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
PIK3CB_chr3_138647698_138839928	138693945	A A	ATATATAT others(37): Show ATATATATATATATATATATTATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	201	0.0050	44	c.189 others(61): Show c.1892+840_1892+841insATATATATATATATATATATATATAATA TATATATATATATATA	PIK3CB	ENSG00000051382.9	transcript	ENST00000674063.1	protein_coding	14/23			chr3	TogoVar
PIK3R1_chr5_68210756_68306821	68262863	G G	GTATACAT others(37): Show GTATACATATATACATGTAGATACATGTAGATGCATGTATACATA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0008 a0001c0001t0028g0008	1	196	0.0051	44	c.335 others(63): Show c.335-10520_335-10519insATATACATGTAGATACATGTAGATGC ATGTATACATATATACAT	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262946	G G	GATACATG others(37): Show GATACATGTATACATGTAGATGCATGTAGATACATGTATACATAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA18998.hp1 HG02602.hp2 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0055 a0001c0001t0002 a0001c0001t0055	a0001c0001t0002g0036 a0001c0001t0055g0254 a0001c0001t0002g0036 a0001c0001t0055g0254	2	288	0.0069	44	c.335 others(63): Show c.335-10435_335-10434insTACATGTAGATGCATGTAGATACATG TATACATATATACATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R1_chr5_68210756_68306821	68262982	G G	GATACATG others(37): Show GATACATGTATACATGTAGATGCATGTAGATACATGTATACATAT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0028 a0001c0001t0050g0028	1	226	0.0044	44	c.335 others(63): Show c.335-10399_335-10398insTACATGTAGATGCATGTAGATACATG TATACATATATACATGTA	PIK3R1	ENSG00000145675.16	transcript	ENST00000521381.6	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr5	TogoVar
PIK3R3_chr1_46035140_46137629	46071730	T T	TATATATA others(37): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0303 a0001c0001t0013g0303	1	260	0.0038	44	c.315 others(61): Show c.315-4640_315-4639insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTATATATAT	PIK3R3	ENSG00000117461.15	transcript	ENST00000262741.10	protein_coding	3/9			chr1	TogoVar
PIP4K2A_chr10_22529854_22719578	22664066	T T	TATATATA others(37): Show TATATATATACGTATATATATATATACGTATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0030 a0001c0002t0031g0030	1	204	0.0049	44	c.144 others(63): Show c.144+50116_144+50117insGTATATATATATATATACGTATATAT ATATATACGTATATATAT	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PIPOX_chr17_29038141_29062216	29039609	C C	CATATATA others(37): Show CATATATATACATATATATATATATATATATACACACATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0048	1	346	0.0029	44	c.-36 others(55): Show c.-3617_-3616insATATATATACATATATATATATATATATATACAC ACATATATAT	PIPOX	ENSG00000179761.12	transcript	ENST00000323372.9	protein_coding		3531		chr17	TogoVar
PITHD1_chr1_23773418_23793232	23783400	C C	CATATATA others(37): Show CATATATATACACACATATATGTGTATATATACATATATACACAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	147	0.0068	44	c.321 others(61): Show c.321-2268_321-2267insTACACACATATATGTGTATATATACATA TATACACATATATATA	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITHD1_chr1_23773418_23793232	23783400	C C	CATATATA others(37): Show CATATATATATACACATATATGTGTATATATACATATATACGCAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp1 HG01175.hp1 others(7): Show HG00639.hp2 HG00735.hp1 HG01175.hp1 HG02451.hp2 HG02622.hp1 HG02970.hp1 HG03225.hp2 NA18522.hp1 NA18906.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0064 others(1): Show a0001c0001t0001g0022 a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0002t0003g0011	10	156	0.0641	44	c.321 others(61): Show c.321-2268_321-2267insTATACACATATATGTGTATATATACATA TATACGCATATATATA	PITHD1	ENSG00000057757.10	transcript	ENST00000246151.9	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PITPNC1_chr17_67372281_67702256	67413401	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0060 a0001c0001t0017g0060	1	110	0.0091	44	c.48+ others(61): Show c.48+35230_48+35231insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNC1_chr17_67372281_67702256	67494185	T T	TTCTTTTT others(37): Show TTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02015.hp1 HG02056.hp1 others(7): Show HG01175.hp1 HG02015.hp1 HG02056.hp1 HG02083.hp2 HG02109.hp2 HG02738.hp1 HG02970.hp2 HG03017.hp1 HG03710.