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
PACSIN2_chr22_42864773_43020149	42889373	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00621.hp2 HG01258.hp2 others(4): Show HG00408.hp1 HG00621.hp2 HG01258.hp2 HG02165.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 others(4): Show a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0112 a0001c0001t0001g0122	7	294	0.0238	26	c.454 others(41): Show c.454-601_454-576dupGTGTGTGTGTGTGTGTGTGTGTGTGT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	4/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	42982889	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	294	0.0034	26	c.-78 others(45): Show c.-78+32131_-78+32132insGTTTTTTTTTTTTTTTTTTTTTTTTT	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03669.hp2 HG00741.hp2 HG03669.hp2	a0001 a0001	a0001c0002 a0001c0018 a0001c0002 a0001c0018	a0001c0002t0001 a0001c0018t0001 a0001c0002t0001 a0001c0018t0001	a0001c0002t0001g0200 a0001c0018t0001g0019 a0001c0002t0001g0200 a0001c0018t0001g0019	2	406	0.0049	26	c.43 others(37): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PADI3_chr1_17244098_17289233	17248636	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG03669.hp2 HG00741.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0079 a0001c0002t0001g0082 a0001c0001t0004g0079 a0001c0002t0001g0082	2	368	0.0054	26	c.-50 others(35): Show c.-502_-501insAAAAAAAAAAAAAAAAAAAAAAAAAA	PADI3	ENSG00000142619.4	transcript	ENST00000375460.3	protein_coding		461		chr1	TogoVar
PADI6_chr1_17367196_17406699	17379111	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	412	0.0024	26	c.368 others(41): Show c.368-788_368-787insTTTTTTTTTTTTTTTTTTTTTTTTTT	PADI6	ENSG00000276747.1	transcript	ENST00000619609.1	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(19): Show GTTTGTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG03491.hp1 HG03579.hp2 HG02622.hp2 HG03491.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0096 a0001c0001t0027g0100 a0001c0001t0027g0101 a0001c0001t0027g0096 a0001c0001t0027g0100 a0001c0001t0027g0101	3	432	0.0069	26	c.75 others(35): Show c.750_*751insGTTTTTTTTTTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAGE1_chrX_49682447_49700984	49689673	C C	CATATATG others(19): Show CATATATGTGTGTATATATATACACAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01192.hp1 HG04199.hp1 others(1): Show HG01168.hp1 HG01192.hp1 HG04199.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0196	4	322	0.0124	26	c.293 others(41): Show c.293-156_293-131dupATGTGTATATATATACACACATATAT	PAGE1	ENSG00000068985.5	transcript	ENST00000376150.4	protein_coding	4/5			chrX	TogoVar
PAH_chr12_102831889_102922244	102868188	A A	ATATACAC others(19): Show ATATACACATATATATACATATATGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0018 a0001c0008t0018	a0001c0008t0018g0215 a0001c0008t0018g0215	1	312	0.0032	26	c.442 others(43): Show c.442-1526_442-1525insCACATATATGTATATATATGTGTATA	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	4/12			chr12	TogoVar
PAICS_chr4_56431260_56469578	56438378	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	380	0.0026	26	c.16+ others(41): Show c.16+2052_16+2077dupTATATATATATATATATATATATAAA	PAICS	ENSG00000128050.9	transcript	ENST00000512576.3	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	302	0.0033	26	c.-21 others(45): Show c.-21-36541_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(19): Show ATATATATATATATATATAAAAATTAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 homoSapiens_chm13v2.hp1 HG02622.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0085 a0001c0001t0017g0103 a0001c0001t0002g0085 a0001c0001t0017g0103	2	178	0.0112	26	c.-22 others(45): Show c.-22+11538_-22+11539insTATATATATATATATATAAAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(19): Show ATATATATATATATATATATAAATTAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0010 a0005c0006t0010	a0005c0006t0010g0104 a0005c0006t0010g0104	1	178	0.0056	26	c.