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
PAPLN_chr14_73232506_73279623	73263901	T T	TTGACAGG others(27): Show TTGACAGGTGTGTGTGACAGCCCCCCTACCCCCTC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0013 a0006c0008t0001g0013	1	414	0.0024	34	c.286 others(51): Show c.2861+137_2861+170dupAGCCCCCCTACCCCCTCTGACAGGTGTG TGTGAC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPLN_chr14_73232506_73279623	73263931	C C	CCCTCTGA others(27): Show CCCTCTGACAGGTGTGTGTGACGGCCCCCCGACCT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03831.hp1 HG03942.hp1 others(5): Show HG03688.hp2 HG03831.hp1 HG03942.hp1 HG04204.hp2 NA18946.hp1 NA18963.hp2 NA19002.hp1 NA19068.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0012	a0001c0004 a0001c0006 a0002c0001 others(2): Show a0001c0004 a0001c0006 a0002c0001 a0007c0009 a0012c0017	a0001c0004t0001 a0001c0006t0004 a0002c0001t0001 others(2): Show a0001c0004t0001 a0001c0006t0004 a0002c0001t0001 a0007c0009t0001 a0012c0017t0001	a0001c0004t0001g0088 a0001c0006t0004g0034 a0001c0006t0004g0359 others(4): Show a0001c0004t0001g0088 a0001c0006t0004g0034 a0001c0006t0004g0359 a0002c0001t0001g0308 a0002c0001t0001g0328 a0007c0009t0001g0317 a0012c0017t0001g0112	8	401	0.0200	34	c.286 others(51): Show c.2861+171_2861+204dupGGCCCCCCGACCTCCTCTGACAGGTGTG TGTGAC	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176731684	T T	TACATATA others(27): Show TACATATATGTGTACATATATGTGTATATATACAC	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0085 a0001c0001t0024g0085	1	114	0.0088	34	c.379 others(53): Show c.3799-7922_3799-7889dupTGTGTATATATACACACATATATGTG TACATATA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	12/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0143 a0001c0001t0024g0143	1	194	0.0052	34	c.28- others(49): Show c.28-3087_28-3086insATATATATATATATATATATATATATGTGT GTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03831.hp2 HG04184.hp2 others(1): Show HG02717.hp1 HG03831.hp2 HG04184.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0055 a0001c0001t0001 a0001c0001t0002 a0001c0001t0055	a0001c0001t0001g0253 a0001c0001t0001g0292 a0001c0001t0002g0268 others(1): Show a0001c0001t0001g0253 a0001c0001t0001g0292 a0001c0001t0002g0268 a0001c0001t0055g0347	4	197	0.0203	34	c.28- others(49): Show c.28-3087_28-3086insATATATATATATATATATATATATGTGTGT GTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(27): Show ATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18956.hp2 NA18950.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0262 a0001c0001t0012g0249 a0001c0001t0002g0262 a0001c0001t0012g0249	2	195	0.0103	34	c.28- others(49): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT GTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(27): Show ATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	194	0.0052	34	c.28- others(49): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT GTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(27): Show ATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03669.hp1 NA19043.hp1 HG01496.hp1 HG03669.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0025 a0001c0002t0006 a0001c0001t0001 a0001c0001t0025 a0001c0002t0006	a0001c0001t0001g0279 a0001c0001t0025g0308 a0001c0002t0006g0095 a0001c0001t0001g0279 a0001c0001t0025g0308 a0001c0002t0006g0095	3	196	0.0153	34	c.28- others(49): Show c.28-3087_28-3086insATATATATATATATATATGTGTGTGTGTGT GTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(27): Show ATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	194	0.0052	34	c.28- others(49): Show c.28-3087_28-3086insATATATATATATATATGTGTGTGTGTGTGT GTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02293.hp2 NA18939.hp1 others(4): Show HG02004.hp2 HG02293.hp2 NA18939.hp1 NA18994.hp1 NA18994.hp2 NA19054.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010	a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0286 others(4): Show a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0286 a0001c0001t0003g0063 a0001c0001t0003g0127 a0001c0001t0008g0332 a0001c0001t0010g0024	7	105	0.0667	34	c.381 others(47): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02630.hp1 HG02818.hp2 others(1): Show HG02559.hp1 HG02630.hp1 HG02818.