Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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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
PCDHA9_chr5_140843382_141017347	140924895	AAAAAAAA others(24): Show AAAAAAAAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0003 a0003	a0003c0037 a0003c0037	a0003c0037t0001 a0003c0037t0001	a0003c0037t0001g0217 a0003c0037t0001g0217	1	161	0.0062	-31	c.239 others(52): Show c.2395-54049_2395-54019delAAAAAATAAAATAAAATAAAATAA AATAAAA	PCDHA9	ENSG00000204961.7	transcript	ENST00000532602.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHAC1_chr5_140921299_141017347	140924895	AAAAAAAA others(24): Show AAAAAAAAAAATAAAATAAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0026 a0005c0010t0026	a0005c0010t0026g0003 a0005c0010t0026g0003	1	182	0.0055	-31	c.-19 others(42): Show c.-1997_-1967delAAAAAAAAAATAAAATAAAATAAAATAAAAT	PCDHAC1	ENSG00000248383.5	transcript	ENST00000253807.3	protein_coding		1403		chr5	TogoVar
PCSK7_chr11_117199337_117237073	117232443	GCCTTCCT others(24): Show GCCTTCCTTCTCGCAGTCGGCTCTCCCTTCTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	458	0.0022	-31	c.-58 others(40): Show c.-580_-550delAAGAAGGGAGAGCCGACTGCGAGAAGGAAGG	PCSK7	ENSG00000160613.15	transcript	ENST00000320934.8	protein_coding		371		chr11	TogoVar
PCYOX1_chr2_70253137_70286185	70279676	TTGGGAGG others(24): Show TTGGGAGGCTGAGGCAGGAGAATTGCCTCAAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0001 a0001c0001t0038g0001	1	422	0.0024	-31	c.22 others(42): Show c.2285_*2315delTGGGAGGCTGAGGCAGGAGAATTGCCTCAAC	PCYOX1	ENSG00000116005.12	transcript	ENST00000433351.7	protein_coding	6/6	2285		chr2	TogoVar
PCYT1B_chrX_24553087_24652347	24593445	CTTTTCTT others(24): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	237	0.0042	-31	c.335 others(48): Show c.335-3302_335-3272delAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PDCD6_chr5_266646_319974	271928	TCCTCCGT others(24): Show TCCTCCGTCCCCTGTCGGGTCCCCCGCGGCCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp2 HG01069.hp2 others(2): Show HG00140.hp1 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025	5	358	0.0140	-31	c.101 others(46): Show c.101+113_101+143delGTCCCCTGTCGGGTCCCCCGCGGCCCCCTC C	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCL_chr9_122813097_122833588	122828107	ACCAAACT others(24): Show ACCAAACTTAAGGCCCAGGAATGGGCCAAGCG	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0119 a0001c0001t0004g0119	1	420	0.0024	-31	c.-6+ others(44): Show c.-6+333_-6+363delCGCTTGGCCCATTCCTGGGCCTTAAGTTTGG	PDCL	ENSG00000136940.14	transcript	ENST00000259467.9	protein_coding	1/3			chr9	TogoVar
PDE3A_chr12_20363537_20693583	20394114	GGAAGGGC others(24): Show GGAAGGGCCTTTCCAGGAGTTTCTTTAACATC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0074 a0004c0008t0074	a0004c0008t0074g0182 a0004c0008t0074g0182	1	196	0.0051	-31	c.960 others(50): Show c.960+23871_960+23901delGAAGGGCCTTTCCAGGAGTTTCTTTA ACATC	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	1/15			chr12	TogoVar
PDE6A_chr5_149852953_149949793	149908667	TTACTTTT others(24): Show TTACTTTTACTCATTTTTTGTTCCTTAAATAC	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02148.hp2 HG02273.hp1 others(1): Show HG01496.hp1 HG02148.hp2 HG02273.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0007 a0001c0001t0002 a0001c0006t0007	a0001c0001t0002g0017 a0001c0006t0007g0028 a0001c0006t0007g0060 others(1): Show a0001c0001t0002g0017 a0001c0006t0007g0028 a0001c0006t0007g0060 a0001c0006t0007g0102	4	326	0.0123	-31	c.999 others(48): Show c.999-1320_999-1290delGTATTTAAGGAACAAAAAATGAGTAAAA GTA	PDE6A	ENSG00000132915.12	transcript	ENST00000255266.10	protein_coding	6/21			chr5	TogoVar