-22 others(45): Show c.-22+11538_-22+11539insTATATATATATATATATATAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196811324	T T	TTTCCTTC others(19): Show TTTCCTTCCTTCCTTCCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0046 a0001c0001t0041g0046	1	178	0.0056	26	c.773 others(41): Show c.773+672_773+673insTCCTTCCTTCCTTCCCTTCCCTCCCT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833460	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0021 a0001c0001t0045g0021	1	178	0.0056	26	c.50 others(37): Show c.5055_*5056insATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		814		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833464	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	178	0.0056	26	c.50 others(37): Show c.5059_*5060insATATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		818		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833491	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0093 a0001c0001t0068g0093	1	178	0.0056	26	c.50 others(37): Show c.5086_*5087insTATATATATATATATATATATTTATT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		845		chr3	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02630.hp1 HG02683.hp1 others(11): Show HG00438.hp1 HG02630.hp1 HG02683.hp1 HG03831.hp1 HG04228.hp2 NA18906.hp1 NA18946.hp2 NA18952.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp1 NA18995.hp2 NA19030.hp2 NA19082.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0010 others(3): Show a0001c0002 a0001c0004 a0001c0010 a0002c0001 a0002c0007 a0003c0003	a0001c0002t0003 a0001c0004t0004 a0001c0004t0018 others(6): Show a0001c0002t0003 a0001c0004t0004 a0001c0004t0018 a0001c0010t0019 a0002c0001t0001 a0002c0001t0005 a0002c0007t0005 a0003c0003t0003 a0003c0003t0015	a0001c0002t0003g0087 a0001c0004t0004g0018 a0001c0004t0004g0051 others(11): Show a0001c0002t0003g0087 a0001c0004t0004g0018 a0001c0004t0004g0051 a0001c0004t0004g0070 a0001c0004t0018g0040 a0001c0010t0019g0082 a0002c0001t0001g0187 a0002c0001t0001g0197 a0002c0001t0005g0055 a0002c0001t0005g0176 a0002c0007t0005g0061 a0003c0003t0003g0054 a0003c0003t0003g0199 a0003c0003t0015g0123	14	208	0.0673	26	c.-16 others(47): Show c.-162+35851_-162+35852insTATATATATATATATATATATATA TA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTAT others(19): Show GTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00597.hp2 others(21): Show HG00140.hp1 HG00408.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp1 HG02056.hp2 HG02155.hp1 HG02258.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02896.hp2 HG03041.hp2 NA18943.hp2 NA18952.hp2 NA18954.hp1 NA18972.hp1 NA18988.hp2 NA19012.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0001c0005 others(2): Show a0001c0002 a0001c0004 a0001c0005 a0002c0001 a0003c0003	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(10): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0004t0004 a0001c0005t0010 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0001t0011 a0003c0003t0003 a0003c0003t0006 a0003c0003t0012	a0001c0002t0002g0152 a0001c0002t0003g0011 a0001c0002t0006g0005 others(21): Show a0001c0002t0002g0152 a0001c0002t0003g0011 a0001c0002t0006g0005 a0001c0002t0007g0120 a0001c0004t0004g0112 a0001c0004t0004g0171 a0001c0005t0010g0069 a0002c0001t0001g0012 a0002c0001t0001g0015 a0002c0001t0001g0048 a0002c0001t0001g0085 a0002c0001t0001g0121 a0002c0001t0005g0063 a0002c0001t0005g0097 a0002c0001t0005g0173 a0002c0001t0009g0106 a0002c0001t0009g0117 a0002c0001t0009g0118 a0002c0001t0011g0065 a0002c0001t0011g0145 a0003c0003t0003g0114 a0003c0003t0003g0144 a0003c0003t0006g0080 a0003c0003t0012g0057	24	208	0.1154	26	c.-16 others(47): Show c.-162+35851_-162+35852insTATATATATATATATATATATACA CA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03453.hp2 HG01516.hp1 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0007 a0002c0001 a0002c0007	a0002c0001t0005 a0002c0007t0005 a0002c0001t0005 a0002c0007t0005	a0002c0001t0005g0007 a0002c0007t0005g0141 a0002c0001t0005g0007 a0002c0007t0005g0141	2	208	0.0096	26	c.