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
PAFAH1B2_chr11_117139287_117176045	117149430	G G	GGTTTTTT others(10): Show GGTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0218 a0001c0001t0014g0218	1	432	0.0023	17	c.-7- others(32): Show c.-7-3011_-7-3010insGTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	1/5			chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117149430	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01517.hp1 HG02486.hp2 others(10): Show HG01258.hp2 HG01517.hp1 HG02486.hp2 HG03017.hp1 HG03486.hp2 HG03710.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp2 NA18955.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0014 a0001c0001t0025 others(2): Show a0001c0001t0006 a0001c0001t0014 a0001c0001t0025 a0001c0001t0089 a0001c0001t0091	a0001c0001t0006g0014 a0001c0001t0006g0034 a0001c0001t0006g0220 others(7): Show a0001c0001t0006g0014 a0001c0001t0006g0034 a0001c0001t0006g0220 a0001c0001t0014g0034 a0001c0001t0014g0216 a0001c0001t0014g0221 a0001c0001t0014g0226 a0001c0001t0025g0121 a0001c0001t0089g0210 a0001c0001t0091g0293	13	432	0.0301	17	c.-7- others(32): Show c.-7-2997_-7-2996insTTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117168446	G G	GTTTGTTT others(10): Show GTTTGTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0086 a0001c0001t0086	a0001c0001t0086g0051 a0001c0001t0086g0051	1	432	0.0023	17	c.75 others(26): Show c.750_*751insGTTTTTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding	6/6	751	INFO_REALIGN_3_PRIME	chr11	TogoVar
PAGE3_chrX_55253415_55269916	55262711	T T	TATATATA others(10): Show TATATATATATATATGTG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0037	1	333	0.0030	17	c.193 others(32): Show c.193+539_193+540insCACATATATATATATAT	PAGE3	ENSG00000204279.8	transcript	ENST00000374951.6	protein_coding	3/4			chrX	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02717.hp2 HG02723.hp1 others(2): Show HG02559.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0006t0002	a0001c0001t0001g0156 a0001c0001t0002g0011 a0001c0001t0004g0232 others(2): Show a0001c0001t0001g0156 a0001c0001t0002g0011 a0001c0001t0004g0232 a0001c0001t0006g0229 a0001c0006t0002g0211	5	312	0.0160	17	c.169 others(34): Show c.169-4957_169-4941dupTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	350	0.0029	17	c.125 others(36): Show c.1253-1794_1253-1778dupTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAIP1_chr5_43521267_43562077	43531676	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	350	0.0029	17	c.125 others(36): Show c.1253-1798_1253-1797insCTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77399858	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0024 a0001c0002t0008g0024	1	302	0.0033	17	c.-21 others(34): Show c.-21-7334_-21-7318dupTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	302	0.0033	17	c.-21 others(36): Show c.-21-36532_-21-36516dupTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196735294	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG04228.hp1 NA19005.hp2 HG01891.hp1 HG04228.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0047 a0001c0001t0004 a0001c0001t0009 a0001c0001t0047	a0001c0001t0004g0025 a0001c0001t0009g0023 a0001c0001t0047g0011 a0001c0001t0004g0025 a0001c0001t0009g0023 a0001c0001t0047g0011	3	178	0.0169	17	c.-48 others(28): Show c.-4885_-4884insAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		4562		chr3	TogoVar
PAK2_chr3_196734857_196837647	196759498	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0145 a0001c0001t0056g0145	1	178	0.0056	17	c.-22 others(36): Show c.-22+19364_-22+19380dupTTTTTTTTTTTTTTTTT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196808557	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0071 a0001c0001t0007g0071	1	178	0.0056	17	c.709 others(32): Show c.709+645_709+661dupAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833454	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0051	1	178	0.0056	17	c.50 others(28): Show c.5049_*5050insTATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		808		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833460	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0059 a0001c0001t0005g0059	1	178	0.0056	17	c.50 others(28): Show c.5055_*5056insTATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		814		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 NA18971.hp2 HG02074.hp1 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0141 a0001c0001t0001g0008 a0001c0001t0001g0141	2	178	0.0112	17	c.50 others(28): Show c.5063_*5064insTATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	178	0.0056	17	c.50 others(28): Show c.5065_*5066insTATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833472	A A	ATATATAT others(10): Show ATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	178	0.0056	17	c.50 others(28): Show c.5067_*5068insTATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		826		chr3	TogoVar