PDE6C_chr10_93607537_93671010	93654779	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18967.hp2 NA18972.hp2 others(2): Show NA18960.hp1 NA18967.hp2 NA18972.hp2 NA18977.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0001 a0001c0005t0001 a0002c0002t0001 a0001c0001t0001 a0001c0005t0001 a0002c0002t0001	a0001c0001t0001g0028 a0001c0005t0001g0015 a0002c0002t0001g0271 others(2): Show a0001c0001t0001g0028 a0001c0005t0001g0015 a0002c0002t0001g0271 a0002c0002t0001g0275 a0002c0002t0001g0282	5	382	0.0131	-31	c.193 others(48): Show c.1936-978_1936-948delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTT	PDE6C	ENSG00000095464.10	transcript	ENST00000371447.4	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PDGFB_chr22_39218359_39249982	39247878	AAAAAAAA others(24): Show AAAAAAAAAAAAATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0218 a0001c0001t0002g0218	1	342	0.0029	-31	c.-39 others(42): Show c.-3946_-3916delATATATATATATATATATATTTTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2897		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247880	AAAAAAAA others(24): Show AAAAAAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 NA19055.hp1 NA19091.hp1 HG02027.hp1 NA19055.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0008 a0001c0001t0002g0228 a0001c0001t0002g0230	3	354	0.0085	-31	c.-39 others(42): Show c.-3948_-3918delATATATATATATATATATATATTTTTTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2899		chr22	TogoVar
PDGFD_chr11_103902189_104169147	104118753	GTATATAT others(24): Show GTATATATTATAAATATTAATATATAATATAT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01256.hp2 HG02040.hp1 others(13): Show HG00408.hp1 HG01256.hp2 HG02040.hp1 HG02622.hp2 HG02809.hp2 HG02970.hp2 HG03471.hp2 NA18964.hp2 NA18970.hp1 NA18979.hp2 NA18995.hp2 NA19062.hp2 NA19065.hp2 NA19077.hp1 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0002t0001 a0001c0002t0012	a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0132 others(13): Show a0001c0001t0002g0115 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0003g0120 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0148 a0001c0001t0011g0116 a0001c0002t0001g0130 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0012g0147	16	154	0.1039	-31	c.124 others(50): Show c.124+45020_124+45050delATATATTATATATTAATATTTATAAT ATATA	PDGFD	ENSG00000170962.13	transcript	ENST00000393158.7	protein_coding	1/6			chr11	TogoVar
PDP2_chr16_66875515_66896101	66893519	ATATATAT others(24): Show ATATATATATATATATATATATATATGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0064	a0001c0001t0064g0001 a0001c0001t0064g0001	1	354	0.0028	-31	c.76 others(42): Show c.7646_*7676delTATATATATATATATATATATATATGTATAT	PDP2	ENSG00000172840.7	transcript	ENST00000311765.4	protein_coding		2419		chr16	TogoVar
PDS5B_chr13_32581452_32783019	32635170	GTTTTTTT others(24): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00597.hp1 others(98): Show HG00408.hp2 HG00438.hp2 HG00597.hp1 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01433.hp2 HG01884.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02486.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp2 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18978.hp1 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19079.hp2 NA19081.hp1 NA19082.hp1 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 NA21309.hp2	a0001 a0008 a0009 a0001 a0008 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0008c0008 a0009c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0047 a0001c0002t0002 a0001c0002t0010 a0001c0003t0001 a0001c0003t0004 a0001c0006t0001 a0008c0008t0004 a0009c0007t0048	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 others(98): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0313 a0001c0001t0004g0013 a0001c0001t0004g0019 a0001c0001t0004g0033 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0083 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0004g0106 a0001c0001t0005g0051 a0001c0001t0011g0067 a0001c0001t0011g0078 a0001c0001t0013g0052 a0001c0001t0013g0054 a0001c0001t0013g0056 a0001c0001t0013g0097 a0001c0001t0038g0006 a0001c0001t0039g0034 a0001c0001t0040g0082 a0001c0001t0041g0096 a0001c0001t0042g0050 a0001c0001t0043g0062 a0001c0001t0044g0089 a0001c0001t0047g0055 a0001c0002t0002g0207 a0001c0002t0002g0208 a0001c0002t0010g0093 a0001c0002t0010g0094 a0001c0002t0010g0095 a0001c0003t0001g0014 a0001c0003t0001g0020 a0001c0003t0001g0039 a0001c0003t0004g0038 a0001c0006t0001g0018 a0008c0008t0004g0032 a0009c0007t0048g0031	101	107	0.9439	-31	c.-19 others(50): Show c.-19-13569_-19-13539delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZD8_chr10_117272274_117380440	117357766	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA18946.hp2 HG02572.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0279 a0001c0001t0001g0265 a0001c0001t0001g0279	2	213	0.0094	-31	c.872 others(50): Show c.872+16559_872+16589delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	PDZD8	ENSG00000165650.12	transcript	ENST00000334464.7	protein_coding	1/4			chr10	TogoVar
