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
PANK3_chr5_168543495_168584368	168565868	A A	AAAATATA others(15): Show AAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19043.hp2 HG03139.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0043 a0001c0001t0001 a0001c0001t0043	a0001c0001t0001g0254 a0001c0001t0043g0288 a0001c0001t0001g0254 a0001c0001t0043g0288	2	416	0.0048	22	c.635 others(37): Show c.635+144_635+145insATATATATATATATATATATTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	416	0.0024	22	c.29- others(33): Show c.29-33_29-32insATATATATATATATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0060 a0001c0001t0005g0060	1	416	0.0024	22	c.29- others(37): Show c.29-4440_29-4419dupTTTTTTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PAOX_chr10_133374262_133396694	133379168	T T	TCCCCCGC others(15): Show TCCCCCGCGCCTCCCCGCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	346	0.0029	22	c.-14 others(31): Show c.-149_-148insCCCCCGCGCCTCCCCGCCCCTC	PAOX	ENSG00000148832.16	transcript	ENST00000278060.10	protein_coding		93		chr10	TogoVar
PAPLN_chr14_73232506_73279623	73241937	C C	CAGGTGGG others(15): Show CAGGTGGGAGTTGAAGGAGGCAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04204.hp2 HG02602.hp2 HG04204.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0109 a0012c0017t0001g0110 a0012c0017t0001g0109 a0012c0017t0001g0110	2	418	0.0048	22	c.54+ others(37): Show c.54+2106_54+2127dupAGGTGGGAGTTGAAGGAGGCAT	PAPLN	ENSG00000100767.17	transcript	ENST00000644200.2	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPOLA_chr14_96497382_96572116	96522112	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	310	0.0032	22	c.249 others(39): Show c.249+1043_249+1044insTTTTTTTTTTTTTTTTTTTTTT	PAPOLA	ENSG00000090060.19	transcript	ENST00000216277.13	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
PAPPA2_chr1_176458175_176850601	176498751	C C	CACAAAAA others(15): Show CACAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0078 a0001c0001t0006g0078	1	118	0.0085	22	c.-91 others(43): Show c.-917+35334_-917+35335insCAAAAAAAAAAAAAAAAAAAAA	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA2_chr1_176458175_176850601	176617647	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0008 a0001c0001t0005g0008	1	118	0.0085	22	c.199 others(43): Show c.1991+22070_1991+22071insATATATATATATATATATATAT	PAPPA2	ENSG00000116183.11	transcript	ENST00000367662.5	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAPPA_chr9_116148791_116407321	116289346	G G	GGCATATA others(15): Show GGCATATATATGCCATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01168.hp2 HG03834.hp1 HG01106.hp2 HG01168.hp2 HG03834.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0012 a0002c0003 a0003c0012	a0002c0003t0002 a0003c0012t0006 a0002c0003t0002 a0003c0012t0006	a0002c0003t0002g0066 a0002c0003t0002g0067 a0003c0012t0006g0200 a0002c0003t0002g0066 a0002c0003t0002g0067 a0003c0012t0006g0200	3	234	0.0128	22	c.295 others(43): Show c.2954-13400_2954-13399insCCATATATATAGCATATATATG	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS1_chr4_107608666_107725234	107653062	T T	TATATATA others(15): Show TATATATATGAATACATATATGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03130.hp2 HG03225.hp2 others(1): Show HG02572.hp1 HG03130.hp2 HG03225.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0005t0001	a0001c0001t0001g0155 a0001c0001t0003g0270 a0001c0002t0001g0239 others(1): Show a0001c0001t0001g0155 a0001c0001t0003g0270 a0001c0002t0001g0239 a0001c0005t0001g0035	4	276	0.0145	22	c.123 others(39): Show c.1237+407_1237+428dupTCATATATGTATTCATATATAT	PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding	9/11			chr4	TogoVar
