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
MUSK_chr9_110663791_110811558	110701652	ATTTATTT others(103): Show ATTTATTTTATTTATTTTATTTTATTTTTTTTACTTTACTTTATTTTATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0161 a0001c0001t0009g0161	1	260	0.0038	-110	c.628 others(17): Show c.628+4188_628+4297del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MUSK_chr9_110663791_110811558	110701675	ATTTTTTT others(103): Show ATTTTTTTTACTTTACTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTA TTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	311	0.0032	-110	c.628 others(17): Show c.628+4213_628+4322del	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
MYO3B_chr2_170173147_170660167	170649189	TATATATT others(103): Show TATATATTATATATAAAATAATATATAATATATTATATATAAAATAATAT ATATTATATATAAAATAATATATAATATATTATATATAAAATAATATATA TTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0021 a0021	a0021c0074 a0021c0074	a0021c0074t0008 a0021c0074t0008	a0021c0074t0008g0113 a0021c0074t0008g0113	1	144	0.0069	-110	c.373 others(19): Show c.3734-2435_3734-2326del	MYO3B	ENSG00000071909.19	transcript	ENST00000408978.9	protein_coding	32/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEU4_chr2_241804193_241822413	241805563	CCCCTCAG others(103): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	297	0.0034	-110	c.-37 others(11): Show c.-3714_-3605del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3629		chr2	TogoVar
NEU4_chr2_241804193_241822413	241805676	CCCCTCAG others(103): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0010 a0001c0004t0001 a0001c0004t0010	a0001c0004t0001g0019 a0001c0004t0010g0102 a0001c0004t0001g0019 a0001c0004t0010g0102	2	307	0.0065	-110	c.-36 others(11): Show c.-3601_-3492del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3516		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806231	CCCCTCAG others(103): Show CCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGAACCTCC GCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	309	0.0032	-110	c.-30 others(11): Show c.-3046_-2937del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2961		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806918	TCCCCCCT others(103): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCCCCCTCAG CCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGC AGGCCACCCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02735.hp1 HG03130.hp1 others(3): Show HG00639.hp2 HG02735.hp1 HG03130.hp1 NA18982.hp1 NA19070.hp2 NA19080.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0001 a0001c0004 a0002c0003 others(2): Show a0001c0001 a0001c0004 a0002c0003 a0004c0018 a0010c0010	a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0001 a0002c0003t0002 a0004c0018t0001 a0010c0010t0001	a0001c0001t0001g0037 a0001c0001t0003g0186 a0001c0004t0001g0012 others(3): Show a0001c0001t0001g0037 a0001c0001t0003g0186 a0001c0004t0001g0012 a0002c0003t0002g0131 a0004c0018t0001g0022 a0010c0010t0001g0001	6	288	0.0208	-110	c.-23 others(11): Show c.-2359_-2250del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2274		chr2	TogoVar
NKAIN2_chr6_123798865_124830640	124515724	TCTGTCGC others(103): Show TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGG	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01109.hp1 others(60): Show HG00741.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18964.hp1 NA18964.hp2 NA19240.hp1 NA19240.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0011 a0001c0002t0013 a0001c0002t0014 a0001c0003t0003 a0002c0004t0017	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(60): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0066 a0001c0001t0003g0001 a0001c0001t0003g0012 a0001c0001t0003g0024 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0004g0059 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0031 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0007g0046 a0001c0001t0008g0051 a0001c0001t0010g0053 a0001c0001t0012g0057 a0001c0001t0015g0023 a0001c0001t0016g0010 a0001c0001t0019g0021 a0001c0001t0020g0005 a0001c0001t0021g0027 a0001c0001t0022g0048 a0001c0002t0001g0008 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0003g0029 a0001c0002t0004g0045 a0001c0002t0004g0063 a0001c0002t0005g0020 a0001c0002t0007g0047 a0001c0002t0009g0050 a0001c0002t0011g0064 a0001c0002t0013g0058 a0001c0002t0014g0022 a0001c0003t0003g0037 a0002c0004t0017g0013	63	66	0.9545	-110	c.274 others(21): Show c.274-142457_274-142348del	NKAIN2	ENSG00000188580.16	transcript	ENST00000368417.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
