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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp1 HG00558.hp2 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0279 a0001c0001t0001g0185 a0001c0001t0001g0279	2	18	0.1111	29	c.125 others(48): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10						chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	116	0.0086	29	c.-21 others(48): Show c.-21-36544_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14						chr11	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(22): Show ATATATATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02451.hp2 HG01934.hp1 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0006 a0001c0002t0001 a0001c0003t0006	a0001c0002t0001g0004 a0001c0003t0006g0069 a0001c0002t0001g0004 a0001c0003t0006g0069	2	101	0.0198	29	c.-22 others(48): Show c.-22+11538_-22+11539insTATATATATATATATATATATATAAT TAC		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14						chr3	TogoVar
PAK2_chr3_196734857_196837647	196807860	G G	GACAAACA others(22): Show GACAAACAGAAAAAGAAGACTAAGATGACA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02970.hp1 HG02970.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0010 a0003c0006t0010	a0003c0006t0010g0104 a0003c0006t0010g0104	1	176	0.0057	29	c.656 others(36): Show c.656_684dupACAAACAGAAAAAGAAGACTAAGATGACA	p.Asp others(5): Show p.Asp229fs	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/15	1007/6139	685/1575	229/524		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196811387	T T	TTCCTTCC others(22): Show TTCCTTCCCTTCCTTCTCTTCCTTCTTCCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0072 a0001c0001t0069g0072	1	176	0.0057	29	c.773 others(44): Show c.773+735_773+736insCCTTCCCTTCCTTCTCTTCCTTCTTCCCT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14					INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	9	0.1111	29	c.50 others(40): Show c.5067_*5068insAAAATATATATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					826		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	9	0.1111	29	c.50 others(40): Show c.5067_*5068insTATATATATATATATATATATATATATAT		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					826		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0135 a0001c0002t0032g0135	1	129	0.0078	29	c.58 others(40): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding					1606		chr3	TogoVar
PAK5_chr20_9532370_9844076	9766359	A A	ATATATAT others(22): Show ATATATATATATTCAAGCAGAATATATATG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp2 HG01515.hp2 others(3): Show HG00280.hp1 HG00642.hp2 HG01515.hp2 HG02257.hp1 HG02683.hp1 HG03098.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0001 a0002c0007 a0001c0005 a0002c0001 a0002c0007	a0001c0005t0008 a0002c0001t0001 a0002c0001t0014 others(1): Show a0001c0005t0008 a0002c0001t0001 a0002c0001t0014 a0002c0007t0005	a0001c0005t0008g0140 a0002c0001t0001g0030 a0002c0001t0001g0141 others(3): Show a0001c0005t0008g0140 a0002c0001t0001g0030 a0002c0001t0001g0141 a0002c0001t0001g0187 a0002c0001t0014g0086 a0002c0007t0005g0149	6	203	0.0296	29	c.-16 others(50): Show c.-161-54953_-161-54925dupCATATATATTCTGCTTGAATATAT ATATA		PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9						chr20	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	76	0.0132	29	c.-39 others(40): Show c.-3981_-3980insAAAAAAAAAAATATATATATATATATATA		PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding					3828		chr16	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02451.hp2 NA18612.hp1 HG00423.hp1 HG02451.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0202 a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0202	3	131	0.0229	29	c.583 others(44): Show c.583-962_583-961insAAAAAAAAATATATATATATATATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0047 a0001c0001t0030g0047	1	129	0.0078	29	c.583 others(44): Show c.583-962_583-961insAAAAAAATATATATATATATATATATATA		PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG03492.hp2 NA18939.hp2 others(2): Show HG02074.hp2 HG03492.hp2 NA18939.hp2 NA18946.hp1 NA19076.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0024 a0001c0002t0041 others(1): Show a0001c0002t0007 a0001c0002t0024 a0001c0002t0041 a0001c0002t0073	a0001c0002t0007g0287 a0001c0002t0007g0312 a0001c0002t0024g0321 others(2): Show a0001c0002t0007g0287 a0001c0002t0007g0312 a0001c0002t0024g0321 a0001c0002t0041g0366 a0001c0002t0073g0350	5	287	0.0174	29	c.118 others(46): Show c.118-3368_118-3367insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr7	TogoVar
