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
PAPSS2_chr10_87654878_87752705	87706108	A A	ATATATAT others(19): Show ATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0322 a0001c0001t0005g0322	1	372	0.0027	26	c.28- others(41): Show c.28-3087_28-3086insATATATATATATGTGTGTGTGTGTGT	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(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0130 a0001c0001t0012g0304 a0001c0001t0004g0130 a0001c0001t0012g0304	2	372	0.0054	26	c.381 others(39): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724849	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	372	0.0027	26	c.881 others(43): Show c.881-2434_881-2433insCACACACACACACACACACACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG00597.hp1 others(74): Show HG00280.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00735.hp1 HG01074.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG02004.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02148.hp2 HG02258.hp2 HG02559.hp2 HG02622.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03471.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18944.hp1 NA18950.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18971.hp2 NA18998.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp1 NA19009.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19072.hp1 NA19072.hp2 NA19078.hp1 NA19080.hp1 NA19085.hp1 NA19087.hp1 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0022 a0001c0001t0029 a0001c0001t0030 a0001c0001t0035 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0052 a0001c0001t0055 a0004c0006t0001	a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0030 others(74): Show a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0202 a0001c0001t0001g0231 a0001c0001t0001g0241 a0001c0001t0001g0245 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0091 a0001c0001t0002g0100 a0001c0001t0002g0134 a0001c0001t0002g0145 a0001c0001t0002g0150 a0001c0001t0002g0181 a0001c0001t0002g0261 a0001c0001t0002g0308 a0001c0001t0003g0024 a0001c0001t0003g0070 a0001c0001t0003g0207 a0001c0001t0004g0007 a0001c0001t0004g0130 a0001c0001t0005g0211 a0001c0001t0005g0346 a0001c0001t0005g0361 a0001c0001t0006g0201 a0001c0001t0007g0311 a0001c0001t0007g0312 a0001c0001t0007g0329 a0001c0001t0007g0344 a0001c0001t0007g0349 a0001c0001t0007g0368 a0001c0001t0009g0215 a0001c0001t0012g0304 a0001c0001t0014g0233 a0001c0001t0014g0235 a0001c0001t0014g0236 a0001c0001t0014g0238 a0001c0001t0022g0018 a0001c0001t0029g0066 a0001c0001t0030g0303 a0001c0001t0035g0118 a0001c0001t0043g0065 a0001c0001t0045g0001 a0001c0001t0048g0158 a0001c0001t0052g0159 a0001c0001t0055g0348 a0004c0006t0001g0254	77	372	0.2070	26	c.881 others(43): Show c.881-2412_881-2411insCACACACACACACACACACACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69378264	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0229 a0001c0001t0006g0229	1	284	0.0035	26	c.52- others(41): Show c.52-1618_52-1593dupAAAAAAAAAAAAAAAAAAAAAAAAAA	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA21309.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0054 a0001c0001t0005g0020 a0001c0001t0005g0054	2	362	0.0055	26	c.-30 others(37): Show c.-3007_-3006insATATATATATTTTTTTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0020 a0001c0001t0005g0020	1	362	0.0028	26	c.-30 others(37): Show c.-3007_-3006insATATATATATATATATTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR9_chr3_142949585_142968674	142967469	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0000 a0001c0001t0077g0000	1	446	0.0022	26	c.-41 others(37): Show c.-4134_-4133insATATATATATATTTTTTTTTTTTTTT	PAQR9	ENSG00000188582.10	transcript	ENST00000340634.6	protein_coding		3796		chr3	TogoVar
