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
PALD1_chr10_70473767_70573450	70508854	T T	TGTGTGTG others(33): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG04228.hp1 HG01074.hp2 HG04228.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0029 a0001c0001t0001 a0004c0005t0029	a0001c0001t0001g0090 a0004c0005t0029g0232 a0001c0001t0001g0090 a0004c0005t0029g0232	2	279	0.0072	40	c.-29 others(59): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTGCGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168625500	G G	GAGATAGA others(33): Show GAGATAGATAGATAGATAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG01081.hp1 others(13): Show HG00597.hp1 HG00735.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01952.hp1 HG02559.hp2 HG03942.hp1 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0006 a0002c0007 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0002t0003 a0001c0002t0010 a0001c0004t0002 a0001c0004t0005 a0002c0003t0001 a0002c0003t0005 a0002c0006t0006 a0002c0007t0001 a0002c0007t0004 a0002c0012t0019	a0001c0001t0001g0013 a0001c0001t0001g0074 a0001c0001t0002g0138 others(13): Show a0001c0001t0001g0013 a0001c0001t0001g0074 a0001c0001t0002g0138 a0001c0001t0004g0059 a0001c0001t0008g0009 a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0010g0135 a0001c0004t0002g0119 a0001c0004t0005g0148 a0002c0003t0001g0037 a0002c0003t0005g0120 a0002c0006t0006g0155 a0002c0007t0001g0025 a0002c0007t0004g0028 a0002c0012t0019g0132	16	126	0.1270	40	c.909 others(59): Show c.909-42685_909-42684insGATAGATAGATAGATAGATAGATAGA TAGATAGATAGATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0020 a0001c0004t0003g0020	1	84	0.0119	40	c.909 others(59): Show c.909-42672_909-42671insATATATATATATATATATATATATAT ATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	61	0.0164	40	c.583 others(59): Show c.583-59616_583-59615insTATATATATATATATATATATATATA TATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110096426	A A	AATTTATT others(33): Show AATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0172 a0003c0003t0001g0172	1	176	0.0057	40	c.583 others(59): Show c.583-39678_583-39677insTATTTATTTATTTATTTATTTATTTA TTTATTTATTTATT	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(33): Show AAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0171 a0001c0006t0002g0171	1	129	0.0078	40	c.583 others(55): Show c.583-962_583-961insAAAAAAAAAATATATATATATATATATATA TATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAGGA others(33): Show GGAAAGGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	148	0.0068	40	c.45+ others(55): Show c.45+6336_45+6337insGGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALM_chr19_703935_753329	731573	A A	ATCAGAAG others(33): Show ATCAGAAGGGCTCAGGGAAGCAGGAGACCCGCCTGGGGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0238 a0001c0003t0001g0238	1	273	0.0037	40	c.420 others(55): Show c.420+346_420+385dupAGCAGGAGACCCGCCTGGGGGCGTCAGAAG GGCTCAGGGA	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAN3_chr13_28133545_28300335	28235696	T T	TACACACA others(33): Show TACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0252 a0001c0001t0043g0252	1	15	0.0667	40	c.100 others(61): Show c.1000+15345_1000+15346insCACACACACACACACACACACACA CACACACACACACACA	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(33): Show AAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	159	0.0063	40	c.635 others(55): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(33): Show AAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	159	0.0063	40	c.635 others(55): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	159	0.0063	40	c.635 others(55): Show c.635+144_635+145insATATATATATATATATATATATATATATAT ATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PAOX_chr10_133374262_133396694	133379037	T T	TTCCCCGC others(33): Show TTCCCCGCGCCTCCCCGCCCCTCCCCGCCCCTCCCCGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	240	0.0042	40	c.-28 others(49): Show c.-280_-279insTCCCCGCGCCTCCCCGCCCCTCCCCGCCCCTCCCCG CCCC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		224		chr10	TogoVar
PAOX_chr10_133374262_133396694	133379165	C C	CCCTCCCC others(33): Show CCCTCCCCTCCCCTCCCCGCGCCTCCCCTCCCCTCCCCGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	309	0.0032	40	c.-15 others(49): Show c.-152_-151insCCTCCCCTCCCCTCCCCGCGCCTCCCCTCCCCTCCC CGCG	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		96		chr10	TogoVar
PAPPA2_chr1_176458175_176850601	176623758	C C	CCTTCCTT others(33): Show CCTTCCTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0030 a0001c0001t0005g0030	1	31	0.0323	40	c.199 others(61): Show c.1991+28166_1991+28167insCCTTCCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(33): Show ATATATATATATATATATATATATATATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG03654.hp2 HG01934.hp1 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0231 a0001c0001t0006g0288 a0001c0001t0001g0231 a0001c0001t0006g0288	2	195	0.0103	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATATATAT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	194	0.0052	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATATATGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	194	0.0052	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATATGTGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG03453.hp1 NA18992.hp1 others(1): Show HG02040.hp1 HG03453.hp1 NA18992.