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0037 a0001c0001t0052 a0001c0001t0071	a0001c0001t0001g0079 a0001c0001t0002g0095 a0001c0001t0003g0036 others(7): Show a0001c0001t0001g0079 a0001c0001t0002g0095 a0001c0001t0003g0036 a0001c0001t0004g0046 a0001c0001t0005g0089 a0001c0001t0005g0152 a0001c0001t0015g0015 a0001c0001t0037g0216 a0001c0001t0052g0185 a0001c0001t0071g0064	10	67	0.1493	44	c.49- others(61): Show c.49-38616_49-38615insCTTTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCT	PITPNC1	ENSG00000154217.16	transcript	ENST00000581322.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6561199	C C	CCTCCTCT others(37): Show CCTCCTCTCCCTTCCTCTTCCCCCTTCCTCCTTCCCCTCTTCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	87	0.0115	44	c.-47 others(55): Show c.-4794_-4793insAAGGAAGAGGGGAAGGAGGAAGGGGGAAGAGGAA GGGAGAGGAG	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		4645		chr17	TogoVar
PIWIL3_chr22_24714034_24779720	24757661	C C	CACACACA others(37): Show CACACACACACACACACACACATATATATAAAATATGTATATATT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	382	0.0052	44	c.355 others(59): Show c.355+246_355+247insAATATATACATATTTTATATATATGTGTGT GTGTGTGTGTGTGT	PIWIL3	ENSG00000184571.14	transcript	ENST00000616349.5	protein_coding	4/20			chr22	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02083.hp1 NA18977.hp2 others(3): Show HG02027.hp2 HG02083.hp1 NA18977.hp2 NA18985.hp1 NA18985.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0007 a0002c0002t0002 a0001c0004t0007 a0002c0002t0002	a0001c0004t0007g0016 a0002c0002t0002g0002 a0002c0002t0002g0007 others(1): Show a0001c0004t0007g0016 a0002c0002t0002g0002 a0002c0002t0002g0007 a0002c0002t0002g0042	6	190	0.0316	44	c.-40 others(55): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAA GAAAGAAAGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA18979.hp2 HG02165.hp1 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0006 a0002c0002t0002g0002 a0002c0002t0002g0006	2	186	0.0108	44	c.-40 others(55): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAA GAAAGAAAGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKDCC_chr2_42043021_42063517	42044175	G G	GAAGGAAG others(37): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	185	0.0054	44	c.-40 others(55): Show c.-4025_-4024insAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAA GAAAGAAAGA	PKDCC	ENSG00000162878.13	transcript	ENST00000294964.6	protein_coding		3845		chr2	TogoVar
PKHD1_chr6_51610299_52092613	51801639	T T	TTGTGTGT others(37): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03540.hp1 HG02922.hp1 HG03540.hp1	a0011 a0031 a0011 a0031	a0011c0017 a0031c0060 a0011c0017 a0031c0060	a0011c0017t0005 a0031c0060t0005 a0011c0017t0005 a0031c0060t0005	a0011c0017t0005g0080 a0031c0060t0005g0022 a0011c0017t0005g0080 a0031c0060t0005g0022	2	56	0.0357	44	c.830 others(65): Show c.8303-10267_8303-10266insCACACACACACACACACACACACA CACACACACACACACACACA	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	52/66			chr6	TogoVar
PKIA_chr8_78511340_78610267	78549327	C C	CACACTAG others(37): Show CACACTAGCTTTTTTTAGATATGCACATTTTAGATATGCACATTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	184	0.0054	44	c.-15 others(65): Show c.-156-23483_-156-23482insCACTAGCTTTTTTTAGATATGCAC ATTTTAGATATGCACATTTA	PKIA	ENSG00000171033.13	transcript	ENST00000396418.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKNOX2_chr11_125159751_125438389	125178549	A A	AGAAGGAA others(37): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0136 a0001c0001t0005g0136	1	218	0.0046	44	c.-20 others(65): Show c.-201+13788_-201+13789insGGAAGGAAGGAAGGAAAGAAAGAA GGAAGGAAGGAAGGAAGGAA	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKNOX2_chr11_125159751_125438389	125309130	C C	CCTTCCTT others(37): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA19043.hp2 HG03486.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0135 a0001c0001t0004g0171 a0001c0001t0001g0135 a0001c0001t0004g0171	2	165	0.0121	44	c.-12 others(65): Show c.-129-22686_-129-22685insCCTTCCTTCCTTCCTTCCTTCCTT CCTTTCTTTCTTTCTTTCTT	PKNOX2	ENSG00000165495.16	transcript	ENST00000298282.14	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP1_chr1_201278506_201337989	201316117	C C	CGGATGGA others(37): Show CGGATGGACGGACGGACGGACGGACGGACGGACGGACGGACGGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02109.hp2 others(6): Show HG01884.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp1 HG02723.hp1 HG02896.