PAK4_chr19_39120786_39184404	39148466	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18948.hp1 NA18951.hp2 others(1): Show HG00558.hp1 NA18948.hp1 NA18951.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0325 a0001c0001t0002g0346 others(1): Show a0001c0001t0002g0309 a0001c0001t0002g0325 a0001c0001t0002g0346 a0001c0001t0002g0362	4	368	0.0109	17	c.-95 others(36): Show c.-95-19759_-95-19743dupTTTTTTTTTTTTTTTTT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
PAK4_chr19_39120786_39184404	39165554	A A	ATAAATAA others(10): Show ATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02056.hp2 NA19081.hp2 HG01358.hp2 HG02056.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0280 a0001c0001t0002g0337 a0001c0001t0003g0085 a0001c0001t0002g0280 a0001c0001t0002g0337 a0001c0001t0003g0085	3	368	0.0082	17	c.-95 others(34): Show c.-95-2676_-95-2675insTAAATAAATAAATAAAT	PAK4	ENSG00000130669.17	transcript	ENST00000360442.8	protein_coding	1/9			chr19	TogoVar
PAK5_chr20_9532370_9844076	9766326	T T	TTGAATAT others(10): Show TTGAATATATATATATTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0071 a0002c0001t0001g0071	1	208	0.0048	17	c.-16 others(38): Show c.-161-54892_-161-54891insGAATATATATATATTCA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG01167.hp2 others(1): Show HG01069.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0031 a0001c0001t0003 a0002c0003t0031	a0001c0001t0003g0001 a0002c0003t0031g0062 a0002c0003t0031g0359 a0001c0001t0003g0001 a0002c0003t0031g0062 a0002c0003t0031g0359	4	426	0.0094	17	c.187 others(34): Show c.1879-633_1879-632insGTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01070.hp2 HG01074.hp2 others(19): Show HG00323.hp1 HG01070.hp2 HG01074.hp2 HG01243.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01975.hp2 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG03453.hp2 NA18522.hp2 NA18974.hp1 NA19056.hp2 NA19070.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 others(13): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0023 a0001c0001t0029 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0044 a0001c0001t0061 a0001c0002t0010 a0001c0002t0024 a0001c0002t0059 a0002c0003t0014 a0003c0004t0014	a0001c0001t0010g0094 a0001c0001t0013g0223 a0001c0001t0013g0395 others(17): Show a0001c0001t0010g0094 a0001c0001t0013g0223 a0001c0001t0013g0395 a0001c0001t0014g0168 a0001c0001t0015g0080 a0001c0001t0015g0087 a0001c0001t0023g0323 a0001c0001t0029g0236 a0001c0001t0032g0219 a0001c0001t0033g0011 a0001c0001t0039g0182 a0001c0001t0039g0393 a0001c0001t0044g0178 a0001c0001t0061g0191 a0001c0002t0010g0084 a0001c0002t0010g0360 a0001c0002t0024g0264 a0001c0002t0059g0356 a0002c0003t0014g0057 a0003c0004t0014g0010	22	426	0.0516	17	c.187 others(34): Show c.1879-641_1879-625dupTTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PAK6_chr15_40234063_40282487	40275282	T T	TTTTTTTT others(10): Show TTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0124 a0001c0001t0023g0124	1	426	0.0024	17	c.187 others(34): Show c.1879-633_1879-632insGTTTGTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(10): Show ATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	326	0.0031	17	c.-39 others(28): Show c.-3981_-3980insATATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(10): Show ATATATATATATATATTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 NA18961.hp1 NA19011.hp1 HG01168.hp2 NA18961.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0001g0191 a0001c0001t0001g0145 a0001c0001t0001g0185 a0001c0001t0001g0191	3	326	0.0092	17	c.-39 others(28): Show c.-3981_-3980insAAATATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALB2_chr16_23598165_23646310	23645137	A A	ATATATAT others(10): Show ATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	326	0.0031	17	c.-39 others(28): Show c.-3981_-3980insAAAAAAAAATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70529208	G G	GCCCCCCC others(10): Show GCCCCCCCCCCCCCCCCC	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0067 a0001c0006t0003g0067	1	308	0.0033	17	c.186 others(29): Show c.186-19_186-3dupCCCCCCCCCCCCCCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168493783	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0081 a0001c0001t0004g0081	1	156	0.0064	17	c.-34 others(28): Show c.-3494_-3493insAAAAAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding		3268		chr4	TogoVar