NLRP8_chr19_55942832_55993629	55993486	CCTCTCCC others(103): Show CCTCTCCCCCCTCCCCTCCTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCC CCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCC TCCCCCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0261 a0002c0003t0002g0261	1	306	0.0033	-110	c.55 others(11): Show c.5574_*5683del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4858		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993504	CTCTCCCC others(103): Show CTCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCTCTCCCCTCCTCTCCTCCCCCCTCCTCCTCTCA ACCTCCCCTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA19079.hp1 NA18999.hp2 NA19079.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0132 a0001c0002t0012g0116 a0001c0002t0003g0132 a0001c0002t0012g0116	2	348	0.0057	-110	c.55 others(11): Show c.5592_*5701del	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4876		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535783	AGGGGAGC others(103): Show AGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGTGG AGGGGGGATCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGGA GTGGGTGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02970.hp2 HG02647.hp1 HG02970.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0021 a0001c0001 a0007c0021	a0001c0001t0013 a0007c0021t0004 a0001c0001t0013 a0007c0021t0004	a0001c0001t0013g0033 a0007c0021t0004g0032 a0001c0001t0013g0033 a0007c0021t0004g0032	2	238	0.0084	-110	c.140 others(17): Show c.140+8131_140+8240del	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NPAS1_chr19_47014837_47050775	47027466	GTCTCTCT others(103): Show GTCTCTCTGCCCCTGGTCTCCCGTCTCTCTGCCCCTGGTCTCCCATCTCT CTGCCCCTGTTCTCCCTTCTCTCTGCCCCTGGTCTCCTGTCTGTCTGCCC CTGGTCTCCCT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02080.hp1 others(14): Show HG01243.hp2 HG01891.hp2 HG02080.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02965.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0007t0001 a0001c0008t0001	a0001c0001t0001g0249 a0001c0002t0001g0111 a0001c0002t0001g0145 others(14): Show a0001c0001t0001g0249 a0001c0002t0001g0111 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0165 a0001c0002t0001g0187 a0001c0002t0001g0212 a0001c0002t0001g0307 a0001c0002t0001g0386 a0001c0002t0004g0186 a0001c0002t0004g0392 a0001c0003t0001g0166 a0001c0003t0001g0185 a0001c0003t0001g0288 a0001c0003t0001g0334 a0001c0007t0001g0400 a0001c0008t0001g0324	17	265	0.0642	-110	c.359 others(17): Show c.359-4768_359-4659del	NPAS1	ENSG00000130751.10	transcript	ENST00000602212.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
OPCML_chr11_132409981_133537501	133518224	GGGGTGTG others(103): Show GGGGTGTGTTTGTGCTCATATGGGTGGGTGGTGTGCAGGCATGGTGTGTG GATATAAGCAAAGTATGTATGTGTGTAATGTGTATGGAAGCGTGTATAAG TGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0029 a0001c0001t0007g0029	1	68	0.0147	-110	c.61+ others(17): Show c.61+13930_61+14039del	OPCML	ENSG00000183715.15	transcript	ENST00000524381.6	protein_coding	1/7			chr11	TogoVar
P2RY12_chr3_151331843_151389753	151368614	TATTTTAT others(103): Show TATTTTATTTTATTTTATTTCATTTCATTTCATTTCATTTCATTTCATTT CATTTCATTTCATGTCATTTCATTTTATTTCATTTCATTTCATTTCATTT CATTTCATTTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0145	1	382	0.0026	-110	c.-18 others(21): Show c.-180+15968_-180+16077del	P2RY12	ENSG00000169313.10	transcript	ENST00000302632.4	protein_coding	1/2			chr3	TogoVar
