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
PAK3_chrX_111091191_111232361	111096869	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	195	0.0051	22	c.-35 others(39): Show c.-353+475_-352-479dupACACACACACACACACACACAC	PAK3	ENSG00000077264.17	transcript	ENST00000372007.10	protein_coding	1/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
PAK5_chr20_9532370_9844076	9734552	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0064 a0001c0005t0010g0064	1	208	0.0048	22	c.-16 others(43): Show c.-161-23139_-161-23118dupTGTGTGTGTGTGTGTGTGTGTG	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00673.hp2 HG01433.hp1 others(14): Show HG00642.hp2 HG00673.hp2 HG01433.hp1 HG02080.hp2 HG02602.hp1 HG02683.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03098.hp2 HG04115.hp1 HG04228.hp1 NA18949.hp2 NA18957.hp2 NA19007.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0002 a0001c0004 a0002c0001 others(3): Show a0001c0002 a0001c0004 a0002c0001 a0003c0003 a0005c0014 a0006c0016	a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 others(8): Show a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0017 a0001c0004t0004 a0002c0001t0001 a0002c0001t0011 a0002c0001t0014 a0003c0003t0006 a0005c0014t0004 a0006c0016t0008	a0001c0002t0002g0049 a0001c0002t0002g0201 a0001c0002t0002g0202 others(14): Show a0001c0002t0002g0049 a0001c0002t0002g0201 a0001c0002t0002g0202 a0001c0002t0004g0188 a0001c0002t0006g0004 a0001c0002t0017g0153 a0001c0004t0004g0046 a0001c0004t0004g0179 a0002c0001t0001g0037 a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0156 a0002c0001t0011g0100 a0002c0001t0014g0128 a0003c0003t0006g0093 a0005c0014t0004g0122 a0006c0016t0008g0138	17	208	0.0817	22	c.-16 others(43): Show c.-162+35830_-162+35851dupTATATATATATATATATATATA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01981.hp2 others(11): Show HG00738.hp2 HG00741.hp2 HG01981.hp2 HG02486.hp2 HG02630.hp2 HG03017.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG06807.hp2 NA18973.hp2 NA18993.hp1 NA18993.hp2 NA19010.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0004 a0001c0006 others(5): Show a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0002c0001 a0002c0015 a0003c0003 a0004c0008	a0001c0002t0002 a0001c0002t0007 a0001c0002t0025 others(9): Show a0001c0002t0002 a0001c0002t0007 a0001c0002t0025 a0001c0004t0004 a0001c0006t0003 a0001c0009t0003 a0002c0001t0001 a0002c0001t0005 a0002c0001t0009 a0002c0015t0001 a0003c0003t0024 a0004c0008t0001	a0001c0002t0002g0198 a0001c0002t0007g0068 a0001c0002t0025g0206 others(11): Show a0001c0002t0002g0198 a0001c0002t0007g0068 a0001c0002t0025g0206 a0001c0004t0004g0193 a0001c0006t0003g0160 a0001c0009t0003g0168 a0002c0001t0001g0013 a0002c0001t0001g0039 a0002c0001t0001g0172 a0002c0001t0005g0161 a0002c0001t0009g0042 a0002c0015t0001g0090 a0003c0003t0024g0182 a0004c0008t0001g0092	14	208	0.0673	22	c.-16 others(43): Show c.-162+35851_-162+35852insTATATATATATATATATACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK5_chr20_9532370_9844076	9802910	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	208	0.0048	22	c.-16 others(43): Show c.-162+35851_-162+35852insTATATATATATATATACACACA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG02165.hp1 others(1): Show HG00558.hp1 HG00738.hp1 HG02165.hp1 HG03942.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0007 a0001c0001 a0003c0004 a0003c0007	a0001c0001t0019 a0003c0004t0079 a0003c0007t0006 a0001c0001t0019 a0003c0004t0079 a0003c0007t0006	a0001c0001t0019g0336 a0003c0004t0079g0354 a0003c0007t0006g0007 a0001c0001t0019g0336 a0003c0004t0079g0354 a0003c0007t0006g0007	4	426	0.0094	22	c.187 others(39): Show c.1879-646_1879-625dupTTTTTTTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALB2_chr16_23598165_23646310	23608797	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp1 HG02257.hp1 others(6): Show HG02056.hp2 HG02080.hp1 HG02257.hp1 HG02572.hp1 HG02647.hp2 HG02897.hp2 NA19030.hp1 NA19060.hp2 NA19068.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0002	a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0275 others(6): Show a0002c0002t0001g0255 a0002c0002t0001g0257 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0284 a0003c0003t0002g0041 a0003c0003t0002g0043 a0003c0003t0002g0044 a0003c0003t0002g0045	9	326	0.0276	22	c.320 others(39): Show c.3202-786_3202-785insGTGTGTGTGTGTGTGTGTGTGT	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding	11/12			chr16	TogoVar