PALLD_chr4_168492052_168933441	168527422	C C	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02257.hp1 HG02486.hp1 others(7): Show HG00642.hp1 HG02257.hp1 HG02486.hp1 HG03139.hp2 HG03239.hp1 HG03669.hp2 NA18906.hp1 NA19043.hp1 NA19240.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0006 a0002c0007 others(3): Show a0002c0003 a0002c0006 a0002c0007 a0002c0010 a0002c0015 a0002c0018	a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 others(7): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0006 a0002c0003t0009 a0002c0006t0007 a0002c0007t0002 a0002c0007t0014 a0002c0010t0006 a0002c0015t0016 a0002c0018t0007	a0002c0003t0001g0037 a0002c0003t0003g0033 a0002c0003t0006g0113 others(7): Show a0002c0003t0001g0037 a0002c0003t0003g0033 a0002c0003t0006g0113 a0002c0003t0009g0094 a0002c0006t0007g0046 a0002c0007t0002g0139 a0002c0007t0014g0030 a0002c0010t0006g0100 a0002c0015t0016g0035 a0002c0018t0007g0012	10	156	0.0641	17	c.908 others(36): Show c.908+15016_908+15032dupAAAAAAAAAAAAAAAAA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168681540	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG06807.hp2 NA18966.hp1 HG03225.hp2 HG06807.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0002c0003t0005 a0001c0001t0001 a0001c0001t0003 a0002c0003t0005	a0001c0001t0001g0026 a0001c0001t0003g0016 a0002c0003t0005g0133 a0001c0001t0001g0026 a0001c0001t0003g0016 a0002c0003t0005g0133	3	156	0.0192	17	c.115 others(34): Show c.1154+149_1154+165dupTTTTTTTTTTTTTTTTT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	156	0.0064	17	c.196 others(38): Show c.1964+47280_1964+47281insAAAAAAAAAAAAAAATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(10): Show AAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	156	0.0064	17	c.196 others(38): Show c.1964+47280_1964+47281insAAAAAAAAAAATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(10): Show AAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	156	0.0064	17	c.196 others(38): Show c.1964+47280_1964+47281insAAAAAAAAATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110011012	A A	ATATATAT others(10): Show ATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0164 a0003c0003t0001g0164	1	222	0.0045	17	c.497 others(34): Show c.497-4942_497-4941insTATATATATATATATAT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10			chr9	TogoVar
PALM_chr19_703935_753329	727243	C C	CGACCCTG others(10): Show CGACCCTGACCCCAACCT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03195.hp2 HG02886.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0004	2	404	0.0050	17	c.138 others(32): Show c.138+160_138+161insTGACCCCAACCTGACCC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	749456	G G	GCACCCTG others(10): Show GCACCCTGAGCTTTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp1 others(16): Show HG01243.hp1 HG01884.hp2 HG01891.hp1 HG02109.hp2 HG02257.hp2 HG02559.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02922.hp1 HG02976.hp1 HG03471.hp1 NA19030.hp1 NA19030.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006 a0006c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0008 a0001c0002t0026 a0001c0003t0002 a0001c0003t0006 a0001c0003t0032 a0002c0001t0006 a0002c0001t0008 a0002c0006t0006 a0006c0012t0001	a0001c0002t0001g0149 a0001c0002t0002g0268 a0001c0002t0006g0029 others(16): Show a0001c0002t0001g0149 a0001c0002t0002g0268 a0001c0002t0006g0029 a0001c0002t0008g0371 a0001c0002t0026g0263 a0001c0003t0002g0043 a0001c0003t0006g0034 a0001c0003t0006g0118 a0001c0003t0006g0241 a0001c0003t0006g0346 a0001c0003t0006g0373 a0001c0003t0006g0374 a0001c0003t0006g0376 a0001c0003t0032g0021 a0002c0001t0006g0095 a0002c0001t0008g0058 a0002c0006t0006g0279 a0002c0006t0006g0280 a0006c0012t0001g0364	19	404	0.0470	17	c.26 others(28): Show c.2642_*2643insCACCCTGAGCTTTCACA	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding		1128		chr19	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20300.hp2 HG02886.