PARD3B_chr2_204540475_205625162	205054401	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0049 a0001c0003t0008g0049	1	54	0.0185	26	c.504 others(43): Show c.504+6711_504+6712insATATATATATATATATATATATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205057607	G G	GTATGTGT others(19): Show GTATGTGTATACGTATATATATACATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02886.hp1 HG02965.hp1 others(2): Show HG01884.hp2 HG02886.hp1 HG02965.hp1 HG03195.hp1 HG03486.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0011	a0001c0001 a0003c0005 a0008c0014 others(1): Show a0001c0001 a0003c0005 a0008c0014 a0011c0027	a0001c0001t0001 a0003c0005t0005 a0008c0014t0001 others(2): Show a0001c0001t0001 a0003c0005t0005 a0008c0014t0001 a0008c0014t0011 a0011c0027t0015	a0001c0001t0001g0042 a0003c0005t0005g0045 a0008c0014t0001g0011 others(2): Show a0001c0001t0001g0042 a0003c0005t0005g0045 a0008c0014t0001g0011 a0008c0014t0011g0023 a0011c0027t0015g0003	5	54	0.0926	26	c.504 others(43): Show c.504+9926_504+9927insACGTATATATATACATATATGTGTAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205103109	T T	TATATTTT others(19): Show TATATTTTATATTTATGTAAAATAAAC	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0009 a0003c0009t0009	a0003c0009t0009g0039 a0003c0009t0009g0039	1	54	0.0185	26	c.505 others(43): Show c.505-1270_505-1245dupATAAACATATTTTATATTTATGTAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205103250	A A	AAAACATA others(19): Show AAAACATATTTTATATTTATGTAAAAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp2 HG03195.hp2 HG01109.hp2 HG02109.hp2 HG03195.hp2	a0004 a0005 a0004 a0005	a0004c0012 a0005c0013 a0004c0012 a0005c0013	a0004c0012t0003 a0005c0013t0001 a0005c0013t0003 a0004c0012t0003 a0005c0013t0001 a0005c0013t0003	a0004c0012t0003g0004 a0005c0013t0001g0001 a0005c0013t0003g0002 a0004c0012t0003g0004 a0005c0013t0001g0001 a0005c0013t0003g0002	3	54	0.0556	26	c.505 others(43): Show c.505-1170_505-1169insATTTTATATTTATGTAAAATAAACAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205117915	G G	GTACACAC others(19): Show GTACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0001 a0001c0001t0004 a0001c0003t0001	a0001c0001t0004g0017 a0001c0003t0001g0031 a0001c0001t0004g0017 a0001c0003t0001g0031	2	54	0.0370	26	c.681 others(41): Show c.681-984_681-983insCACATACACACACACACACACACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205117916	T T	TACACACA others(19): Show TACACACACACACACACACACACATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG03453.hp1 others(5): Show HG02647.hp2 HG02886.hp2 HG03453.hp1 NA18522.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0002 a0004 a0007 a0002 a0004 a0007	a0002c0004 a0002c0006 a0004c0011 others(4): Show a0002c0004 a0002c0006 a0004c0011 a0004c0012 a0004c0026 a0007c0017 a0007c0028	a0002c0004t0002 a0002c0006t0007 a0004c0011t0005 others(4): Show a0002c0004t0002 a0002c0006t0007 a0004c0011t0005 a0004c0012t0003 a0004c0026t0004 a0007c0017t0012 a0007c0028t0003	a0002c0004t0002g0035 a0002c0006t0007g0013 a0002c0006t0007g0018 others(5): Show a0002c0004t0002g0035 a0002c0006t0007g0013 a0002c0006t0007g0018 a0004c0011t0005g0044 a0004c0012t0003g0048 a0004c0026t0004g0041 a0007c0017t0012g0006 a0007c0028t0003g0007	8	54	0.1482	26	c.681 others(41): Show c.681-984_681-983insCATACACACACACACACACACACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205238882	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0026 a0006c0007t0001g0026	1	54	0.0185	26	c.214 others(45): Show c.2141-6873_2141-6872insGTATGTGTATATATATATATATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205238888	A A	ATATATAT others(19): Show ATATATATATATATATATATGTATGTG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp1 others(2): Show HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02723.hp2 HG03486.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0003 a0002c0002 a0002c0004 others(2): Show a0001c0003 a0002c0002 a0002c0004 a0003c0005 a0010c0025	a0001c0003t0001 a0002c0002t0004 a0002c0004t0014 others(2): Show a0001c0003t0001 a0002c0002t0004 a0002c0004t0014 a0003c0005t0001 a0010c0025t0022	a0001c0003t0001g0031 a0002c0002t0004g0029 a0002c0004t0014g0016 others(2): Show a0001c0003t0001g0031 a0002c0002t0004g0029 a0002c0004t0014g0016 a0003c0005t0001g0010 a0010c0025t0022g0009	5	54	0.0926	26	c.214 others(45): Show c.2141-6871_2141-6870insGTATGTGTATATATATATATATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205331782	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0004 a0004	a0004c0026 a0004c0026	a0004c0026t0004 a0004c0026t0004	