Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PACSIN2_chr22_42864773_43020149	42984309	C C	CTCAATGA others(18): Show CTCAATGAAAAGAAACAACTATATAA	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA20805.hp2 HG01517.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0245 a0001c0001t0002g0246	2	294	0.0068	25	c.-78 others(44): Show c.-78+30687_-78+30711dupTTATATAGTTGTTTCTTTTCATTGA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(18): Show ATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0031 a0001c0002t0003g0031	1	294	0.0034	25	c.-78 others(42): Show c.-78+4622_-78+4623insAAAAATATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PACSIN2_chr22_42864773_43020149	43010398	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0166 a0002c0004t0003g0166	1	294	0.0034	25	c.-78 others(42): Show c.-78+4622_-78+4623insAAAAAAATATATATATATATATATA	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17248636	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	406	0.0025	25	c.43 others(36): Show c.4393_*4394insAAAAAAAAAAAAAAAAAAAAAAAAA	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding		2630		chr1	TogoVar
PAF1_chr19_39380629_39396106	39383115	T T	TCCCTCCT others(18): Show TCCCTCCTCCCAGCCTCCTTCTCTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0000 a0000	a0000c0008 a0000c0008	a0000c0008t0001 a0000c0008t0001	a0000c0008t0001g0027 a0000c0008t0001g0027	1	368	0.0027	25	c.28 others(36): Show c.2875_*2876insGGAGAGAAGGAGGCTGGGAGGAGGG	PAF1	ENSG00000006712.15	transcript	ENST00000221265.8	protein_coding		2513		chr19	TogoVar
PAGR1_chr16_29811152_29827489	29815724	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0023 a0001c0001t0031g0023	1	328	0.0031	25	c.-80 others(34): Show c.-802_-801insAAAAAAAAAAAAAAAAAAAAAAAAA	PAGR1	ENSG00000280789.2	transcript	ENST00000320330.8	protein_coding		427		chr16	TogoVar
PAH_chr12_102831889_102922244	102895869	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0300 a0001c0004t0008g0300	1	312	0.0032	25	c.169 others(40): Show c.169-952_169-951insATATATATATATATATATATATATT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAH_chr12_102831889_102922244	102899858	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18963.hp1 NA21309.hp1 HG04204.hp1 NA18963.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0003t0001g0204 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0003t0001g0204	3	312	0.0096	25	c.169 others(42): Show c.169-4965_169-4941dupTTTTTTTTTTTTTTTTTTTTTTTTT	PAH	ENSG00000171759.10	transcript	ENST00000553106.6	protein_coding	2/12			chr12	TogoVar
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp2 NA18962.hp1 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0269 a0001c0001t0001g0229 a0001c0001t0001g0269	2	350	0.0057	25	c.125 others(44): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19076.hp2 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	302	0.0033	25	c.-21 others(44): Show c.-21-36540_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(18): Show ATATATATATATATATATAAAATTAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	178	0.0056	25	c.-22 others(44): Show c.-22+11538_-22+11539insTATATATATATATATATAAAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(18): Show ATATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0062 a0001c0001t0006g0062	1	178	0.0056	25	c.-22 others(44): Show c.-22+11538_-22+11539insTATATATATATATATATATAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196833468	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0114 a0001c0001t0002g0114	1	178	0.0056	25	c.50 others(36): Show c.5063_*5064insTATATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		822		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	178	0.0056	25	c.58 others(36): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0298 a0003c0004t0006g0298	1	426	0.0024	25	c.187 others(42): Show c.1879-625_1879-624insTTTTTTTTTTTTTTTTTTTTTTTTT	PAK6	ENSG00000137843.12	transcript	ENST00000560346.6	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
