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
PAIP1_chr5_43521267_43562077	43531656	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01978.hp1 HG02074.hp1 others(7): Show HG00735.hp1 HG01978.hp1 HG02074.hp1 HG02129.hp1 HG03491.hp1 HG04199.hp2 NA18968.hp1 NA19000.hp1 NA19058.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0230 others(7): Show a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0242 a0001c0001t0001g0247 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0011g0234	10	350	0.0286	23	c.125 others(42): Show c.1253-1778_1253-1777insTTTTTTTTTTTTTTTTTTTTTTT	PAIP1	ENSG00000172239.14	transcript	ENST00000306846.8	protein_coding	9/10			chr5	TogoVar
PAK1_chr11_77317017_77479094	77429056	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	302	0.0033	23	c.-21 others(42): Show c.-21-36538_-21-36516dupTTTTTTTTTTTTTTTTTTTTTTT	PAK1	ENSG00000149269.10	transcript	ENST00000356341.8	protein_coding	1/14			chr11	TogoVar
PAK2_chr3_196734857_196837647	196751695	A A	ATATATAT others(16): Show ATATATATATATATATATAATTAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 NA18906.hp2 HG01255.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0004t0019 a0001c0001t0005 a0001c0004t0019	a0001c0001t0005g0059 a0001c0004t0019g0061 a0001c0001t0005g0059 a0001c0004t0019g0061	2	178	0.0112	23	c.-22 others(42): Show c.-22+11538_-22+11539insTATATATATATATATATAATTAC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	1/14			chr3	TogoVar
PAK2_chr3_196734857_196837647	196808557	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0148 a0001c0001t0020g0148	1	178	0.0056	23	c.709 others(38): Show c.709+661_709+662insAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PAK2_chr3_196734857_196837647	196833462	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0161 a0001c0001t0054g0161	1	178	0.0056	23	c.50 others(34): Show c.5057_*5058insTATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		816		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833470	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0023 a0001c0001t0009g0023	1	178	0.0056	23	c.50 others(34): Show c.5065_*5066insTATATATATATATATATATATAT	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		824		chr3	TogoVar
PAK2_chr3_196734857_196837647	196833494	T T	TATATATA others(16): Show TATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	178	0.0056	23	c.50 others(34): Show c.5089_*5090insATATATATATATATATATATATA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		848		chr3	TogoVar
PAK2_chr3_196734857_196837647	196834252	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02165.hp1 HG02622.hp1 others(2): Show HG02027.hp1 HG02165.hp1 HG02622.hp1 NA18953.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0049 a0001c0001t0007 a0001c0001t0017 a0001c0001t0049	a0001c0001t0007g0132 a0001c0001t0007g0163 a0001c0001t0007g0165 others(2): Show a0001c0001t0007g0132 a0001c0001t0007g0163 a0001c0001t0007g0165 a0001c0001t0017g0103 a0001c0001t0049g0027	5	178	0.0281	23	c.58 others(34): Show c.5847_*5848insAAAAAAAAAAAAAAAAAAAAAAA	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding		1606		chr3	TogoVar
PAK5_chr20_9532370_9844076	9771582	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0010 a0007c0012t0010	a0007c0012t0010g0151 a0007c0012t0010g0151	1	208	0.0048	23	c.-16 others(44): Show c.-161-60148_-161-60147insAAAAAAAAAAAAAAAAAAAAAAA	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	1/9			chr20	TogoVar
PAK6_chr15_40234063_40282487	40275280	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0045 a0003c0004t0045	a0003c0004t0045g0068 a0003c0004t0045g0068	1	426	0.0024	23	c.187 others(40): Show c.1879-625_1879-624insTTTTTTTTTTTTTTTTTTTTTTT	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(16): Show ATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	326	0.0031	23	c.-39 others(34): Show c.-3981_-3980insAAAAAAAAAAATATATATATATA	PALB2	ENSG00000083093.11	transcript	ENST00000261584.9	protein_coding		3828		chr16	TogoVar
