0009t0005g0168	1	161	0.0062	103	c.281 others(122): Show c.281+15247_281+15248insTTATATAATATATTATATAATATATA ATTTATATAATATTATATAATATATAATTTATATAATATATTATATAATA TATAATTTATATAATATATTATATAAT	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSTF1_chr9_75083514_75152265	75139056	T T	TTCTTTCT others(96): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTTCTTTCTTTCTTTTC TTTC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0078 a0001c0001t0013g0078	1	348	0.0029	103	c.487 others(120): Show c.487+1441_487+1442insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTT TCTTTTCTTTCTTTCTTTTCTTTCT	OSTF1	ENSG00000134996.12	transcript	ENST00000346234.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAIP2B_chr2_71177738_71232103	71203360	T T	TAATTATT others(96): Show TAATTATTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGTTCCACAAATATTTATTGAGCACTCCATGAACCAGACTATTCATA AGGC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02155.hp2 HG01952.hp1 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0225 a0001c0001t0001g0069 a0001c0001t0001g0225	2	362	0.0055	103	c.-11 others(118): Show c.-11-761_-11-760insGCCTTATGAATAGTCTGGTTCATGGAGTGC TCAATAAATATTTGTGGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGAAATAATT	PAIP2B	ENSG00000124374.9	transcript	ENST00000244221.9	protein_coding	1/3			chr2	TogoVar
PANX1_chr11_94123841_94186968	94137866	C C	CTATCTTG others(96): Show CTATCTTGGTCTGTTTTCCCCCCAGGATAGATATATATATATATATATAT ATATATATATATATATATATATATATATATATATACAGTAACTTTTAAAA AGTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	108	0.0093	103	c.181 others(120): Show c.181+8374_181+8375insATCTTGGTCTGTTTTCCCCCCAGGATAG ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATACAGTAACTTTTAAAAAGTTT	PANX1	ENSG00000110218.9	transcript	ENST00000227638.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAPPA_chr9_116148791_116407321	116374149	G G	GTGGTGTT others(96): Show GTGGTGTTGGTGGTGGTGTTGATGATGATGATGGTGGTGGTGATGATGGT GGTGGTAGTGGTGGTGCTATGATGATGATGATAAAAAGAAGATGGTGCAG ATGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0040 a0002c0009t0040	a0002c0009t0040g0099 a0002c0009t0040g0099	1	232	0.0043	103	c.460 others(122): Show c.4606-3423_4606-3422insGTTGGTGGTGGTGTTGATGATGATGA TGGTGGTGGTGATGATGGTGGTGGTAGTGGTGGTGCTATGATGATGATGA TAAAAAGAAGATGGTGCAGATGATGGT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	19/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PARP16_chr15_65253099_65291883	65269200	C C	CTCTCTCT others(96): Show CTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCCCCTCTCT CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTCT CTCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0153 a0002c0004t0001g0154 a0002c0004t0001g0153 a0002c0004t0001g0154	2	311	0.0064	103	c.312 others(120): Show c.312+1734_312+1735insAGAGAGAGAGAGAGAGAGAGAGAGAGGG AGGGAGGGAGGGAGGGAGGGAGGGAGAGAGAGGGGAGAGAGAGAGAGAGA GGAGAGAGAGAGAGAGAGAGAGAGA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PCDH15_chr10_53797771_54806231	54332245	T T	TATATAAT others(96): Show TATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTACATATTATTATA TATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0029 a0029	a0029c0026 a0029c0026	a0029c0026t0008 a0029c0026t0008	a0029c0026t0008g0082 a0029c0026t0008g0082	1	73	0.0137	103	c.595 others(120): Show c.595-2540_595-2539insTATATATAATAATATGTAATATAGATTA TATTATATTATATATAATAATATATAATATAGATTATATTATATTATATA TAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332245	T T	TATATAAT others(96): Show TATATAATCTATATTATATATTATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATATAATCTATATTACATATTATTATA TATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0022 a0022	a0022c0032 a0022c0032	a0022c0032t0001 a0022c0032t0001	a0022c0032t0001g0074 a0022c0032t0001g0074	1	68	0.0147	103	c.595 others(120): Show c.595-2540_595-2539insTATATATAATAATATGTAATATAGATTA TATTATATTATATATAATAATATATAATATAGATTATATTATATTATATA TAATAATATATAATATAGATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PCLO_chr7_82749012_83167884	82999857	T T	TTATATAT others(96): Show TTATATATAAAATATATGTAATATTATATATAAAATATAATATGTAACAT TATATATAAAATATAATATGTAACATTATATATAAAATATAATATGTAAT ATTA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0029 a0029	a0029c0052 a0029c0052	a0029c0052t0006 a0029c0052t0006	a0029c0052t0006g0112 a0029c0052t0006g0112	1	38	0.0263	103	c.330 others(124): Show c.3301-33371_3301-33370insTAATATTACATATTATATTTTATA TATAATGTTACATATTATATTTTATATATAATGTTACATATTATATTTTA