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0148 a0001c0001t0008g0150 a0001c0001t0008g0148 a0001c0001t0008g0150	2	290	0.0069	17	c.367 others(34): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAA	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(10): Show TAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0284 a0001c0001t0007g0284	1	290	0.0035	17	c.367 others(34): Show c.367+5035_367+5051dupAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS1_chr14_67236435_67341061	67300336	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	290	0.0035	17	c.577 others(34): Show c.577-1042_577-1041insTTTTTTTTTTTTTTTTT	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG02735.hp2 others(3): Show HG00642.hp2 HG01192.hp1 HG02735.hp2 HG02886.hp2 HG03491.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0018 others(1): Show a0001c0002t0004 a0001c0002t0012 a0001c0002t0018 a0001c0002t0080	a0001c0002t0004g0362 a0001c0002t0004g0363 a0001c0002t0012g0290 others(3): Show a0001c0002t0004g0362 a0001c0002t0004g0363 a0001c0002t0012g0290 a0001c0002t0018g0350 a0001c0002t0018g0356 a0001c0002t0080g0361	6	378	0.0159	17	c.118 others(34): Show c.118-3384_118-3368dupTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM16_chr16_4335251_4356321	4344665	A A	AGGGGATT others(10): Show AGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	367	0.0027	17	c.4-1 others(30): Show c.4-1375_4-1374insCCCCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344719	A A	AGGGGATT others(10): Show AGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp1 HG02896.hp2 others(1): Show HG00673.hp1 HG02027.hp1 HG02896.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0003g0246 a0001c0001t0001g0001 a0001c0001t0001g0140 a0001c0001t0003g0246	4	367	0.0109	17	c.4-1 others(30): Show c.4-1429_4-1428insCCCCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM16_chr16_4335251_4356321	4344737	A A	AGGGGATT others(10): Show AGGGGATTGTGTGAGGGG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	367	0.0027	17	c.4-1 others(30): Show c.4-1447_4-1446insCCCCTCACACAATCCCC	PAM16	ENSG00000217930.8	transcript	ENST00000318059.8	protein_coding	1/4			chr16	TogoVar
PAM_chr5_102750305_103034716	102766926	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03516.hp2 HG04199.hp2 others(4): Show HG03471.hp2 HG03516.hp2 HG04199.hp2 NA18995.hp1 NA19005.hp2 NA19056.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0004 a0001c0001t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0103 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0089 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0002t0002g0005 a0001c0002t0004g0044 a0001c0002t0004g0090	7	188	0.0372	17	c.-37 others(38): Show c.-374+11593_-374+11609dupTTTTTTTTTTTTTTTTT	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(10): Show CAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG02074.hp1 others(6): Show HG00642.hp2 HG01123.hp1 HG02074.hp1 HG03486.hp1 NA18747.hp1 NA18950.hp1 NA18951.hp1 NA18981.hp2 NA19005.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0009 a0001c0001 a0001c0002 a0005c0009	a0001c0001t0001 a0001c0002t0002 a0005c0009t0002 a0001c0001t0001 a0001c0002t0002 a0005c0009t0002	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 others(6): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0084 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0019 a0001c0002t0002g0107 a0005c0009t0002g0010	9	188	0.0479	17	c.-37 others(38): Show c.-374+39848_-374+39864dupAAAAAAAAAAAAAAAAA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102836859	C C	CAGAGAGA others(10): Show CAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	188	0.0053	17	c.-37 others(38): Show c.-373-28964_-373-28963insAGAGAGAGAGAGAGAGA	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25			chr5	TogoVar
PAN3_chr13_28133545_28300335	28142511	A A	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0124 a0001c0001t0010g0124	1	252	0.0040	17	c.430 others(34): Show c.430+3427_430+3443dupTTTTTTTTTTTTTTTTT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0058 a0001c0006t0009g0058	1	366	0.0027	17	c.900 others(34): Show c.900-1845_900-1844insATATATATATTTTTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAAAAAAT others(10): Show AAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0278 a0001c0002t0002g0278	1	366	0.0027	17	c.900 others(34): Show c.900-1845_900-1844insATATATATATATTTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAAAATAT others(10): Show AAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02818.hp1 HG02630.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0236 a0001c0001t0001g0092 a0001c0001t0001g0236	2	366	0.0055	17	c.900 others(34): Show c.900-1845_900-1844insATATATATATATATTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar

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