PDZRN4_chr12_41183320_41579745	41458994	TGAGGAAT others(24): Show TGAGGAATTAGGTTTGAGATCAGAGTTCAAAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(113): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01884.hp2 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18998.hp1 NA19007.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19080.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp2 NA19240.hp1 NA20752.hp1 NA20905.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0023	a0001c0001 a0001c0004 a0001c0013 others(39): Show a0001c0001 a0001c0004 a0001c0013 a0001c0032 a0001c0042 a0002c0002 a0002c0009 a0002c0015 a0002c0016 a0002c0017 a0002c0024 a0002c0061 a0003c0005 a0003c0006 a0003c0031 a0003c0043 a0004c0003 a0004c0012 a0004c0020 a0004c0040 a0005c0008 a0005c0028 a0005c0029 a0005c0059 a0005c0060 a0007c0014 a0008c0025 a0008c0026 a0008c0046 a0008c0057 a0009c0021 a0010c0051 a0010c0052 a0011c0038 a0013c0033 a0014c0058 a0015c0039 a0016c0053 a0017c0035 a0018c0047 a0019c0048 a0023c0050	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0004t0005 a0001c0013t0001 a0001c0032t0007 a0001c0042t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0009t0005 a0002c0015t0001 a0002c0016t0001 a0002c0017t0002 a0002c0024t0002 a0002c0061t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0002 a0003c0031t0001 a0003c0043t0001 a0004c0003t0001 a0004c0003t0002 a0004c0012t0001 a0004c0020t0001 a0004c0040t0001 a0005c0008t0001 a0005c0008t0003 a0005c0028t0001 a0005c0029t0001 a0005c0059t0001 a0005c0060t0001 a0007c0014t0001 a0008c0025t0001 a0008c0026t0001 a0008c0046t0001 a0008c0057t0001 a0009c0021t0001 a0010c0051t0001 a0010c0052t0001 a0011c0038t0001 a0013c0033t0006 a0014c0058t0001 a0015c0039t0001 a0016c0053t0001 a0017c0035t0001 a0018c0047t0001 a0019c0048t0001 a0023c0050t0001	a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0042 others(113): Show a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0042 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0001g0151 a0001c0001t0002g0110 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0004t0001g0011 a0001c0004t0001g0046 a0001c0004t0001g0072 a0001c0004t0001g0111 a0001c0004t0001g0112 a0001c0004t0005g0051 a0001c0013t0001g0068 a0001c0013t0001g0084 a0001c0032t0007g0206 a0001c0042t0001g0015 a0002c0002t0001g0087 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0183 a0002c0002t0001g0184 a0002c0002t0001g0191 a0002c0002t0001g0200 a0002c0002t0002g0159 a0002c0002t0002g0162 a0002c0002t0002g0164 a0002c0009t0001g0172 a0002c0009t0001g0185 a0002c0009t0001g0190 a0002c0009t0005g0194 a0002c0015t0001g0137 a0002c0016t0001g0101 a0002c0016t0001g0186 a0002c0016t0001g0187 a0002c0017t0002g0091 a0002c0024t0002g0133 a0002c0024t0002g0134 a0002c0061t0001g0100 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0059 a0003c0005t0001g0069 a0003c0005t0001g0070 a0003c0005t0001g0074 a0003c0005t0001g0083 a0003c0006t0001g0005 a0003c0006t0001g0079 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0002g0073 a0003c0031t0001g0001 a0003c0043t0001g0117 a0004c0003t0001g0003 a0004c0003t0001g0067 a0004c0003t0001g0081 a0004c0003t0001g0082 a0004c0003t0001g0104 a0004c0003t0001g0105 a0004c0003t0001g0106 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0003t0001g0115 a0004c0003t0001g0120 a0004c0003t0001g0123 a0004c0003t0002g0057 a0004c0003t0002g0058 a0004c0012t0001g0039 a0004c0012t0001g0047 a0004c0012t0001g0102 a0004c0012t0001g0103 a0004c0020t0001g0004 a0004c0020t0001g0153 a0004c0040t0001g0075 a0005c0008t0001g0012 a0005c0008t0001g0161 a0005c0008t0001g0165 a0005c0008t0001g0180 a0005c0008t0001g0182 a0005c0008t0001g0203 a0005c0008t0001g0204 a0005c0008t0003g0189 a0005c0028t0001g0089 a0005c0029t0001g0088 a0005c0059t0001g0193 a0005c0060t0001g0176 a0007c0014t0001g0131 a0007c0014t0001g0132 a0008c0025t0001g0148 a0008c0026t0001g0147 a0008c0046t0001g0135 a0008c0057t0001g0201 a0009c0021t0001g0142 a0009c0021t0001g0143 a0010c0051t0001g0021 a0010c0052t0001g0032 a0011c0038t0001g0158 a0013c0033t0006g0093 a0014c0058t0001g0173 a0015c0039t0001g0043 a0016c0053t0001g0145 a0017c0035t0001g0094 a0018c0047t0001g0139 a0019c0048t0001g0144 a0023c0050t0001g0023	116	206	0.5631	-31	c.844 others(50): Show c.844-47428_844-47398delGGAATTAGGTTTGAGATCAGAGTTCA AAGGA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41540872	TGTTGTTG others(24): Show TGTTGTTGTTGTTGTTGTTGTCCCTTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00438.hp1 others(66): Show HG00099.