PALD1_chr10_70473767_70573450	70502096	C C	CGAGACCA others(16): Show CGAGACCAACCTGGGCAACATAGT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0305 a0001c0001t0038g0305	1	308	0.0033	23	c.-30 others(42): Show c.-30+23044_-30+23066dupAACCTGGGCAACATAGTGAGACC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PALLD_chr4_168492052_168933441	168759202	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0144 a0001c0002t0010g0144	1	156	0.0064	23	c.196 others(44): Show c.1964+47280_1964+47281insAAAAAAAAAAAAAAATATATATA	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110006320	C C	CTATCTTT others(16): Show CTATCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03486.hp1 HG03471.hp1 HG03486.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0008 a0008c0010t0012 a0001c0001t0008 a0008c0010t0012	a0001c0001t0008g0049 a0008c0010t0012g0043 a0001c0001t0008g0049 a0008c0010t0012g0043	2	222	0.0090	23	c.497 others(40): Show c.497-9634_497-9633insTATCTTTCTTTCTTTCTTTCTTT	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	6/10			chr9	TogoVar
PALM2AKAP2_chr9_109775198_110177512	110035372	A A	ATATATTA others(16): Show ATATATTATATGTATAATACATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18906.hp2 HG02145.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0191 a0001c0001t0001g0075 a0001c0001t0001g0191	2	222	0.0090	23	c.582 others(42): Show c.582+19335_582+19336insTATTATATGTATAATACATATTA	PALM2AKAP2	ENSG00000157654.19	transcript	ENST00000374530.8	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
PALM_chr19_703935_753329	741392	A A	AGTGAGGG others(16): Show AGTGAGGGGAGACGGGCTGCAGGG	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02647.hp1 HG02818.hp2 others(9): Show HG02004.hp1 HG02647.hp1 HG02818.hp2 HG02886.hp2 HG02970.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp2 HG03540.hp1 HG03540.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0007 a0002c0001t0002 others(1): Show a0001c0002t0002 a0001c0002t0007 a0002c0001t0002 a0002c0001t0007	a0001c0002t0002g0004 a0001c0002t0002g0262 a0001c0002t0002g0264 others(8): Show a0001c0002t0002g0004 a0001c0002t0002g0262 a0001c0002t0002g0264 a0001c0002t0002g0361 a0001c0002t0002g0365 a0001c0002t0007g0020 a0001c0002t0007g0274 a0002c0001t0002g0036 a0002c0001t0002g0240 a0002c0001t0007g0273 a0002c0001t0007g0276	12	404	0.0297	23	c.634 others(39): Show c.634+989_634+1011dupACGGGCTGCAGGGGTGAGGGGAG	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	741404	C C	CGGGCTGC others(16): Show CGGGCTGCAGGGGTGAGGGGAGAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG01978.hp1 others(6): Show HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp2 HG02258.hp1 HG02280.hp2 HG02486.hp1 HG03471.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0006	a0001c0002t0001 a0001c0002t0008 a0001c0003t0014 others(6): Show a0001c0002t0001 a0001c0002t0008 a0001c0003t0014 a0002c0001t0002 a0002c0001t0006 a0002c0001t0007 a0002c0001t0008 a0002c0001t0030 a0002c0006t0008	a0001c0002t0001g0028 a0001c0002t0008g0371 a0001c0003t0014g0278 others(6): Show a0001c0002t0001g0028 a0001c0002t0008g0371 a0001c0003t0014g0278 a0002c0001t0002g0117 a0002c0001t0006g0095 a0002c0001t0007g0277 a0002c0001t0008g0058 a0002c0001t0030g0096 a0002c0006t0008g0024	9	404	0.0223	23	c.634 others(38): Show c.634+943_634+944insTGGGCTGCAGGGGTGAGGGGAGA	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALM_chr19_703935_753329	741451	G G	GGGCTGCA others(16): Show GGGCTGCAGGGGTGAGGGGAGACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0268 a0001c0002t0002g0268	1	404	0.0025	23	c.634 others(38): Show c.634+990_634+991insAGGCTGCAGGGGTGAGGGGAGAC	PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
PALS1_chr14_67236435_67341061	67284429	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03453.hp1 HG03516.hp2 others(1): Show HG01175.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0003 a0001c0001t0007 a0007c0009t0003 a0001c0001t0003 a0001c0001t0007 a0007c0009t0003	a0001c0001t0003g0116 a0001c0001t0003g0238 a0001c0001t0007g0287 others(1): Show a0001c0001t0003g0116 a0001c0001t0003g0238 a0001c0001t0007g0287 a0007c0009t0003g0115	4	290	0.0138	23	c.367 others(40): Show c.367+4907_367+4908insAAAAAAAAAAAAAAAAAAAAAAA	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(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0158 a0001c0001t0004g0158	1	290	0.0035	23	c.367 others(40): Show c.367+5029_367+5051dupAAAAAAAAAAAAAAAAAAAAAAA	PALS1	ENSG00000072415.10	transcript	ENST00000261681.