PAPSS2_chr10_87654878_87752705	87688443	T T	TTTTATTT others(15): Show TTTTATTTTATTTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00558.hp1 others(65): Show HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG01069.hp1 HG01109.hp2 HG01243.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01516.hp1 HG01891.hp2 HG01934.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03942.hp2 NA18522.hp1 NA18960.hp2 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp1 NA18981.hp1 NA18986.hp1 NA18994.hp2 NA18997.hp2 NA19003.hp1 NA19005.hp2 NA19010.hp2 NA19054.hp1 NA19064.hp1 NA19064.hp2 NA19077.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(24): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0024 a0001c0001t0027 a0001c0001t0029 a0001c0001t0031 a0001c0001t0039 a0001c0001t0045 a0001c0001t0047 a0001c0001t0051 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0002t0028	a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0030 others(65): Show a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0047 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0083 a0001c0001t0001g0143 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0051 a0001c0001t0002g0129 a0001c0001t0002g0240 a0001c0001t0003g0008 a0001c0001t0003g0024 a0001c0001t0003g0036 a0001c0001t0003g0052 a0001c0001t0004g0006 a0001c0001t0004g0007 a0001c0001t0004g0130 a0001c0001t0006g0037 a0001c0001t0007g0319 a0001c0001t0008g0318 a0001c0001t0008g0331 a0001c0001t0009g0155 a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0009g0215 a0001c0001t0009g0216 a0001c0001t0009g0218 a0001c0001t0009g0219 a0001c0001t0009g0220 a0001c0001t0009g0221 a0001c0001t0009g0222 a0001c0001t0010g0010 a0001c0001t0010g0023 a0001c0001t0010g0026 a0001c0001t0010g0028 a0001c0001t0010g0044 a0001c0001t0010g0075 a0001c0001t0010g0081 a0001c0001t0010g0082 a0001c0001t0011g0064 a0001c0001t0016g0063 a0001c0001t0016g0144 a0001c0001t0018g0223 a0001c0001t0020g0157 a0001c0001t0020g0160 a0001c0001t0020g0164 a0001c0001t0022g0018 a0001c0001t0024g0142 a0001c0001t0027g0027 a0001c0001t0029g0066 a0001c0001t0031g0025 a0001c0001t0039g0040 a0001c0001t0045g0001 a0001c0001t0047g0161 a0001c0001t0051g0162 a0001c0001t0057g0154 a0001c0001t0059g0214 a0001c0001t0060g0153 a0001c0001t0061g0217 a0001c0002t0028g0033	68	372	0.1828	22	c.28- others(39): Show c.28-20746_28-20745insTATTTTATTTATTTATTTATTT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87706084	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19078.hp1 NA20129.hp2 NA19005.hp2 NA19078.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0014g0236 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0014g0236	3	372	0.0081	22	c.28- others(37): Show c.28-3108_28-3087dupATATATATATATATATATATAT	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(15): Show ATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp2 HG02717.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0215 a0001c0001t0009g0218 a0001c0001t0009g0215 a0001c0001t0009g0218	2	372	0.0054	22	c.28- others(37): Show c.28-3087_28-3086insATATATATATATATGTGTGTGT	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(15): Show ATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03834.hp2 HG01081.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0058 a0001c0001t0001 a0001c0001t0058	a0001c0001t0001g0290 a0001c0001t0058g0326 a0001c0001t0001g0290 a0001c0001t0058g0326	2	372	0.0054	22	c.28- others(37): Show c.28-3087_28-3086insATATATATGTGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87724851	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01168.hp1 HG01169.hp2 others(24): Show HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01943.hp1 HG02135.hp1 HG02486.hp1 HG02896.hp1 HG02965.hp2 HG03098.hp1 HG03540.hp2 HG03831.hp2 HG06807.hp1 NA18906.hp2 NA18950.hp1 NA18951.hp2 NA18975.