PAN3_chr13_28133545_28300335	28257687	T T	TATAAATA others(22): Show TATAAATATATATTATATATATTATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01069.hp1 HG01071.hp2 others(8): Show HG00735.hp1 HG01069.hp1 HG01071.hp2 HG01081.hp2 HG01192.hp2 HG02055.hp1 HG02602.hp2 HG03239.hp1 HG03831.hp1 HG03942.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0006 a0002c0005t0001 a0001c0001t0004 a0001c0001t0006 a0002c0005t0001	a0001c0001t0004g0052 a0001c0001t0006g0013 a0001c0001t0006g0014 others(8): Show a0001c0001t0004g0052 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0017 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0053 a0001c0001t0006g0132 a0001c0001t0006g0133 a0002c0005t0001g0131	11	247	0.0445	29	c.124 others(48): Show c.1248+1151_1248+1179dupAAATATATATTATATATATTATATAT AAT		PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr13	TogoVar
PAN3_chr13_28133545_28300335	28257690	A A	AAATATAT others(22): Show AAATATATATTATATATATTATATATAATT	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	250	0.0040	29	c.124 others(48): Show c.1248+1169_1248+1197dupTTATATATAATTAATATATATTATAT ATA		PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr13	TogoVar
PAPSS1_chr4_107608666_107725234	107621608	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0085 a0001c0003t0002g0085	1	88	0.0114	29	c.173 others(48): Show c.1737-7250_1737-7222dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA		PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding	11/11						chr4	TogoVar
PAQR5_chr15_69293912_69412780	69322832	A A	AGAAGAAG others(22): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAGAG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	221	0.0045	29	c.-27 others(50): Show c.-276-14504_-276-14503insAGAAGAAGAAGAAGAAGAAGAGAG GAAGA		PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	130	0.0077	29	c.-30 others(40): Show c.-3007_-3006insATATATATATATATATATATATATTTTTT		PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding					2678		chr1	TogoVar
PARD3B_chr2_204540475_205625162	204883455	A A	ATATAAAA others(22): Show ATATAAAATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0011 a0008c0014t0011	a0008c0014t0011g0026 a0008c0014t0011g0026	1	10	0.1000	29	c.223 others(48): Show c.223-81696_223-81695insATAAAATATATATATATATATATTTT TTT		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205054436	A A	ATATATAT others(22): Show ATATATATATATATATATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0025 a0006c0007t0001g0025	1	37	0.0270	29	c.504 others(46): Show c.504+6747_504+6748insATATATATATATATATTTATATATATAT T		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380271	T T	TTATATAT others(22): Show TTATATATAATATATAAAGAATATATATTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01884.hp1 others(5): Show HG00609.hp1 HG01109.hp1 HG01884.hp1 HG02055.hp2 HG02965.hp2 HG03471.hp1 NA18522.hp1 NA19030.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0008 a0002c0016 others(4): Show a0001c0001 a0002c0008 a0002c0016 a0002c0021 a0003c0005 a0003c0009 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0002c0008t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0002c0008t0004 a0002c0016t0002 a0002c0021t0001 a0003c0005t0001 a0003c0009t0002 a0003c0018t0002	a0001c0001t0001g0053 a0001c0001t0002g0033 a0002c0008t0004g0028 others(5): Show a0001c0001t0001g0053 a0001c0001t0002g0033 a0002c0008t0004g0028 a0002c0016t0002g0037 a0002c0021t0001g0012 a0003c0005t0001g0010 a0003c0009t0002g0034 a0003c0018t0002g0038	8	44	0.1818	29	c.263 others(50): Show c.2631-20736_2631-20735insTAATATATAAAGAATATATATTAT ATATA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380303	T T	TAATATAT others(22): Show TAATATATAAAGAATATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02647.hp1 others(8): Show HG02055.hp1 HG02145.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03486.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0015 a0002c0002 others(5): Show a0001c0001 a0001c0015 a0002c0002 a0002c0006 a0003c0005 a0004c0012 a0006c0007 a0007c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0015t0017 a0002c0002t0001 a0002c0002t0013 a0002c0006t0007 a0003c0005t0001 a0004c0012t0003 a0006c0007t0001 a0007c0028t0003	a0001c0001t0001g0042 a0001c0001t0002g0019 a0001c0001t0010g0050 others(8): Show a0001c0001t0001g0042 a0001c0001t0002g0019 a0001c0001t0010g0050 a0001c0015t0017g0015 a0002c0002t0001g0027 a0002c0002t0013g0022 a0002c0006t0007g0018 a0003c0005t0001g0024 a0004c0012t0003g0004 a0006c0007t0001g0025 a0007c0028t0003g0007	11	19	0.5789	29	c.263 others(50): Show c.2631-20710_2631-20709insAATATATAAAGAATATATATTATA TATAA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22						chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380684	C C	CATATATA others(22): Show CATATATACTATATATAAAGAATATACATT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02647.hp2 others(5): Show HG02055.hp1 HG02145.hp2 HG02647.