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALS2_chr7_24568452_24699193	24638322	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG01109.hp1 others(4): Show HG00323.hp1 HG00733.hp1 HG01109.hp1 HG01168.hp1 HG01515.hp2 NA18975.hp2 NA19055.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 others(3): Show a0001c0002t0004 a0001c0002t0005 a0001c0002t0007 a0001c0002t0008 a0001c0002t0042 a0001c0002t0072	a0001c0002t0004g0343 a0001c0002t0004g0344 a0001c0002t0005g0306 others(4): Show a0001c0002t0004g0343 a0001c0002t0004g0344 a0001c0002t0005g0306 a0001c0002t0007g0284 a0001c0002t0008g0348 a0001c0002t0042g0335 a0001c0002t0072g0283	7	378	0.0185	23	c.118 others(40): Show c.118-3390_118-3368dupTTTTTTTTTTTTTTTTTTTTTTT	PALS2	ENSG00000105926.16	transcript	ENST00000222644.10	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
PAMR1_chr11_35426827_35530616	35525919	A A	AGGAGGGG others(16): Show AGGAGGGGCCATAGGACCCTGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp2 HG01975.hp1 HG01981.hp2 others(1): Show HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0204 a0001c0001t0002g0201 a0001c0001t0002g0202 others(1): Show a0001c0001t0001g0204 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203	4	378	0.0106	23	c.-35 others(32): Show c.-357_-335dupGCCCAGGGTCCTATGGCCCCTCC	PAMR1	ENSG00000149090.13	transcript	ENST00000619888.5	protein_coding		304		chr11	TogoVar
PAM_chr5_102750305_103034716	102950416	G G	GGGTATGT others(16): Show GGGTATGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	188	0.0053	23	c.802 others(38): Show c.802-300_802-299insGTATGTGTGTGTGTGTGTGTGTG	PAM	ENSG00000145730.21	transcript	ENST00000438793.8	protein_coding	11/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PANK3_chr5_168543495_168584368	168565864	A A	AATATATA others(16): Show AATATATATATATATAATATATAT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	416	0.0024	23	c.635 others(38): Show c.635+148_635+149insATATATATTATATATATATATAT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	416	0.0024	23	c.635 others(38): Show c.635+144_635+145insATATATTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168565868	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0104 a0001c0001t0007g0104	1	416	0.0024	23	c.635 others(38): Show c.635+144_635+145insATATATATTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	3/6			chr5	TogoVar
PANK3_chr5_168543495_168584368	168573416	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0061 a0001c0001t0005g0061	1	416	0.0024	23	c.29- others(38): Show c.29-4441_29-4419dupTTTTTTTTTTTTTTTTTTTTTTT	PANK3	ENSG00000120137.7	transcript	ENST00000239231.7	protein_coding	1/6			chr5	TogoVar
PAPSS1_chr4_107608666_107725234	107621608	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0024 a0001c0006t0002g0024	1	276	0.0036	23	c.173 others(42): Show c.1737-7244_1737-7222dupAAAAAAAAAAAAAAAAAAAAAAA	PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding	11/11			chr4	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0056 a0001c0001t0005g0056	1	362	0.0028	23	c.-30 others(34): Show c.-3007_-3006insATATATATTTTTTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0055 a0001c0001t0005g0055	1	362	0.0028	23	c.-30 others(34): Show c.-3007_-3006insATATATATATATTTTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PAQR7_chr1_25856484_25880708	25878385	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0038 a0001c0001t0011g0038	1	362	0.0028	23	c.-30 others(34): Show c.-3007_-3006insATATATATATATATTTTTTTTTT	PAQR7	ENSG00000182749.6	transcript	ENST00000675840.1	protein_coding		2678		chr1	TogoVar
PARD3B_chr2_204540475_205625162	205331782	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02622.hp1 HG03130.hp2 others(1): Show HG02145.hp1 HG02622.hp1 HG03130.hp2 HG03139.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0002c0003 a0008c0007 a0001c0002 a0002c0003 a0008c0007	a0001c0002t0004 a0002c0003t0008 a0002c0003t0016 others(1): Show a0001c0002t0004 a0002c0003t0008 a0002c0003t0016 a0008c0007t0005	a0001c0002t0004g0029 a0002c0003t0008g0049 a0002c0003t0016g0046 others(1): Show a0001c0002t0004g0029 a0002c0003t0008g0049 a0002c0003t0016g0046 a0008c0007t0005g0040	4	54	0.0741	23	c.263 others(44): Show c.2630+30082_2630+30104dupAAAAAAAAAAAAAAAAAAAAAAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380575	G G	GTATATAT others(16): Show GTATATATTATATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp2 HG02647.hp1 others(7): Show HG02055.hp1 HG02145.hp2 HG02647.hp1 HG02647.