PAGE1_chrX_49682447_49700984	49690015	GTGTATAT others(103): Show GTGTATATACACACATATATATGTGTATATATGTGTATATATGTGTATAT ACACACATATATATGTGTATATATGTGTATATATGTGTATATATACACAT ATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	316	0.0032	-110	c.293 others(15): Show c.293-582_293-473del	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PDE4D_chr5_58964038_59898726	59171974	TTATATAA others(103): Show TTATATAATAAATATATATTATATATATAATAAATATATATTATATATAT AATAAATATATATTATATATATAATATATATATATTATATATATAATAAA TATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp1 HG01169.hp1 others(48): Show HG00140.hp1 HG01071.hp1 HG01169.hp1 HG01169.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA18906.hp2 NA18945.hp2 NA18966.hp2 NA18983.hp2 NA19043.hp1 NA20129.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0002t0014 a0001c0004t0007 a0001c0005t0004 a0002c0003t0007	a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 others(48): Show a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0053 a0001c0001t0002g0064 a0001c0001t0003g0044 a0001c0001t0003g0072 a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0073 a0001c0001t0005g0008 a0001c0001t0005g0012 a0001c0001t0005g0050 a0001c0001t0006g0006 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0007g0033 a0001c0001t0009g0071 a0001c0001t0010g0068 a0001c0001t0011g0017 a0001c0001t0012g0054 a0001c0001t0012g0061 a0001c0001t0013g0009 a0001c0001t0016g0040 a0001c0001t0017g0002 a0001c0001t0021g0070 a0001c0001t0022g0025 a0001c0001t0023g0065 a0001c0002t0014g0028 a0001c0004t0007g0011 a0001c0005t0004g0074 a0002c0003t0007g0004	51	74	0.6892	-110	c.808 others(17): Show c.808+8511_808+8620del	PDE4D	ENSG00000113448.21	transcript	ENST00000340635.11	protein_coding	5/14			chr5	TogoVar
PDXK_chr21_43714129_43767299	43741132	CCATCCCT others(103): Show CCATCCCTGACAGTGCAGGGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA18906.hp1 HG02055.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0031 a0001c0001t0026g0195 a0001c0001t0026g0031 a0001c0001t0026g0195	2	354	0.0056	-110	c.143 others(15): Show c.143-533_143-424del	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDZD2_chr5_31634131_32115932	31849885	TATACACA others(103): Show TATACACATATATATATATACATATATATATATACATATATATATATACA CATATATATATATACATATATATATATACACATATATATATATACATATA TATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19085.hp1 NA18986.hp1 NA19085.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0045 a0003c0004t0001 a0003c0004t0045	a0003c0004t0001g0137 a0003c0004t0045g0028 a0003c0004t0001g0137 a0003c0004t0045g0028	2	205	0.0098	-110	c.476 others(19): Show c.476+50165_476+50274del	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PEDS1_chr20_50113254_50158723	50117805	GGGCAACA others(103): Show GGGCAACAAAGCGAAACTCCATCTAAAAACAAACAAACAAACAAACAAAC AAACAAACAGGATGTGTGATGCATTTGCTAGTGAAATTCTATGGCATTTA TGTGGAGTCAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02630.hp1 HG02717.hp1 others(4): Show HG01361.hp2 HG02630.hp1 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02976.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0097 a0001c0001t0012 a0001c0001t0097	a0001c0001t0012g0007 a0001c0001t0012g0140 a0001c0001t0012g0146 others(1): Show a0001c0001t0012g0007 a0001c0001t0012g0140 a0001c0001t0012g0146 a0001c0001t0097g0139	7	364	0.0192	-110	c.71 others(11): Show c.7143_*7252del	PEDS1	ENSG00000240849.11	transcript	ENST00000371652.9	protein_coding		448		chr20	TogoVar
PGC_chr6_41731711_41752397	41738155	TACATATA others(103): Show TACATATATATGCATATATATATACATATATATATGCATATATATATGCA TATATATATGCATATATATATGCATATATATATGTATATATATATGCATA TATATATATGC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp2 HG00438.hp2 others(114): Show HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02523.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp2 HG02976.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03710.hp2 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18951.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18988.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19011.hp2 NA19043.hp2 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19072.hp2 NA19077.hp2 NA19080.hp1 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0001 a0001c0001t0001 a0001c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 others(53): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0178 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0227 a0001c0007t0001g0157	117	451	0.2594	-110	c.916 others(15): Show c.916-437_916-328del	PGC	ENSG00000096088.16	transcript	ENST00000373025.7	protein_coding	7/8			chr6	TogoVar