TATATAATATTACATATATTTTATATATA	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCSK6_chr15_101298933_101494707	101311636	T T	TCCCTCAC others(96): Show TCCCTCACAGCCCACCGCATCATCACACCCTCACAGCTCACCCCATCATC ACACCCTCACAGCCCACCCCATCATCACCCCTCACAGCCCACCCCATCGT CACA	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20129.hp1 HG03579.hp1 NA20129.hp1	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0069 a0005c0014t0001g0123 a0005c0014t0001g0069 a0005c0014t0001g0123	2	262	0.0076	103	c.269 others(122): Show c.2699+1739_2699+1740insTGTGACGATGGGGTGGGCTGTGAGGG GTGATGATGGGGTGGGCTGTGAGGGTGTGATGATGGGGTGAGCTGTGAGG GTGTGATGATGCGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDXK_chr21_43714129_43767299	43741165	G G	GGGGGGCT others(96): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGC TGGC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0298 a0001c0001t0001g0298	1	280	0.0036	103	c.143 others(118): Show c.143-497_143-496insCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGG GGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(96): Show GGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGC TCGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0238 a0001c0003t0008g0238	1	308	0.0032	103	c.143 others(118): Show c.143-474_143-473insCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGGCTCGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741359	C C	CGCGGGGG others(96): Show CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0121 a0001c0001t0004g0121	1	335	0.0030	103	c.143 others(118): Show c.143-298_143-297insCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTGGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TCTCTCTC others(96): Show TCTCTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCTGTCTCTCTCTCTCTCTC TCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	14	0.0714	103	c.48 others(114): Show c.4863_*4864insGAGAGAGAGAGAGAGAGAGACAGAGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGGGAGAGAGGGGGAGA GAGAGAGAGAGAGAGAGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(96): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCCTCTC TCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 NA18966.hp2 HG00597.hp1 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0034 a0001c0001t0001g0004 a0001c0001t0001g0034	2	15	0.1333	103	c.48 others(114): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGAGGGG GAGGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGG AGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(96): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCTCCCTCTCCCTCTC TCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	14	0.0714	103	c.48 others(114): Show c.4863_*4864insGAGAGAGAGGGAGAGGGAGAGGGAGGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGG AGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PDZK1IP1_chr1_47178582_47195036	47179107	T T	TTCTCTCT others(96): Show TTCTCTCTCTCTCTCTCTCTCCCCCTCTCTCCCTCTCTCTCTCTCTCTCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCTCCCTCTCCTCTCTC TCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	14	0.0714	103	c.48 others(114): Show c.4863_*4864insGAGAGAGAGAGGAGAGGGAGAGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGAGAGAGAGAGAGAGAGGGAGAGAGGGGG AGAGAGAGAGAGAGAGAGA	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding		4474		chr1	TogoVar
PGPEP1L_chr15_98963229_99012792	99010748	G G	GCAAAAAA others(96): Show GCAAAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATAAAATAAAATAAATAAAATAAAATTCCTGGTAGTTTTCTGTGATAT ATCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG02056.hp2 HG02083.hp1 others(8): Show HG00438.hp1 HG02056.hp2 HG02083.hp1 HG03669.hp2 HG03688.hp2 HG04204.hp1 NA18747.hp1 NA18972.hp1 NA18990.hp2 NA19005.hp1 NA19009.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0037	a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0281 others(8): Show a0001c0001t0002g0269 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0289 a0001c0001t0002g0300 a0001c0001t0002g0303 a0001c0001t0002g0311 a0001c0001t0005g0372 a0002c0002t0001g0172 a0002c0002t0002g0309 a0002c0002t0037g0365	11	21	0.5238	103	c.-37 others(114): Show c.-3760_-3759insTGATATATCACAGAAAACTACCAGGAATTTTATT TTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTTTG	PGPEP1L	ENSG00000183571.11	transcript	ENST00000535714.2	protein_coding		2957		chr15	TogoVar