a0004c0026t0004g0041 a0004c0026t0004g0041	1	54	0.0185	26	c.263 others(47): Show c.2630+30104_2630+30105insAAAAAAAAAAAAAAAAAAAAAAAA AA	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(19): Show ATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0094 a0001c0001t0005g0094	1	100	0.0100	26	c.342 others(47): Show c.3420-13639_3420-13638insAAAAAAAAAAAAAAAAAATATATA TA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34432041	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0028 a0001c0004t0002g0028	1	100	0.0100	26	c.714 others(45): Show c.714+18250_714+18275dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	5/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	100	0.0100	26	c.222 others(45): Show c.222+29501_222+29502insGTGTATATATATATATATATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80184502	G G	GCAGAGGG others(19): Show GCAGAGGGAGCAAGGCCGTGAAACCCT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0302 a0001c0002t0001g0302	1	382	0.0026	26	c.295 others(45): Show c.295+18207_295+18208insAGGGTTTCACGGCCTTGCTCCCTCTG	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18973.hp1 NA18980.hp2 NA18945.hp2 NA18973.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0009 a0001c0001t0005 a0001c0002t0001 a0001c0002t0009	a0001c0001t0005g0335 a0001c0002t0001g0290 a0001c0002t0009g0321 a0001c0001t0005g0335 a0001c0002t0001g0290 a0001c0002t0009g0321	3	382	0.0079	26	c.295 others(43): Show c.295+7161_295+7162insATATATATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(19): Show TATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0347 a0002c0004t0001g0347	1	382	0.0026	26	c.295 others(43): Show c.295+7137_295+7138insGTGTATATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(19): Show ATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG04115.hp1 NA18906.hp1 HG03098.hp1 HG04115.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0019	3	292	0.0103	26	c.173 others(45): Show c.1738-6329_1738-6328insAAAAAAAATATATATATATATATATA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(19): Show ATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0020 a0001c0009t0003g0020	1	292	0.0034	26	c.173 others(45): Show c.1738-6329_1738-6328insAAAAAAAAAAAATATATATATATATA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARL_chr3_183824271_183889880	183882269	T T	TTATATAT others(19): Show TTATATATATATATATATATATATTTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	358	0.0028	26	c.125 others(43): Show c.125+2452_125+2453insTAAATATATATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp2 NA18906.hp1 HG02056.hp1 HG02056.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0060 a0001c0001t0002g0153 a0001c0001t0005g0058 a0001c0001t0002g0060 a0001c0001t0002g0153 a0001c0001t0005g0058	3	169	0.0178	26	c.148 others(47): Show c.1481-18609_1481-18608insTTTTTTTTTTTTTTTTTTTTTTTT TT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	2	366	0.0055	26	c.-33 others(37): Show c.-3319_-3318insAAAAAAAAAAATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0325 a0001c0003t0007g0325	1	366	0.0027	26	c.-33 others(37): Show c.-3319_-3318insAAATATATATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(19): Show GTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00621.hp1 HG00639.hp2 others(11): Show HG00597.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG02080.hp1 HG02622.hp1 HG03209.hp2 HG03453.hp1 NA18944.hp2 NA18947.hp1 NA18979.hp1 NA18995.hp1 NA19010.hp1 NA19074.hp1	a0001 a0004 a0010 others(2): Show a0001 a0004 a0010 a0013 a0023	a0001c0001 a0004c0004 a0010c0013 others(3): Show a0001c0001 a0004c0004 a0010c0013 a0010c0047 a0013c0016 a0023c0045	a0001c0001t0001 a0001c0001t0035 a0004c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0035 a0004c0004t0001 a0004c0004t0002 a0004c0004t0041 a0010c0013t0001 a0010c0013t0024 a0010c0047t0037 a0013c0016t0017 a0023c0045t0010	a0001c0001t0001g0049 a0001c0001t0001g0113 a0001c0001t0001g0135 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0113 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0157 a0001c0001t0035g0114 a0004c0004t0001g0110 a0004c0004t0002g0093 a0004c0004t0041g0119 a0010c0013t0001g0275 a0010c0013t0024g0280 a0010c0047t0037g0285 a0013c0016t0017g0122 a0023c0045t0010g0279	14	356	0.0393	26	c.187 others(43): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTTTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