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0008	a0001c0002 a0001c0006 a0002c0001 others(4): Show a0001c0002 a0001c0006 a0002c0001 a0002c0015 a0003c0005 a0007c0028 a0008c0007	a0001c0002t0001 a0001c0002t0013 a0001c0006t0007 others(7): Show a0001c0002t0001 a0001c0002t0013 a0001c0006t0007 a0002c0001t0001 a0002c0001t0002 a0002c0001t0010 a0002c0015t0017 a0003c0005t0001 a0007c0028t0003 a0008c0007t0001	a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0006t0007g0018 others(7): Show a0001c0002t0001g0027 a0001c0002t0013g0022 a0001c0006t0007g0018 a0002c0001t0001g0042 a0002c0001t0002g0019 a0002c0001t0010g0050 a0002c0015t0017g0015 a0003c0005t0001g0025 a0007c0028t0003g0007 a0008c0007t0001g0026	10	54	0.1852	23	c.263 others(44): Show c.2631-20438_2631-20437insTATATATTATATATAATATATAA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22			chr2	TogoVar
PARD3B_chr2_204540475_205625162	205380937	T T	TATATTAT others(16): Show TATATTATATATAATATATAAAGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0044 a0004c0011t0005g0044	1	54	0.0185	23	c.263 others(44): Show c.2631-20072_2631-20071insTATATATAATATATAAAGAATAT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	18/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34565260	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	100	0.0100	23	c.223 others(42): Show c.223-48124_223-48102dupAAAAAAAAAAAAAAAAAAAAAAA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34640708	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 homoSapiens_chm13v2.hp1 HG00735.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0018 a0001c0001t0001 a0001c0003t0018	a0001c0001t0001g0084 a0001c0003t0018g0044 a0001c0001t0001g0084 a0001c0003t0018g0044	2	100	0.0200	23	c.222 others(42): Show c.222+55587_222+55609dupTTTTTTTTTTTTTTTTTTTTTTT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARG_chr10_49813279_49947027	49927419	A A	AAAGAAAG others(16): Show AAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	292	0.0034	23	c.145 others(42): Show c.1455+4680_1455+4681insCTTTCTTTCTTTCTTTCTTTCTT	PARG	ENSG00000227345.9	transcript	ENST00000616448.2	protein_coding	4/17			chr10	TogoVar
PARN_chr16_14430701_14635260	14501435	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA18957.hp1 NA18957.hp2 others(1): Show HG01978.hp2 NA18957.hp1 NA18957.hp2 NA18979.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0004c0004t0002	a0001c0001t0001g0047 a0001c0001t0006g0075 a0001c0001t0007g0142 others(1): Show a0001c0001t0001g0047 a0001c0001t0006g0075 a0001c0001t0007g0142 a0004c0004t0002g0130	4	169	0.0237	23	c.148 others(44): Show c.1481-18631_1481-18609dupTTTTTTTTTTTTTTTTTTTTTTT	PARN	ENSG00000140694.18	transcript	ENST00000437198.7	protein_coding	21/23			chr16	TogoVar
PARP16_chr15_65253099_65291883	65269181	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0186 a0001c0001t0002g0186	1	316	0.0032	23	c.312 others(40): Show c.312+1731_312+1753dupGAAAGAAAGAAAGAAAGAAAGAA	PARP16	ENSG00000138617.16	transcript	ENST00000649807.2	protein_coding	2/5			chr15	TogoVar
PARP8_chr5_50661637_50851519	50754118	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	328	0.0031	23	c.184 others(40): Show c.184+3931_184+3953dupATATATATATATATATATATATA	PARP8	ENSG00000151883.20	transcript	ENST00000281631.10	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
PARVA_chr11_12372571_12540356	12443587	G G	GTTAAGTA others(16): Show GTTAAGTATATTCATTCATGCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp1 NA18993.hp1 NA18998.hp2 others(5): Show HG01952.hp1 NA18993.hp1 NA18998.hp2 NA19000.hp1 NA19056.hp1 NA19068.hp2 NA19070.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0026 a0001c0001t0066 a0001c0001t0081 a0001c0002t0002	a0001c0001t0001g0044 a0001c0001t0001g0118 a0001c0001t0002g0029 others(5): Show a0001c0001t0001g0044 a0001c0001t0001g0118 a0001c0001t0002g0029 a0001c0001t0005g0028 a0001c0001t0026g0142 a0001c0001t0066g0160 a0001c0001t0081g0195 a0001c0002t0002g0114	8	286	0.0280	23	c.137 others(42): Show c.137-30133_137-30111dupTAAGTATATTCATTCATGCTTTT	PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVB_chr22_44019302_44177939	44151029	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0085 a0001c0002t0085	a0001c0002t0085g0135 a0001c0002t0085g0135	1	332	0.0030	23	c.775 others(38): Show c.775-448_775-426dupAAAAAAAAAAAAAAAAAAAAAAA	PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