PID1_chr2_229018973_229276287	229184790	A A	ATATATCC others(96): Show ATATATCCCGTATATATATCCCGTATATATATATATCCCGTATATATATA TCCCGTATATATATATATCCCGTATATATATATCCCGTATATATATATAT CCCG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	246	0.0041	103	c.31- others(120): Show c.31-28827_31-28826insCGGGATATATATATATACGGGATATATA TATACGGGATATATATATATACGGGATATATATATACGGGATATATATAT ATACGGGATATATATACGGGATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIDD1_chr11_794184_810231	800459	A A	ACAGGGGT others(96): Show ACAGGGGTGGGCTGAGCAAGGAGGGCTCGGGGAGGACGGTAAGGCTCCCC CTCCAGGACAGGGAGGGCCTATCAGCATCCACGCAGTCAGGGCAATCCAG GGGG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02698.hp2 HG03471.hp1 HG02572.hp2 HG02698.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0051 a0001c0001t0001g0022 a0001c0001t0001g0051	3	406	0.0074	103	c.204 others(116): Show c.2042-9_2042-8insCCCCCTGGATTGCCCTGACTGCGTGGATGCTG ATAGGCCCTCCCTGTCCTGGAGGGGGAGCCTTACCGTCCTCCCCGAGCCC TCCTTGCTCAGCCCACCCCTG	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding	12/15			chr11	TogoVar
PIDD1_chr11_794184_810231	800486	C C	CGGGGAGG others(96): Show CGGGGAGGACGGTAAGGCTCCCCCTCCAGGACAGGGAGGGCCTATCAGCA TCCACGCAGTCAGGGCAATCCAGGGGACAGGGGTGGGCTGAGCAAGGAGG GCAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18942.hp1 NA19074.hp1 HG00438.hp1 NA18942.hp1 NA19074.hp1	a0007 a0007	a0007c0014 a0007c0030 a0007c0014 a0007c0030	a0007c0014t0001 a0007c0030t0001 a0007c0014t0001 a0007c0030t0001	a0007c0014t0001g0025 a0007c0030t0001g0059 a0007c0014t0001g0025 a0007c0030t0001g0059	3	255	0.0118	103	c.204 others(118): Show c.2042-36_2042-35insATGCCCTCCTTGCTCAGCCCACCCCTGTCC CCTGGATTGCCCTGACTGCGTGGATGCTGATAGGCCCTCCCTGTCCTGGA GGGGGAGCCTTACCGTCCTCCCC	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding	12/15			chr11	TogoVar
PIDD1_chr11_794184_810231	800486	C C	CGGGGAGG others(96): Show CGGGGAGGACGGTAAGGCTCCCCCTCCAGGACAGGGAGGGCCTATCAGCA TCCACGCAGTCAGGGCAATCCAGGGGGCAGGGGTGGGCTGAGCAAGGAGG GCAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02071.hp1 others(8): Show HG01070.hp2 HG01071.hp1 HG02071.hp1 HG02615.hp2 HG02683.hp1 HG02976.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG06807.hp2 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0032 a0001c0001 a0002c0032	a0001c0001t0001 a0002c0032t0001 a0001c0001t0001 a0002c0032t0001	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0047 others(1): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0047 a0002c0032t0001g0064	11	263	0.0418	103	c.204 others(118): Show c.2042-36_2042-35insATGCCCTCCTTGCTCAGCCCACCCCTGCCC CCTGGATTGCCCTGACTGCGTGGATGCTGATAGGCCCTCCCTGTCCTGGA GGGGGAGCCTTACCGTCCTCCCC	PIDD1	ENSG00000177595.19	transcript	ENST00000347755.10	protein_coding	12/15			chr11	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(96): Show AGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAA AGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02615.hp2 others(13): Show HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0008 a0001c0006t0050 a0001c0001t0006 a0001c0001t0008 a0001c0006t0050	a0001c0001t0006g0315 a0001c0001t0006g0316 a0001c0001t0006g0317 others(13): Show a0001c0001t0006g0315 a0001c0001t0006g0316 a0001c0001t0006g0317 a0001c0001t0006g0323 a0001c0001t0006g0324 a0001c0001t0006g0325 a0001c0001t0006g0326 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0006g0329 a0001c0001t0006g0330 a0001c0001t0008g0319 a0001c0001t0008g0320 a0001c0001t0008g0331 a0001c0001t0008g0332 a0001c0006t0050g0318	16	115	0.1391	103	c.-32 others(114): Show c.-3277_-3276insGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAAGGAGGGAAAGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(96): Show AGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGAAGGGAAGGGAA GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAAA GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	100	0.0100	103	c.-32 others(114): Show c.-3277_-3276insGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGA AGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAAGGAGGGAAAGGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(96): Show AGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAA AGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00558.hp2 HG00621.hp1 others(83): Show HG00323.hp1 HG00558.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp2 HG02809.hp2 HG03225.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18747.