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18997.hp1 NA19003.hp2 NA19009.hp1 NA19010.hp1 NA19070.hp1 NA19070.hp2 NA19085.hp2 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0020 a0001c0001t0033 a0001c0001t0038 a0001c0001t0041 a0001c0001t0050 a0002c0004t0046 a0002c0004t0062 a0002c0004t0064	a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0086 others(24): Show a0001c0001t0001g0032 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0253 a0001c0001t0001g0281 a0001c0001t0002g0046 a0001c0001t0002g0068 a0001c0001t0002g0105 a0001c0001t0002g0137 a0001c0001t0003g0022 a0001c0001t0003g0109 a0001c0001t0003g0188 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0008g0359 a0001c0001t0010g0075 a0001c0001t0017g0106 a0001c0001t0017g0192 a0001c0001t0017g0239 a0001c0001t0020g0157 a0001c0001t0033g0101 a0001c0001t0038g0315 a0001c0001t0041g0310 a0001c0001t0050g0167 a0002c0004t0046g0234 a0002c0004t0062g0323 a0002c0004t0064g0172	27	372	0.0726	22	c.881 others(39): Show c.881-2412_881-2411insCACACACACACACACACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAPSS2_chr10_87654878_87752705	87725884	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0304 a0001c0001t0012g0304	1	372	0.0027	22	c.881 others(39): Show c.881-1390_881-1369dupCACACACACACACACACACACA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PAQR5_chr15_69293912_69412780	69364501	T T	TATATATA others(15): Show TATATATATACATTATATATGTA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0246 a0001c0001t0021g0246	1	284	0.0035	22	c.51+ others(37): Show c.51+4392_51+4413dupAATATATATACATTATATATGT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAQR5_chr15_69293912_69412780	69378264	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0214 a0001c0001t0018g0214	1	284	0.0035	22	c.52- others(37): Show c.52-1614_52-1593dupAAAAAAAAAAAAAAAAAAAAAA	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(15): Show AAAAAAAAAAAAAATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG02717.hp1 others(3): Show HG00639.hp1 HG01884.hp2 HG02717.hp1 HG02965.hp2 HG03130.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0053 a0001c0001t0005g0009 a0001c0001t0005g0053	6	362	0.0166	22	c.-30 others(33): Show c.-3007_-3006insATATATATATTTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0026 a0001c0001t0018g0026	1	362	0.0028	22	c.-30 others(33): Show c.-3007_-3006insATATATATATATTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PARD3B_chr2_204540475_205625162	204643115	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	54	0.0185	22	c.121 others(41): Show c.121-43045_121-43044insAAAAAAAAAAAAAAAAAAAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	204764715	C C	CATGTGTG others(15): Show CATGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0021 a0002c0004t0021	a0002c0004t0021g0051 a0002c0004t0021g0051	1	54	0.0185	22	c.222 others(41): Show c.222+78433_222+78434insATGTGTGTGTGTGTGTGTGTGT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	2/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205117915	G G	GTACACAC others(15): Show GTACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG01109.hp1 others(16): Show HG00609.hp1 HG00609.hp2 HG01109.hp1 HG01109.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp2 HG02622.hp2 HG02630.hp1 HG02976.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA19030.hp1 NA19043.hp1 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0009 a0012	a0001c0001 a0001c0003 a0002c0016 others(11): Show a0001c0001 a0001c0003 a0002c0016 a0002c0021 a0003c0005 a0003c0009 a0003c0010 a0003c0018 a0004c0012 a0004c0019 a0004c0020 a0005c0013 a0009c0024 a0012c0023	a0001c0001t0001 a0001c0001t0002 a0001c0003t0016 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0016 a0002c0016t0002 a0002c0021t0001 a0003c0005t0001 a0003c0009t0002 a0003c0010t0006 a0003c0010t0019 a0003c0018t0002 a0004c0012t0003 a0004c0019t0002 a0004c0020t0020 a0005c0013t0001 a0005c0013t0003 