PALLD_chr4_168492052_168933441	168557032	T T	TTTTTGTT others(18): Show TTTTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0001 a0002c0012t0001	a0002c0012t0001g0085 a0002c0012t0001g0085	1	156	0.0064	25	c.908 others(44): Show c.908+44626_908+44650dupTTTTGTTTTGTTTTGTTTTGTTTTG	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110011014	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0187 a0001c0006t0007g0187	1	222	0.0045	25	c.497 others(42): Show c.497-4939_497-4938insAAAAAAAAAAATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110135164	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG06807.hp2 HG01261.hp2 HG06807.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0014 a0006c0009t0014	a0006c0009t0014g0151 a0006c0009t0014g0217 a0006c0009t0014g0151 a0006c0009t0014g0217	2	222	0.0090	25	c.583 others(40): Show c.583-962_583-961insAAAAAAAAAAATATATATATATATA	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(18): Show AAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	222	0.0045	25	c.583 others(40): Show c.583-962_583-961insAAAAAAAAATATATATATATATATA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALMD_chr1_99641113_99699535	99652689	G G	GGAAAAGA others(18): Show GGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	380	0.0026	25	c.45+ others(40): Show c.45+6331_45+6332insAGAAAAGAAAAGAAAAGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAAGA others(18): Show GGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01975.hp2 NA18954.hp1 others(1): Show HG01934.hp2 HG01975.hp2 NA18954.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 others(1): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0150	4	380	0.0105	25	c.45+ others(40): Show c.45+6357_45+6381dupAGAAAAGAAAAGAAAAGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAGGA others(18): Show GGAAAGGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA19087.hp2 HG01978.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0249 a0001c0001t0001g0086 a0001c0001t0001g0249	2	380	0.0053	25	c.45+ others(40): Show c.45+6336_45+6337insGGAAAAGAAAAGAAAAGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALMD_chr1_99641113_99699535	99652694	G G	GGAAAGGA others(18): Show GGAAAGGAAAGGAAAGGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	380	0.0026	25	c.45+ others(40): Show c.45+6336_45+6337insGGAAAGGAAAGGAAAAGAAAAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01515.hp1 HG02273.hp2 others(3): Show HG00280.hp1 HG01515.hp1 HG02273.hp2 HG02615.hp2 HG03209.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0019 others(3): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0019 a0001c0002t0063 a0001c0002t0067 a0001c0002t0074	a0001c0002t0004g0364 a0001c0002t0005g0328 a0001c0002t0019g0299 others(3): Show a0001c0002t0004g0364 a0001c0002t0005g0328 a0001c0002t0019g0299 a0001c0002t0063g0329 a0001c0002t0067g0371 a0001c0002t0074g0298	6	378	0.0159	25	c.118 others(42): Show c.118-3392_118-3368dupTTTTTTTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAM_chr5_102750305_103034716	102766926	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	188	0.0053	25	c.-37 others(46): Show c.-374+11585_-374+11609dupTTTTTTTTTTTTTTTTTTTTTTTT T	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PAM_chr5_102750305_103034716	102945384	G G	GCAATATT others(18): Show GCAATATTTATATTGAAATATAAATT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02738.hp1 NA20905.hp2 HG01934.hp2 HG02738.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0167 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0167	3	188	0.0160	25	c.527 others(42): Show c.527-1434_527-1410dupATAAATTCAATATTTATATTGAAAT	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK1_chr10_89577988_89650242	89595833	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0267 a0001c0002t0002g0267	1	366	0.0027	25	c.900 others(42): Show c.900-1845_900-1844insATATATATATATATTTTTTTTTTTT	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding	3/6			chr10	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAT others(18): Show AAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19072.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	416	0.0024	25	c.635 others(40): Show c.635+144_635+145insATATATATATATATATATATTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168569030	A A	AAAAATAT others(18): Show AAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	416	0.0024	25	c.29- others(36): Show c.29-33_29-32insATATATATATATATATATATATTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA19056.hp1 NA18960.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0062 a0001c0001t0012g0063 a0001c0001t0012g0062 a0001c0001t0012g0063	2	416	0.0048	25	c.29- others(40): Show c.29-4443_29-4419dupTTTTTTTTTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PANK4_chr1_2503537_2531596	2526362	G G	GCGCCCCC others(18): Show GCGCCCCCGCCCTTCGTCCTTCCCGC	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0179 a0001c0001t0002g0179	1	399	0.0025	25	c.124 others(39): Show c.124+77_124+101dupGCGGGAAGGACGAAGGGCGGGGGCG	PANK4	ENSG00000157881.16	transcript	ENST00000378466.9	protein_coding	1/18			chr1	TogoVar