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18988.hp1 NA18991.hp1 NA18994.hp1 NA18999.hp1 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(14): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0003t0004	a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 others(83): Show a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0009g0142 a0001c0001t0009g0150 a0001c0001t0009g0163 a0001c0001t0009g0164 a0001c0001t0009g0165 a0001c0001t0010g0005 a0001c0001t0010g0136 a0001c0001t0010g0147 a0001c0001t0010g0148 a0001c0001t0010g0189 a0001c0001t0010g0210 a0001c0001t0012g0139 a0001c0001t0012g0172 a0001c0001t0012g0186 a0001c0001t0012g0187 a0001c0001t0012g0188 a0001c0001t0015g0155 a0001c0001t0015g0162 a0001c0001t0015g0177 a0001c0001t0015g0178 a0001c0001t0019g0144 a0001c0001t0019g0145 a0001c0001t0019g0192 a0001c0001t0020g0002 a0001c0001t0020g0013 a0001c0001t0020g0014 a0001c0001t0025g0160 a0001c0001t0025g0161 a0001c0001t0026g0146 a0001c0001t0027g0005 a0001c0001t0027g0149 a0001c0001t0034g0010 a0001c0001t0035g0154 a0001c0001t0036g0002 a0001c0001t0038g0207 a0001c0001t0039g0158 a0001c0001t0040g0202 a0001c0003t0004g0311	86	185	0.4649	103	c.-32 others(114): Show c.-3277_-3276insGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAAGGAGGGAAAGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PIK3C3_chr18_41950234_42092830	41952015	A A	AGGGAAGG others(96): Show AGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGAAGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAAGGAGGGAA AGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02970.hp1 NA20752.hp2 HG02896.hp2 HG02970.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0001 a0001c0001t0051	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0051g0104 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0051g0104	3	102	0.0294	103	c.-32 others(114): Show c.-3277_-3276insGGGAAGGGAGGGGAAGGGAAGGGAAGGGAAGGGA AGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAAGGAGGGAAAGGG	PIK3C3	ENSG00000078142.14	transcript	ENST00000262039.9	protein_coding		3218		chr18	TogoVar
PIM1_chr6_37165152_37180428	37179406	T T	TATATATA others(96): Show TATATATAATATATATTATATATAATATATATTATATATATTATATATTA TATATAATATATATTATATATAATATATATTTTATATAATATATATTATA TAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00597.hp2 others(24): Show HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp1 HG00673.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp1 NA18944.hp1 NA18957.hp1 NA18965.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA19002.hp2 NA19065.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023 a0001c0006t0004	a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0010g0004 others(2): Show a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0010g0004 a0001c0001t0023g0004 a0001c0006t0004g0004	27	50	0.5400	103	c.53 others(114): Show c.5315_*5316insATATATAATATATATTATATATAATATATATTAT ATATATTATATATTATATATAATATATATTATATATAATATATATTTTAT ATAATATATATTATATAAA	PIM1	ENSG00000137193.14	transcript	ENST00000373509.6	protein_coding		3979		chr6	TogoVar
PIR_chrX_15379799_15498333	15393716	A A	ATCTGTCA others(96): Show ATCTGTCACTGTCTCCCATCAACCCCGGATGGGACCATCTAGTTGCAGGA AAACAAATTCAGGGCTCCTACTGATTCTACATTATGGTGAGTTATAGAAT TATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	269	0.0037	103	c.694 others(120): Show c.694-3568_694-3466dupAATAATTCTATAACTCACCATAATGTAG AATCAGTAGGAGCCCTGAATTTGTTTTCCTGCAACTAGATGGTCCCATCC GGGGTTGATGGGAGACAGTGACAGA	PIR	ENSG00000087842.11	transcript	ENST00000380420.10	protein_coding	8/9			chrX	TogoVar
PKD2L1_chr10_100283149_100335228	100314975	G G	GGGAAGGG others(96): Show GGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0226 a0004c0005t0001g0226	1	277	0.0036	103	c.349 others(122): Show c.349+14235_349+14236insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314979	G G	GGGAAGGG others(96): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	282	0.0035	103	c.349 others(122): Show c.349+14231_349+14232insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKD2L1_chr10_100283149_100335228	100314983	G G	GGGAAGGG others(96): Show GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 HG02486.hp1 HG03471.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0006c0008t0001 a0001c0001t0001 a0006c0008t0001	a0001c0001t0001g0288 a0006c0008t0001g0053 a0001c0001t0001g0288 a0006c0008t0001g0053	2	216	0.0093	103	c.349 others(122): Show c.349+14227_349+14228insTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar

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