-16 others(47): Show c.-162+35851_-162+35852insTATATATATATATATATATACACA CA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PALB2_chr16_23598165_23646310	23608797	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19088.hp2 HG02922.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0267 a0002c0002t0001g0244 a0002c0002t0001g0267	2	326	0.0061	26	c.320 others(43): Show c.3202-786_3202-785insGTGTGTGTGTGTGTGTGTGTGTGTGT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	11/12			chr16	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01169.hp1 HG02258.hp2 HG01106.hp2 HG01169.hp1 HG02258.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0003 a0001c0004t0010 a0003c0003t0003 a0001c0001t0003 a0001c0004t0010 a0003c0003t0003	a0001c0001t0003g0200 a0001c0004t0010g0287 a0003c0003t0003g0104 a0001c0001t0003g0200 a0001c0004t0010g0287 a0003c0003t0003g0104	3	308	0.0097	26	c.-29 others(45): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70556279	C C	CCTCCCTC others(19): Show CCTCCCTCTCTCCCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02886.hp1 HG02922.hp2 others(1): Show HG01070.hp1 HG02886.hp1 HG02922.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0028 a0001c0001t0007 a0001c0001t0028	a0001c0001t0007g0186 a0001c0001t0007g0192 a0001c0001t0007g0285 others(1): Show a0001c0001t0007g0186 a0001c0001t0007g0192 a0001c0001t0007g0285 a0001c0001t0028g0237	4	308	0.0130	26	c.226 others(45): Show c.2263-8082_2263-8081insCCTCTCTCCCTCTCTCTCTCTCTCTC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168600054	T T	TATATACA others(19): Show TATATACATACATGTGTATACACACAC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01175.hp1 HG00735.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0019 a0001c0002t0003g0018 a0001c0002t0003g0019	2	156	0.0128	26	c.909 others(45): Show c.909-68130_909-68105dupCATACATGTGTATACACACACATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(19): Show GATAGATAGATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0107 a0001c0002t0010g0107	1	156	0.0064	26	c.909 others(45): Show c.909-42685_909-42684insGATAGATATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168625502	G G	GATAGATA others(19): Show GATAGATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02602.hp1 HG02965.hp2 others(2): Show HG02300.hp1 HG02602.hp1 HG02965.hp2 HG03225.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0003t0003	a0001c0001t0001g0001 a0001c0001t0003g0016 a0001c0001t0004g0002 others(2): Show a0001c0001t0001g0001 a0001c0001t0003g0016 a0001c0001t0004g0002 a0001c0001t0005g0097 a0002c0003t0003g0033	5	156	0.0321	26	c.909 others(45): Show c.909-42685_909-42684insGATATATATATATATATATATATATA	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(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0006 a0003c0008t0006	a0003c0008t0006g0152 a0003c0008t0006g0152	1	156	0.0064	26	c.909 others(45): Show c.909-42672_909-42671insATATATATATATATATATATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	156	0.0064	26	c.196 others(47): Show c.1964+47280_1964+47281insAAAAAAAAAAAAAATATATATATA TA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785844	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0064 a0001c0001t0008g0064	1	156	0.0064	26	c.196 others(47): Show c.1964+73922_1964+73923insTATATATATATATATATATATATA TA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785846	G G	GATATATA others(19): Show GATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02559.hp1 NA19240.hp2 HG00735.hp2 HG02559.hp1 NA19240.