a0009c0024t0003 a0012c0023t0001	a0001c0001t0001g0053 a0001c0001t0002g0005 a0001c0001t0002g0033 others(16): Show a0001c0001t0001g0053 a0001c0001t0002g0005 a0001c0001t0002g0033 a0001c0003t0016g0046 a0002c0016t0002g0037 a0002c0021t0001g0012 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0009t0002g0034 a0003c0010t0006g0021 a0003c0010t0019g0030 a0003c0018t0002g0038 a0004c0012t0003g0004 a0004c0019t0002g0036 a0004c0020t0020g0032 a0005c0013t0001g0001 a0005c0013t0003g0002 a0009c0024t0003g0014 a0012c0023t0001g0052	19	54	0.3519	22	c.681 others(37): Show c.681-993_681-972dupCACACACACATACACACACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205117918	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19030.hp2 HG03041.hp2 NA19030.hp2	a0002 a0004 a0002 a0004	a0002c0004 a0004c0011 a0002c0004 a0004c0011	a0002c0004t0021 a0004c0011t0003 a0002c0004t0021 a0004c0011t0003	a0002c0004t0021g0051 a0004c0011t0003g0043 a0002c0004t0021g0051 a0004c0011t0003g0043	2	54	0.0370	22	c.681 others(37): Show c.681-984_681-983insCATACACACACACACACACACA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380503	T T	TTATATAT others(15): Show TTATATATTATATAAAGAATACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20300.hp2 HG03195.hp2 NA20300.hp2	a0004 a0004	a0004c0012 a0004c0020 a0004c0012 a0004c0020	a0004c0012t0003 a0004c0020t0020 a0004c0012t0003 a0004c0020t0020	a0004c0012t0003g0004 a0004c0020t0020g0032 a0004c0012t0003g0004 a0004c0020t0020g0032	2	54	0.0370	22	c.263 others(43): Show c.2631-20503_2631-20502insTATATAAAGAATACATATATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205489498	T T	TGTATATA others(15): Show TGTATATATATACGTATATATAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02630.hp2 HG02647.hp2 others(9): Show HG01109.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03471.hp1 HG03486.hp1 NA19030.hp2 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0003 a0002c0006 a0002c0021 others(4): Show a0001c0003 a0002c0006 a0002c0021 a0002c0022 a0003c0009 a0004c0011 a0007c0028	a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 others(9): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0016 a0002c0006t0007 a0002c0021t0001 a0002c0022t0018 a0003c0009t0002 a0003c0009t0009 a0004c0011t0003 a0004c0011t0005 a0007c0028t0003	a0001c0003t0001g0031 a0001c0003t0003g0047 a0001c0003t0008g0049 others(9): Show a0001c0003t0001g0031 a0001c0003t0003g0047 a0001c0003t0008g0049 a0001c0003t0016g0046 a0002c0006t0007g0018 a0002c0021t0001g0012 a0002c0022t0018g0020 a0003c0009t0002g0034 a0003c0009t0009g0039 a0004c0011t0003g0043 a0004c0011t0005g0044 a0007c0028t0003g0007	12	54	0.2222	22	c.304 others(43): Show c.3045-10398_3045-10397insGTATATATATACGTATATATAC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	20/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205607831	T T	TACACCCA others(15): Show TACACCCATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	54	0.0185	22	c.326 others(41): Show c.3261-7621_3261-7620insCCATACACACACACACACACAC	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34145221	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02886.hp2 HG00741.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0017 a0001c0002t0002 a0001c0001t0017 a0001c0002t0002	a0001c0001t0017g0040 a0001c0002t0002g0039 a0001c0001t0017g0040 a0001c0002t0002g0039	2	100	0.0200	22	c.342 others(43): Show c.3420-13639_3420-13638insAAAAAAAAAATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34145221	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	100	0.0100	22	c.342 others(43): Show c.3420-13639_3420-13638insAAAAAAAAAAAATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227854	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03471.hp1 HG03486.hp2 HG03516.