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00738.hp1 HG00741.hp1 HG01109.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp1 HG02148.hp2 HG02451.hp2 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp2 NA18970.hp2 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18983.hp2 NA19000.hp2 NA19006.hp1 NA19007.hp2 NA19056.hp1 NA19058.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19083.hp1 NA19086.hp2	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0011 a0015 a0017 a0018 a0023	a0001c0001 a0001c0004 a0001c0010 others(27): Show a0001c0001 a0001c0004 a0001c0010 a0001c0011 a0001c0034 a0001c0042 a0002c0002 a0002c0009 a0002c0016 a0002c0017 a0002c0019 a0002c0055 a0002c0061 a0003c0005 a0003c0006 a0003c0043 a0004c0040 a0005c0008 a0005c0060 a0006c0007 a0007c0045 a0008c0025 a0008c0026 a0008c0046 a0008c0057 a0011c0038 a0015c0039 a0017c0035 a0018c0047 a0023c0050	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(30): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0010t0001 a0001c0011t0003 a0001c0034t0003 a0001c0042t0001 a0002c0002t0001 a0002c0002t0002 a0002c0009t0001 a0002c0016t0001 a0002c0017t0002 a0002c0019t0003 a0002c0055t0001 a0002c0061t0001 a0003c0005t0001 a0003c0006t0001 a0003c0006t0002 a0003c0043t0001 a0004c0040t0001 a0005c0008t0003 a0005c0060t0001 a0006c0007t0003 a0007c0045t0001 a0008c0025t0001 a0008c0026t0001 a0008c0046t0001 a0008c0057t0001 a0011c0038t0001 a0015c0039t0001 a0017c0035t0001 a0018c0047t0001 a0023c0050t0001	a0001c0001t0001g0016 a0001c0001t0004g0006 a0001c0004t0001g0011 others(66): Show a0001c0001t0001g0016 a0001c0001t0004g0006 a0001c0004t0001g0011 a0001c0004t0001g0046 a0001c0004t0001g0072 a0001c0004t0001g0111 a0001c0010t0001g0114 a0001c0010t0001g0121 a0001c0010t0001g0122 a0001c0011t0003g0034 a0001c0011t0003g0038 a0001c0011t0003g0052 a0001c0011t0003g0055 a0001c0034t0003g0037 a0001c0042t0001g0015 a0002c0002t0001g0099 a0002c0002t0001g0168 a0002c0002t0001g0174 a0002c0002t0001g0183 a0002c0002t0001g0191 a0002c0002t0001g0192 a0002c0002t0001g0200 a0002c0002t0002g0159 a0002c0009t0001g0172 a0002c0009t0001g0185 a0002c0016t0001g0101 a0002c0017t0002g0091 a0002c0019t0003g0167 a0002c0019t0003g0175 a0002c0019t0003g0177 a0002c0055t0001g0205 a0002c0061t0001g0100 a0003c0005t0001g0017 a0003c0005t0001g0018 a0003c0005t0001g0048 a0003c0005t0001g0049 a0003c0005t0001g0050 a0003c0005t0001g0053 a0003c0005t0001g0059 a0003c0005t0001g0069 a0003c0005t0001g0070 a0003c0005t0001g0074 a0003c0005t0001g0083 a0003c0006t0001g0005 a0003c0006t0001g0079 a0003c0006t0001g0095 a0003c0006t0001g0096 a0003c0006t0001g0097 a0003c0006t0001g0098 a0003c0006t0002g0073 a0003c0043t0001g0117 a0004c0040t0001g0075 a0005c0008t0003g0189 a0005c0060t0001g0176 a0006c0007t0003g0020 a0006c0007t0003g0025 a0006c0007t0003g0026 a0006c0007t0003g0027 a0006c0007t0003g0029 a0007c0045t0001g0125 a0008c0025t0001g0148 a0008c0026t0001g0147 a0008c0046t0001g0135 a0008c0057t0001g0201 a0011c0038t0001g0158 a0015c0039t0001g0043 a0017c0035t0001g0094 a0018c0047t0001g0139 a0023c0050t0001g0023	69	206	0.3350	-31	c.120 others(52): Show c.1204-11763_1204-11733delCCCTTTTCTTCGTTGTTGTTGTTG TTGTTGT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEMT_chr17_17500563_17596708	17586249	AAAGAAAG others(24): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0020 a0005c0006t0001g0020	1	346	0.0029	-31	c.96+ others(46): Show c.96+5251_96+5281delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT T	PEMT	ENSG00000133027.18	transcript	ENST00000255389.10	protein_coding	1/6			chr17	TogoVar