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0003 a0004c0011 a0001c0001 a0002c0003 a0004c0011	a0001c0001t0012 a0002c0003t0003 a0004c0011t0001 a0001c0001t0012 a0002c0003t0003 a0004c0011t0001	a0001c0001t0012g0065 a0002c0003t0003g0033 a0004c0011t0001g0083 a0001c0001t0012g0065 a0002c0003t0003g0033 a0004c0011t0001g0083	3	156	0.0192	26	c.196 others(47): Show c.1964+73929_1964+73954dupTATATATATATATATATATATATA TA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793169	A A	ATGTGTGC others(19): Show ATGTGTGCATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0004 a0003c0008t0004	a0003c0008t0004g0052 a0003c0008t0004g0052	1	156	0.0064	26	c.196 others(47): Show c.1964+81251_1964+81276dupTGCATATATATACATATATATGTG TG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793193	A A	ATGTGTGC others(19): Show ATGTGTGCATATATATACATATATATG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0004 a0004c0009t0004	a0004c0009t0004g0038 a0004c0009t0004g0038	1	156	0.0064	26	c.196 others(47): Show c.1964+81275_1964+81300dupTGCATATATATACATATATATGTG TG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109780227	G G	GGCGGCGG others(19): Show GGCGGCGGCGACCGGGAGATGCAGTGA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0094 a0002c0002t0016g0094	1	222	0.0045	26	c.-25 others(35): Show c.-252_-227dupACCGGGAGATGCAGTGAGCGGCGGCG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/11	226	INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(19): Show CATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02280.hp1 HG02886.hp1 others(4): Show HG00621.hp2 HG02280.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG03453.hp2 HG04115.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0007 a0004c0005 a0001c0001 a0001c0007 a0004c0005	a0001c0001t0001 a0001c0007t0001 a0004c0005t0002 a0001c0001t0001 a0001c0007t0001 a0004c0005t0002	a0001c0001t0001g0077 a0001c0001t0001g0141 a0001c0001t0001g0158 others(4): Show a0001c0001t0001g0077 a0001c0001t0001g0141 a0001c0001t0001g0158 a0001c0007t0001g0030 a0001c0007t0001g0166 a0001c0007t0001g0213 a0004c0005t0002g0178	7	222	0.0315	26	c.583 others(45): Show c.583-59616_583-59615insTATATATATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99683056	G G	GAAAGAAA others(19): Show GAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0296 a0001c0005t0001g0296	1	380	0.0026	26	c.252 others(43): Show c.252-3619_252-3618insAAGAAAGAAAGAAAGAAAGAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp2 HG02135.hp1 others(1): Show HG01243.hp2 HG01496.hp2 HG02135.hp1 NA18979.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0022 a0001c0002t0040 others(1): Show a0001c0002t0005 a0001c0002t0022 a0001c0002t0040 a0001c0002t0064	a0001c0002t0005g0307 a0001c0002t0022g0339 a0001c0002t0040g0309 others(1): Show a0001c0002t0005g0307 a0001c0002t0022g0339 a0001c0002t0040g0309 a0001c0002t0064g0334	4	378	0.0106	26	c.118 others(43): Show c.118-3393_118-3368dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102842205	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA20300.hp1 HG02970.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0002 a0001c0001t0001 a0004c0007t0002	a0001c0001t0001g0106 a0004c0007t0002g0038 a0001c0001t0001g0106 a0004c0007t0002g0038	2	188	0.0106	26	c.-37 others(47): Show c.-373-23596_-373-23595insATATATATATATATATATATATAT AT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG02080.hp2 others(6): Show HG01167.hp1 HG01169.hp2 HG02080.hp2 HG02486.hp2 HG03831.hp1 NA19004.hp1 NA19056.hp2 NA19057.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0140 others(6): Show a0001c0001t0001g0123 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0002g0109 a0001c0002t0002g0015 a0001c0002t0002g0074 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0125	9	188	0.0479	26	c.211 others(45): Show c.211-16261_211-16260insTATATATATATATATATATATATAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28139514	T T	TTGTGTGT others(19): Show TTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0248 a0001c0001t0008g0248	1	252	0.0040	26	c.430 others(41): Show c.430+439_430+464dupGTGTGTGTGTGTGTGTGTGTGTGTGT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK2_chr20_3884387_3934887	3902972	G G	GACACACA