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0003 a0005c0016 a0001c0002 a0001c0003 a0005c0016	a0001c0002t0016 a0001c0003t0001 a0005c0016t0001 a0001c0002t0016 a0001c0003t0001 a0005c0016t0001	a0001c0002t0016g0025 a0001c0003t0001g0081 a0005c0016t0001g0052 a0001c0002t0016g0025 a0001c0003t0001g0081 a0005c0016t0001g0052	3	100	0.0300	22	c.341 others(43): Show c.3419+41802_3419+41803insTATATATATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227856	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0087 a0001c0003t0003g0087	1	100	0.0100	22	c.341 others(43): Show c.3419+41779_3419+41800dupTATATATATATATATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34227881	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	100	0.0100	22	c.341 others(43): Show c.3419+41775_3419+41776insGTATATATATATATATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34413180	C C	CACACACA others(15): Show CACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG03098.hp1 others(1): Show HG02559.hp1 HG02922.hp2 HG03098.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0002 a0001c0003t0004	a0001c0003t0002g0036 a0001c0003t0004g0034 a0001c0003t0004g0035 others(1): Show a0001c0003t0002g0036 a0001c0003t0004g0034 a0001c0003t0004g0035 a0001c0003t0004g0038	4	100	0.0400	22	c.715 others(41): Show c.715-11264_715-11263insATGTGTGTGTGTGTGTGTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	5/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34565260	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0057	1	100	0.0100	22	c.223 others(41): Show c.223-48123_223-48102dupAAAAAAAAAAAAAAAAAAAAAA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34666816	T T	TATATATA others(15): Show TATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	100	0.0100	22	c.222 others(41): Show c.222+29501_222+29502insGTGTATATATATATATATATAT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD6G_chr18_80152232_80252514	80195548	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp1 HG02486.hp1 others(5): Show HG01255.hp2 HG02109.hp1 HG02486.hp1 HG02723.hp1 HG03098.hp1 HG03669.hp2 NA18983.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0002t0006	a0001c0001t0005g0340 a0001c0001t0006g0258 a0001c0001t0027g0368 others(5): Show a0001c0001t0005g0340 a0001c0001t0006g0258 a0001c0001t0027g0368 a0001c0002t0001g0320 a0001c0002t0006g0278 a0001c0002t0006g0279 a0001c0002t0006g0313 a0001c0002t0006g0314	8	382	0.0209	22	c.295 others(39): Show c.295+7140_295+7161dupATATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARD6G_chr18_80152232_80252514	80195572	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00642.hp2 NA19043.hp1 HG00642.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0015 a0001c0002t0011 a0001c0002t0015	a0001c0002t0011g0370 a0001c0002t0015g0186 a0001c0002t0011g0370 a0001c0002t0015g0186	2	382	0.0052	22	c.295 others(39): Show c.295+7137_295+7138insGTATATATATATATATATATAT	PARD6G	ENSG00000178184.16	transcript	ENST00000353265.8	protein_coding	2/2			chr18	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(15): Show ATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	292	0.0034	22	c.173 others(41): Show c.1738-6329_1738-6328insAAAAAAAAAAAATATATATATA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02027.hp2 HG01255.hp1 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0020 a0001c0001t0002 a0001c0001t0020	a0001c0001t0002g0133 a0001c0001t0020g0045 a0001c0001t0002g0133 a0001c0001t0020g0045	2	169	0.0118	22	c.148 others(43): Show c.1481-18630_1481-18609dupTTTTTTTTTTTTTTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	366	0.0027	22	c.-33 others(33): Show c.-3319_-3318insAAAAAAAAAAATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	366	0.0027	22	c.-33 others(33): Show c.-3319_-3318insAAAAATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP2_chr14_20338635_20362904	20347356	G G	GTGTATAT others(15): Show GTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0168 a0001c0002t0002g0168	1	420	0.0024	22	c.324 others(37): Show c.324+444_324+445insGTATATATATATATATATATAT	PARP2	ENSG00000129484.14	transcript	ENST00000429687.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