PID1_chr2_229018973_229276287	229139005	AAGAAAGA others(103): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02602.hp1 HG03491.hp2 others(1): Show HG01168.hp2 HG02602.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0207 others(1): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0207 a0001c0001t0002g0086	4	254	0.0157	-110	c.177 others(19): Show c.177+16703_177+16812del	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	2/2			chr2	TogoVar
PIGN_chr18_62036164_62192056	62061417	CAAAAAAA others(103): Show CAAAAAAAAAAAGCAATAAAGGAGCTTGCAGTGAGCCGAGATTGTGCCAC TGCAGTCCGCATTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02293.hp2 NA18944.hp2 others(14): Show HG02165.hp2 HG02293.hp2 NA18944.hp2 NA18946.hp1 NA18951.hp1 NA18957.hp2 NA18966.hp1 NA18970.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp1 NA18994.hp1 NA19005.hp1 NA19007.hp2 NA19077.hp1 NA19081.hp2 NA19088.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0008 a0001c0020 others(1): Show a0001c0001 a0001c0008 a0001c0020 a0008c0012	a0001c0001t0001 a0001c0008t0006 a0001c0020t0023 others(1): Show a0001c0001t0001 a0001c0008t0006 a0001c0020t0023 a0008c0012t0006	a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0266 others(14): Show a0001c0001t0001g0195 a0001c0001t0001g0214 a0001c0001t0001g0266 a0001c0008t0006g0285 a0001c0008t0006g0286 a0001c0008t0006g0288 a0001c0008t0006g0289 a0001c0008t0006g0290 a0001c0008t0006g0291 a0001c0008t0006g0297 a0001c0008t0006g0300 a0001c0008t0006g0301 a0001c0008t0006g0302 a0001c0008t0006g0303 a0001c0008t0006g0304 a0001c0020t0023g0181 a0008c0012t0006g0287	17	340	0.0500	-110	c.267 others(21): Show c.2672+11146_2672+11255del	PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	30/30			chr18	TogoVar
PLD5_chr1_242077986_242529697	242393226	GTATATAT others(103): Show GTATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGT ATATATATGTGTATATATATGAGTATATATATGTGTATATATATGAGTAT ATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0183 a0001c0001t0079g0183	1	168	0.0060	-110	c.190 others(19): Show c.190-45094_190-44985del	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEC_chr8_143910153_143978529	143973783	CAGGGGCG others(103): Show CAGGGGCGGCCGCGACCTGTCTGTTCCCCGCCGGGCCGGCGACCTGCCTC CGAGACGCTCCCCTGCCCGCCCCCCACCTTGCTTCCTGCGTGCAGCTGAG AACTTTCCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0031 a0031	a0031c0172 a0031c0172	a0031c0172t0001 a0031c0172t0001	a0031c0172t0001g0183 a0031c0172t0001g0183	1	300	0.0033	-110	c.-42 others(9): Show c.-421_-312del	PLEC	ENSG00000178209.17	transcript	ENST00000356346.7	protein_coding		255		chr8	TogoVar
PLEKHA4_chr19_48832097_48873617	48834815	GGGGCTGG others(103): Show GGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCT GGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01192.hp2 NA18975.hp1 others(2): Show HG00408.hp2 HG01192.hp2 NA18975.hp1 NA18986.hp2 NA19065.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0189 a0001c0001t0001g0226 a0002c0002t0002g0064 others(2): Show a0001c0001t0001g0189 a0001c0001t0001g0226 a0002c0002t0002g0064 a0002c0002t0002g0074 a0002c0002t0002g0082	5	292	0.0171	-110	c.23 others(11): Show c.2364_*2473del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2281		chr19	TogoVar
PLEKHA4_chr19_48832097_48873617	48834964	GGCTGGGG others(103): Show GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGG ACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00639.hp2 others(25): Show HG00099.hp2 HG00438.hp2 HG00639.hp2 HG00733.hp2 HG01099.hp1 HG01106.hp1 HG01168.hp1 HG01243.hp1 HG01361.hp2 HG01943.hp1 HG02040.hp2 HG02258.hp1 HG02622.hp1 HG02717.hp2 HG02735.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG03098.hp1 HG03209.hp2 HG03453.