PAPPA_chr9_116148791_116407321	116261887	G G	GTGTTTTG others(18): Show GTGTTTTGTTTTGTTTTGTTTTGTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02615.hp1 NA18522.hp1 HG01243.hp1 HG02615.hp1 NA18522.hp1	a0005 a0006 a0005 a0006	a0005c0014 a0005c0015 a0006c0033 a0005c0014 a0005c0015 a0006c0033	a0005c0014t0012 a0005c0015t0024 a0006c0033t0003 a0005c0014t0012 a0005c0015t0024 a0006c0033t0003	a0005c0014t0012g0018 a0005c0015t0024g0147 a0006c0033t0003g0203 a0005c0014t0012g0018 a0005c0015t0024g0147 a0006c0033t0003g0203	3	234	0.0128	25	c.273 others(44): Show c.2733-3969_2733-3945dupTGTTTTGTTTTGTTTTGTTTTGTTT	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPPA_chr9_116148791_116407321	116289135	T T	TATATATA others(18): Show TATATATATATATATATATATATAGC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0013	a0002c0004t0013g0004 a0002c0004t0013g0004	1	234	0.0043	25	c.295 others(46): Show c.2954-13599_2954-13598insGCATATATATATATATATATATAT A	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS2_chr10_87654878_87752705	87713312	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02145.hp1 HG02647.hp2 HG01433.hp1 HG02145.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0057 a0001c0001t0012 a0001c0001t0057	a0001c0001t0012g0302 a0001c0001t0012g0309 a0001c0001t0057g0154 a0001c0001t0012g0302 a0001c0001t0012g0309 a0001c0001t0057g0154	3	372	0.0081	25	c.381 others(38): Show c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAA	PAPSS2	ENSG00000198682.13	transcript	ENST00000456849.2	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3B_chr2_204540475_205625162	204998460	T T	TATATATG others(18): Show TATATATGTATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG02055.hp2 others(18): Show HG00609.hp1 HG00609.hp2 HG02055.hp2 HG02145.hp1 HG02622.hp1 HG02723.hp1 HG02886.hp2 HG02965.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 NA18522.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp1 NA20300.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0007 a0008	a0001c0002 a0001c0004 a0001c0006 others(11): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0016 a0001c0021 a0001c0022 a0002c0001 a0004c0011 a0004c0012 a0004c0019 a0004c0020 a0007c0017 a0008c0007	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(15): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0004t0002 a0001c0006t0007 a0001c0008t0001 a0001c0008t0004 a0001c0016t0002 a0001c0021t0001 a0001c0022t0018 a0002c0001t0002 a0004c0011t0005 a0004c0012t0003 a0004c0019t0002 a0004c0020t0020 a0007c0017t0012 a0008c0007t0001 a0008c0007t0005	a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 others(18): Show a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0013g0022 a0001c0004t0002g0035 a0001c0006t0007g0013 a0001c0006t0007g0018 a0001c0008t0001g0054 a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0021t0001g0012 a0001c0022t0018g0020 a0002c0001t0002g0005 a0002c0001t0002g0033 a0004c0011t0005g0044 a0004c0012t0003g0048 a0004c0019t0002g0036 a0004c0020t0020g0032 a0007c0017t0012g0006 a0008c0007t0001g0026 a0008c0007t0005g0040	21	54	0.3889	25	c.394 others(44): Show c.394+33163_394+33187dupATATATGTATATATATGTGTATATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205103312	A A	ATATTTAT others(18): Show ATATTTATGTAAAATAAACATATTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0019 a0004c0019	a0004c0019t0002 a0004c0019t0002	a0004c0019t0002g0036 a0004c0019t0002g0036	1	54	0.0185	25	c.505 others(42): Show c.505-1096_505-1072dupCATATTTTTATTTATGTAAAATAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205103330	C C	CATATTTT others(18): Show CATATTTTTATTTATGTAAAATAAAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp1 HG01884.hp1 others(29): Show HG00609.hp2 HG01109.hp1 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp1 NA19030.hp1 NA19030.