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0047 others(1): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0047 a0001c0001t0049	a0001c0001t0005g0323 a0001c0001t0007g0109 a0001c0001t0047g0163 others(1): Show a0001c0001t0005g0323 a0001c0001t0007g0109 a0001c0001t0047g0163 a0001c0001t0049g0157	4	108	0.0370	34	c.881 others(51): Show c.881-2412_881-2411insCACACACACACACACACACACACACACA CACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR3_chr4_78906878_78944438	78943217	G G	GTGCCTCT others(27): Show GTGCCTCTTGAAGTGGCAGGTTGGGGAACTGAACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	332	0.0030	34	c.-39 others(45): Show c.-3994_-3993insAGTTCAGTTCCCCAACCTGCCACTTCAAGAGGCA	PAQR3	ENSG00000163291.14	transcript	ENST00000512733.5	protein_coding		3780		chr4	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTTTCTTT others(27): Show CTTTCTTTCCTTCTTTCTTTCTTTCTTCCTTTCTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	170	0.0059	34	c.-27 others(53): Show c.-277+1882_-277+1883insTTCTTTCCTTCTTTCTTTCTTTCTTC CTTTCTTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARD3B_chr2_204540475_205625162	204883455	A A	ATATATAT others(27): Show ATATATATAAAATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0029 a0002c0002t0004g0029	1	10	0.1000	34	c.223 others(53): Show c.223-81696_223-81695insATATATAAAATATATATATATATATA TTTTTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205054426	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0054 a0002c0008t0001g0054	1	48	0.0208	34	c.504 others(51): Show c.504+6747_504+6748insATATATATATATATATATATATTTATAT ATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0064 a0001c0004t0003g0064	1	43	0.0233	34	c.222 others(53): Show c.222+29501_222+29502insGTGTATATATATATATATATATATAT ATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80195544	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0330 a0001c0002t0001g0330	1	379	0.0026	34	c.295 others(51): Show c.295+7165_295+7166insATATATATATATATATATATATATATAT ATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG03654.hp2 HG04115.hp2 others(2): Show HG02056.hp1 HG03654.hp2 HG04115.hp2 NA18982.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006	a0001c0001t0005g0250 a0001c0002t0001g0278 a0001c0002t0001g0300 others(2): Show a0001c0001t0005g0250 a0001c0002t0001g0278 a0001c0002t0001g0300 a0001c0002t0001g0324 a0001c0002t0006g0270	5	186	0.0269	34	c.295 others(51): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01257.hp2 HG01358.hp1 others(1): Show HG00639.hp1 HG01257.hp2 HG01358.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0008 a0001c0001t0001g0184 a0001c0002t0001g0283 a0001c0001t0001g0008 a0001c0001t0001g0184 a0001c0002t0001g0283	4	362	0.0110	34	c.295 others(51): Show c.295+7137_295+7138insGTATATATATATATATATATATATATAT ATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	7	0.1429	34	c.148 others(55): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP10_chr8_143972158_143991460	143981355	A A	ATGGTGGT others(27): Show ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0237 a0002c0002t0002g0237	1	221	0.0045	34	c.255 others(53): Show c.2556+1576_2556+1577insCCATCACCTTCACCACTCACTGTCGT CACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981469	G G	GTGGTGAT others(27): Show GTGGTGATGGTGGTGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0177 a0004c0004t0001g0177	1	200	0.0050	34	c.255 others(53): Show c.2556+1462_2556+1463insTCACCTTCACCACTCACTGTCACCAC CATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981475	A A	ATGGTGGT others(27): Show ATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	362	0.0028	34	c.255 others(53): Show c.2556+1456_2556+1457insCCATCACCTTCACCACTCACTGTCGT CACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP14_chr3_122675839_122735840	122725204	A A	AAGGCGCT others(27): Show AAGGCGCTCACTTCCCATACGGGGCGGTTGGGCAG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	364	0.0027	34	c.494 others(53): Show c.4942-2593_4942-2560dupCATACGGGGCGGTTGGGCAGAGGCGC TCACTTCC	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65273276	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18956.hp2 HG01109.hp2 NA18956.hp2	a0001 a0005 a0001 a0005	a0001c0002 a0005c0006 a0001c0002 a0005c0006	a0001c0002t0001 a0005c0006t0001 a0001c0002t0001 a0005c0006t0001	a0001c0002t0001g0082 a0005c0006t0001g0053 a0001c0002t0001g0082 a0005c0006t0001g0053	2	78	0.0256	34	c.175 others(51): Show c.175-2205_175-2204insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	1/5			chr15	TogoVar