PARP16_chr15_65253099_65291883	65269206	T T	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0189 a0001c0001t0018g0189	1	316	0.0032	26	c.312 others(43): Show c.312+1728_312+1729insGAAAGAAAGAAAGAAAGAAAGAAAGA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PARP1_chr1_226355691_226413093	226410479	G G	GGGGAGGA others(19): Show GGGGAGGATGGGAGGGGAGGGGAGGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0014 a0014	a0014c0025 a0014c0025	a0014c0025t0002 a0014c0025t0002	a0014c0025t0002g0086 a0014c0025t0002g0086	1	358	0.0028	26	c.-25 others(37): Show c.-2551_-2550insATCCTCCCCTCCCCTCCCATCCTCCC	PARP1	ENSG00000143799.14	transcript	ENST00000366794.10	protein_coding		2387		chr1	TogoVar
PARP2_chr14_20338635_20362904	20347356	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	420	0.0024	26	c.324 others(41): Show c.324+444_324+445insGTGTGTGTATATATATATATATATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP4_chr13_24415931_24517778	24455480	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02132.hp2 HG02293.hp1 others(1): Show HG01928.hp2 HG02132.hp2 HG02293.hp1 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0061 a0002c0002t0001g0079 a0002c0002t0001g0140 others(1): Show a0002c0002t0001g0061 a0002c0002t0001g0079 a0002c0002t0001g0140 a0002c0002t0001g0141	4	362	0.0111	26	c.256 others(43): Show c.2563-294_2563-269dupATATATATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24455506	T T	TATATATA others(19): Show TATATATATATATATATATATATCACA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0350 a0006c0006t0001g0350	1	362	0.0028	26	c.256 others(43): Show c.2563-295_2563-294insTGTGATATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24497786	T T	TGCTATCC others(19): Show TGCTATCCTCATGTGTAGAGATGAGGA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0171 a0003c0003t0001g0171	1	362	0.0028	26	c.591 others(41): Show c.591+304_591+329dupTCCTCATCTCTACACATGAGGATAGC	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	6/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02129.hp1 NA18940.hp2 others(2): Show HG02055.hp1 HG02129.hp1 NA18940.hp2 NA18980.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0048 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0048 a0001c0002t0002 a0001c0003t0011	a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0048g0298 others(2): Show a0001c0001t0001g0297 a0001c0001t0001g0300 a0001c0001t0048g0298 a0001c0002t0002g0147 a0001c0003t0011g0228	5	328	0.0152	26	c.184 others(43): Show c.184+3938_184+3963dupTATATATATATATATATATATATATA	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(19): Show TATATATATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0028 a0001c0004t0005g0028	1	328	0.0031	26	c.184 others(43): Show c.184+3963_184+3964insTATATATATATACACACACACACACA	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(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	328	0.0031	26	c.184 others(43): Show c.184+3963_184+3964insTATATATATATATATATATATATACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PATJ_chr1_61737480_62168915	61886819	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02145.hp1 HG02145.hp2 others(1): Show HG01891.hp2 HG02145.hp1 HG02145.hp2 HG03041.hp1	a0001 a0002 a0036 others(1): Show a0001 a0002 a0036 a0051	a0001c0001 a0002c0030 a0036c0044 others(1): Show a0001c0001 a0002c0030 a0036c0044 a0051c0129	a0001c0001t0001 a0002c0030t0005 a0036c0044t0006 others(1): Show a0001c0001t0001 a0002c0030t0005 a0036c0044t0006 a0051c0129t0002	a0001c0001t0001g0019 a0002c0030t0005g0121 a0036c0044t0006g0071 others(1): Show a0001c0001t0001g0019 a0002c0030t0005g0121 a0036c0044t0006g0071 a0051c0129t0002g0147	4	158	0.0253	26	c.313 others(45): Show c.3131+2423_3131+2424insAAAAAAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	22/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	61997982	