PERM1_chr1_970198_987093	976992	ACTCCCCC others(24): Show ACTCCCCCCGCAACCCCGGGAACCGCCTCCCG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19081.hp1 HG03139.hp2 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0015 a0004c0004 a0001c0015 a0004c0004	a0001c0015t0002 a0004c0004t0002 a0001c0015t0002 a0004c0004t0002	a0001c0015t0002g0048 a0004c0004t0002g0162 a0001c0015t0002g0048 a0004c0004t0002g0162	2	371	0.0054	-31	c.215 others(48): Show c.2150-399_2150-369delCGGGAGGCGGTTCCCGGGGTTGCGGGGG GAG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977254	GCCAACCC others(24): Show GCCAACCCCGGGAACCGCCTGCCCCCACCGAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02622.hp1 HG02965.hp2 others(2): Show HG00642.hp2 HG02622.hp1 HG02965.hp2 NA19030.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0040 a0001c0001t0002g0023 a0001c0001t0002g0040	5	231	0.0216	-31	c.215 others(48): Show c.2150-661_2150-631delGTCGGTGGGGGCAGGCGGTTCCCGGGGT TGG	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	978210	TGCCTGCC others(24): Show TGCCTGCCCCGCACACGCCCGCCCCGGGAACC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18998.hp2 NA19080.hp2 NA18975.hp2 NA18998.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0086 a0001c0001t0002g0039 a0001c0001t0002g0086	3	406	0.0074	-31	c.214 others(48): Show c.2149+640_2149+670delGGTTCCCGGGGCGGGCGTGTGCGGGGCA GGC	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX14_chr1_10469950_10635758	10577554	ATATATAT others(24): Show ATATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	229	0.0044	-31	c.170 others(50): Show c.170-21682_170-21652delATATATATTTTTTTTTTTTTTTTTTT TTTTT	PEX14	ENSG00000142655.13	transcript	ENST00000356607.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PF4V1_chr4_73848296_73859483	73855077	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp1 NA19067.hp2 NA18945.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	393	0.0051	-31	c.95 others(40): Show c.956_*986delTATATATATATATATATATATATATATATTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		595		chr4	TogoVar
PF4V1_chr4_73848296_73859483	73855079	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	413	0.0024	-31	c.95 others(40): Show c.958_*988delTATATATATATATATATATATATATATTTTT	PF4V1	ENSG00000109272.4	transcript	ENST00000226524.4	protein_coding		597		chr4	TogoVar
PF4_chr4_73975811_73987027	73982205	AAAAAGAA others(24): Show AAAAAGAAAAGAAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	364	0.0027	-31	c.-28 others(40): Show c.-283_-253delCTTTCTTTCTTTCTTTCTTTTCTTTTCTTTT	PF4	ENSG00000163737.5	transcript	ENST00000296029.4	protein_coding		179		chr4	TogoVar
PFKP_chr10_3062548_3141802	3139486	TTCCCTTC others(24): Show TTCCCTTCGTGTAAATGCAAAGAGCCCAGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG03486.hp1 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0011 a0001c0059 a0001c0011 a0001c0059	a0001c0011t0004 a0001c0059t0004 a0001c0011t0004 a0001c0059t0004	a0001c0011t0004g0197 a0001c0059t0004g0241 a0001c0011t0004g0197 a0001c0059t0004g0241	2	400	0.0050	-31	c.29 others(42): Show c.2908_*2938delTCCCTTCGTGTAAATGCAAAGAGCCCAGCCC	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		2685		chr10	TogoVar
PGAM5_chr12_132705842_132727734	132718452	GGTCCTGG others(24): Show GGTCCTGGGTGGGGTGCGTGCTGGGTGGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02109.hp1 NA20129.hp2 HG00673.hp2 HG02109.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0087 a0001c0001t0002g0108 a0001c0001t0002g0061 a0001c0001t0002g0087 a0001c0001t0002g0108	3	355	0.0085	-31	c.719 others(46): Show c.719+425_719+455delTGTCCTGGGTGGGGTGCGTGCTGGGTGGGG G	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr12	TogoVar
PGLYRP2_chr19_15463645_15484501	15467839	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(34): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp2 HG01346.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG02015.hp1 HG02071.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02559.hp1 HG02630.hp2 HG02647.hp1 HG02809.hp1 HG02896.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18939.hp1 NA18946.hp2 NA18967.hp2 NA18997.hp1 NA19004.hp1 NA20805.hp1	a0003 a0009 a0012 others(1): Show a0003 a0009 a0012 a0019	a0003c0003 a0009c0010 a0012c0022 others(1): Show a0003c0003 a0009c0010 a0012c0022 a0019c0014	a0003c0003t0001 a0009c0010t0001 a0012c0022t0001 others(1): Show a0003c0003t0001 a0009c0010t0001 a0012c0022t0001 a0019c0014t0001	a0003c0003t0001g0011 a0003c0003t0001g0029 a0003c0003t0001g0030 others(30): Show a0003c0003t0001g0011 a0003c0003t0001g0029 a0003c0003t0001g0030 a0003c0003t0001g0053 a0003c0003t0001g0054 a0003c0003t0001g0139 a0003c0003t0001g0140 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0259 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0273 a0009c0010t0001g0248 a0009c0010t0001g0253 a0009c0010t0001g0268 a0012c0022t0001g0262 a0019c0014t0001g0141	37	362	0.1022	-31	c.79 others(40): Show c.793_*823delGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		805		chr19	TogoVar