PARP16_chr15_65253099_65291883	65290933	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG02818.hp2 HG00733.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0109 a0001c0002t0001g0003 a0001c0001t0001g0109 a0001c0002t0001g0003	2	57	0.0351	34	c.-45 others(45): Show c.-4508_-4507insATATATATATATATATATATATATATATATATAT	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding		4051		chr15	TogoVar
PARP4_chr13_24415931_24517778	24455506	T T	TATATATG others(27): Show TATATATGTATATATATATATATATATATATCACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0033 a0033	a0033c0036 a0033c0036	a0033c0036t0001 a0033c0036t0001	a0033c0036t0001g0036 a0033c0036t0001g0036	1	331	0.0030	34	c.256 others(51): Show c.2563-295_2563-294insTGTGATATATATATATATATATATATAC ATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0019 a0001c0001t0005g0019	1	157	0.0064	34	c.184 others(51): Show c.184+3930_184+3963dupTATATATATATATATATATATATATATA TATATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754150	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0292 a0001c0001t0001g0292	1	271	0.0037	34	c.184 others(51): Show c.184+3963_184+3964insTATATATATATATATATATATATATATA TATACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PASK_chr2_241101099_241154472	241120492	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0211 a0004c0004t0001g0211	1	336	0.0030	34	c.307 others(53): Show c.3072+2239_3072+2240insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PATJ_chr1_61737480_62168915	61871392	T T	TATATATA others(27): Show TATATATATGTGTATATATATACATATATATGTAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0025 a0025	a0025c0115 a0025c0115	a0025c0115t0002 a0025c0115t0002	a0025c0115t0002g0008 a0025c0115t0002g0008	1	156	0.0064	34	c.283 others(53): Show c.2836-3833_2836-3800dupTATACATATATATGTACATATATATG TGTATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61871437	G G	GTATATAC others(27): Show GTATATACACATATATATGTACATATATATGTATA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0072 a0005c0072	a0005c0072t0024 a0005c0072t0024	a0005c0072t0024g0095 a0005c0072t0024g0095	1	100	0.0100	34	c.283 others(53): Show c.2836-3788_2836-3787insTACATATATATGTATATATATACACA TATATATG	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	20/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00140.hp2 HG00323.hp2	a0001 a0005 a0001 a0005	a0001c0058 a0005c0122 a0001c0058 a0005c0122	a0001c0058t0003 a0005c0122t0003 a0001c0058t0003 a0005c0122t0003	a0001c0058t0003g0053 a0005c0122t0003g0129 a0001c0058t0003g0053 a0005c0122t0003g0129	2	6	0.3333	34	c.313 others(53): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61952253	T T	TGAGAGAG others(27): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0012 a0012	a0012c0005 a0012c0005	a0012c0005t0002 a0012c0005t0002	a0012c0005t0002g0121 a0012c0005t0002g0121	1	42	0.0238	34	c.367 others(55): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTATAT others(27): Show TTTTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0030 a0030	a0030c0136 a0030c0136	a0030c0136t0010 a0030c0136t0010	a0030c0136t0010g0056 a0030c0136t0010g0056	1	98	0.0102	34	c.386 others(53): Show c.3867+7619_3867+7620insTTATATATATATATATATATATATAT ATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTTTAT others(27): Show TTTTTTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02647.hp1 HG02258.hp2 HG02647.hp1	a0001 a0038 a0001 a0038	a0001c0047 a0038c0087 a0001c0047 a0038c0087	a0001c0047t0023 a0038c0087t0007 a0001c0047t0023 a0038c0087t0007	a0001c0047t0023g0118 a0038c0087t0007g0027 a0001c0047t0023g0118 a0038c0087t0007g0027	2	99	0.0202	34	c.386 others(53): Show c.3867+7619_3867+7620insTTTTATATATATATATATATATATAT ATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0052 a0003c0003t0001g0052	1	55	0.0182	34	c.437 others(53): Show c.4378-2278_4378-2277insGTATATATATATATATATATATATAT ATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62144777	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0005 a0005	a0005c0122 a0005c0122	a0005c0122t0003 a0005c0122t0003	a0005c0122t0003g0129 a0005c0122t0003g0129	1	59	0.0169	34	c.527 others(53): Show c.5272-3488_5272-3487insTATATATATATATATATATATATATA TATATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632737	C C	CTATATAT others(27): Show CTATATATATCAATATATATATCATATATATATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	248	0.0040	34	c.56 others(45): Show c.5652_*5653insCTATATATATATGATATATATATTGATATATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3978		chr11	TogoVar