PARP2_chr14_20338635_20362904	20347356	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	420	0.0024	22	c.324 others(37): Show c.324+444_324+445insGTGTATATATATATATATATAT	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(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02486.hp1 HG02738.hp2 others(1): Show HG00140.hp1 HG02486.hp1 HG02738.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0056 a0002c0002t0001g0186 a0002c0002t0001g0190 others(1): Show a0002c0002t0001g0056 a0002c0002t0001g0186 a0002c0002t0001g0190 a0002c0002t0001g0353	4	362	0.0111	22	c.256 others(39): Show c.2563-290_2563-269dupATATATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP4_chr13_24415931_24517778	24455506	T T	TATATATA others(15): Show TATATATATATATATATATCACA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01981.hp2 HG02027.hp2 others(4): Show HG01175.hp2 HG01981.hp2 HG02027.hp2 HG02129.hp1 HG02523.hp2 HG04199.hp1 NA18946.hp1	a0006 a0009 a0021 a0006 a0009 a0021	a0006c0006 a0009c0010 a0021c0028 a0006c0006 a0009c0010 a0021c0028	a0006c0006t0001 a0009c0010t0003 a0021c0028t0001 a0006c0006t0001 a0009c0010t0003 a0021c0028t0001	a0006c0006t0001g0344 a0009c0010t0003g0014 a0009c0010t0003g0015 others(4): Show a0006c0006t0001g0344 a0009c0010t0003g0014 a0009c0010t0003g0015 a0009c0010t0003g0016 a0009c0010t0003g0017 a0009c0010t0003g0019 a0021c0028t0001g0326	7	362	0.0193	22	c.256 others(39): Show c.2563-295_2563-294insTGTGATATATATATATATATAT	PARP4	ENSG00000102699.6	transcript	ENST00000381989.4	protein_coding	21/33			chr13	TogoVar
PARP8_chr5_50661637_50851519	50754116	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01433.hp2 others(6): Show HG00738.hp2 HG01081.hp1 HG01433.hp2 NA18951.hp2 NA18987.hp1 NA19001.hp2 NA19062.hp1 NA19081.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0001 a0001c0003t0001 a0002c0005t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0005t0002 a0002c0005t0009	a0001c0001t0001g0064 a0001c0001t0001g0278 a0001c0001t0001g0285 others(6): Show a0001c0001t0001g0064 a0001c0001t0001g0278 a0001c0001t0001g0285 a0001c0001t0001g0291 a0001c0001t0001g0308 a0001c0003t0001g0252 a0002c0005t0002g0279 a0002c0005t0009g0280 a0002c0005t0009g0281	9	328	0.0274	22	c.184 others(39): Show c.184+3942_184+3963dupTATATATATATATATATATATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50754124	T T	TATATATA others(15): Show TATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	328	0.0031	22	c.184 others(39): Show c.184+3957_184+3958insCATATATATATATATATATATA	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(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0026 a0001c0004t0005g0026	1	328	0.0031	22	c.184 others(39): Show c.184+3963_184+3964insTATATATATATATACACACACA	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(15): Show TATATATATATATATACATATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02965.hp2 HG01884.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0315 a0001c0001t0008g0316 a0001c0001t0008g0315 a0001c0001t0008g0316	2	328	0.0061	22	c.184 others(39): Show c.184+3963_184+3964insTATATATATATATACATATACA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARP8_chr5_50661637_50851519	50849033	T T	TGTGTGTG others(15): Show TGTGTGTGTGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0009 a0002c0005t0009	a0002c0005t0009g0275 a0002c0005t0009g0275	1	328	0.0031	22	c.69 others(33): Show c.6965_*6966insGTGTGTGTGAGAGAGAGAGAGA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding		2515		chr5	TogoVar

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