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp1	a0003 a0003	a0003c0008 a0003c0014 a0003c0008 a0003c0014	a0003c0008t0006 a0003c0008t0017 a0003c0008t0029 others(1): Show a0003c0008t0006 a0003c0008t0017 a0003c0008t0029 a0003c0014t0006	a0003c0008t0006g0033 a0003c0008t0006g0063 a0003c0008t0006g0064 others(4): Show a0003c0008t0006g0033 a0003c0008t0006g0063 a0003c0008t0006g0064 a0003c0008t0017g0036 a0003c0008t0029g0239 a0003c0014t0006g0207 a0003c0014t0006g0236	9	313	0.0288	44	c.702 others(59): Show c.702-413_702-412insCGGACGGACGGACGGACGGATGGATGGACG GACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(37): Show TGGACGGACGGACGGACGGACGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0186 a0001c0002t0002g0186	1	312	0.0032	44	c.702 others(59): Show c.702-413_702-412insCGGACGGACGGACGGACGGACGGACGGACG GACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316121	T T	TGGACGGA others(37): Show TGGACGGACGGACGGATGGACGGACGGACGGACGGACGGACGGAC	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	312	0.0032	44	c.702 others(59): Show c.702-417_702-416insTGGACGGACGGACGGACGGACGGACGGACG GACGGACGGACGGA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PKP1_chr1_201278506_201337989	201316143	G G	GATGGATG others(37): Show GATGGATGGATGGATGGATGGATGGATGGATGGACGGACGGACGT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	193	0.0052	44	c.702 others(59): Show c.702-409_702-408insTGGATGGATGGATGGATGGATGGATGGATG GACGGACGGACGTA	PKP1	ENSG00000081277.13	transcript	ENST00000367324.8	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLA2G4C_chr19_48042846_48115817	48055389	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02886.hp1 HG02818.hp1 HG02886.hp1	a0004 a0011 a0004 a0011	a0004c0002 a0011c0018 a0004c0002 a0011c0018	a0004c0002t0003 a0011c0018t0019 a0004c0002t0003 a0011c0018t0019	a0004c0002t0003g0134 a0011c0018t0019g0183 a0004c0002t0003g0134 a0011c0018t0019g0183	2	199	0.0101	44	c.125 others(61): Show c.1258-341_1258-340insTATATATATATATATATATATATATATA TATATATATATATATA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	14/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105939	C C	CTTCTTTC others(37): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0054 a0006c0011t0001g0054	1	220	0.0045	44	c.9-4 others(55): Show c.9-496_9-495insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAA	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLA2G4C_chr19_48042846_48115817	48105945	C C	CCTTTCTT others(37): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	120	0.0083	44	c.9-5 others(55): Show c.9-502_9-501insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAG	PLA2G4C	ENSG00000105499.14	transcript	ENST00000599921.6	protein_coding	2/16			chr19	TogoVar
PLAAT3_chr11_63569462_63619433	63571808	G G	GGGGAGGG others(37): Show GGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGAGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	4	0.2500	44	c.31 others(55): Show c.3136_*3137insTCCCCTCCCCTCTCCTCCCCTTCCCTCCCCTCCC CTCCCCTCCC	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		2653		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615022	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATGTATGTATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 NA18940.hp1 NA18951.hp1 others(4): Show HG01123.hp1 NA18940.hp1 NA18951.hp1 NA18960.hp1 NA18969.hp1 NA18983.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0022 others(2): Show a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0087 a0001c0001t0002g0088	7	261	0.0268	44	c.-69 others(53): Show c.-693_-692insCATATATACATACATATATATATATATATATATATA TATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		590		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615050	A A	ATATATAT others(37): Show ATATATATATATGTATGTATATATGTATATATGTGTATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	329	0.0030	44	c.-72 others(53): Show c.-721_-720insCATATATATACACATATATACATATATACATACATA TATATATA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		618		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTATAT others(37): Show GTGTATATATATGTGTGTGTATATGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01516.hp1 others(7): Show HG00597.hp1 HG00733.hp1 HG01516.hp1 HG01517.hp1 HG02055.hp1 HG02109.hp2 HG03516.hp2 NA19056.hp1 NA19077.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0207 others(6): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0235 a0001c0001t0001g0240 a0001c0001t0001g0299 a0001c0001t0001g0325 a0001c0001t0007g0290	10	150	0.0667	44	c.