PATZ1_chr22_31320804_31351346	31321838	T T	TTATAGAC others(27): Show TTATAGACACTTATTTATGTGTATGTCCCATGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	383	0.0026	34	c.50 others(45): Show c.5052_*5053insGGACATGGGACATACACATAAATAAGTGTCTATA	PATZ1	ENSG00000100105.18	transcript	ENST00000266269.10	protein_coding		3965		chr22	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(27): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp2 NA19081.hp1 NA18968.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0025 a0001c0001t0001g0003 a0001c0001t0001g0025	2	77	0.0260	34	c.-42 others(45): Show c.-4226_-4193dupGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PBRM1_chr3_52540367_52690913	52612258	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0260 a0001c0003t0001g0260	1	136	0.0074	34	c.197 others(53): Show c.1970-2304_1970-2303insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	17/31			chr3	TogoVar
PBRM1_chr3_52540367_52690913	52636757	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	109	0.0092	34	c.108 others(53): Show c.1088-1943_1088-1942insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	PBRM1	ENSG00000163939.19	transcript	ENST00000707071.1	protein_coding	11/31			chr3	TogoVar
PBX3_chr9_125742373_125972377	125899238	A A	AATATACA others(27): Show AATATACATATGTATATATATTTATATATAAATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	292	0.0034	34	c.275 others(53): Show c.275-16446_275-16413dupTATACATATGTATATATATTTATATA TAAATATA	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PBX3_chr9_125742373_125972377	125899274	C C	CATATATG others(27): Show CATATATGTATATATTTTTATATAAATATATACAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03209.hp1 HG02647.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0130 a0001c0001t0001g0131	2	292	0.0068	34	c.275 others(53): Show c.275-16408_275-16407insATGTATATATTTTTATATAAATATAT ACATATAT	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45944093	C C	CCCAGGTG others(27): Show CCCAGGTGAGGAACACTTCAGGTGGGGGGAGCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG03471.hp1 HG01243.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0015 a0001c0001t0003 a0001c0001t0015	a0001c0001t0003g0019 a0001c0001t0015g0021 a0001c0001t0003g0019 a0001c0001t0015g0021	2	254	0.0079	34	c.23 others(45): Show c.2387_*2388insCCAGGTGAGGAACACTTCAGGTGGGGGGAGCACT	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding		1644		chr21	TogoVar
PCCA_chr13_100084093_100535435	100341957	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	64	0.0156	34	c.164 others(53): Show c.1643+1723_1643+1724insATATATATATATATATATATATATAT ATATATAT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136264440	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	234	0.0043	34	c.543 others(51): Show c.543+2376_543+2377insGTATATATATATATATATATATATATAT ATATAT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	91945048	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0038 a0001c0001t0007g0038	1	63	0.0159	34	c.303 others(55): Show c.3033+65795_3033+65796insATATATATATATATATATATATAT ATATATATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH11X_chrX_91774375_92628230	92132623	A A	ATATATAT others(27): Show ATATATATATATGTATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01358.hp1 NA18977.hp1 HG01358.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0027 a0001c0001t0004 a0001c0001t0027	a0001c0001t0004g0096 a0001c0001t0027g0068 a0001c0001t0004g0096 a0001c0001t0027g0068	2	149	0.0134	34	c.303 others(55): Show c.3034-68734_3034-68701dupATATATATATATATATGTATATAT ATATGTATAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar

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