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18964.hp1 NA18966.hp2 NA18999.hp2 NA19081.hp2	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0001 a0002c0002 a0002c0024 others(1): Show a0001c0001 a0002c0002 a0002c0024 a0015c0020	a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0012 a0002c0002t0014 a0002c0024t0002 a0015c0020t0010	a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0181 others(24): Show a0001c0001t0001g0134 a0001c0001t0001g0165 a0001c0001t0001g0181 a0002c0002t0002g0006 a0002c0002t0002g0031 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0063 a0002c0002t0002g0065 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0083 a0002c0002t0002g0099 a0002c0002t0012g0019 a0002c0002t0014g0100 a0002c0024t0002g0030 a0015c0020t0010g0094	28	295	0.0949	-110	c.22 others(11): Show c.2215_*2324del	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		2132		chr19	TogoVar
PLEKHG4B_chr5_87168_194966	165139	CGGGGCGG others(103): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTC CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0066 a0013c0066	a0013c0066t0051 a0013c0066t0051	a0013c0066t0051g0169 a0013c0066t0051g0169	1	200	0.0050	-110	c.347 others(19): Show c.3476+1592_3476+1701del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PLEKHG4B_chr5_87168_194966	166425	CGGGGCGG others(103): Show CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATG CTCTGACGGGGCGGGGCTCACAGTAATCTTCTGACGGGGCGGAGCTCACA CTAATGCTCTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01261.hp1 others(3): Show HG00639.hp1 HG01123.hp1 HG01261.hp1 HG02602.hp2 HG03831.hp1 NA18970.hp2	a0002 a0004 a0002 a0004	a0002c0003 a0002c0005 a0004c0006 others(2): Show a0002c0003 a0002c0005 a0004c0006 a0004c0043 a0004c0054	a0002c0003t0099 a0002c0003t0100 a0002c0005t0001 others(3): Show a0002c0003t0099 a0002c0003t0100 a0002c0005t0001 a0004c0006t0001 a0004c0043t0094 a0004c0054t0001	a0002c0003t0099g0129 a0002c0003t0100g0029 a0002c0005t0001g0166 others(3): Show a0002c0003t0099g0129 a0002c0003t0100g0029 a0002c0005t0001g0166 a0004c0006t0001g0048 a0004c0043t0094g0100 a0004c0054t0001g0138	6	201	0.0299	-110	c.347 others(19): Show c.3476+2878_3477-2805del	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19			chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149764956	CTACCAAC others(103): Show CTACCAACTCCCTGGGGTGGGCTTCTTCTCAAGAATAGTGCAGAGAAAGA GGGAGGGACCCTGTGAAACAGTTAAGTTAGGAGAGGGTAGTACCCAAACA CACATGTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00609.hp2 HG00738.hp1 others(11): Show HG00099.hp2 HG00609.hp2 HG00738.hp1 HG01081.hp1 HG01993.hp2 HG03942.hp2 NA18941.hp2 NA18987.hp1 NA18994.hp1 NA19007.hp1 NA19012.hp2 NA19056.hp1 NA19076.hp2 NA19080.hp2	a0001 a0002 a0017 a0001 a0002 a0017	a0001c0001 a0002c0002 a0002c0014 others(1): Show a0001c0001 a0002c0002 a0002c0014 a0017c0034	a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0005 a0002c0002t0010 a0002c0002t0025 a0002c0002t0032 a0002c0002t0067 a0002c0014t0005 a0017c0034t0013	a0001c0001t0001g0018 a0001c0001t0003g0020 a0001c0001t0003g0022 others(11): Show a0001c0001t0001g0018 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0024 a0001c0001t0003g0026 a0002c0002t0005g0016 a0002c0002t0010g0038 a0002c0002t0025g0027 a0002c0002t0025g0029 a0002c0002t0032g0041 a0002c0002t0067g0023 a0002c0014t0005g0017 a0002c0014t0005g0019 a0017c0034t0013g0021	14	318	0.0440	-110	c.78+ others(17): Show c.78+34622_78+34731del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809122	GATAGATA others(103): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT CCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02602.hp1 HG03017.hp2 others(4): Show HG00280.hp2 HG02602.hp1 HG03017.hp2 HG03491.hp1 HG03834.hp1 NA18952.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0009 others(2): Show a0001c0001 a0001c0004 a0001c0009 a0001c0022 a0003c0012	a0001c0001t0001 a0001c0001t0007 a0001c0004t0006 others(4): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0006 a0001c0004t0030 a0001c0009t0023 a0001c0022t0006 a0003c0012t0014	a0001c0001t0001g0228 a0001c0001t0007g0188 a0001c0004t0006g0210 others(4): Show a0001c0001t0001g0228 a0001c0001t0007g0188 a0001c0004t0006g0210 a0001c0004t0030g0113 a0001c0009t0023g0218 a0001c0022t0006g0097 a0003c0012t0014g0116	7	280	0.0250	-110	c.79- others(17): Show c.79-11268_79-11159del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149809179	GATAGATA others(103): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATCCATCTC TACCATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT CCATCTCTACC	G G	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0300 a0001c0001t0015g0300	1	298	0.0034	-110	c.79- others(17): Show c.79-11211_79-11102del	PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