PALB2_chr16_23598165_23646310	23645083	C C	CTATATCT others(15): Show CTATATCTATATCTATATCTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	326	0.0031	22	c.-39 others(33): Show c.-3927_-3926insTATAGATATAGATATAGATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3774		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	326	0.0031	22	c.-39 others(33): Show c.-3981_-3980insAATATATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(15): Show ATATATATATATATATATTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	326	0.0031	22	c.-39 others(33): Show c.-3981_-3980insAAAAAATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0020	1	326	0.0031	22	c.-39 others(33): Show c.-3981_-3980insAAAAAAAATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70501813	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01074.hp2 HG01106.hp1 others(13): Show HG00140.hp2 HG01074.hp2 HG01106.hp1 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01358.hp2 HG02055.hp1 HG02280.hp2 HG02698.hp2 HG03225.hp1 HG03239.hp2 HG03540.hp1 HG04228.hp1 NA20905.hp1	a0001 a0004 a0016 a0001 a0004 a0016	a0001c0001 a0004c0005 a0016c0019 a0001c0001 a0004c0005 a0016c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0025 a0001c0001t0044 a0004c0005t0005 a0004c0005t0013 a0004c0005t0029 a0016c0019t0012	a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0169 others(13): Show a0001c0001t0001g0074 a0001c0001t0001g0084 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0191 a0001c0001t0001g0253 a0001c0001t0003g0070 a0001c0001t0025g0247 a0001c0001t0044g0267 a0004c0005t0005g0071 a0004c0005t0005g0103 a0004c0005t0005g0202 a0004c0005t0005g0302 a0004c0005t0013g0278 a0004c0005t0029g0232 a0016c0019t0012g0233	16	308	0.0520	22	c.-30 others(41): Show c.-30+22755_-30+22776dupTGTGTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70501834	T T	TGTGTGTG others(15): Show TGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18612.hp2 NA19000.hp1 others(1): Show HG04199.hp2 NA18612.hp2 NA19000.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0001c0001t0040	a0001c0001t0001g0108 a0001c0001t0004g0194 a0001c0001t0012g0258 others(1): Show a0001c0001t0001g0108 a0001c0001t0004g0194 a0001c0001t0012g0258 a0001c0001t0040g0001	4	308	0.0130	22	c.-30 others(41): Show c.-30+22776_-30+22777insTGTGTGTGTGTGTGTGTGCGCG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALD1_chr10_70473767_70573450	70508843	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18612.hp1 NA18952.hp2 HG02155.hp2 NA18612.hp1 NA18952.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0005c0009 a0002c0002 a0003c0003 a0005c0009	a0002c0002t0005 a0003c0003t0004 a0005c0009t0004 a0002c0002t0005 a0003c0003t0004 a0005c0009t0004	a0002c0002t0005g0140 a0003c0003t0004g0022 a0005c0009t0004g0152 a0002c0002t0005g0140 a0003c0003t0004g0022 a0005c0009t0004g0152	3	308	0.0097	22	c.-29 others(41): Show c.-29-17066_-29-17065insTGTGTGTGTGTGTGTGTGTGTG	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168600030	C C	CATACATG others(15): Show CATACATGTGTGTACACACACAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01952.hp1 others(13): Show HG00280.hp1 HG00642.hp1 HG01952.hp1 HG02148.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp1 HG02922.hp1 HG03041.hp2 HG03491.hp2 NA18964.hp1 NA18966.hp2 NA19001.hp2 NA19068.hp2 NA19074.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003 a0002c0010 a0002c0015 a0004c0009 a0004c0025	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0002t0007 a0001c0004t0002 a0002c0003t0002 a0002c0003t0006 a0002c0010t0001 a0002c0015t0016 a0004c0009t0003 a0004c0025t0005	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0068 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0004g0002 a0001c0001t0005g0140 a0001c0001t0008g0008 a0001c0001t0009g0105 a0001c0002t0007g0010 a0001c0004t0002g0130 a0002c0003t0002g0151 a0002c0003t0006g0113 a0002c0010t0001g0082 a0002c0015t0016g0035 a0004c0009t0003g0040 a0004c0025t0005g0101	16	156	0.1026	22	c.909 others(41): Show c.909-68154_909-68153insGTGTGTACACACACATATACAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168600030	C C	CATACATG others(15): Show CATACATGTGTGTACACACATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03540.hp2 HG03130.hp1 HG03540.