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0062 a0062	a0062c0063 a0062c0063	a0062c0063t0027 a0062c0063t0027	a0062c0063t0027g0100 a0062c0063t0027g0100	1	158	0.0063	26	c.386 others(45): Show c.3867+7619_3867+7620insTTATATATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	28/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02922.hp2 HG04204.hp1 HG00140.hp2 HG02922.hp2 HG04204.hp1	a0001 a0057 a0001 a0057	a0001c0021 a0001c0058 a0057c0080 a0001c0021 a0001c0058 a0057c0080	a0001c0021t0001 a0001c0058t0002 a0057c0080t0003 a0001c0021t0001 a0001c0058t0002 a0057c0080t0003	a0001c0021t0001g0113 a0001c0058t0002g0095 a0057c0080t0003g0032 a0001c0021t0001g0113 a0001c0058t0002g0095 a0057c0080t0003g0032	3	158	0.0190	26	c.396 others(45): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62086228	A A	ATGTGTGT others(19): Show ATGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0062 a0062	a0062c0063 a0062c0063	a0062c0063t0027 a0062c0063t0027	a0062c0063t0027g0100 a0062c0063t0027g0100	1	158	0.0063	26	c.437 others(45): Show c.4377+1595_4377+1596insGTGTGTGTGTGTGTGTGTGTGTGTGT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106154	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0005 a0005	a0005c0124 a0005c0124	a0005c0124t0001 a0005c0124t0001	a0005c0124t0001g0003 a0005c0124t0001g0003	1	158	0.0063	26	c.437 others(45): Show c.4378-2282_4378-2281insATATATATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62106158	G G	GTGTGTGT others(19): Show GTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03927.hp1 HG04115.hp1 HG01433.hp1 HG03927.hp1 HG04115.hp1	a0002 a0003 a0002 a0003	a0002c0049 a0002c0094 a0003c0099 a0002c0049 a0002c0094 a0003c0099	a0002c0049t0004 a0002c0094t0002 a0003c0099t0006 a0002c0049t0004 a0002c0094t0002 a0003c0099t0006	a0002c0049t0004g0029 a0002c0094t0002g0002 a0003c0099t0006g0009 a0002c0049t0004g0029 a0002c0094t0002g0002 a0003c0099t0006g0009	3	158	0.0190	26	c.437 others(45): Show c.4378-2278_4378-2277insGTGTGTGTATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAX1_chr20_21700664_21723481	21713382	T T	TTTTTTTT others(19): Show TTTTTTTTTTTTTTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0094 a0001c0001t0049g0094	1	400	0.0025	26	c.128 others(45): Show c.1283-1088_1283-1087insTTTTTTTTTTTTGTGTGTGTGTGTGT	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding	4/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
PAX1_chr20_21700664_21723481	21721301	G G	GTAATACA others(19): Show GTAATACATATATATTATATATGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 NA19043.hp1 HG03225.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0047 a0001c0001t0008 a0001c0001t0047	a0001c0001t0008g0008 a0001c0001t0047g0054 a0001c0001t0008g0008 a0001c0001t0047g0054	2	400	0.0050	26	c.67 others(37): Show c.6739_*6740insTAATACATATATATTATATATGTATA	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		2821		chr20	TogoVar
PAX5_chr9_36828269_37039268	37033976	G G	GCGGTCCT others(19): Show GCGGTCCTACCTGTCCTGCTGGTCCGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0257 a0001c0002t0008g0257	1	274	0.0037	26	c.30_ others(33): Show c.30_46+9dupTCGGACCAGCAGGACAGGTAGGACCG	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	1/9			chr9	TogoVar
PAX6_chr11_31784026_31816322	31814990	G G	GTCTCTCT others(19): Show GTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02683.hp1 NA18944.hp2 others(3): Show HG00099.hp1 HG02683.hp1 NA18944.hp2 NA18959.hp2 NA19007.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0027 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0063 a0001c0001t0002g0003	6	376	0.0160	26	c.-42 others(37): Show c.-4218_-4193dupGAGAGAGAGAGAGAGAGAGAGAGAGA	PAX6	ENSG00000007372.25	transcript	ENST00000640368.2	protein_coding		3669		chr11	TogoVar
PAX7_chr1_18625846_18753866	18689402	A A	AAGCCCTG others(19): Show AAGCCCTGGCAGGAAAGGCCAGGGCAG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0012 a0001c0002t0008g0012	1	302	0.0033	26	c.587 others(43): Show c.587-2336_587-2311dupGGCCAGGGCAGAGCCCTGGCAGGAAA	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr1	TogoVar

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