PPIL6_chr6_109385215_109445628	109428673	TTTTTTAA others(103): Show TTTTTTAATGAAAAGACTGAAATAATATTGTGCTATCTGGCATCTAGCAA TGAACTGTTCCATCCATACTAATTATAATTAATTTGTGCCTCTCAGCTTC TATACTACAAG	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0307 a0002c0002t0003g0307	1	394	0.0025	-110	c.421 others(17): Show c.421-1627_421-1518del	PPIL6	ENSG00000185250.16	transcript	ENST00000521072.7	protein_coding	3/7			chr6	TogoVar
PPP6R2_chr22_50338327_50450090	50381256	TCACACGG others(103): Show TCACACGGGCCTCACCTCAGCACCACACGGGCCCCACCTCAGCACCACAC GGGCCCCACCTCAGCATCACACGGGCCTCACCTCAGCATCACACGGGCCC CACCTCAGCAC	T T	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	251	0.0040	-110	c.-17 others(17): Show c.-17+9117_-17+9226del	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
PRF1_chr10_70592348_70607741	70602277	GGCCAGGG others(103): Show GGCCAGGGGAATCTTCAAAGGCCCTGGGCTCATCCCAGCTAGGAGGCGGG CACAGTCATAACCCTAATCCAGTGAACTCAGCCCTCATCCTGACTCTCAT GGTATTCTGTC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	440	0.0023	-110	c.-31 others(15): Show c.-31+258_-31+367del	PRF1	ENSG00000180644.8	transcript	ENST00000441259.2	protein_coding	1/2			chr10	TogoVar
PRKCA_chr17_66297613_66815743	66562041	TAATTATA others(103): Show TAATTATATATATAATTAAATATATATAATTAAATTATATATATAATTAA ATATATATAATTAAATTATATATATAATTAAATATATATAATTAAATTAT ATATATAATTA	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0100 a0001c0001t0015g0100	1	150	0.0067	-110	c.288 others(19): Show c.288+65791_288+65900del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKCA_chr17_66297613_66815743	66562074	ATTATATA others(103): Show ATTATATATATAATTAAATATATATAATTAAATTATATATATAATTAAAT ATATATAATTAAATTATATATATAATTAAATTATATATATAATTAAATAT ATATAATTAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01928.hp2 HG02040.hp1 others(19): Show HG01099.hp2 HG01928.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02258.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03579.hp1 HG03710.hp1 NA18943.hp2 NA18950.hp1 NA18986.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0017 a0001c0001t0023 a0001c0001t0027 a0001c0001t0033 a0001c0001t0047 a0001c0001t0060 a0001c0001t0073 a0001c0001t0075 a0001c0001t0081 a0001c0001t0095 a0001c0001t0098 a0001c0001t0099 a0001c0002t0004 a0001c0002t0010 a0001c0002t0050 a0001c0002t0066 a0001c0002t0083 a0001c0003t0009	a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0005g0176 others(19): Show a0001c0001t0001g0065 a0001c0001t0002g0011 a0001c0001t0005g0176 a0001c0001t0008g0022 a0001c0001t0017g0090 a0001c0001t0023g0111 a0001c0001t0027g0133 a0001c0001t0033g0035 a0001c0001t0047g0049 a0001c0001t0060g0154 a0001c0001t0073g0010 a0001c0001t0075g0033 a0001c0001t0081g0127 a0001c0001t0095g0037 a0001c0001t0098g0149 a0001c0001t0099g0148 a0001c0002t0004g0031 a0001c0002t0010g0068 a0001c0002t0050g0099 a0001c0002t0066g0093 a0001c0002t0083g0138 a0001c0003t0009g0055	22	176	0.1250	-110	c.288 others(19): Show c.288+65801_288+65910del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
PRKN_chr6_161342417_162732766	161895465	AACCCCAG others(103): Show AACCCCAGTGAGGCTTCTGAGATTCAGGAGTACGCCCACCCCACCTGCCG TTATGCCCCCCAGTGAGGCTTCTGAGATTCAGGAGCACGCCCACCCCACC TGCCGTTATAC	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0014 a0001c0008t0009g0014	1	32	0.0313	-110	c.734 others(19): Show c.734+77727_734+77836del	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	6/11			chr6	TogoVar
PTGES3L_chr17_42963103_42985080	42967324	TAATATAT others(103): Show TAATATATAAAATATATATTATATAATATATAATATAATATATAAAATAT ATATTATATAATATATAATATAATATATAATATATAAATATATATGTATT TATATATGTAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0108 a0005c0005t0001g0108	1	333	0.0030	-110	c.17 others(11): Show c.1714_*1823del	PTGES3L	ENSG00000267060.7	transcript	ENST00000591916.7	protein_coding		778		chr17	TogoVar