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0033 a0001c0003t0002	a0001c0001t0001g0301 a0001c0001t0005g0321 a0001c0001t0033g0102 others(1): Show a0001c0001t0001g0301 a0001c0001t0005g0321 a0001c0001t0033g0102 a0001c0003t0002g0246	4	197	0.0203	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATATGTGTGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02735.hp1 HG01361.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0269 a0001c0001t0001g0104 a0001c0001t0001g0269	2	195	0.0103	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATATGTGTGTGT GTGTGTGTGT	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(33): Show ATATATATATATATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01433.hp2 HG01952.hp2 others(1): Show HG01106.hp1 HG01433.hp2 HG01952.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0297 a0001c0001t0004g0074 a0001c0001t0004g0111 others(1): Show a0001c0001t0001g0297 a0001c0001t0004g0074 a0001c0001t0004g0111 a0001c0001t0004g0233	4	197	0.0203	40	c.28- others(55): Show c.28-3087_28-3086insATATATATATATATATATATGTGTGTGTGT GTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69300933	C C	CTCTTTCT others(33): Show CTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0147 a0001c0003t0003g0147	1	224	0.0045	40	c.-27 others(59): Show c.-277+1880_-277+1881insTTCTTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300937	C C	CTCTTTCC others(33): Show CTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0207 a0002c0002t0002g0207	1	170	0.0059	40	c.-27 others(59): Show c.-277+1887_-277+1888insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTC	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02895.hp2 HG02451.hp2 HG02895.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0188 a0002c0002t0009g0145 a0001c0001t0001g0188 a0002c0002t0009g0145	2	107	0.0187	40	c.-27 others(59): Show c.-277+1909_-277+1910insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69300948	C C	CTTCTTTC others(33): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0146 a0002c0002t0002g0146	1	106	0.0094	40	c.-27 others(59): Show c.-277+1918_-277+1957dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02109.hp1 HG02109.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0000 a0002c0003t0009g0000	2	326	0.0061	40	c.-41 others(51): Show c.-4134_-4133insATATATATATATATATATATTTTTTTTTTTTTTT TTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205383097	T T	TAGATAGA others(33): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0031 a0001c0003t0001g0031	1	52	0.0192	40	c.263 others(61): Show c.2631-17881_2631-17880insGAGAGAGATAGATAGATAGATAGA TAGATAGATAGATAGA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205581378	T T	TATATATA others(33): Show TATATATAAATATATATAAATATATATATAAGTATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0043 a0004c0011t0003g0043	1	54	0.0185	40	c.326 others(61): Show c.3260+28003_3260+28042dupTAAGTATATATAAATATATAAATA TATATAAATATATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0327	1	182	0.0055	40	c.295 others(57): Show c.295+7161_295+7162insATATATATATATATATATATATATATAT ATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(33): Show ATATATATATATATATACATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0222 a0001c0001t0004g0222	1	341	0.0029	40	c.295 others(57): Show c.295+7150_295+7151insCATATATATATATATATATATATGTATA TATATATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195559	A A	ATATATAT others(33): Show ATATATATATATATATATATACATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03492.hp1 HG01192.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0004 a0001c0001t0004 a0001c0004t0004	a0001c0001t0004g0195 a0001c0004t0004g0193 a0001c0001t0004g0195 a0001c0004t0004g0193	2	342	0.0058	40	c.295 others(57): Show c.295+7150_295+7151insCATATATATATATATATATGTATATATA TATATATATATA	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0296 a0001c0002t0001g0296	1	359	0.0028	40	c.295 others(57): Show c.295+7137_295+7138insGTATATATATATATATATATATATATAT ATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARP10_chr8_143972158_143991460	143981058	A A	AAAATTCA others(33): Show AAAATTCAAGCATACCATTTAAAGTCATCAAGGTGCTCACT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG02922.hp2 HG02145.hp1 HG02622.hp1 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0205 a0002c0002t0003g0203 a0002c0002t0003g0204 a0002c0002t0003g0205	3	377	0.0080	40	c.255 others(59): Show c.2556+1834_2556+1873dupAGTGAGCACCTTGATGACTTTAAATG GTATGCTTGAATTT	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981309	G G	GTGGTGGT others(33): Show GTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	375	0.0027	40	c.255 others(59): Show c.2556+1583_2556+1622dupTCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981349	A A	ATGGTGAT others(33): Show ATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02922.hp2 HG03098.hp2 HG00738.hp1 HG02922.hp2 HG03098.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0003 a0004c0004t0001 a0002c0002t0002 a0002c0002t0003 a0004c0004t0001	a0002c0002t0002g0232 a0002c0002t0003g0203 a0004c0004t0001g0175 a0002c0002t0002g0232 a0002c0002t0003g0203 a0004c0004t0001g0175	3	271	0.0111	40	c.255 others(59): Show c.2556+1582_2556+1583insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981349	A A	ATGGTGGT others(33): Show ATGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	269	0.0037	40	c.255 others(59): Show c.2556+1582_2556+1583insCCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981355	A A	ATGATGGT others(33): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02896.hp2 HG02897.