-73 others(53): Show c.-735_-734insTATATACACATATATATACACATATACACACACATA TATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTATAT others(37): Show GTGTATATATATGTGTGTGTATATGTGTATATATATGTGTGTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00673.hp1 HG02886.hp2 others(2): Show HG00642.hp2 HG00673.hp1 HG02886.hp2 HG03453.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 others(2): Show a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0163	5	145	0.0345	44	c.-73 others(53): Show c.-735_-734insTATACACACATATATATACACATATACACACACATA TATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615064	G G	GTGTATAT others(37): Show GTGTATATATATGTGTGTGTATGTGTGTATATATATGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02895.hp1 HG03130.hp1 others(1): Show HG02572.hp2 HG02895.hp1 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0003g0195 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0194 a0001c0001t0003g0195 a0001c0001t0003g0197	4	144	0.0278	44	c.-73 others(53): Show c.-735_-734insTATATACACATATATATACACACATACACACACATA TATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		632		chr11	TogoVar
PLAAT3_chr11_63569462_63619433	63615080	G G	GTGTATAT others(37): Show GTGTATATGTGTATATATATGTGTATATATGTGTATATGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	63	0.0159	44	c.-75 others(53): Show c.-751_-750insTACACACATATACACATATATACACATATATATACA CATATACA	PLAAT3	ENSG00000176485.14	transcript	ENST00000415826.3	protein_coding		648		chr11	TogoVar
PLAG1_chr8_56155909_56216273	56210948	T T	TTATTAAT others(37): Show TTATTAATTTTCTCGATAATAGATATAGTTAATTTTTTATGAACA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0217 a0001c0001t0003g0217	1	306	0.0033	44	c.-32 others(61): Show c.-322+172_-322+173insTGTTCATAAAAAATTAACTATATCTATT ATCGAGAAAATTAATA	PLAG1	ENSG00000181690.8	transcript	ENST00000316981.8	protein_coding	1/4			chr8	TogoVar
PLCB1_chr20_8127266_8889900	8574754	C C	CCACCAAC others(37): Show CCACCAACTTTCTTGAGTCATTGGTTGATGGTTGTTTCCAGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp1 HG03041.hp1 others(3): Show HG02258.hp2 HG02559.hp1 HG03041.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0007 others(3): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0022 a0002c0025	a0001c0001t0006 a0001c0006t0020 a0001c0007t0007 others(3): Show a0001c0001t0006 a0001c0006t0020 a0001c0007t0007 a0001c0008t0012 a0001c0022t0015 a0002c0025t0001	a0001c0001t0006g0028 a0001c0006t0020g0074 a0001c0007t0007g0014 others(3): Show a0001c0001t0006g0028 a0001c0006t0020g0074 a0001c0007t0007g0014 a0001c0008t0012g0102 a0001c0022t0015g0103 a0002c0025t0001g0044	6	106	0.0566	44	c.247 others(63): Show c.247-53537_247-53494dupCCAACTTTCTTGAGTCATTGGTTGAT GGTTGTTTCCAGGAGACA	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(37): Show CTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0069 a0001c0069	a0001c0069t0007 a0001c0069t0007	a0001c0069t0007g0169 a0001c0069t0007g0169	1	77	0.0130	44	c.-33 others(55): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776079	C C	CTCGTTCT others(37): Show CTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG02155.hp2 NA18953.hp2 others(1): Show HG01943.hp2 HG02155.hp2 NA18953.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0002 a0001c0001t0024 a0001c0003t0002 others(1): Show a0001c0001t0002 a0001c0001t0024 a0001c0003t0002 a0001c0009t0020	a0001c0001t0002g0247 a0001c0001t0024g0185 a0001c0003t0002g0258 others(1): Show a0001c0001t0002g0247 a0001c0001t0024g0185 a0001c0003t0002g0258 a0001c0009t0020g0264	4	80	0.0500	44	c.-33 others(55): Show c.-3393_-3392insTCGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3211		chr16	TogoVar
PLCG2_chr16_81774291_81967685	81776081	C C	CGTTCTTT others(37): Show CGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0017 a0017	a0017c0043 a0017c0043	a0017c0043t0041 a0017c0043t0041	a0017c0043t0041g0323 a0017c0043t0041g0323	1	303	0.0033	44	c.-33 others(55): Show c.-3391_-3390insGTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTT	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding		3209		chr16	TogoVar
PLCXD1_chrX_276381_308356	281101	G G	GGGGTACG others(37): Show GGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGGGAAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0110 a0001c0001t0004g0110	1	104	0.0096	44	c.-60 others(53): Show c.-605_-604insGGGTACGTGCAGGGGGCAGCGGAGGCCGTGCAGGGG GAAGGGGA	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		279		chrX	TogoVar