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0001 a0003c0008t0006 a0001c0001t0001 a0003c0008t0006	a0001c0001t0001g0051 a0003c0008t0006g0152 a0001c0001t0001g0051 a0003c0008t0006g0152	2	156	0.0128	22	c.909 others(41): Show c.909-68154_909-68153insGTGTGTACACACATATATACAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168669800	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	156	0.0064	22	c.108 others(41): Show c.1087+1435_1087+1456dupCACACACACACACACACACACA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168785844	G G	GATATATA others(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0048 a0001c0004t0017g0048	1	156	0.0064	22	c.196 others(43): Show c.1964+73922_1964+73923insTATATATATATATATATATATA	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(15): Show GATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	156	0.0064	22	c.196 others(43): Show c.1964+73933_1964+73954dupTATATATATATATATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793164	T T	TATATATG others(15): Show TATATATGTGTGCATATATATAC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA19005.hp1 NA18964.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0055 a0001c0001t0002g0146 a0001c0001t0001g0055 a0001c0001t0002g0146	2	156	0.0128	22	c.196 others(43): Show c.1964+81248_1964+81269dupGTGTGCATATATATACATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168793332	T T	TATATATG others(15): Show TATATATGTGTGCATATATATAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02615.hp1 HG02897.hp1 others(1): Show HG02451.hp2 HG02615.hp1 HG02897.hp1 HG03540.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0009 a0001c0001 a0001c0004 a0004c0009	a0001c0001t0001 a0001c0001t0005 a0001c0004t0015 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0004t0015 a0004c0009t0004	a0001c0001t0001g0051 a0001c0001t0005g0091 a0001c0004t0015g0011 others(1): Show a0001c0001t0001g0051 a0001c0001t0005g0091 a0001c0004t0015g0011 a0004c0009t0004g0039	4	156	0.0256	22	c.196 others(43): Show c.1964+81430_1964+81451dupACATATATGTGTGCATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168794463	G G	GACGTACG others(15): Show GACGTACGTGCACACGCACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0056 a0008c0023t0001g0056	1	156	0.0064	22	c.196 others(43): Show c.1964+82543_1964+82564dupGTACGTGCACACGCACACACAC	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109819648	G G	GCCAGGGG others(15): Show GCCAGGGGTTTGAACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp1 HG00733.hp2 others(33): Show HG00438.hp2 HG00621.hp1 HG00733.hp2 HG00738.hp1 HG01074.hp1 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG02055.hp1 HG02083.hp1 HG02155.hp2 HG02602.hp1 HG02647.hp2 HG02895.hp2 HG02922.hp1 HG03688.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp2 NA18942.hp1 NA18950.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18992.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19011.hp2 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0009	a0001c0001 a0002c0002 a0002c0004 others(4): Show a0001c0001 a0002c0002 a0002c0004 a0003c0003 a0006c0009 a0007c0011 a0009c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0016 a0002c0002t0022 a0002c0002t0023 a0002c0002t0035 a0002c0004t0002 a0003c0003t0001 a0003c0003t0005 a0006c0009t0014 a0007c0011t0002 a0009c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0001t0001g0074 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0061 a0001c0001t0001g0074 a0001c0001t0001g0222 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0071 a0001c0001t0002g0221 a0001c0001t0013g0104 a0002c0002t0001g0054 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0118 a0002c0002t0003g0130 a0002c0002t0004g0058 a0002c0002t0004g0119 a0002c0002t0004g0211 a0002c0002t0004g0212 a0002c0002t0016g0094 a0002c0002t0022g0063 a0002c0002t0023g0055 a0002c0002t0035g0072 a0002c0004t0002g0065 a0002c0004t0002g0073 a0002c0004t0002g0210 a0002c0004t0002g0216 a0003c0003t0001g0062 a0003c0003t0001g0064 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0078 a0003c0003t0005g0070 a0006c0009t0014g0217 a0007c0011t0002g0218 a0009c0012t0001g0117	36	222	0.1622	22	c.45+ others(39): Show c.45+39118_45+39119insGGGGTTTGAACACACACACCCA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109844931	A A	ATGTGTGT others(15): Show ATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	222	0.0045	22	c.46- others(39): Show c.46-22553_46-22532dupTGTGTGTGTGTGTGTGTGTGTG	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	109969088	G G	GCACACAC others(15): Show GCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18950.hp1 HG00423.hp1 NA18950.