PTP4A3_chr8_141387021_141437454	141437061	GGGGAGCT others(103): Show GGGGAGCTGTGGGTCCCGGCCTGGCCCTGCCCGCCATGGGGAGCTGTGGG TCCCGGCCTGGCCCTGCCCGCCGTGGGGAGCTGTGGGTCCCGGCCTGGCC CTGCCCGCCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	322	0.0031	-110	c.60 others(11): Show c.6018_*6127del	PTP4A3	ENSG00000184489.13	transcript	ENST00000521578.6	protein_coding		4608		chr8	TogoVar
PTPRE_chr10_127902103_128090855	127968014	GTGTGTGT others(103): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCCTGGATATAGGTCA CACAGTTGTCTTAGCCGTCAGCCCTCAAAAGGCAGGTTCACATGGTGGCC AGCTCACATCC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0214 a0001c0002t0019g0214	1	302	0.0033	-110	c.-30 others(19): Show c.-30-14250_-30-14141del	PTPRE	ENSG00000132334.17	transcript	ENST00000254667.8	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
PTPRH_chr19_55176247_55214501	55207697	CTCCTGGG others(103): Show CTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGTCTCGACCTCTGGTTTGAG GGAGGAGAGGTTGGGGGCCTGGACTCCTGAGTCTGAGGGAGGAGGGGCTG GGGGTCTGGAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0297 a0001c0014t0001g0297	1	331	0.0030	-110	c.52- others(13): Show c.52-608_52-499del	PTPRH	ENSG00000080031.10	transcript	ENST00000376350.8	protein_coding	1/19			chr19	TogoVar
PUM1_chr1_30926506_31070717	30972357	GGGAGGGG others(103): Show GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGAGAAG AGAAGAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02040.hp2 HG03041.hp2 others(2): Show HG01433.hp2 HG02040.hp2 HG03041.hp2 HG03139.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0055 a0001c0001t0001g0192 a0001c0001t0004g0059 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0192 a0001c0001t0004g0059 a0001c0001t0004g0179 a0001c0001t0004g0185	5	315	0.0159	-110	c.150 others(19): Show c.1506+2184_1506+2293del	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	10/21			chr1	TogoVar
PXYLP1_chr3_141226825_141299924	141248643	GTATATAT others(103): Show GTATATATACACACGTATATATACACACACGTGTATATATACACACGTAT ATACACACACGTGTATATATACACACGTATATACACACACGTGTATATAT ACACACGTATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00642.hp2 others(10): Show HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00738.hp1 HG01106.hp2 HG01169.hp1 HG01175.hp1 HG01358.hp2 HG01361.hp1 HG02080.hp1 HG02738.hp2 HG03927.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0015	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0099 others(9): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0099 a0001c0001t0001g0116 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0002g0014 a0001c0001t0002g0121 a0001c0001t0004g0014 a0001c0001t0004g0109 a0001c0001t0004g0152 a0001c0002t0015g0107	13	382	0.0340	-110	c.-53 others(19): Show c.-53-11473_-53-11364del	PXYLP1	ENSG00000155893.13	transcript	ENST00000286353.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RASIP1_chr19_48715585_48745610	48743372	TCTCTCTA others(103): Show TCTCTCTAGACTGCCTCTCCTCTCGCCCCACCCCACCTGCACCAATTCCT CCTGCTGGGTCCAGTTCTCTCACCCCCGCAATCGTAGGACTTTCGACAAG CGTGAACCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	362	0.0028	-110	c.-29 others(11): Show c.-2966_-2857del	RASIP1	ENSG00000105538.10	transcript	ENST00000222145.9	protein_coding		2763		chr19	TogoVar
RBFOX3_chr17_79084345_79616051	79283975	ACATTTGC others(103): Show ACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAGGACCA TTGTAACATTTGCCTGTTTCAGTACTTATAAATGGAGATGCCTTCTCCAG GACCATCGTAT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	141	0.0071	-110	c.-74 others(19): Show c.-74+23639_-74+23748del	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RILPL1_chr12_123465054_123538719	123521563	TAATATAT others(103): Show TAATATATATACACACATATGTGTATATATATATTAATATATATACACAC ATATGTGTATATATATACACACATATGTGTATATATATACACATATATGT ATATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03540.hp2 HG02451.hp2 HG03540.