PGLYRP2_chr19_15463645_15484501	15469492	GAATAGAC others(24): Show GAATAGACGTGCCGCCGGGAAGTTGGGGGCCT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	380	0.0026	-31	c.164 others(48): Show c.1641+109_1641+139delAGGCCCCCAACTTCCCGGCGGCACGTCT ATT	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding	4/4			chr19	TogoVar
PHACTR3_chr20_59599540_59852711	59635170	CTTTCTTT others(24): Show CTTTCTTTCTTTCTTTCTTTCTTTCTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	246	0.0041	-31	c.118 others(50): Show c.118+30041_118+30071delTCTTTCTTTCTTTCTTTCTTTCTCTT TCTTT	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHACTR3_chr20_59599540_59852711	59674562	TTCCCCGC others(24): Show TTCCCCGCTTCTCCTGTTCCCCCCTTCTCCTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp1 HG01109.hp1 others(14): Show HG00735.hp2 HG01081.hp1 HG01109.hp1 HG01928.hp2 HG02055.hp2 HG02258.hp2 HG02486.hp2 HG02809.hp2 HG02886.hp2 HG02965.hp2 HG03098.hp2 HG03209.hp1 HG03516.hp1 NA18906.hp1 NA18939.hp1 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015	a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0201 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0037 a0001c0001t0001g0201 a0001c0001t0002g0002 a0001c0001t0002g0023 a0001c0001t0002g0157 a0001c0001t0002g0246 a0001c0001t0003g0127 a0001c0001t0003g0247 a0001c0001t0006g0069 a0001c0001t0006g0243 a0001c0001t0009g0024 a0001c0001t0009g0159 a0001c0001t0011g0021 a0001c0001t0011g0066 a0001c0001t0012g0006 a0001c0001t0015g0241	17	240	0.0708	-31	c.119 others(50): Show c.119-68494_119-68464delCCCCTTCTCCTGTCCCCGCTTCTCCT GTTCC	PHACTR3	ENSG00000087495.17	transcript	ENST00000371015.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF23_chr17_7230038_7244457	7234362	AGGACTGA others(24): Show AGGACTGACCCAGTACGGGAGAGAAGCAAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0004 a0005c0010t0004	a0005c0010t0004g0041 a0005c0010t0004g0041	1	392	0.0026	-31	c.12 others(42): Show c.1233_*1263delCCTTTGCTTCTCTCCCGTACTGGGTCAGTCC	PHF23	ENSG00000040633.13	transcript	ENST00000320316.8	protein_coding		675		chr17	TogoVar
PHOSPHO1_chr17_49218366_49235787	49228266	TTCCTTCC others(24): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02109.hp1 HG02451.hp2 others(5): Show HG01891.hp1 HG02109.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp2 HG02976.hp1 HG03225.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0002g0009 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0002g0009 a0001c0001t0003g0012 a0001c0001t0007g0084	8	418	0.0191	-31	c.-67 others(48): Show c.-67-1539_-67-1509delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGA	PHOSPHO1	ENSG00000173868.12	transcript	ENST00000310544.9	protein_coding	1/2			chr17	TogoVar
PI4K2A_chr10_97635671_97681434	97678910	TGTGTGTG others(24): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp2 others(57): Show HG00099.hp1 HG00280.hp1 HG00408.hp2 HG00738.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02027.hp1 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18953.hp1 NA18966.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA19002.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19054.hp1 NA19065.hp1 NA19079.hp2 NA19081.hp1 NA19088.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0021 others(50): Show a0001c0001t0002g0001 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0109 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0195 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0243 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0002g0257 a0001c0001t0002g0263 a0001c0001t0002g0268 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0301 a0001c0001t0002g0302 a0001c0001t0002g0304 a0001c0002t0002g0011 a0001c0002t0002g0068 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0002t0002g0084 a0001c0002t0002g0270	60	340	0.1765	-31	c.51 others(42): Show c.5169_*5199delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	PI4K2A	ENSG00000155252.14	transcript	ENST00000370631.4	protein_coding		2477		chr10	TogoVar