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0002c0004t0002 a0001c0001t0001 a0002c0004t0002	a0001c0001t0001g0028 a0002c0004t0002g0073 a0001c0001t0001g0028 a0002c0004t0002g0073	2	222	0.0090	22	c.496 others(41): Show c.496+37064_496+37085dupACACACACACACACACACACAC	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110011014	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0166 a0001c0007t0001g0166	1	222	0.0045	22	c.497 others(39): Show c.497-4939_497-4938insAAAAAAAAAATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110076492	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG02451.hp2 others(5): Show HG01243.hp1 HG01346.hp1 HG02451.hp2 HG02602.hp1 HG03130.hp2 HG03195.hp2 NA18994.hp2 NA19010.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0002 others(1): Show a0001c0001 a0001c0007 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0007t0001 a0001c0007t0032 a0002c0002t0003 a0003c0003t0001	a0001c0001t0001g0202 a0001c0001t0002g0057 a0001c0007t0001g0048 others(5): Show a0001c0001t0001g0202 a0001c0001t0002g0057 a0001c0007t0001g0048 a0001c0007t0001g0149 a0001c0007t0032g0150 a0002c0002t0003g0133 a0003c0003t0001g0066 a0003c0003t0001g0092	8	222	0.0360	22	c.583 others(41): Show c.583-59616_583-59615insTATATATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	222	0.0045	22	c.583 others(37): Show c.583-962_583-961insAAAAAAAAAAAATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(15): Show AAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0028 a0001c0006t0028	a0001c0006t0028g0196 a0001c0006t0028g0196	1	222	0.0045	22	c.583 others(37): Show c.583-962_583-961insAAAAAAAATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01496.hp1 HG01884.hp2 others(4): Show HG01243.hp2 HG01496.hp1 HG01884.hp2 HG01952.hp1 HG02145.hp2 HG02257.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0127 others(4): Show a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0131 a0001c0001t0003g0139 a0001c0001t0003g0152	7	290	0.0241	22	c.367 others(39): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67284547	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0242 a0001c0001t0004g0242	1	290	0.0035	22	c.367 others(39): Show c.367+5030_367+5051dupAAAAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67323615	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0145 a0001c0001t0011g0145	1	290	0.0035	22	c.174 others(37): Show c.1741-86_1741-65dupATATATATATATATATATATAT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18973.hp2 NA19064.hp2 HG00673.hp2 NA18973.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0040 a0001c0002t0069 a0001c0002t0005 a0001c0002t0040 a0001c0002t0069	a0001c0002t0005g0320 a0001c0002t0040g0292 a0001c0002t0069g0315 a0001c0002t0005g0320 a0001c0002t0040g0292 a0001c0002t0069g0315	3	378	0.0079	22	c.118 others(39): Show c.118-3389_118-3368dupTTTTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PALS2_chr7_24568452_24699193	24691405	G G	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTGTATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0084 a0001c0001t0060g0084	1	378	0.0027	22	c.37 others(33): Show c.3792_*3793insGTGTGTGTGTGTGTGTATATAT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	12/12	3793	INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(15): Show TATATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0047 a0001c0002t0002g0047	1	188	0.0053	22	c.-37 others(43): Show c.-374+24571_-374+24572insTATATATATACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(15): Show TATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02895.hp1 HG02897.hp2 others(2): Show HG02055.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0104 others(2): Show a0001c0001t0001g0055 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0119	5	188	0.0266	22	c.-37 others(43): Show c.