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0169 a0002c0003t0010g0184 a0002c0003t0010g0169 a0002c0003t0010g0184	2	207	0.0097	-110	c.460 others(17): Show c.460+1822_460+1931del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RILPL1_chr12_123465054_123538719	123521564	AATATATA others(103): Show AATATATATACACACATATGTGTATATATATATTAATATATATACACACA TATGTGTATATATATACACACATATGTGTATATATATACACATATATGTA TATATATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01346.hp1 others(24): Show HG01109.hp1 HG01256.hp1 HG01346.hp1 HG01975.hp2 HG01978.hp2 HG02109.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02717.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 HG04199.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0013 a0002c0003t0001 a0002c0003t0002 others(9): Show a0001c0002t0013 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0006 a0002c0003t0009 a0002c0003t0010 a0002c0003t0011 a0002c0003t0015 a0002c0003t0020 a0002c0003t0025	a0001c0002t0013g0180 a0002c0003t0001g0186 a0002c0003t0002g0158 others(24): Show a0001c0002t0013g0180 a0002c0003t0001g0186 a0002c0003t0002g0158 a0002c0003t0002g0174 a0002c0003t0002g0176 a0002c0003t0002g0179 a0002c0003t0002g0182 a0002c0003t0003g0093 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0004g0177 a0002c0003t0004g0181 a0002c0003t0006g0160 a0002c0003t0006g0162 a0002c0003t0006g0164 a0002c0003t0006g0170 a0002c0003t0006g0171 a0002c0003t0006g0173 a0002c0003t0006g0178 a0002c0003t0009g0161 a0002c0003t0010g0185 a0002c0003t0011g0163 a0002c0003t0015g0175 a0002c0003t0020g0159 a0002c0003t0025g0172	27	207	0.1304	-110	c.460 others(17): Show c.460+1821_460+1930del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RILPL1_chr12_123465054_123538719	123521585	GTATATAT others(103): Show GTATATATATATTAATATATATACACACATATGTGTATATATATACACAC ATATGTGTATATATATACACATATATGTATATATATAAATATATATATAT ACACACATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01071.hp1 HG01081.hp2 others(12): Show HG00280.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01175.hp2 HG01496.hp2 HG01978.hp1 HG02129.hp2 HG03669.hp1 HG03831.hp1 HG04228.hp1 HG04228.hp2 NA18999.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0001t0001 a0001c0001t0002 a0001c0001t0015	a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 others(12): Show a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0033 a0001c0001t0002g0059 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0015g0065	15	208	0.0721	-110	c.460 others(17): Show c.460+1800_460+1909del	RILPL1	ENSG00000188026.13	transcript	ENST00000376874.9	protein_coding	2/6			chr12	TogoVar
RNF126_chr19_642526_668214	667290	CGGACCAC others(103): Show CGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGACCACGTCCCAGGCG GACCAAGCCCAGGCGGACCACGTCCCAGGCGGACCACGTCCCAGGCGGAC CAAGCCCAGGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00597.hp2 others(36): Show HG00408.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01928.hp2 HG01934.hp2 HG02004.hp1 HG02056.hp1 HG02083.hp2 HG02165.hp1 HG02523.hp1 HG03017.hp1 HG03239.hp2 HG03688.hp2 HG04184.hp1 HG04199.hp2 NA18942.hp1 NA18945.hp1 NA18962.hp1 NA18970.hp1 NA18973.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18983.hp1 NA18990.hp1 NA18998.hp2 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19068.hp2 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0004t0004 a0001c0001t0001 a0001c0001t0003 a0001c0004t0004	a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0086 others(36): Show a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0003g0096 a0001c0001t0003g0099 a0001c0001t0003g0114 a0001c0004t0004g0070 a0001c0004t0004g0102	39	429	0.0909	-110	c.-42 others(11): Show c.-4279_-4170del	RNF126	ENSG00000070423.18	transcript	ENST00000292363.10	protein_coding		4077		chr19	TogoVar
RNF212B_chr14_23232936_23278477	23274811	CAGGAGAA others(103): Show CAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATT GCGCCATTGCACTACAGCCTGGGCGACAGAGCAAGACTCCACCTCAAAAA AAAAAAAAAGA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	366	0.0027	-110	c.19 others(11): Show c.1921_*2030del	RNF212B	ENSG00000215277.9	transcript	ENST00000430154.7	protein_coding		1335		chr14	TogoVar

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