PIAS2_chr18_46798218_46922507	46803044	CAAAAAAA others(24): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01257.hp2 others(32): Show HG00544.hp2 HG00673.hp2 HG01257.hp2 HG02015.hp1 HG02056.hp1 HG02129.hp2 HG02135.hp1 HG02148.hp2 HG02155.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02683.hp1 HG02818.hp2 HG02895.hp2 HG02976.hp1 HG03130.hp1 HG03486.hp1 HG03579.hp2 HG04199.hp2 HG04228.hp2 NA18948.hp1 NA18955.hp2 NA18960.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18981.hp1 NA18987.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19068.hp1 NA19085.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 others(12): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0024 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0088 a0001c0001t0089 a0001c0001t0094 a0001c0001t0097 a0001c0001t0107 a0001c0001t0132	a0001c0001t0002g0219 a0001c0001t0002g0251 a0001c0001t0002g0271 others(32): Show a0001c0001t0002g0219 a0001c0001t0002g0251 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0005g0235 a0001c0001t0008g0301 a0001c0001t0008g0303 a0001c0001t0009g0218 a0001c0001t0009g0252 a0001c0001t0009g0290 a0001c0001t0009g0292 a0001c0001t0009g0296 a0001c0001t0024g0015 a0001c0001t0081g0300 a0001c0001t0083g0299 a0001c0001t0084g0298 a0001c0001t0085g0287 a0001c0001t0088g0145 a0001c0001t0089g0280 a0001c0001t0094g0279 a0001c0001t0097g0302 a0001c0001t0107g0273 a0001c0001t0132g0037	35	71	0.4930	-31	c.93 others(42): Show c.9358_*9388delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	PIAS2	ENSG00000078043.16	transcript	ENST00000585916.6	protein_coding		173		chr18	TogoVar
PIAS4_chr19_4002736_4044386	4034258	GGCCCTGC others(24): Show GGCCCTGCCTGTGGGGGTGGGCCGGGTCCCCA	G G	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01516.hp2 HG01517.hp2 others(2): Show HG01346.hp2 HG01516.hp2 HG01517.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0002g0259 others(2): Show a0001c0003t0002g0257 a0001c0003t0002g0258 a0001c0003t0002g0259 a0001c0003t0002g0262 a0001c0003t0002g0264	5	332	0.0151	-31	c.114 others(48): Show c.1142+684_1142+714delGCCTGTGGGGGTGGGCCGGGTCCCCAGC CCT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIBF1_chr13_72777133_73021461	72912878	GTGGTATG others(24): Show GTGGTATGATTATACTATATGATTATAGTATA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	344	0.0029	-31	c.164 others(50): Show c.1640-4165_1640-4135delGGTATGATTATACTATATGATTATAG TATAT	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIBF1_chr13_72777133_73021461	72923350	CTAAGAGA others(24): Show CTAAGAGAGCTAAAAGATAACCCTTGGAGGAA	C C	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18969.hp1 NA18995.hp1 others(1): Show NA18952.hp2 NA18969.hp1 NA18995.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100	4	344	0.0116	-31	c.173 others(50): Show c.1730+6187_1730+6217delAGAGAGCTAAAAGATAACCCTTGGAG GAATA	PIBF1	ENSG00000083535.16	transcript	ENST00000326291.11	protein_coding	13/17		INFO_REALIGN_3_PRIME	chr13	TogoVar
PIEZO2_chr18_10665247_11154569	10795320	TATTTTAT others(24): Show TATTTTATTTTATTTTATTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01517.hp2 HG01943.hp1 others(6): Show HG00609.hp2 HG01517.hp2 HG01943.hp1 HG02027.hp1 HG02055.hp1 HG02818.hp2 HG03041.hp1 HG03139.hp2 NA18522.hp1	a0001 a0002 a0013 others(2): Show a0001 a0002 a0013 a0025 a0028	a0001c0006 a0001c0039 a0001c0047 others(5): Show a0001c0006 a0001c0039 a0001c0047 a0002c0001 a0002c0038 a0013c0083 a0025c0043 a0028c0037	a0001c0006t0001 a0001c0039t0001 a0001c0047t0002 others(5): Show a0001c0006t0001 a0001c0039t0001 a0001c0047t0002 a0002c0001t0001 a0002c0038t0001 a0013c0083t0002 a0025c0043t0002 a0028c0037t0002	a0001c0006t0001g0139 a0001c0039t0001g0004 a0001c0047t0002g0144 others(6): Show a0001c0006t0001g0139 a0001c0039t0001g0004 a0001c0047t0002g0144 a0002c0001t0001g0007 a0002c0001t0001g0063 a0002c0038t0001g0024 a0013c0083t0002g0127 a0025c0043t0002g0040 a0028c0037t0002g0134	9	158	0.0570	-31	c.152 others(48): Show c.1528-349_1528-319delTAAAATAAAATAAAATAAAATAAAATAA AAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	12/55			chr18	TogoVar