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0016 a0002c0007t0003g0273 a0002c0007t0003g0016 a0002c0007t0003g0273	2	222	0.0090	40	c.255 others(59): Show c.2556+1576_2556+1577insCCACCATCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981429	G G	GTGGTGAT others(33): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02572.hp1 HG02165.hp2 HG02572.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0014 a0002c0002 a0003c0014	a0002c0002t0003 a0003c0014t0001 a0002c0002t0003 a0003c0014t0001	a0002c0002t0003g0211 a0003c0014t0001g0046 a0002c0002t0003g0211 a0003c0014t0001g0046	2	272	0.0074	40	c.255 others(59): Show c.2556+1502_2556+1503insTCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGGT others(33): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01243.hp2 HG01070.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0234 a0002c0002t0002g0235	2	154	0.0130	40	c.255 others(59): Show c.2556+1380_2556+1419dupTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981512	G G	GTGATGGT others(33): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0198 a0002c0002t0003g0198	1	153	0.0065	40	c.255 others(59): Show c.2556+1419_2556+1420insTCACCACCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981552	A A	ATGATGGT others(33): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03540.hp1 HG03516.hp2 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0196 a0002c0002t0003g0197	2	376	0.0053	40	c.255 others(59): Show c.2556+1379_2556+1380insCCACCATCACCTTCACCACTCACTGT CGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	AATATATA others(33): Show AATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	172	0.0058	40	c.256 others(57): Show c.2563-269_2563-268insATATATATATATATATATATATATATAT ATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARVG_chr22_44175925_44213469	44182348	A A	ACGCCCAG others(33): Show ACGCCCAGGCCAGGCTCTTTCGTTTTCTCTGGCCATGGCCC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	420	0.0024	40	c.-13 others(55): Show c.-13+432_-13+471dupCGCCCAGGCCAGGCTCTTTCGTTTTCTCTG GCCATGGCCC	PARVG	ENSG00000138964.17	transcript	ENST00000444313.8	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151653868	C C	CTCCCTCC others(33): Show CTCCCTCCCTCCCTCCCTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	83	0.0120	40	c.717 others(57): Show c.717+5168_717+5169insCCTCCCTCCCTCCCTCTTTCTTTCTTTC TTTCTTTCTTTC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	9/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61813364	T T	TATATATA others(33): Show TATATATATACATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0032 a0032	a0032c0134 a0032c0134	a0032c0134t0003 a0032c0134t0003	a0032c0134t0003g0062 a0032c0134t0003g0062	1	153	0.0065	40	c.168 others(59): Show c.1683+4843_1683+4844insCATATATATATATATATATATATATA TATACATATATATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	14/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0003 a0003	a0003c0100 a0003c0100	a0003c0100t0001 a0003c0100t0001	a0003c0100t0001g0009 a0003c0100t0001g0009	1	5	0.2000	40	c.313 others(59): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	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(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0046 a0046	a0046c0035 a0046c0035	a0046c0035t0009 a0046c0035t0009	a0046c0035t0009g0077 a0046c0035t0009g0077	1	42	0.0238	40	c.367 others(61): Show c.3670+24450_3670+24451insGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	27/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATL1_chr11_59631716_59674037	59632663	A A	ATATATCT others(33): Show ATATATCTATATATATATCTATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG00733.hp1 HG01106.hp1 others(23): Show HG00639.hp2 HG00733.hp1 HG01106.hp1 HG01243.hp1 HG01361.hp2 HG01928.hp1 HG01934.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02258.hp2 HG02273.hp2 HG02523.hp1 HG02970.hp2 HG03130.hp1 NA18939.hp2 NA18941.hp2 NA18949.hp2 NA18961.hp1 NA18967.hp2 NA18991.hp1 NA19055.hp2 NA19057.hp1 NA19066.hp1 NA19078.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0054 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0006g0032	26	262	0.0992	40	c.57 others(51): Show c.5726_*5727insGATATATATAGATATATATATAGATATATATATA GATATA	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		4052		chr11	TogoVar
PATZ1_chr22_31320804_31351346	31348401	A A	AAAAAAAC others(33): Show AAAAAAACCCAAACCAACACCAAAACAACACAACAACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	384	0.0026	40	c.-28 others(51): Show c.-2800_-2799insGGGTGTTGTTGTGTTGTTTTGGTGTTGGTTTGGG TTTTTT	PATZ1	ENSG00000100105.18	transcript	ENST00000266269.10	protein_coding		2056		chr22	TogoVar
PAWR_chr12_79579879_79695964	79639881	T T	TATTCCTA others(33): Show TATTCCTATTCCTATTCCTATTCCTATTCCTATTCCATTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0017 a0002c0002t0017	a0002c0002t0017g0183 a0002c0002t0017g0183	1	153	0.0065	40	c.517 others(59): Show c.517-18675_517-18674insGGAATGGAATAGGAATAGGAATAGGA ATAGGAATAGGAAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar

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