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0012	a0001c0002 a0001c0004 a0001c0008 others(15): Show a0001c0002 a0001c0004 a0001c0008 a0001c0016 a0001c0022 a0002c0001 a0002c0003 a0002c0015 a0003c0005 a0003c0009 a0003c0010 a0003c0018 a0004c0011 a0006c0014 a0008c0007 a0009c0025 a0011c0024 a0012c0023	a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 others(25): Show a0001c0002t0001 a0001c0002t0004 a0001c0002t0013 a0001c0004t0021 a0001c0008t0001 a0001c0008t0004 a0001c0016t0002 a0001c0022t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0010 a0002c0003t0003 a0002c0003t0008 a0002c0003t0016 a0002c0015t0017 a0003c0005t0001 a0003c0009t0002 a0003c0010t0006 a0003c0010t0019 a0003c0018t0002 a0004c0011t0003 a0006c0014t0001 a0006c0014t0011 a0008c0007t0001 a0008c0007t0005 a0009c0025t0022 a0011c0024t0003 a0012c0023t0001	a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 others(29): Show a0001c0002t0001g0008 a0001c0002t0001g0027 a0001c0002t0004g0029 a0001c0002t0013g0022 a0001c0004t0021g0051 a0001c0008t0001g0054 a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0022t0018g0020 a0002c0001t0001g0042 a0002c0001t0001g0053 a0002c0001t0002g0005 a0002c0001t0002g0019 a0002c0001t0010g0050 a0002c0003t0003g0047 a0002c0003t0008g0049 a0002c0003t0016g0046 a0002c0015t0017g0015 a0003c0005t0001g0010 a0003c0005t0001g0025 a0003c0009t0002g0034 a0003c0010t0006g0021 a0003c0010t0019g0030 a0003c0018t0002g0038 a0004c0011t0003g0043 a0006c0014t0001g0011 a0006c0014t0011g0023 a0008c0007t0001g0026 a0008c0007t0005g0040 a0009c0025t0022g0009 a0011c0024t0003g0014 a0012c0023t0001g0052	32	54	0.5926	25	c.505 others(42): Show c.505-1087_505-1063dupATTTATGTAAAATAAATATATTTTT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	4/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205331782	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0028 a0007c0028	a0007c0028t0003 a0007c0028t0003	a0007c0028t0003g0007 a0007c0028t0003g0007	1	54	0.0185	25	c.263 others(46): Show c.2630+30104_2630+30105insAAAAAAAAAAAAAAAAAAAAAAAA A	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380896	A A	ATATATAT others(18): Show ATATATATAATATATAAAGAATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01109.hp1 HG01109.hp2 others(25): Show HG00609.hp1 HG01109.hp1 HG01109.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010	a0001c0002 a0001c0004 a0001c0006 others(15): Show a0001c0002 a0001c0004 a0001c0006 a0001c0008 a0001c0016 a0001c0021 a0001c0022 a0002c0001 a0002c0015 a0003c0005 a0003c0009 a0003c0018 a0004c0012 a0005c0013 a0006c0014 a0007c0028 a0008c0007 a0010c0027	a0001c0002t0001 a0001c0002t0013 a0001c0004t0014 others(22): Show a0001c0002t0001 a0001c0002t0013 a0001c0004t0014 a0001c0006t0007 a0001c0008t0004 a0001c0016t0002 a0001c0021t0001 a0001c0022t0018 a0002c0001t0001 a0002c0001t0002 a0002c0001t0004 a0002c0001t0010 a0002c0015t0017 a0003c0005t0001 a0003c0009t0002 a0003c0009t0009 a0003c0018t0002 a0004c0012t0003 a0005c0013t0001 a0005c0013t0003 a0006c0014t0001 a0007c0028t0003 a0008c0007t0001 a0008c0007t0005 a0010c0027t0015	a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0004t0014g0016 others(25): Show a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0004t0014g0016 a0001c0006t0007g0013 a0001c0006t0007g0018 a0001c0008t0004g0028 a0001c0016t0002g0037 a0001c0021t0001g0012 a0001c0022t0018g0020 a0002c0001t0001g0042 a0002c0001t0002g0019 a0002c0001t0002g0033 a0002c0001t0004g0017 a0002c0001t0010g0050 a0002c0015t0017g0015 a0003c0005t0001g0025 a0003c0009t0002g0034 a0003c0009t0009g0039 a0003c0018t0002g0038 a0004c0012t0003g0004 a0004c0012t0003g0048 a0005c0013t0001g0001 a0005c0013t0003g0002 a0006c0014t0001g0011 a0007c0028t0003g0007 a0008c0007t0001g0026 a0008c0007t0005g0040 a0010c0027t0015g0003	28	54	0.5185	25	c.263 others(46): Show c.2631-20116_2631-20092dupTATATATAATATATAAAGAATATA T	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34129700	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0050 a0003c0008t0003g0050	1	100	0.0100	25	c.354 others(44): Show c.3540+1762_3540+1763insAAAAAAAAAAAAAAAAAAAAAAAAA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	23/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34145221	