PIEZO2_chr18_10665247_11154569	10944488	CATATATA others(24): Show CATATATATATATATATATCTTAGTAACAGAT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG01106.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03453.hp1	a0001 a0002 a0017 others(2): Show a0001 a0002 a0017 a0023 a0026	a0001c0059 a0002c0023 a0017c0016 others(2): Show a0001c0059 a0002c0023 a0017c0016 a0023c0092 a0026c0035	a0001c0059t0003 a0002c0023t0002 a0017c0016t0003 others(2): Show a0001c0059t0003 a0002c0023t0002 a0017c0016t0003 a0023c0092t0002 a0026c0035t0001	a0001c0059t0003g0111 a0002c0023t0002g0104 a0017c0016t0003g0011 others(2): Show a0001c0059t0003g0111 a0002c0023t0002g0104 a0017c0016t0003g0011 a0023c0092t0002g0045 a0026c0035t0001g0010	5	59	0.0847	-31	c.287 others(50): Show c.287-33291_287-33261delATCTGTTACTAAGATATATATATATA TATAT	PIEZO2	ENSG00000154864.14	transcript	ENST00000674853.1	protein_coding	3/55			chr18	TogoVar
PIGC_chr1_172436457_172449069	172447643	AAGCAAGA others(24): Show AAGCAAGAAATGTCTCATGAGCATCAAACTCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	386	0.0026	-31	c.-38 others(42): Show c.-3895_-3865delGGAGTTTGATGCTCATGAGACATTTCTTGCT	PIGC	ENSG00000135845.10	transcript	ENST00000344529.5	protein_coding		3575		chr1	TogoVar
PIGU_chr20_34555542_34682092	34558762	GCCCCGGA others(24): Show GCCCCGGAGCCCTTGAGCGCGAGGCGCGGAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	318	0.0031	-31	c.20 others(42): Show c.2073_*2103delGCTCCGCGCCTCGCGCTCAAGGGCTCCGGGG	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding		1779		chr20	TogoVar
PIGU_chr20_34555542_34682092	34631773	ATATATAT others(24): Show ATATATATATATATTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	309	0.0032	-31	c.529 others(48): Show c.529+2811_529+2841delAAAAAAAAAAAAAAAAAAATATATATAT ATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631786	TTTTTTTT others(24): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	318	0.0031	-31	c.529 others(48): Show c.529+2798_529+2828delTAAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGX_chr3_196707377_196741007	196732235	TATATATA others(24): Show TATATATATATATATATATATATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01934.hp2 HG02895.hp1 others(2): Show HG00280.hp2 HG01934.hp2 HG02895.hp1 NA18953.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 others(1): Show a0001c0001t0013 a0001c0001t0015 a0001c0001t0024 a0001c0001t0027	a0001c0001t0013g0001 a0001c0001t0015g0139 a0001c0001t0024g0050 others(1): Show a0001c0001t0013g0001 a0001c0001t0015g0139 a0001c0001t0024g0050 a0001c0001t0027g0040	5	414	0.0121	-31	c.633 others(48): Show c.633+1144_633+1174delATATATATATATATATATATATTTTATT TTA	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5			chr3	TogoVar
PIGX_chr3_196707377_196741007	196732236	ATATATAT others(24): Show ATATATATATATATATATATATTTTATTTTAT	A A	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0159 a0001c0001t0014g0159	1	398	0.0025	-31	c.633 others(48): Show c.633+1146_633+1176delATATATATATATATATATATTTTATTTT ATT	PIGX	ENSG00000163964.18	transcript	ENST00000392391.9	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138693936	AATATATA others(24): Show AATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp1 HG03540.hp2 others(1): Show HG01884.hp1 HG03041.hp1 HG03540.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0006 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007	4	165	0.0242	-31	c.189 others(48): Show c.1892+819_1892+849delAATATATATATATATATATATATATATA TAT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3CB_chr3_138647698_138839928	138705159	AAAAAAAA others(24): Show AAAAAAAAAAAAAAACAAAAAACAAAACAAAC	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	204	0.0049	-31	c.153 others(48): Show c.1531-697_1531-667delGTTTGTTTTGTTTTTTGTTTTTTTTTTT TTT	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	11/23			chr3	TogoVar
PIK3R1_chr5_68210756_68306821	68262444	TGTAGAAT others(24): Show TGTAGAATACATATATATATCTATATATGTAC	T T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0058 a0001c0001t0005g0058	1	306	0.0033	-31	c.335 others(50): Show c.335-10945_335-10915delGTAGAATACATATATATATCTATATA TGTAC	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15			chr5	TogoVar

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