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0006c0007 a0007c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001 a0002c0002t0013 a0003c0005t0001 a0006c0007t0001 a0007c0028t0003	a0001c0001t0001g0042 a0001c0001t0002g0019 a0001c0001t0010g0050 others(5): Show a0001c0001t0001g0042 a0001c0001t0002g0019 a0001c0001t0010g0050 a0002c0002t0001g0027 a0002c0002t0013g0022 a0003c0005t0001g0024 a0006c0007t0001g0025 a0007c0028t0003g0007	8	48	0.1667	29	c.263 others(50): Show c.2631-20274_2631-20246dupCATTATATATACTATATATAAAGA ATATA		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380912	A A	AAGAATAT others(22): Show AAGAATATATTATATATAATATATAATAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	54	0.0185	29	c.263 others(50): Show c.2631-20092_2631-20091insTATATATAATATATAATAAGAGAA TATAT		PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34145221	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0056 a0001c0002t0003g0056	1	32	0.0313	29	c.342 others(50): Show c.3420-13639_3420-13638insAAATATATATATATATATATATAT ATATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34605524	C C	CTATATAT others(22): Show CTATATATATCTCCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	71	0.0141	29	c.223 others(48): Show c.223-88394_223-88366dupTATATATATATATATAGGAGATATAT ATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34605541	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0031 a0001c0002t0007g0031	1	98	0.0102	29	c.223 others(48): Show c.223-88383_223-88382insGGAGATATATATATATATATATATAT ATA		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARD3_chr10_34104561_34820296	34666796	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATGTATATATATATAT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03486.hp1 HG01167.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0020 a0001c0001t0001 a0001c0002t0020	a0001c0001t0001g0061 a0001c0002t0020g0060 a0001c0001t0001g0061 a0001c0002t0020g0060	2	64	0.0313	29	c.222 others(48): Show c.222+29521_222+29522insATATATATATATACATATATATTTTT TTT		PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24						chr10	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA19066.hp1 NA18968.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0006 a0001c0001t0008	a0001c0001t0006g0013 a0001c0001t0008g0162 a0001c0001t0006g0013 a0001c0001t0008g0162	2	8	0.2500	29	c.148 others(50): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23						chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	213	0.0047	29	c.-33 others(40): Show c.-3319_-3318insAAAAAAAAAAAATATATATATATATATAT		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding					3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(22): Show AAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0315 a0001c0001t0001g0315	1	213	0.0047	29	c.-33 others(40): Show c.-3319_-3318insAAAAAAAAAATATATATATATATATATAT		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding					3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	213	0.0047	29	c.-33 others(40): Show c.-3319_-3318insAAAAAATATATATATATATATATATATAT		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding					3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0008 a0004c0009t0008	a0004c0009t0008g0282 a0004c0009t0008g0282	1	213	0.0047	29	c.-33 others(40): Show c.-3319_-3318insAATATATATATATATATATATATATATAT		PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding					3273		chr3	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	77	0.0130	29	c.175 others(46): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5						chr15	TogoVar
PARP2_chr14_20338635_20362904	20347398	A A	ATATATAT others(22): Show ATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	257	0.0039	29	c.324 others(44): Show c.324+486_324+487insATATATATATATATTTTTTTTTTTTTTTT		PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15					INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP6_chr15_72236181_72277554	72277168	C C	CGCCTGGC others(22): Show CGCCTGGCTTCCATCCTGTACTTCTTGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02145.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0177 a0001c0001t0001g0051 a0001c0001t0001g0177	2	394	0.0051	29	c.-52 others(40): Show c.-5236_-5235insACTCAAGAAGTACAGGATGGAAGCCAGGC		PARP6	ENSG00000137817.17	transcript	ENST00000569795.6	protein_coding					4615		chr15	TogoVar