-374+24571_-374+24572insTATATATATATACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102779918	T T	TATATATA others(15): Show TATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02273.hp2 HG02572.hp1 others(3): Show HG01928.hp2 HG02273.hp2 HG02572.hp1 HG02738.hp2 HG03017.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0098 others(3): Show a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0098 a0001c0002t0001g0101 a0001c0002t0002g0064 a0001c0002t0004g0042	6	188	0.0319	22	c.-37 others(43): Show c.-374+24571_-374+24572insTATATATATATATACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102795189	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0009 a0001c0002t0002g0009	1	188	0.0053	22	c.-37 others(43): Show c.-374+39843_-374+39864dupAAAAAAAAAAAAAAAAAAAAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102836859	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03098.hp2 HG03139.hp1 HG02809.hp1 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0002t0002 a0001c0005t0002 a0001c0001t0002 a0001c0002t0002 a0001c0005t0002	a0001c0001t0002g0024 a0001c0002t0002g0027 a0001c0005t0002g0046 a0001c0001t0002g0024 a0001c0002t0002g0027 a0001c0005t0002g0046	3	188	0.0160	22	c.-37 others(43): Show c.-373-28946_-373-28925dupAGAGAGAGAGAGAGAGAGAGAG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102841406	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	188	0.0053	22	c.-37 others(43): Show c.-373-24399_-373-24378dupCACACACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102842205	A A	AATATATA others(15): Show AATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0031	1	188	0.0053	22	c.-37 others(43): Show c.-373-23617_-373-23596dupATATATATATATATATATATAT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881125	T T	TACATACA others(15): Show TACATACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0117 a0001c0001t0009g0117	1	188	0.0053	22	c.210 others(41): Show c.210+13736_210+13757dupTACACACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881129	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0056 a0001c0001t0002g0056	1	188	0.0053	22	c.210 others(41): Show c.210+13742_210+13763dupCACACACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102881129	T T	TATACACA others(15): Show TATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0046 a0001c0005t0002g0046	1	188	0.0053	22	c.210 others(41): Show c.210+13737_210+13738insTACACACACACACACACACACA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102885094	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02818.hp2 HG02896.hp1 others(3): Show HG02055.hp1 HG02818.hp2 HG02896.hp1 HG03540.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0029 others(3): Show a0001c0001t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0108 a0001c0002t0002g0133	6	188	0.0319	22	c.211 others(41): Show c.211-16261_211-16260insTATATATATATATATATATAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102950416	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	188	0.0053	22	c.802 others(37): Show c.802-298_802-277dupGTGTGTGTGTGTGTGTGTGTGT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	103007192	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	188	0.0053	22	c.201 others(39): Show c.2014+190_2014+211dupACACACACACACACACACACAC	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	19/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAN3_chr13_28133545_28300335	28139514	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0247 a0001c0001t0008g0247	1	252	0.0040	22	c.430 others(37): Show c.430+443_430+464dupGTGTGTGTGTGTGTGTGTGTGT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK2_chr20_3884387_3934887	3889760	G G	GCCCTGCC others(15): Show GCCCTGCCCCCCCTTCCGGCCCA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	422	0.0024	22	c.298 others(35): Show c.298+38_298+59dupCCCCCCCTTCCGGCCCACCCTG	PANK2	ENSG00000125779.24	transcript	ENST00000610179.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA18961.hp2 NA19082.hp2 HG02135.hp2 NA18961.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0099 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0099 a0001c0001t0007g0111 a0001c0001t0007g0112	3	416	0.0072	22	c.635 others(37): Show c.635+144_635+145insATATATTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar

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