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0090 a0001c0001t0005g0090	1	100	0.0100	25	c.342 others(46): Show c.3420-13639_3420-13638insAAAAAAAAAAATATATATATATAT A	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34261781	A A	AAAAGAAA others(18): Show AAAAGAAAGGAAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0078 a0001c0001t0003g0078	1	100	0.0100	25	c.341 others(44): Show c.3419+7875_3419+7876insCTTTTCTTTCTTTCTTCCTTTCTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	22/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34432041	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	100	0.0100	25	c.714 others(44): Show c.714+18251_714+18275dupTTTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	5/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605524	C C	CTATATAT others(18): Show CTATATATATCTCATATATATATATA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01243.hp1 HG03139.hp2 others(2): Show HG01167.hp2 HG01243.hp1 HG03139.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0002t0004 a0001c0001t0001 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0058 a0001c0002t0003g0071 a0001c0002t0004g0029 others(2): Show a0001c0001t0001g0058 a0001c0002t0003g0071 a0001c0002t0004g0029 a0001c0002t0004g0032 a0001c0002t0004g0033	5	100	0.0500	25	c.223 others(44): Show c.223-88366_223-88365insTATATATATATATGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(18): Show ATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03471.hp2 HG01123.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0009 a0001c0001t0003g0021	2	292	0.0069	25	c.173 others(44): Show c.1738-6329_1738-6328insAAAAAAATATATATATATATATATA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARG_chr10_49813279_49947027	49891623	A A	ATATATAT others(18): Show ATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	292	0.0034	25	c.173 others(44): Show c.1738-6329_1738-6328insAAAAAAAAAAATATATATATATATA	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	7/17			chr10	TogoVar
PARL_chr3_183824271_183889880	183882221	A A	ATATATAT others(18): Show ATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	358	0.0028	25	c.125 others(42): Show c.125+2500_125+2501insATATATATATATATATATATATATA	PARL	ENSG00000175193.14	transcript	ENST00000317096.9	protein_coding	1/9			chr3	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01192.hp1 HG02165.hp1 others(2): Show HG00099.hp2 HG01192.hp1 HG02165.hp1 HG03834.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0022	a0001c0001t0001g0015 a0001c0001t0002g0043 a0001c0001t0004g0027 others(2): Show a0001c0001t0001g0015 a0001c0001t0002g0043 a0001c0001t0004g0027 a0001c0001t0006g0138 a0001c0001t0022g0162	5	169	0.0296	25	c.148 others(46): Show c.1481-18633_1481-18609dupTTTTTTTTTTTTTTTTTTTTTTTT T	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP14_chr3_122675839_122735840	122677565	A A	AAAAAAAA others(18): Show AAAAAAAAATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG02630.hp2 HG00642.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0278 a0001c0003t0007g0324 a0001c0001t0001g0278 a0001c0003t0007g0324	2	366	0.0055	25	c.-33 others(36): Show c.-3319_-3318insAAAAAAAATATATATATATATATAT	PARP14	ENSG00000173193.15	transcript	ENST00000474629.7	protein_coding		3273		chr3	TogoVar
PARP15_chr3_122572650_122644047	122601036	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02896.hp2 NA18982.hp2 others(5): Show HG00673.hp1 HG02896.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18992.hp1 NA19002.hp2 NA19063.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0017 a0004c0004 others(1): Show a0001c0001 a0001c0017 a0004c0004 a0010c0013	a0001c0001t0001 a0001c0001t0007 a0001c0017t0004 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0017t0004 a0004c0004t0002 a0004c0004t0003 a0010c0013t0006	a0001c0001t0001g0121 a0001c0001t0007g0112 a0001c0017t0004g0095 others(5): Show a0001c0001t0001g0121 a0001c0001t0007g0112 a0001c0017t0004g0095 a0004c0004t0002g0038 a0004c0004t0003g0020 a0004c0004t0003g0090 a0004c0004t0003g0111 a0010c0013t0006g0277	8	356	0.0225	25	c.187 others(42): Show c.187-4877_187-4876insTTTTTTTTTTTTTTTTTTTTTTTTT	PARP15	ENSG00000173200.13	transcript	ENST00000464300.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr3	TogoVar

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