PARP9_chr3_122522924_122569300	122539570	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0232 a0002c0001t0001g0232	1	429	0.0023	29	c.176 others(46): Show c.1765+901_1765+902insGAAAGAAAGAAAGAAAGAAAGAAAGAAA G		PARP9	ENSG00000138496.17	transcript	ENST00000682323.1	protein_coding	8/10						chr3	TogoVar
PARVB_chr22_44019302_44177939	44034334	G G	GTTTGAGA others(22): Show GTTTGAGATGGGGGTCTTTATACATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	330	0.0030	29	c.112 others(46): Show c.112+9914_112+9942dupTTGAGATGGGGGTCTTTATACATATATA T		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44112701	A A	AAAGCCCT others(22): Show AAAGCCCTGTACCAACACAGATAGATTGTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(37): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00558.hp2 HG00609.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01175.hp1 HG01243.hp1 HG01516.hp1 HG01884.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03486.hp2 HG03490.hp1 HG03579.hp1 HG03579.hp2 HG03834.hp2 HG04204.hp2 NA18522.hp1 NA18944.hp2 NA18977.hp1 NA18993.hp1 NA19000.hp1 NA19004.hp2 NA19011.hp1 NA19057.hp2 NA19081.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008 a0001c0025 a0001c0028 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0032 a0001c0001t0040 a0001c0001t0059 a0001c0001t0071 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0015 a0001c0002t0017 a0001c0002t0022 a0001c0002t0062 a0001c0004t0069 a0001c0008t0002 a0001c0025t0013 a0001c0028t0013 a0002c0003t0001 a0002c0003t0026 a0003c0006t0004 a0003c0006t0058	a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0282 others(37): Show a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0282 a0001c0001t0001g0303 a0001c0001t0002g0049 a0001c0001t0002g0206 a0001c0001t0002g0291 a0001c0001t0003g0252 a0001c0001t0005g0080 a0001c0001t0005g0112 a0001c0001t0005g0113 a0001c0001t0007g0008 a0001c0001t0008g0086 a0001c0001t0008g0150 a0001c0001t0008g0193 a0001c0001t0009g0087 a0001c0001t0009g0100 a0001c0001t0032g0151 a0001c0001t0040g0186 a0001c0001t0059g0329 a0001c0001t0071g0330 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0071 a0001c0002t0001g0299 a0001c0002t0002g0138 a0001c0002t0006g0155 a0001c0002t0015g0054 a0001c0002t0017g0074 a0001c0002t0022g0202 a0001c0002t0062g0167 a0001c0004t0069g0213 a0001c0008t0002g0032 a0001c0025t0013g0099 a0001c0028t0013g0174 a0002c0003t0001g0051 a0002c0003t0026g0331 a0003c0006t0004g0114 a0003c0006t0004g0127 a0003c0006t0058g0105	40	327	0.1223	29	c.274 others(46): Show c.274-6336_274-6335insAGCCCTGTACCAACACAGATAGATTGTT A		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113351	A A	AAGGCCCT others(22): Show AAGGCCCTGCACCAACACAGATACATTGTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(70): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01993.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03486.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18964.hp2 NA18967.hp2 NA18983.hp1 NA19010.hp2 NA19011.hp2 NA19057.hp1 NA19066.hp1 NA19067.hp2 NA19081.hp2 NA19086.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0023 a0001c0024 a0001c0025 a0001c0028 a0002c0003 a0003c0006 a0004c0009 a0005c0018 a0006c0032 a0009c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0032 a0001c0001t0040 a0001c0001t0049 a0001c0001t0053 a0001c0001t0059 a0001c0001t0065 a0001c0001t0067 a0001c0001t0070 a0001c0002t0001 a0001c0002t0005 a0001c0002t0007 a0001c0002t0009 a0001c0002t0012 a0001c0002t0017 a0001c0002t0020 a0001c0002t0021 a0001c0002t0060 a0001c0005t0004 a0001c0005t0009 a0001c0007t0004 a0001c0007t0043 a0001c0008t0002 a0001c0023t0055 a0001c0024t0001 a0001c0025t0013 a0001c0028t0013 a0002c0003t0001 a0002c0003t0011 a0002c0003t0021 a0003c0006t0004 a0004c0009t0001 a0004c0009t0007 a0005c0018t0037 a0006c0032t0048 a0009c0017t0001	a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0050 others(70): Show a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0050 a0001c0001t0001g0164 a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0314 a0001c0001t0002g0171 a0001c0001t0002g0219 a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0233 a0001c0001t0003g0255 a0001c0001t0004g0154 