PASD1_chrX_151558675_151681739	151645904	T T	TTTGTTTT others(16): Show TTTGTTTTGTTTTGTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01884.hp1 others(17): Show HG00140.hp1 HG00741.hp1 HG01884.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02486.hp1 HG02698.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp1 HG03654.hp1 HG06807.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0009 others(1): Show a0001c0001 a0001c0002 a0002c0009 a0004c0013	a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 others(5): Show a0001c0001t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0002c0009t0003 a0004c0013t0010	a0001c0001t0001g0088 a0001c0001t0001g0171 a0001c0001t0001g0191 others(17): Show a0001c0001t0001g0088 a0001c0001t0001g0171 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0002t0002g0004 a0001c0002t0002g0015 a0001c0002t0002g0018 a0001c0002t0002g0164 a0001c0002t0002g0176 a0001c0002t0002g0180 a0001c0002t0002g0216 a0001c0002t0003g0182 a0001c0002t0003g0203 a0001c0002t0004g0181 a0001c0002t0004g0184 a0001c0002t0004g0186 a0001c0002t0007g0217 a0001c0002t0008g0207 a0002c0009t0003g0006 a0004c0013t0010g0132	20	221	0.0905	23	c.630 others(40): Show c.630-2709_630-2708insGTTTTGTTTTGTTTTGTTTTGTT	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding	8/15		INFO_REALIGN_3_PRIME	chrX	TogoVar
PATJ_chr1_61737480_62168915	61861284	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0006 a0006	a0006c0070 a0006c0070	a0006c0070t0019 a0006c0070t0019	a0006c0070t0019g0025 a0006c0070t0019g0025	1	158	0.0063	23	c.232 others(40): Show c.2323-266_2323-244dupTTTTTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	18/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62036871	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0029 a0001c0022t0029	a0001c0022t0029g0111 a0001c0022t0029g0111	1	158	0.0063	23	c.396 others(42): Show c.3960-1096_3960-1095insAAAAAAAAAAAAAAAAAAAAAAA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	29/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62099347	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0009 a0009	a0009c0097 a0009c0097	a0009c0097t0034 a0009c0097t0034	a0009c0097t0034g0052 a0009c0097t0034g0052	1	158	0.0063	23	c.437 others(42): Show c.4378-9082_4378-9060dupTTTTTTTTTTTTTTTTTTTTTTT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	33/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PATJ_chr1_61737480_62168915	62144769	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0039 a0039	a0039c0109 a0039c0109	a0039c0109t0001 a0039c0109t0001	a0039c0109t0001g0133 a0039c0109t0001g0133	1	158	0.0063	23	c.527 others(42): Show c.5272-3515_5272-3514insTATATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PATJ_chr1_61737480_62168915	62144771	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02451.hp1 NA18999.hp1 HG02155.hp1 HG02451.hp1 NA18999.hp1	a0013 a0025 a0031 a0013 a0025 a0031	a0013c0004 a0025c0082 a0031c0130 a0013c0004 a0025c0082 a0031c0130	a0013c0004t0001 a0025c0082t0001 a0031c0130t0001 a0013c0004t0001 a0025c0082t0001 a0031c0130t0001	a0013c0004t0001g0028 a0025c0082t0001g0039 a0031c0130t0001g0056 a0013c0004t0001g0028 a0025c0082t0001g0039 a0031c0130t0001g0056	3	158	0.0190	23	c.527 others(42): Show c.5272-3513_5272-3512insTATATATATATATATATATATAT	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	41/43			chr1	TogoVar
PAWR_chr12_79579879_79695964	79638897	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	256	0.0039	23	c.517 others(42): Show c.517-17691_517-17690insTATATATATATATATATATATAT	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	2/6			chr12	TogoVar
PAX5_chr9_36828269_37039268	36984435	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0105 a0001c0002t0105	a0001c0002t0105g0204 a0001c0002t0105g0204	1	274	0.0037	23	c.605 others(42): Show c.605-17712_605-17711insAAAAAAAAAAAAAAAAAAAAAAA	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar

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