PLD4_chr14_104919879_104938236	104934132	G G	GGCGACCC others(37): Show GGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGAGGGGACCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	424	0.0024	44	c.11 others(55): Show c.1168_*1169insGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGA GGGGACCCGC	PLD4	ENSG00000166428.14	transcript	ENST00000392593.9	protein_coding		897		chr14	TogoVar
PLD5_chr1_242077986_242529697	242394661	T T	TATATATG others(37): Show TATATATGTGTATATATGTGAACATATATGTGTATATATGTGAAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0032 a0003c0004t0032	a0003c0004t0032g0055 a0003c0004t0032g0055	1	142	0.0070	44	c.190 others(63): Show c.190-46463_190-46420dupGTTCACATATATACACATATATGTTC ACATATATACACATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLD5_chr1_242077986_242529697	242394998	T T	TATATATG others(37): Show TATATATGAATATATGAATATATATGAATATATATGTATATATGA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00621.hp2 others(17): Show HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG02027.hp1 HG02080.hp1 HG02135.hp1 HG02809.hp1 HG02895.hp1 HG03688.hp1 HG03710.hp1 HG04184.hp2 NA18942.hp1 NA18945.hp2 NA18950.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0020 a0001c0001t0027 a0001c0001t0030 a0001c0001t0057 a0001c0002t0003 a0001c0002t0009 a0001c0002t0072 a0001c0002t0084	a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0092 others(17): Show a0001c0001t0001g0022 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0002g0067 a0001c0001t0002g0100 a0001c0001t0002g0106 a0001c0001t0004g0056 a0001c0001t0005g0014 a0001c0001t0007g0042 a0001c0001t0010g0098 a0001c0001t0020g0029 a0001c0001t0027g0023 a0001c0001t0030g0091 a0001c0001t0057g0125 a0001c0002t0003g0152 a0001c0002t0003g0158 a0001c0002t0003g0159 a0001c0002t0009g0177 a0001c0002t0072g0175 a0001c0002t0084g0187	20	128	0.1563	44	c.190 others(63): Show c.190-46757_190-46756insTCATATATACATATATATTCATATAT ATTCATATATTCATATAT	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	1/9			chr1	TogoVar
PLEKHA5_chr12_19124733_19381400	19308897	G G	GCGCGTGC others(37): Show GCGCGTGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0035 a0001c0001t0021g0035	1	269	0.0037	44	c.203 others(63): Show c.2038-5916_2038-5915insGCGTGCGCGCGCACACACACACACAC ACACACACACACACACAC	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19308897	G G	GCGCGTGC others(37): Show GCGCGTGCGCGCGCGCGCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	269	0.0037	44	c.203 others(63): Show c.2038-5916_2038-5915insGCGTGCGCGCGCGCGCACACACACAC ACACACACACACACACAC	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	15/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	156	0.0064	44	c.-81 others(53): Show c.-815_-814insTATATATATATATATATATATATATATATTTTTTTT TTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHM1_chr17_45430900_45495721	45472164	C C	CGGTGAGA others(37): Show CGGTGAGAACATTTTACCCTTGAAATATACACTTCAAGAAATGCT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01167.hp1 others(4): Show HG01069.hp2 HG01071.hp2 HG01167.hp1 HG01169.hp1 HG02109.hp1 HG03209.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0089 others(2): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091	7	324	0.0216	44	c.923 others(61): Show c.923+2892_923+2935dupAGCATTTCTTGAAGTGTATATTTCAAGG GTAAAATGTTCTCACC	PLEKHM1	ENSG00000225190.12	transcript	ENST00000430334.8	protein_coding	4/11			chr17	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	345	0.0029	44	c.81+ others(59): Show c.81+7205_81+7206insGTGTGTGTATATATATATATATATATATAT ATATATATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLG_chr6_160697244_160759097	160748348	A A	AAGAGAAA others(37): Show AAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0108	1	327	0.0031	44	c.212 others(63): Show c.2126-3734_2126-3733insGAGAGAGAGAGAGAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLG_chr6_160697244_160759097	160748350	G G	GAGAAAGA others(37): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	193	0.0052	44	c.212 others(63): Show c.2126-3734_2126-3733insGAGAGAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	PLG	ENSG00000122194.20	transcript	ENST00000308192.14	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr6	TogoVar

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