a0001c0001t0004g0203 a0001c0001t0005g0170 a0001c0001t0005g0260 a0001c0001t0006g0224 a0001c0001t0006g0276 a0001c0001t0007g0082 a0001c0001t0007g0215 a0001c0001t0007g0254 a0001c0001t0007g0265 a0001c0001t0008g0086 a0001c0001t0008g0150 a0001c0001t0008g0193 a0001c0001t0009g0087 a0001c0001t0009g0100 a0001c0001t0010g0178 a0001c0001t0011g0052 a0001c0001t0012g0183 a0001c0001t0032g0151 a0001c0001t0040g0186 a0001c0001t0049g0308 a0001c0001t0053g0210 a0001c0001t0059g0329 a0001c0001t0065g0015 a0001c0001t0067g0033 a0001c0001t0070g0225 a0001c0002t0001g0010 a0001c0002t0005g0126 a0001c0002t0005g0156 a0001c0002t0005g0200 a0001c0002t0005g0201 a0001c0002t0007g0005 a0001c0002t0009g0322 a0001c0002t0012g0078 a0001c0002t0017g0074 a0001c0002t0020g0073 a0001c0002t0021g0177 a0001c0002t0060g0023 a0001c0005t0004g0101 a0001c0005t0009g0072 a0001c0007t0004g0088 a0001c0007t0043g0094 a0001c0008t0002g0032 a0001c0023t0055g0083 a0001c0024t0001g0029 a0001c0025t0013g0099 a0001c0028t0013g0174 a0002c0003t0001g0051 a0002c0003t0011g0284 a0002c0003t0021g0025 a0003c0006t0004g0127 a0004c0009t0001g0258 a0004c0009t0007g0212 a0005c0018t0037g0103 a0006c0032t0048g0159 a0009c0017t0001g0182	73	328	0.2226	29	c.274 others(46): Show c.274-5686_274-5685insGGCCCTGCACCAACACAGATACATTGTT A		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113351	A A	AAGGCCCT others(22): Show AAGGCCCTGCACCAACACAGATACGTTGTT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	256	0.0039	29	c.274 others(46): Show c.274-5686_274-5685insGGCCCTGCACCAACACAGATACGTTGTT A		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PARVB_chr22_44019302_44177939	44113351	A A	AAGGCCCT others(22): Show AAGGCCCTGCACCAACACAGATACTTTGTT	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	256	0.0039	29	c.274 others(46): Show c.274-5686_274-5685insGGCCCTGCACCAACACAGATACTTTGTT A		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151562875	G G	GGGGCGAG others(22): Show GGGGCGAGGGGGGCGGGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0029 a0001c0002t0002g0029	1	219	0.0046	29	c.-99 others(38): Show c.-992_-991insGGGCGAGGGGGGCGGGGGGGGCGGGGGGC		PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding					799		chrX	TogoVar
PATJ_chr1_61737480_62168915	62144777	A A	AAAAATAT others(22): Show AAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0094 a0002c0094	a0002c0094t0003 a0002c0094t0003	a0002c0094t0003g0003 a0002c0094t0003g0003	1	59	0.0169	29	c.527 others(48): Show c.5272-3506_5272-3505insAAATATATATATATATATATATATAT ATA		PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43					INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(22): Show TATTCCTATTCCTATTCCTATTCCTATTCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0243 a0002c0002t0005g0243	1	153	0.0065	29	c.517 others(48): Show c.517-18675_517-18674insGGAATAGGAATAGGAATAGGAATAGG AAT		PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6						chr12	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18946.hp1 NA18944.hp2 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0009 a0001c0002t0001 a0001c0002t0009	a0001c0002t0001g0126 a0001c0002t0009g0299 a0001c0002t0001g0126 a0001c0002t0009g0299	2	110	0.0182	29	c.108 others(48): Show c.1088-1971_1088-1943dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31						chr3	TogoVar
PBX3_chr9_125742373_125972377	125793366	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0028	1	121	0.0083	29	c.274 others(48): Show c.274+44743_274+44744insTATATATATATATATATATATATATA TAT		PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8						chr9	TogoVar
PBX4_chr19_19556713_19623687	19568348	T T	TGTATCCC others(22): Show TGTATCCCTCAGGGAGCTCACACTCTATCA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	374	0.0027	29	c.768 others(46): Show c.768+1072_768+1100dupTGATAGAGTGTGAGCTCCCTGAGGGATA C		PBX4	ENSG00000105717.14	transcript	ENST00000251203.14	protein_coding	5/7						chr19	TogoVar
PCBP3_chr21_45638725_45947450	45646053	T T	TCTCTCTC others(22): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	255	0.0039	29	c.-27 others(48): Show c.-279+2185_-279+2186insCTCTCTCTCTCTCTCTCTCTCTCTCT CTC		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17						chr21	TogoVar
PCBP3_chr21_45638725_45947450	45646087	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	288	0.0035	29	c.-27 others(48): Show c.-279+2240_-279+2241insCTCTCTCTTCTCTCTCTCTCTCTCTC TCT		PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr21	TogoVar

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