others(19): Show GACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02280.hp2 HG01433.hp1 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0074 a0001c0001t0015 a0001c0001t0074	a0001c0001t0015g0300 a0001c0001t0074g0299 a0001c0001t0015g0300 a0001c0001t0074g0299	2	422	0.0047	26	c.299 others(43): Show c.299-4933_299-4908dupACACACACACACACACACACACACAC	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	416	0.0024	26	c.635 others(41): Show c.635+144_635+145insATATATATATATATATATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	416	0.0024	26	c.635 others(41): Show c.635+144_635+145insATATATATATATATATATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569026	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	416	0.0024	26	c.29- others(37): Show c.29-29_29-28insATATATATATATATATATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01071.hp2 HG00733.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	416	0.0048	26	c.29- others(37): Show c.29-33_29-32insATATATATATATATATATATATTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0064 a0001c0001t0012g0064	1	416	0.0024	26	c.29- others(41): Show c.29-4444_29-4419dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PAPOLG_chr2_60751268_60807086	60783500	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0293 a0001c0001t0006g0293	1	328	0.0031	26	c.116 others(43): Show c.1166+294_1166+319dupTTTTTTTTTTTTTTTTTTTTTTTTTT	PAPOLG	ENSG00000115421.13	transcript	ENST00000238714.8	protein_coding	13/21		INFO_REALIGN_3_PRIME	chr2	TogoVar
PAPPA_chr9_116148791_116407321	116156322	A A	ATATATAT others(19): Show ATATATATATGTGTATATATATATATG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0018 a0002c0004t0018	a0002c0004t0018g0222 a0002c0004t0018g0222	1	234	0.0043	26	c.415 others(43): Show c.415+1745_415+1770dupGTGTATATATATATATGTATATATAT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS2_chr10_87654878_87752705	87688443	T T	TTTTATTT others(19): Show TTTTATTTTATTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01884.hp2 HG02572.hp2 others(5): Show HG01081.hp1 HG01884.hp2 HG02572.hp2 HG03654.hp1 NA19030.hp1 NA19070.hp2 NA19088.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0019 a0001c0001t0025 a0001c0001t0063	a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0004g0168 others(5): Show a0001c0001t0001g0079 a0001c0001t0002g0003 a0001c0001t0004g0168 a0001c0001t0007g0034 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0025g0305 a0001c0001t0063g0325	8	372	0.0215	26	c.28- others(43): Show c.28-20746_28-20745insTATTTTATTTATTTATTTATTTATTT	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(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG03041.hp2 HG00597.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0052 a0001c0001t0001 a0001c0001t0052	a0001c0001t0001g0053 a0001c0001t0052g0159 a0001c0001t0001g0053 a0001c0001t0052g0159	2	372	0.0054	26	c.28- others(41): Show c.28-3087_28-3086insATATATATATATATATATATATATAT	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(19): Show ATATATATATATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	372	0.0027	26	c.28- others(41): Show c.28-3087_28-3086insATATATATATATATATATGTGTGTGT	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(19): Show ATATATATATATATATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02818.hp1 HG02965.hp2 others(2): Show HG01433.hp1 HG02818.hp1 HG02965.hp2 HG03130.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0050 a0001c0001t0057 others(1): Show a0001c0001t0009 a0001c0001t0050 a0001c0001t0057 a0001c0001t0061	a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0050g0167 others(2): Show a0001c0001t0009g0212 a0001c0001t0009g0213 a0001c0001t0050g0167 a0001c0001t0057g0154 a0001c0001t0061g0217	5	372	0.0134	26	c.28- others(41): Show c.28-3087_28-3086insATATATATATATATGTGTGTGTGTGT	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr10	TogoVar

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